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AGING - ENVEJECIMIENTO

TÍTULO / TITLE:    - Predictors of Age of Diagnosis and Survival of Alzheimer’s Disease in Down Syndrome.

REVISTA / JOURNAL:    - J Alzheimers Dis. 2018;61(2):717-728. doi: 10.3233/JAD-170624.

Enlace a la Editora de la Revista http://dx.doi.org/10.3233/JAD-170624

AUTORES / AUTHORS: - Sinai A; ... Strydom A;

INSTITUCIÓN / INSTITUTION: - Division of Psychiatry, University College London, London, UK.; Camden and Islington NHS Foundation Trust, London, UK.;  

RESUMEN / SUMMARY: - BACKGROUND: People with Down syndrome (DS) are an ultra-high risk population for Alzheimer’s disease (AD). Understanding the factors associated with age of onset and survival in this population could highlight factors associated with modulation of the amyloid cascade. OBJECTIVE: This study aimed to establish the typical age at diagnosis and survival associated with AD in DS and the risk factors associated with these. METHODS: Data was obtained from the Aging with Down Syndrome and Intellectual Disabilities (ADSID) research database, consisting of data extracted from clinical records of patients seen by Community Intellectual Disability Services (CIDS) in England. Survival times when considering different risk factors were calculated. RESULTS: The mean age of diagnosis was 55.80 years, SD 6.29. Median survival time after diagnosis was 3.78 years, and median age at death was approximately 60 years. Survival time was associated with age of diagnosis, severity of intellectual disability, living status, anti-dementia medication status, and history of epilepsy. Age at diagnosis and treatment status remained predictive of survival time following adjustment. CONCLUSION: This study provides the best estimate of survival in dementia within the DS population to date, and is in keeping with previous estimates from smaller studies in the DS population. This study provides important estimates and insights into possible predictors of survival and age of diagnosis of AD in adults with DS, which will inform selection of participants for treatment trials in the future.

TÍTULO / TITLE:    - Cerebrovascular pathology in Down syndrome and Alzheimer disease.

REVISTA / JOURNAL:    - Acta Neuropathol Commun. 2017 Dec 1;5(1):93. doi: 10.1186/s40478-017-0499-4.

Enlace a la Editora de la Revista http://dx.doi.org/10.1186/s40478-017-0499-4

AUTORES / AUTHORS: - Head E; et al.

INSTITUCIÓN / INSTITUTION: - University of Kentucky, Sanders-Brown Center on Aging, 800 South Limestone Street, Lexington, KY, 40536, USA.   elizabeth.head@uky.edu

RESUMEN / SUMMARY: - People with Down syndrome (DS) are at high risk for developing Alzheimer disease (AD) with age. Typically, by age 40 years, most people with DS have sufficient neuropathology for an AD diagnosis. Interestingly, atherosclerosis and hypertension are atypical in DS with age, suggesting the lack of these vascular risk factors may be associated with reduced cerebrovascular pathology. However, because the extra copy of APP leads to increased beta-amyloid peptide (Abeta) accumulation in DS, we hypothesized that there would be more extensive and widespread cerebral amyloid angiopathy (CAA) with age in DS relative to sporadic AD. To test this hypothesis CAA, atherosclerosis and arteriolosclerosis were used as measures of cerebrovascular pathology and compared in post mortem tissue from individuals with DS (n = 32), sporadic AD (n = 80) and controls (n = 37). CAA was observed with significantly higher frequencies in brains of individuals with DS compared to sporadic AD and controls. Atherosclerosis and arteriolosclerosis were rare in the cases with DS. CAA in DS may be a target for future interventional clinical trials.

TÍTULO / TITLE:    - Cerebral vasoreactivity and intima-media thickness in Down syndrome: A case-control study

REVISTA / JOURNAL:    - (2018) Journal of the Neurological Sciences, 385, pp. 57-63.

AUTORES / AUTHORS: - Colella, M., Stilo, C., Cocchella, A., Bianchini, D., Pilotto, A., Del Sette, P., Musolino, R.

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - Subjects with Down Syndrome (DS) have high prevalence of cerebral vascular amyloidosis, cognitive decline and dementia. In Alzheimer Disease, impaired vasoreactivity has been reported as the results of vascular amyloid deposition. Aim of our study was to verify presence of impaired cerebral vasoreactivity and to study carotid intima media-thickness (IMT) by carotid and transcranial ultrasound. We studied 25 DS and compared them with 25 age- and sex-matched normal controls. Vasomotor reactivity was evaluated by means of breath-holding index (BHI) test. There was no difference in IMT, both considering the two side separately (left: 0.70 ± 0.10 vs 0.69 ± 0.12 mm, p = 0.6) (right: 0.67 ± 0.13 vs 0.68 ± 0.10 mm, p = 0.5), and considering the sum of both sides (1.38 ± 0.22 vs 1.38 ± 0.23 mm, p = 1). There was a significant difference in peak systolic velocities (PSV) (139.75 ± 27.67 vs. 123.89 ± 25.73 cm/s, p = 0.04) and in pulsatility index (PI) (0.95 ± 0.14 vs. 0.86 ± 0.12, p = 0.02). BHI was significantly lower in DS than in controls (1.15 ± 0.38 vs 1.88 ± 0.72, p < 0.001). In conclusion, subjects with DS have increased PSV and PI, and show a reduction of BHI, expression of impaired vasomotor reserve, possibly due to micro-vascular impairment. Larger study with longitudinal design is needed to verify our data.

TÍTULO / TITLE:    - Increased levels of plasma total tau in adult Down syndrome.

REVISTA / JOURNAL:    - PLoS One. 2017 Nov 30;12(11):e0188802. doi: 10.1371/journal.pone.0188802. eCollection 2017.

Enlace a la Editora de la Revista http://dx.doi.org/10.1371/journal.pone.0188802

AUTORES / AUTHORS: - Kasai T et al.

INSTITUCIÓN / INSTITUTION: - Department of Neurology, Kyoto Prefectural University of Medicine, Kyoto, Japan.; Department of Zaitaku (Homecare) Medicine, Kyoto Prefectural University of Medicine, Kyoto, Japan.  

RESUMEN / SUMMARY: - Down syndrome (DS) is the most prevalent chromosomal abnormality. Early-onset dementia with the pathology of Alzheimer’s disease (AD) frequently develops in DS. Reliable blood biomarkers are needed to support the diagnosis for dementia in DS, since positron emission tomography or cerebrospinal fluid sampling is burdensome, particularly for patients with DS. Plasma t-tau is one of the established biomarkers for the diagnosis of AD, suggesting the potential value of t-tau as a biomarker for dementia in DS. The aim of this study was to assess and compare plasma levels of t-tau in adults with DS and in an age-matched control population. In this study, plasma levels of t-tau in 21 patients with DS and 22 control participants were measured by an ultrasensitive immunoassay technology, the single-molecule immunoarray (Simoa) method. We observed significantly increased plasma t-tau levels in the DS group (mean +/- standard deviation (SD) = 0.643+/-0.493) compared to those in the control group (mean +/- SD = 0.470+/-0.232): P = 0.0050. Moreover, age dependent correlation of plasma t-tau was only found in the DS group, and not in the control group. These findings suggest that elevated plasma t-tau levels reflect AD pathology and therefore have potential as an objective biomarker to detect dementia in adult DS.

TÍTULO / TITLE:    - Erythromyeloid-Derived TREM2: A Major Determinant of Alzheimer’s Disease Pathology in Down Syndrome.

REVISTA / JOURNAL:    - J Alzheimers Dis. 2018;61(3):1143-1162. doi: 10.3233/JAD-170814.

Enlace a la Editora de la Revista http://dx.doi.org/10.3233/JAD-170814

AUTORES / AUTHORS: - Raha-Chowdhury R; et al.

INSTITUCIÓN / INSTITUTION: - Department of Clinical Neuroscience, John Van Geest Centre for Brain Repair, Cambridge, UK.; Department of Psychiatry, Cambridge Intellectual and Developmental Disabilities Research Group, University of Cambridge, Cambridge, UK.  

RESUMEN / SUMMARY: - BACKGROUND: Down syndrome (DS; trisomy 21) individuals have a spectrum of hematopoietic and neuronal dysfunctions and by the time they reach the age of 40 years, almost all develop Alzheimer’s disease (AD) neuropathology which includes senile plaques and neurofibrillary tangles. Inflammation and innate immunity are key players in AD and DS. Triggering receptor expressed in myeloid cells-2 (TREM2) variants have been identified as risk factors for AD and other neurodegenerative diseases. OBJECTIVE: To investigate the effects of TREM2 and the AD-associated R47H mutation on brain pathology and hematopoietic state in AD and DS. METHODS: We analyzed peripheral blood, bone marrow, and brain tissue from DS, AD, and age-matched control subjects by immunohistochemistry and western blotting. TREM2-related phagocytosis was investigated using a human myeloid cell line. RESULTS: TREM2 protein levels in brain and sera declined with age and disease progression in DS. We observed soluble TREM2 in brain parenchyma that may be carried by a subset of microglia, macrophages, or exosomes. Two DS cases had the AD-associated TREM2-R47H mutation, which manifested a morphologically extreme phenotype of megakaryocytes and erythrocytes in addition to impaired trafficking of TREM2 to the erythroid membrane. TREM2 was shown to be involved in phagocytosis of red blood cells. TREM2 was seen in early and late endosomes. Silencing TREM2 using siRNA in THP1 cells resulted in significant cell death. CONCLUSION: We provide evidence that peripheral TREM2 originating from erythromyeloid cells significantly determines AD neuropathology in DS subjects. Understanding the molecular signaling pathways mediated by TREM2 may reveal novel therapeutic targets.

TÍTULO / TITLE:    - In vivo and ex vivo analyses of amyloid toxicity in the Tc1 mouse model of Down syndrome.

REVISTA / JOURNAL:    - J Psychopharmacol. 2017 Dec 1:269881117743484. doi: 10.1177/0269881117743484.

Enlace a la Editora de la Revista http://dx.doi.org/10.1177/0269881117743484

AUTORES / AUTHORS: - Naert G; et al.

INSTITUCIÓN / INSTITUTION: - 1 INSERM U1198, Montpellier, France  

RESUMEN / SUMMARY: - RATIONALE: The prevalence of Alzheimer’s disease is increased in people with Down syndrome. The pathology appears much earlier than in the general population, suggesting a predisposition to develop Alzheimer’s disease. Down syndrome results from trisomy of human chromosome 21, leading to overexpression of possible Alzheimer’s disease candidate genes, such as amyloid precursor protein gene. To better understand how the Down syndrome context results in increased vulnerability to Alzheimer’s disease, we analysed amyloid-beta [25-35] peptide toxicity in the Tc1 mouse model of Down syndrome, in which ~75% of protein coding genes are functionally trisomic but, importantly, not amyloid precursor protein. RESULTS: Intracerebroventricular injection of oligomeric amyloid-beta [25-35] peptide in three-month-old wildtype mice induced learning deficits, oxidative stress, synaptic marker alterations, activation of glycogen synthase kinase-3beta, inhibition of protein kinase B (AKT), and apoptotic pathways as compared to scrambled peptide-treated wildtype mice. Scrambled peptide-treated Tc1 mice presented high levels of toxicity markers as compared to wildtype mice. Amyloid-beta [25-35] peptide injection in Tc1 mice induced significant learning deficits and enhanced glycogen synthase kinase-3beta activity in the cortex and expression of apoptotic markers in the hippocampus and cortex. Interestingly, several markers, including oxidative stress, synaptic markers, glycogen synthase kinase-3beta activity in the hippocampus and AKT activity in the hippocampus and cortex, were unaffected by amyloid-beta [25-35] peptide injection in Tc1 mice. CONCLUSIONS: Tc1 mice present several toxicity markers similar to those observed in amyloid-beta [25-35] peptide-treated wildtype mice, suggesting that developmental modifications in these mice modify their response to amyloid peptide. However, amyloid toxicity led to severe memory deficits in this Down syndrome mouse model.

TÍTULO / TITLE:    - Proteomic analysis of six- and twelve-month hippocampus and cerebellum in a murine Down syndrome model.

REVISTA / JOURNAL:    - Neurobiol Aging. 2017 Nov 26;63:96-109. doi: 10.1016/j.neurobiolaging.2017.11.010.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.neurobiolaging.2017.11.010

AUTORES / AUTHORS: - Vacano GN; ... Patterson D;

INSTITUCIÓN / INSTITUTION: - Knoebel Institute for Healthy Aging, Eleanor Roosevelt Institute, and Department of Biological Sciences, University of Denver, Denver, CO, USA.   David.Patterson@du.edu

RESUMEN / SUMMARY: - This study was designed to investigate the brain proteome of the Ts65Dn mouse model of Down syndrome. We profiled the cerebellum and hippocampus proteomes of 6- and 12-month-old trisomic and disomic mice by difference gel electrophoresis. We quantified levels of 2082 protein spots and identified 272 (170 unique UniProt accessions) by mass spectrometry. Four identified proteins are encoded by genes trisomic in the Ts65Dn mouse. Three of these (CRYZL11, EZR, and SOD1) were elevated with p-value <0.05, and 2 proteins encoded by disomic genes (MAPRE3 and PHB) were reduced. Intergel comparisons based on age (6 vs. 12 months) and brain region (cerebellum vs. hippocampus) revealed numerous differences. Specifically, 132 identified proteins were different between age groups, and 141 identified proteins were different between the 2 brain regions. Our results suggest that compensatory mechanisms exist, which ameliorate the effect of trisomy in the Ts65Dn mice. Differences observed during aging may play a role in the accelerated deterioration of learning and memory seen in Ts65Dn mice.

TÍTULO / TITLE:    - Alzheimer-Like Pattern of Hypometabolism Emerges with Elevated Amyloid-beta Burden in Down Syndrome.

REVISTA / JOURNAL:    - J Alzheimers Dis. 2018;61(2):631-644. doi: 10.3233/JAD-170720.

Enlace a la Editora de la Revista http://dx.doi.org/10.3233/JAD-170720

AUTORES / AUTHORS: - Lao PJ; et al.

INSTITUCIÓN / INSTITUTION: - Department of Medical Physics, University of Wisconsin-Madison, Madison, WI, USA.; University of Wisconsin-Madison, Waisman Center, Madison, WI, USA.  

RESUMEN / SUMMARY: - BACKGROUND: The Down syndrome (DS) population is genetically predisposed to amyloid-beta protein precursor overproduction and Alzheimer’s disease (AD). OBJECTIVE: The temporal ordering and spatial association between amyloid-beta, glucose metabolism, and gray matter (GM) volume in the DS population can provide insight into those associations in the more common sporadic AD. METHODS: Twenty-four adults (13 male, 11 female; 39+/-7 years) with DS underwent [11C]PiB, [18F]FDG, and volumetric MRI scans. Voxel-wise associations between PiB SUVR, FDG SUVR, and GM volume were investigated, with and without individual adjustments for variables of interest. RESULTS: Positive associations of PiB and age were widespread throughout the neocortex and striatum. Negative associations of FDG and age (frontal, parietal, and temporal cortex) and of GM volume and age (frontal and insular cortex) were observed. PiB and FDG were negatively associated in parietal cortex, after adjustment for GM volume. CONCLUSIONS: In adults with DS, early amyloid-beta accumulation in the striatum is divergent from sporadic AD; however, despite the early striatal amyloid-beta, glucose hypometabolism was confined to the typical AD-associated regions, which occurs similarly in autosomal dominant AD. Importantly, the glucose hypometabolism was not explained solely by increased partial volume effect due to GM volume reductions.

TÍTULO / TITLE:    - Accelerated aging and aging process in the brain

REVISTA / JOURNAL:    - (2017) Reviews in the Neurosciences, . Article in Press.

AUTORES / AUTHORS: - Isaev, N.K., Genrikhs, E.E., Oborina, M.V., Stelmashook, E.V.

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - One of the approaches to the research of the problem of aging is the study of genetic pathologies leading to accelerated aging, such as the Hutchinson-Gilford progeria syndrome, Werner syndrome, and Down syndrome. Probably, this approach can be used in an attempt to understand the neuronal mechanisms underlying normal and pathological brain aging. The analysis of the current state of scientific knowledge about these pathologies shows that in the Hutchinson-Gilford progeria and Werner syndrome, the rate of brain aging is significantly lower than the rate of whole body aging, whereas in Down syndrome, the brain ages faster than other organs due to amyloid-beta accumulation and chronic oxidative stress in the brain tissue. The main point of a previously proposed hypothesis is that the aging of higher animals and humans is associated with an increased level of reactive oxygen species in mitochondria with age, which activates apoptosis, thus reducing the number of functioning cells.

CARDIOLOGY - CARDIOLOGÍA

TÍTULO / TITLE:    - The five-year survival of children with Down syndrome in Norway 1994-2009 differed by associated congenital heart defects and extracardiac malformations.

REVISTA / JOURNAL:    - Acta Paediatr. 2018 Jan 17. doi: 10.1111/apa.14223.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/apa.14223

AUTORES / AUTHORS: - Brodwall K; et al.

INSTITUCIÓN / INSTITUTION: - Department of Global Public Health and Primary Care, Faculty of Medicine, University of Bergen, Bergen, Norway Department of Paediatrics, Haukeland University Hospital, Bergen, Norway..  

RESUMEN / SUMMARY: - AIM: We investigated the prevalence of Down syndrome in a nationwide birth cohort, focusing on congenital heart defects, their associations with extracardiac malformations, and survival. METHODS: National registers were used to identify Norwegian births (1994-2009) and deaths (1994-2014) and updated with hospital diagnoses. We estimated birth defect frequencies in Down syndrome and the general population, the association between heart defects and extracardiac malformations and hazard ratios for death from different combinations of heart defects and extracardiac malformations. RESULTS: Down syndrome was found in 1,672/953,450 births (17.6 per 10,000). Of the 1,251 live births (13.3 per 10,000), 58% had heart defects and 9% extracardiac malformations. Heart defects were associated with oesophageal atresia (p=0.02) and Hirschsprung’s disease (p=0.03), but with no other malformations. The five-year survival for Down syndrome increased from 91.8% (1994-1999) to 95.8% (2000-2009) (p=0.006) and overall survival was 92.0% with heart defects and 97.4% without. Compared with Down syndrome children without cardiac or extracardiac malformations, the five-year mortality was similar for those with non-severe heart defects, without or with extracardiac malformations; but 4-7 times higher in those with severe heart defects without extracardiac malformations, and 13-28 times higher in those with severe heart defects and extracardiac malformations. CONCLUSION: Down syndrome childhood survival improved, but mortality remained high with severe heart defects and extracardiac defects. This article is protected by copyright. All rights reserved.

TÍTULO / TITLE:    - Congenital mitral regurgitation with Down syndrome.

REVISTA / JOURNAL:    - Asian Cardiovasc Thorac Ann. 2018 Jan 1:218492318755584. doi: 10.1177/0218492318755584.

Enlace a la Editora de la Revista http://dx.doi.org/10.1177/0218492318755584

AUTORES / AUTHORS: - Tajima K; et al.

INSTITUCIÓN / INSTITUTION: - Department of Thoracic and Cardiovascular Surgery, 13145 Wakayama Medical University , Wakayama city, Japan.  

RESUMEN / SUMMARY: - A 19-year-old man with Down syndrome had congenital mitral regurgitation. He had slight mental retardation and difficulty in performing independent oral drug administration. We planned mitral valve plasty to avoid postoperative anticoagulant therapy. The mitral valve lesions were complicated. A prolapsed anterior mitral leaflet, shortened posterior leaflet, abnormal cleft, abnormal papillary muscle, and enlarged annulus were observed. Successful mitral valve plasty was performed using several techniques. The postoperative course was uneventful, and no significant mitral regurgitation was found.

TÍTULO / TITLE:    - Evaluation of aortic intima-media thickness in newborns with Down syndrome.

REVISTA / JOURNAL:    - Adv Clin Exp Med. 2017 Nov;26(8):1253-1256.

AUTORES / AUTHORS: - Sarici D;

INSTITUCIÓN / INSTITUTION: - Division of Neonatology, Department of Pediatrics, Kecioren Training and Research Hospital, Ankara, Turkey.  

RESUMEN / SUMMARY: - BACKGROUND: Health care programs for children with Down syndrome (DS) help improve the overall outcome and quality of life of these children. It is therefore very important to focus on the most common and serious problems of these patients, such as congenital heart defects and cardiac problems, and to keep medical guidelines updated with regard to these problems. OBJECTIVES: The aim of this study was to evaluate aortic intima-media thickness (aIMT), lipid profiles and blood pressure in DS patients in comparison with a control group of age and gender-matched neonates without DS. MATERIAL AND METHODS: Serum concentrations of lipids (total cholesterol, LDL-cholesterol, HDL-cholesterol, and triglyceride), blood pressure and abdominal aIMT were measured in newborns with DS, and compared with the measurements from age and gender-matched newborns without DS. RESULTS: No statistically significant differences between the 2 groups of newborns were detected with respect to aIMT, lipid levels or blood pressure. CONCLUSIONS: This study represents the first investigation of aIMT - one of the most important indicators of atherosclerosis - in DS patients, but neither a significantly increased aIMT, nor any significant changes in lipid profiles or blood pressure were detected in this group of patients. Whether aIMT differs according to the type of congenital heart defect (such as atrial septal defect, ventricular septal defect, patent ductus arteriosus, and atrioventricular septal defect) among DS patients remains to be determined in future studies.

TÍTULO / TITLE:    - MTHFR promoter hypermethylation may lead to congenital heart defects in Down syndrome.

REVISTA / JOURNAL:    - Intractable Rare Dis Res. 2017 Nov;6(4):295-298. doi: 10.5582/irdr.2017.01068.

Enlace a la Editora de la Revista http://dx.doi.org/10.5582/irdr.2017.01068

AUTORES / AUTHORS: - Asim A; et al

INSTITUCIÓN / INSTITUTION: - Department of Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.  

RESUMEN / SUMMARY: - Altered global methylation levels revealed LINE-1 methylation in young mothers of Down syndrome (DS) compared to controls suggesting the possibility of impaired DNA methylation causing abnormal segregation of chromosome 21. Methylene Tetrahydrofolate Reductase (MTHFR) is one of the major enzymes of the folate metabolism pathway. MTHFR gene polymorphism has been associated with maternal risk for DS. Studies have revealed that increased MTHFR promoter methylation results in the reduction of MTHFR protein activity further leading to increased risk of various diseases. The aim of this study is to compare the levels of MTHFR promoter methylation in all three study groups. A total of 120 subjects were recruited for the study and was divided into the following three groups: Group I (mothers of DS without Congenital Heart Defects (CHD), n = 40); Group II (mothers of DS with CHD, n = 40); and Group III (age matched control mothers, n = 40). Genomic DNA was isolated from 2 ml peripheral blood and bisulfite treatment was done to convert all unmethylated cytosines into uracil followed by PCR amplification for MTHFR promoter region and Sanger’s sequencing. Results showed that there was a two fold increase in methylated promoter region of MTHFR gene in group II compared to other groups. None of the methylation pattern was observed in the control group. MTHFR promoter methylation affects folate metabolism which is known to play a role in chromosomal breakage, abnormal chromosomal segregation and genomic instability and therefore a developmental defect in the form of congenital cardiac anomaly.

TÍTULO / TITLE:    - Current surgical outcomes of congenital heart surgery for patients with down syndrome in Japan

REVISTA / JOURNAL:    - (2018) Circulation Journal, 82 (2), pp. 403-408. 

AUTORES / AUTHORS: - Hoashi, T., Hirahara, N., Murakami, A., Hirata, Y., Ichikawa, H., Kobayashi, J., Takamoto, S.

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - Background: Current surgical outcomes of congenital heart surgery for patients with Down syndrome are unclear. Methods and Results: Of 29,087 operations between 2008 and 2012 registered in the Japan Congenital Cardiovascular Surgery Database (JCCVSD), 2,651 were carried out for patients with Down syndrome (9%). Of those, 5 major biventricular repair procedures [ventricular septal defect repair (n=752), atrioventricular septal defect repair (n=452), patent ductus arteriosus closure (n=184), atrial septal defect repair (n=167), tetralogy of Fallot (TOF) repair (n=108)], as well as 2 major single ventricular palliations [bidirectional Glenn (n=21) and Fontan operation (n=25)] were selected and their outcomes were compared. The 90-day and in-hospital mortality rates for all 5 major biventricular repair procedures and bidirectional Glenn were similarly low in patients with Down syndrome compared with patients without Down syndrome. On the other hand, mortality after Fontan operation in patients with Down syndrome was significantly higher than in patients without Down syndrome (42/1,558=2.7% vs. 3/25=12.0%, P=0.005). Conclusions: Although intensive management of pulmonary hypertension is essential, analysis of the JCCVSD revealed favorable early prognostic outcomes after 5 major biventricular procedures and bidirectional Glenn in patients with Down syndrome. Indication of the Fontan operation for patients with Down syndrome should be carefully decided.

TÍTULO / TITLE:    - Current surgical outcomes of congenital heart surgery for patients with down syndrome in Japan

REVISTA / JOURNAL:    - (2018) Circulation Journal, 82 (2), pp. 403-408. 

AUTORES / AUTHORS: - Hoashi, T., Hirahara, N., Murakami, A., Hirata, Y., Ichikawa, H., Kobayashi, J., Takamoto, S.

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - Background: Current surgical outcomes of congenital heart surgery for patients with Down syndrome are unclear. Methods and Results: Of 29,087 operations between 2008 and 2012 registered in the Japan Congenital Cardiovascular Surgery Database (JCCVSD), 2,651 were carried out for patients with Down syndrome (9%). Of those, 5 major biventricular repair procedures [ventricular septal defect repair (n=752), atrioventricular septal defect repair (n=452), patent ductus arteriosus closure (n=184), atrial septal defect repair (n=167), tetralogy of Fallot (TOF) repair (n=108)], as well as 2 major single ventricular palliations [bidirectional Glenn (n=21) and Fontan operation (n=25)] were selected and their outcomes were compared. The 90-day and in-hospital mortality rates for all 5 major biventricular repair procedures and bidirectional Glenn were similarly low in patients with Down syndrome compared with patients without Down syndrome. On the other hand, mortality after Fontan operation in patients with Down syndrome was significantly higher than in patients without Down syndrome (42/1,558=2.7% vs. 3/25=12.0%, P=0.005). Conclusions: Although intensive management of pulmonary hypertension is essential, analysis of the JCCVSD revealed favorable early prognostic outcomes after 5 major biventricular procedures and bidirectional Glenn in patients with Down syndrome. Indication of the Fontan operation for patients with Down syndrome should be carefully decided.

TÍTULO / TITLE:    - Resource Use and Morbidities in Pediatric Cardiac Surger y Patients with Genetic Conditions

REVISTA / JOURNAL:    - (2017) Journal of Pediatrics, . Article in Press.

AUTORES / AUTHORS: - Furlong-Dillard, J., Bailly, D., Amula, V., Wilkes, J., Bratton, S.

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - Objective : To evaluate and describe resource use and perioperative morbidities among those patients with genetic conditions undergoing cardiac surgery. Study design: Using the Pediatric Health Information System database, we identified patients ≤18 years old with cardiac surgery classified by Risk Adjustment for Congenital Heart Surgery (RACHS) during 2003-2014. A total of 95 253 patients met study criteria and included no genetic conditions (84.6%), trisomy 21 (9.9%), trisomy 13 or 18 (0.2%), 22q11 deletion (0.8%), Turner syndrome (0.4%), and "other" genetic conditions (4.2%). We compared perioperative complications and procedures in each genetic condition with patients without genetic conditions using regression analysis. Results: All groups with genetic conditions, excluding trisomy 21 RACHS 3-5, experienced increased length of stay and cost among survivors. Complications varied by genetic condition, with patients with trisomy 21 having increased odds of pulmonary hypertension and nosocomial infections. Patients with 22q11 only had increased odds of infection. Patients with Turner syndrome had increased odds of acute renal failure (OR 2.35). Patients with trisomy 13 or 18 had increased odds of pulmonary hypertension (OR 3.13), acute renal failure (OR 2.93), cardiac arrest (OR 2.84), and nosocomial infections (OR 3.53), and those with "other" genetic conditions had increased odds of all complications. Conclusions: Children with congenital heart disease and genetic conditions, except trisomy 21 RACHS 3-5, had increased costs and length of stay. Perioperative morbidities were more common and differed across genetic condition subgroups. Patient-specific risk factors are important for risk stratification, benchmarking, and counseling with families.

TÍTULO / TITLE:    - Incidence and risk factors of post-operative arrhythmias and sudden cardiac death after atrioventricular septal defect (AVSD) correction: Up to 47 years of follow-up

REVISTA / JOURNAL:    -

Enlace a la Editora de la Revista (2018) International Journal of Cardiology, 252, pp. 88-93 .

AUTORES / AUTHORS: - Kharbanda, R.K., Blom, N.A., Hazekamp, M.G., Yildiz, P., Mulder, B.J.M., Wolterbeek, R., Weijerman, M.E., Schalij, M.J., Jongbloed, M.R.M., Roest, A.A.W.

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - Background Atrioventricular septal defect (AVSD) has an incidence of 4–5.3 per 10.000 live births and is associated with Down syndrome (DS). Data on arrhythmias and sudden cardiac death (SCD) after AVSD correction is scarce. Aim To analyse the incidence of post-operative arrhythmias and SCD after AVSD correction and explore risk factors. Methods This is a retrospective multicenter study including patients after biventricular AVSD correction. Univariate and multivariate analyses were performed to explore risk factors. Results A total of 415 patients were included with a mean follow-up duration of 9 years (range; < 30 days–47 years). Early post-operative SVTs were documented in 33 patients (8%) and late post-operative SVTs in 15 patients (3.6%). Non-syndromic AVSD (p = 0.022, HR = 2.64; 95% CI = 1.15–6.04) and cAVSD (p = 0.005, HR = 3.7; 95% CI = 1.39–7.51) were independent risk factors for early post-operative SVTs and significant more late post-operative SVTs occurred in non-syndromic patients (p = 0.016, HR = 6.38; 95% CI = 1.42–28.71) and in pAVSD (p = 0.045, HR = 3.703; 95% CI = 1.03–13.32). Fifteen patients (3.6%) received a pacemaker. Non syndromic AVSD (p = 0.008, HR = 15.82; 95% CI = 2.04–122.47), pAVSD (p = 0.017, HR = 6.26; 95% CI = 1.39–28.28) and re-operation (p = 0.007, HR = 4.911; 95% CI = 1.54–15.64) were independent risk factors for postoperative pacemaker implantation. Late life threatening ventricular arrhythmias and SCD occurred in 0.5% and 1.7% respectively. Conclusion There is good long-term survival after AVSD correction and incidence of SCD is low. Non-syndromic AVSD and cAVSD are independent risk factors for early post-operative SVTs. Non-syndromic AVSD patients have significant more early 3rd degree AVB and late postoperative SVTs. Non-syndromic patients with partial AVSD who have undergone reoperation have a significant higher risk of pacemaker implantation.

TÍTULO / TITLE:    - Outcome of orthodontic palatal plate therapy for orofacial dysfunction in children with Down syndrome: A systematic review.

REVISTA / JOURNAL:    - Orthod Craniofac Res. 2018 Feb;21(1):20-26. doi: 10.1111/ocr.12211. Epub 2017 Dec 12.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/ocr.12211

AUTORES / AUTHORS: - Javed F;

INSTITUCIÓN / INSTITUTION: - Department of General Dentistry, Eastman Institute for Oral Health, University of Rochester, Rochester, NY, USA.  

RESUMEN / SUMMARY: - To evaluate the effects of orthodontic palatal plate therapy (OPPT) in the treatment of orofacial dysfunction in children with Down syndrome (DS). Indexed databases were searched. Clinical trials in DS allocated to test (treatment with palatal plates) versus control group (without palatal plates/special physiotherapy for orofacial stimulation) with follow-up of any time duration and assessing mouth closure, tongue position, active and inactive muscle function as outcomes. Study designs, subject demographics, frequency and duration of palatal plate therapy, method for assessment, follow-up period and outcomes were reported according to the PRISMA guidelines. Eight clinical studies were included. The risk of bias was considered high in three studies and moderate in 5 studies. The number of children with DS ranged between 9 and 42. The mean age of children with DS at the start of the study ranged between 2 months and 12 years. The duration of palatal plate therapy ranged between 4 months and 48 months. The follow-up period in all studies ranged from 12 to 58 months. All studies reported OPPT to be effective in improving orofacial disorders in children with DS. Most of the included studies suggest that palatal plate therapy in combination with physiotherapy/orofacial regulation therapy according to Castillo Morales/speech and language intervention seems to be effective in improving orofacial disorders in children with DS. However, the risk of bias of the included studies was high to moderate. Longitudinal trials with standardized evaluation methods, age of children at treatment initiation, treatment duration and standard orofacial outcomes are recommended.

DENTAL - DENTAL

TÍTULO / TITLE:    - Reduced salivary flow rate and high levels of oxidative stress in whole saliva of children with Down syndrome.

REVISTA / JOURNAL:    - Spec Care Dentist. 2017 Nov;37(6):269-276. doi: 10.1111/scd.12258. Epub 2017 Dec 12.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/scd.12258

AUTORES / AUTHORS: - Domingues NB; et al.

INSTITUCIÓN / INSTITUTION: - Department of Orthodontics and Pediatric Dentistry, Araraquara Dental School, Universidade Estadual Paulista, UNESP, Araraquara, Sao Paulo, Brazil.  

RESUMEN / SUMMARY: - AIM: To investigate salivary parameters between children with Down Syndrome (DS) and without DS. MATERIALS AND METHODS: Stimulated whole saliva was collected from 18 children with DS and 23 without DS. Salivary flow rate, pH, and salivary buffering capacity were determined. Cariogenic microorganisms were quantified by culture, and periodontopathogens by quantitative real-time polymerase chain reaction. The antioxidant profile was quantified spectrophotometrically, while malondialdehyde (MDA) was quantified by high-performance liquid chromatography. Data were analyzed by Mann-Whitney test and Spearman correlation (alpha = 0.05). RESULTS: Salivary flow rate was significantly lower in DS than in controls (p < 0.0001). Significant higher difference was observed for total protein dosage (p < 0.0001), superoxide dismutase activity (SOD) (p = 0.0002), and MDA (p < 0.001) in DS group. CONCLUSIONS: Reduced salivary flow rate might be an important factor in oral diseases development. High salivary levels of SOD and MDA show the significant influence of the oxidative stress and the early-onset periodontal disease in DS people.

TÍTULO / TITLE:    - Reassessment of fluctuating dental asymmetry in Down syndrome.

REVISTA / JOURNAL:    - Sci Rep. 2017 Nov 30;7(1):16679. doi: 10.1038/s41598-017-16798-0.

Enlace a la Editora de la Revista http://dx.doi.org/10.1038/s41598-017-16798-0

AUTORES / AUTHORS: - Matabuena Rodriguez M; et al.

INSTITUCIÓN / INSTITUTION: - Unit of Biostatistics, Department of Statistics and Operations Research, School of Medicine, University of Santiago de Compostela (USC), Santiago de Compostela, España.  

RESUMEN / SUMMARY: - Fluctuating dental asymmetry (FDA) is a tool to measure developmental stability that could be increased in gonosomal aneuploidies. The aim of this study was to quantify FDA in individuals with Down syndrome (DS). The study group comprised 40 individuals with DS, and a control group matched for age and sex was created. The target teeth were the maxillary central incisors (11,21), maxillary lateral incisors (12,22), maxillary canines (13,23), and maxillary first molars (16,26). Dental morphometric variables measured on CBCT images included tooth length, crown height, root length, mesio-distal diameter, crown-to-root ratio, vestibular-palatine diameter, mid mesio-distal diameter, mid buccal-palatal diameter, maximum buccal-palatal diameter, and cervical circumference. The FA2 fluctuating asymmetry index (Palmer and Strobeck, 1986) was applied. Some discrepancies in crown-to-root ratios and root length asymmetry were significantly lower in the DS individuals than in controls. Combining the crown-to-root ratio of tooth 11 versus 21, tooth 12 versus 22, and tooth 13 versus 23, we developed a predictive model with a discriminatory power between DS and controls of 0.983. Some dental morphometric variables may actually be more stable in DS individuals than in the general population. This offers a new perspective on the relationship between canalization, fluctuating asymmetry, and aneuploidy.

TÍTULO / TITLE:    - Outcomes of Dental Implant Therapy in Patients With Down Syndrome: A Systematic Review.

REVISTA / JOURNAL:    - J Evid Based Dent Pract. 2017 Dec;17(4):317-323. doi: 10.1016/j.jebdp.2017.05.003. Epub 2017 May 15.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.jebdp.2017.05.003

AUTORES / AUTHORS: - Najeeb S; et al

INSTITUCIÓN / INSTITUTION: - Department of Restorative Dentistry, Taibah University, Al Madinah Al Munawwarah, Saudi Arabia; Department of Dental Materials, Islamic International Dental College, Riphah International University, Islamabad, Pakistan.   drsohail78@hotmail.com

RESUMEN / SUMMARY: - OBJECTIVES: Patients with Down syndrome (DS) require an earlier and more frequent tooth replacement than rest of the population. The objective of this systematic review is to critically analyze and summarize studies to ascertain the outcomes and survival of dental implants placed in jaws of DS patients. METHODS: Using the key words “dental implants,” “Down syndrome,” and “prosthodontics,” an electronic search was conducted via PubMed/MEDLINE, ISI Web of Science, Google Scholar, Embase, and Central Register of Controlled Trials (CENTRAL) databases by 2 authors, S.N. and Z.K., independently. Retrieved studies were screened against the predefined exclusion and inclusion criteria. To estimate the risk of bias, quality assessment of included studies was carried using the ‘Case Reports (CARE) guidelines’. RESULTS: Primary search resulted in 156 studies. Eight studies met the inclusion criteria and reporting a total of 81 dental implants placed in 36 DS patients. The type of implant loading ranged from immediate to a delay of 1 year after placement of the implant. Implant diameter ranged from 3.3 to 4.5 mm, and height ranged from 8.5 to 18 mm. The follow-up ranged from 1 to 6 years. Of 81 implants placed, 21 implants (26%) were reported as failed. CONCLUSIONS: Patients with DS have a higher risk of implant failure. However, the reason for the failure is not very well understood. Although case reports and case series suggest that implant survival is diminished in DS patients, large-scale randomized controlled trials are required to determine the exact mechanism associated with risks of implant failure.

EAR/NASAL - OTORRINOLARINGOLOGÍA

TÍTULO / TITLE:    - Auditory evoked potentials in children and adolescents with Down syndrome.

REVISTA / JOURNAL:    - Am J Med Genet A. 2018 Jan;176(1):68-74. doi: 10.1002/ajmg.a.38520. Epub 2017 Dec 6.

Enlace a la Editora de la Revista http://dx.doi.org/10.1002/ajmg.a.38520

AUTORES / AUTHORS: - Gregory L; et al.

INSTITUCIÓN / INSTITUTION: - Graduate Program in Pathology, Universidade Federal de Ciencias da Saude de Porto Alegre (UFCSPA), Porto Alegre, RS, Brazil.  

RESUMEN / SUMMARY: - Down syndrome, or trisomy 21, is the most common genetic alteration in humans. The syndrome presents with several features, including hearing loss and changes in the central nervous system, which may affect language development in children and lead to school difficulties. The present study aimed to investigate group differences in the central auditory system by long-latency auditory evoked potentials and cognitive potential. An assessment of 23 children and adolescents with Down syndrome was performed, and a control group composed of 43 children and adolescents without genetic and/or neurological changes was used for comparison. All children underwent evaluation with pure tone and vocal audiometry, acoustic immitance measures, long-latency auditory evoked potentials, and cognitive potential. Longer latencies of the waves were found in the Down syndrome group than the control group, without significant differences in amplitude, suggesting that individuals with Down syndrome have difficulty in discrimination and auditory memory. It is, therefore, important to stimulate and monitor these children in order to enable adequate development and improve their life quality. We also emphasize the importance of the application of auditory evoked potentials in clinical practice, in order to contribute to the early diagnosis of hearing alterations and the development of more research in this area.

TÍTULO / TITLE:    - Down syndrome and pediatric obstructive sleep apnea surgery: A national cohort.

REVISTA / JOURNAL:    - Laryngoscope. 2017 Dec 27. doi: 10.1002/lary.27063.

Enlace a la Editora de la Revista http://dx.doi.org/10.1002/lary.27063

AUTORES / AUTHORS: - Ong AA; Atwood CM; et al.

INSTITUCIÓN / INSTITUTION: - Department of Otolaryngology-Head and Neck Surgery, Medical University of South Carolina, Charleston, South Carolina, U.S.A.  

RESUMEN / SUMMARY: - OBJECTIVES/HYPOTHESIS: To analyze the trend of sleep surgeries in pediatric patients with Down syndrome (DS) and obstructive sleep apnea (OSA), and to compare this to nonsyndromic (NS) children with OSA. STUDY DESIGN: Retrospective cohort database analysis. METHODS: Analysis of the 1997 to 2012 editions of the Kid’s Inpatient Database was conducted. Using International Classification of Diseases, Ninth Revision codes, all patients with OSA were identified, and subsequently, subgroups of NS children and children with DS were identified. Trends of the number and types of sleep surgeries were analyzed. RESULTS: A total of 48,301 and 2,991 sleep surgeries were identified in the NS and DS groups, respectively, during the study period. Tonsillectomy with adenoidectomy was the most common procedure in both groups, but the proportion of tonsillectomy with adenoidectomy decreased over time (P < .01). The proportion of palatal surgery and tracheostomy also decreased significantly, whereas there was an increase in the proportion of lingual tonsillectomies, tongue-base reduction procedures, and supraglottoplasties performed in both groups over time. The relative rates of change in these procedures were higher in the DS population. CONCLUSIONS: Tonsillectomy with adenoidectomy remains the most commonly performed procedure, although there was a significant increase in other sleep surgeries performed (lingual tonsillectomy, tongue-base reduction, and supraglottoplasty) between the two study periods, especially in children with DS. LEVEL OF EVIDENCE: 2c. Laryngoscope, 00:000-000, 2017.

TÍTULO / TITLE:    - Outcomes of tympanoplasty in children with down syndrome.

REVISTA / JOURNAL:    - Int J Pediatr Otorhinolaryngol. 2017 Dec;103:36-40. doi: 10.1016/j.ijporl.2017.10.004. Epub 2017 Oct

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.ijporl.2017.10.004

AUTORES / AUTHORS: - Ghadersohi S; ... Billings KR;

INSTITUCIÓN / INSTITUTION: - Ann & Robert H. Lurie Children’s Hospital of Chicago, Division of Otolaryngology - Head and Neck Surgery, Chicago, IL, USA; Northwestern University, Feinberg School of Medicine, Department of Otolaryngology - Head and Neck Surgery, Chicago,   kbillings@luriechildrens.org

RESUMEN / SUMMARY: - INTRODUCTION: The prevalence of chronic otitis media with effusion (COME), and Eustachian tube dysfunction (ETD) is high in Down syndrome (DS) patients. This often necessitates multiple tympanostomy tube (TT) placements resulting in a higher rate of persistent tympanic membrane ™ perforation requiring tympanoplasty for repair. OBJECTIVES: To assess risk factors for persistent perforation and outcomes of tympanoplasty in DS patients. METHODS: Retrospective case series of 91 ears in 69 DS patients with TM perforations, who were either observed or underwent tympanoplasty. Clinical features, surgical outcomes, and hearing outcomes were assessed. RESULTS: 91 ears were evaluated. Sixty perforations were observed, and 31 perforations were repaired. The closure rate was 54.8% for primary surgery, and 70.9% after secondary surgical interventions in the Tympanoplasty Group, compared to 33.0% spontaneous closure rate in the Observation Group (p < 0.001). The only risk factor for failed tympanoplasty repair was persistent COME/ETD (OR 27.2, p = 0.001). In the Observation Group perforations diagnosed at an older age, with >3 TT insertions, and with persistent COME/ETD were less likely to close spontaneously. Patients undergoing tympanoplasty had worse preoperative pure tone averages than those being observed, but significant improvement in air-bone gaps were noted in the Tympanoplasty Group (p = 0.02) post-operatively. Patients were often rehabilitated with hearing aids regardless of intervention (53.3% Observation Group, 48.4% Tympanoplasty Group). CONCLUSIONS: Persistent TM perforation in children with Down syndrome was associated with a history of COME/ETD, and multiple prior TT insertions. Tympanoplasty was successful for repair in most patients who underwent surgical intervention, but residual hearing loss was common.

EPIDEMIOLOGY - EPIDEMIOLOGÍA

TÍTULO / TITLE:    - Older mothers and increased impact of prenatal screening: stable livebirth prevalence of trisomy 21 in the Netherlands for the period 2000-2013.

REVISTA / JOURNAL:    - Eur J Hum Genet. 2018 Jan 12. pii: 10.1038/s41431-017-0075-1. doi: 10.1038/s41431-017-0075-1.

Enlace a la Editora de la Revista http://dx.doi.org/10.1038/s41431-017-0075-1

AUTORES / AUTHORS: - de Groot-van der Mooren MD; et al.

INSTITUCIÓN / INSTITUTION: - Department of Pediatrics, VU University Medical Center, Amsterdam, The Netherlands.  

RESUMEN / SUMMARY: - In the Netherlands, there is no registry system regarding the livebirth prevalence of trisomy 21 (T21). In 2007, a national screening programme was introduced for all pregnant women, which may have changed the livebirth prevalence of T21. The aim of this study is to analyse trends in factors that influence livebirth prevalence of T21 and to estimate the livebirth prevalence of T21 for the period of 2000-2013. National data sets were used on the following: (1) livebirths according to maternal age and (2) prenatal testing and termination of pregnancy (ToP) following diagnosis of T21. These data are combined in a model that uses maternal age-specific risk on T21 and correction factors for natural foetal loss to assess livebirth prevalence of T21. The proportion of mothers aged> /= 36 years has increased from 12.2% in 2000 to 16.6% in 2009, to gradually decrease afterwards to 15.2% in 2013. The number of invasive tests performed adjusted for total livebirths decreased (5.9% in 2000 vs. 3.2% in 2013) with 0.18% a year (95% CI: -0.21 to -0.15; p < 0.001). Following invasive testing, a higher proportion of foetuses was diagnosed with T21 (1.6% in 2000 vs. 4.8% in 2013) with a significant increase of 0.22% a year (95% CI: 0.18-0.26; p < 0.001). The proportion of ToP subsequent to T21 diagnosis was on average 85.7%, with no clear time trend. This resulted in a stable T21 livebirth prevalence of 13.6 per 10,000 livebirths (regression coefficient -0.025 (95% CI: -0.126 to 0.77; p = 0.60).

GENETICS - GENÉTICA

TÍTULO / TITLE:    - Slightly deleterious genomic variants and transcriptome perturbations in Down syndrome embryonic selection.

REVISTA / JOURNAL:    - Genome Res. 2018 Jan;28(1):1-10. doi: 10.1101/gr.228411.117. Epub 2017 Dec 13.

Enlace a la Editora de la Revista http://dx.doi.org/10.1101/gr.228411.117

AUTORES / AUTHORS: - Popadin K; ... Antonarakis SE

INSTITUCIÓN / INSTITUTION: - Department of Genetic Medicine and Development, University of Geneva Medical School, 1211 Geneva, Switzerland.  

RESUMEN / SUMMARY: - The majority of aneuploid fetuses are spontaneously miscarried. Nevertheless, some aneuploid individuals survive despite the strong genetic insult. Here, we investigate if the survival probability of aneuploid fetuses is affected by the genome-wide burden of slightly deleterious variants. We analyzed two cohorts of live-born Down syndrome individuals (388 genotyped samples and 16 fibroblast transcriptomes) and observed a deficit of slightly deleterious variants on Chromosome 21 and decreased transcriptome-wide variation in the expression level of highly constrained genes. We interpret these results as signatures of embryonic selection, and propose a genetic handicap model whereby an individual bearing an extremely severe deleterious variant (such as aneuploidy) could escape embryonic lethality if the genome-wide burden of slightly deleterious variants is sufficiently low. This approach can be used to study the composition and effect of the numerous slightly deleterious variants in humans and model organisms.

TÍTULO / TITLE:    - Spatial organization of chromosome territories in the interphase nucleus of trisomy 21 cells.

REVISTA / JOURNAL:    - Chromosoma. 2017 Dec 14. pii: 10.1007/s00412-017-0653-6. doi: 10.1007/s00412-017-0653-6.

Enlace a la Editora de la Revista http://dx.doi.org/10.1007/s00412-017-0653-6

AUTORES / AUTHORS: - Kemeny S; et al.

INSTITUCIÓN / INSTITUTION: - ERTICA EA 4677, Universite Clermont Auvergne, 63000, Clermont-Ferrand, France.;Service de Cytogenetique Medicale, CHU Estaing, Cytogenetique Medicale, 63003, Clermont-Ferrand, France.  

RESUMEN / SUMMARY: - In the interphase cell nucleus, chromosomes adopt a conserved and non-random arrangement in subnuclear domains called chromosome territories (CTs). Whereas chromosome translocation can affect CT organization in tumor cell nuclei, little is known about how aneuploidies can impact CT organization. Here, we performed 3D-FISH on control and trisomic 21 nuclei to track the patterning of chromosome territories, focusing on the radial distribution of trisomic HSA21 as well as 11 disomic chromosomes. We have established an experimental design based on cultured chorionic villus cells which keep their original mesenchymal features including a characteristic ellipsoid nuclear morphology and a radial CT distribution that correlates with chromosome size. Our study suggests that in trisomy 21 nuclei, the extra HSA21 induces a shift of HSA1 and HSA3 CTs out toward a more peripheral position in nuclear space and a higher compaction of HSA1 and HSA17 CTs. We posit that the presence of a supernumerary chromosome 21 alters chromosome compaction and results in displacement of other chromosome territories from their usual nuclear position.

TÍTULO / TITLE:    - Genetic polymorphisms in folate metabolism as risk for Down syndrome in the southern China.

REVISTA / JOURNAL:    - J Matern Fetal Neonatal Med. 2018 Jan 17:1-6. doi: 10.1080/14767058.2018.1424818.

Enlace a la Editora de la Revista http://dx.doi.org/10.1080/14767058.2018.1424818

AUTORES / AUTHORS: - Jiajin L; et al.

INSTITUCIÓN / INSTITUTION: - a The Second Affiliated Hospital & Yuying Children’s Hospital of Wenzhou Medical University , Wenzhou , China.  

RESUMEN / SUMMARY: - OBJECTIVE: To assess the association between maternal gene polymorphisms of the enzymes involved in folate metabolism and the risk of having a Down syndrome (DS) offspring in southern China mothers. METHODS: Gene polymorphisms in folate metabolizing and the levels of homocysteine (HCY) were analyzed in 84 southern China mothers with DS babies (the case group) and 120 healthy mothers (the control group). Methylenetetrahydrofolate reductase (MTHFR) C677T (rs1801133) and A1298C (rs1801131), methionine synthase (MTR) A2756G (rs1805087), and methionine synthase reductase (MTRR) A66G (rs1801394) were studied. RESULTS: We found no significant differences (p > .05) in the frequencies of four genetic polymorphisms between the two groups. We found gene-gene interactions had a 1.997-fold increased risk in MTHFR 677 CT with MTR AA (OR: 1.997, 95% CI: 1.038-3.841, p = .038) and a 2.588-fold increased risk in MTHFR 677 CT with MTRR AG (OR: 2.588, 95% CI: 1.111-6.031, p = .028) in the case group than control. The levels of HCY were significantly higher in MTHFR 677 TT than MTHFR 677 CC in the case group (TT 17.2167+/-5.1051, CC 12.1969+/-5.0299, F = 2.194, p < .05), and it was significantly higher in MTHFR 677 TT in the case group than control (TT 17.2167+/-5.1051 in the case group, TT 10.2286+/-1.4373 in the control group, F = 2.546, p < .05). CONCLUSION: These results suggest that genetic polymorphisms involved in folate metabolism may have population specificity in determining the susceptibility of having DS offsprings. The gene-nutrition, gene-gene interactions and ethnicity are important variables to be considered in periconceptional nutritional supplementation and antenatal care for reducing the risk of DS babies.

TÍTULO / TITLE:    - DNA (cytosine-5)-methyltransferase 3B (DNMT 3B) polymorphism and risk of Down syndrome offspring.

REVISTA / JOURNAL:    - Saudi J Biol Sci. 2018 Jan;25(1):101-104. doi: 10.1016/j.sjbs.2017.09.008. Epub 2017 Sep 27.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.sjbs.2017.09.008

AUTORES / AUTHORS: - Moura CM; et al

INSTITUCIÓN / INSTITUTION: - Departamento de Genetica, Instituto de Biologia Roberto Alcantara Gomes, Universidade do Estado do Rio de Janeiro, Brazil.  

RESUMEN / SUMMARY: - Down syndrome (DS) is the most common form of human genetic mental retardation. Several polymorphisms in genes coding folic acid cycle enzymes have been associated to the risk of bearing a DS child; however, the results are controversial. S-adenosyl-l-methionine (SAM) is an important intermediate of folic acid pathway and acts as methyl donor and substrate for DNA (cytosine-5)-methyltransferase 3B (DNMT3B - EC 2.1.1.37) de novo methylation processes during embryogenesis. Recent studies suggest that a functional polymorphism of DNMT 3B in maternal genotype may be associated with a decreased risk of having a DS child. We herein investigate the association of this polymorphism with the occurrence of DS in a Brazilian population. We have genotyped 111 mothers of DS infants (MDS) and 212 control mothers (CM) through PCR-RFLP. The observed genotypic frequencies were CC = 0.22; CT = 0.49 and TT = 0.29 in CM, and CC = 0.30; CT = 0.52 and TT = 0.18 in MDS. Allelic frequencies were C = 0.47 and T = 0.53 in CM and C = 0.56 and T = 0.44 in MDS. No deviation of HWE was observed, and both DNMT 3B rs2424913 genotype (chi2 = 4.53; DF = 1; P = 0.03) and allelic (chi2 = 4.90; DF = 1; P = 0.03) frequencies show significant differences between MDS and CM. The presence of the mutant DNMT 3B T allele decreases 30% the risk of bearing a DS child (OR = 0.69; 95% CI: 0.50-0.96; P = 0.03), and the risk is diminished up to 45% in association with the homozygous genotype (OR = 0.54; 95% CI: 0.31-0.96; P = 0.04). Our results suggest that women harboring the single nucleotide polymorphism DNMT 3B rs2424913 have a decreased risk of a DS pregnancy, and further studies are necessary to confirm this protective effect.

TÍTULO / TITLE:    - Birthweights and Down syndrome in neonates that were delivered after frozen-thawed embryo transfer: The 2007-2012 Japan Society of Obstetrics and Gynecology National Registry data in Japan.

REVISTA / JOURNAL:    - Reprod Med Biol. 2017 Apr 10;16(2):228-234. doi: 10.1002/rmb2.12033. eCollection 2017 Apr.

Enlace a la Editora de la Revista http://dx.doi.org/10.1002/rmb2.12033

AUTORES / AUTHORS: - Yamatoya K; et al

INSTITUCIÓN / INSTITUTION: - Department of Perinatal Medicine and Maternal CareNational Center for Child Health and DevelopmentTokyoJapan.; Department of Reproductive BiologyNational Research Institute for Child Health and DevelopmentTokyoJapan.  

RESUMEN / SUMMARY: - Aim: To evaluate the use of frozen embryos on the outcome of assisted reproductive technology (ART), a retrospective study of the Japanese Assisted Reproductive Technology Registry data during the years 2007-2012 was conducted. Methods: A total of 124 946 singleton neonates who reached term gestation following ART from 2007-2012, with 80 660 achieved through frozen-thawed embryo transfer (ET) and 44 286 being achieved through fresh ET, were analyzed for their birthweights and chromosomal abnormalities. Results: The birthweight of the neonates from the frozen-thawed ETs was significantly higher than that of those from the fresh ETs throughout all the study years. The frequency of Down syndrome was 0.17% for the fresh ETs and 0.13% for the frozen-thawed ETs in the period 2007-2012. This study showed that frozen-thawed ETs result in a constant increase of the average birthweight between 37 and 41 weeks gestational age and lower frequencies of Down syndrome. Conclusion: Frozen-thawed ETs were comparable to the fresh ET method, with the exceptions of higher birthweights and a lower frequency of Down syndrome in the neonates that were born from frozen-thawed ET. The increase in birthweights was not proportional to the gestational ages. This cannot be explained with any well-known mechanism. The frequency of chromosomal abnormalities needs detailed data for analysis.

TÍTULO / TITLE:    - Identify Down syndrome transcriptome associations using integrative analysis of microarray database and correlation-interaction network.

REVISTA / JOURNAL:    - Hum Genomics. 2018 Jan 19;12(1):2. doi: 10.1186/s40246-018-0133-y.

Enlace a la Editora de la Revista http://dx.doi.org/10.1186/s40246-018-0133-y

AUTORES / AUTHORS: - Chen M; et al.

INSTITUCIÓN / INSTITUTION: - Department of Fetal Medicine and Prenatal Diagnosis, the Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, 510150, China.;  

RESUMEN / SUMMARY: - BACKGROUND: Long non-coding RNAs (lncRNAs) have previously been emerged as key players in a series of biological processes. Dysregulation of lncRNA is correlated to human diseases including neurological disorders. Here, we developed a multi-step bioinformatics analysis to study the functions of a particular Down syndrome-associated gene DSCR9 including the lncRNAs. The method is named correlation-interaction-network (COIN), based on which a pipeline is implemented. Co-expression gene network analysis and biological network analysis results are presented. METHODS: We identified the regulation function of DSCR9, a lncRNA transcribed from the Down syndrome critical region (DSCR) of chromosome 21, by analyzing its co-expression genes from over 1700 sets and nearly 60,000 public Affymetrix human U133-Plus 2 transcriptional profiling microarrays. After proper evaluations, a threshold is chosen to filter the data and get satisfactory results. Microarray data resource is from EBI database and protein-protein interaction (PPI) network information is incorporated from the most complete network databases. PPI integration strategy guarantees complete information regarding DSCR9. Enrichment analysis is performed to identify significantly correlated pathways. RESULTS: We found that the most significant pathways associated with the top DSCR9 co-expressed genes were shown to be involved in neuro-active ligand-receptor interaction (GLP1R, HTR4, P2RX2, UCN3, and UTS2R), calcium signaling pathway (CACNA1F, CACNG4, HTR4, P2RX2, and SLC8A3), neuronal system (KCNJ5 and SYN1) by the KEGG, and GO analysis. The A549 and U251 cell lines with stable DSCR9 overexpression were constructed. We validated 10 DSCR9 co-expression genes by qPCR in both cell lines with over 70% accuracy. CONCLUSIONS: DSCR9 was highly correlated with genes that were known as important factors in the developments and functions of nervous system, indicating that DSCR9 may regulate neurological proteins regarding Down syn

TÍTULO / TITLE:    - MTHFR promoter hypermethylation may lead to congenital heart defects in Down syndrome.

REVISTA / JOURNAL:    - Intractable Rare Dis Res. 2017 Nov;6(4):295-298. doi: 10.5582/irdr.2017.01068.

Enlace a la Editora de la Revista http://dx.doi.org/10.5582/irdr.2017.01068

AUTORES / AUTHORS: - Asim A; et al

INSTITUCIÓN / INSTITUTION: - Department of Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.  

RESUMEN / SUMMARY: - Altered global methylation levels revealed LINE-1 methylation in young mothers of Down syndrome (DS) compared to controls suggesting the possibility of impaired DNA methylation causing abnormal segregation of chromosome 21. Methylene Tetrahydrofolate Reductase (MTHFR) is one of the major enzymes of the folate metabolism pathway. MTHFR gene polymorphism has been associated with maternal risk for DS. Studies have revealed that increased MTHFR promoter methylation results in the reduction of MTHFR protein activity further leading to increased risk of various diseases. The aim of this study is to compare the levels of MTHFR promoter methylation in all three study groups. A total of 120 subjects were recruited for the study and was divided into the following three groups: Group I (mothers of DS without Congenital Heart Defects (CHD), n = 40); Group II (mothers of DS with CHD, n = 40); and Group III (age matched control mothers, n = 40). Genomic DNA was isolated from 2 ml peripheral blood and bisulfite treatment was done to convert all unmethylated cytosines into uracil followed by PCR amplification for MTHFR promoter region and Sanger’s sequencing. Results showed that there was a two fold increase in methylated promoter region of MTHFR gene in group II compared to other groups. None of the methylation pattern was observed in the control group. MTHFR promoter methylation affects folate metabolism which is known to play a role in chromosomal breakage, abnormal chromosomal segregation and genomic instability and therefore a developmental defect in the form of congenital cardiac anomaly.

GROWTH/DEVELOPMENT - CRECIMIENTO/DESARROLLO

TÍTULO / TITLE:    - Association between Physical Activity and Adiposity in Adolescents with Down Syndrome.

REVISTA / JOURNAL:    - Med Sci Sports Exerc. 2017 Nov 27. doi: 10.1249/MSS.0000000000001502.

Enlace a la Editora de la Revista http://dx.doi.org/10.1249/MSS.0000000000001502

AUTORES / AUTHORS: - Pitchford EA; et al.

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - PURPOSE: Obesity is highly prevalent among adolescents with Down syndrome (DS); however, reported associations between body composition and moderate-to-vigorous physical activity (MVPA) have been small and non-significant. The purpose of this study to compare group differences between adolescents with and without DS, including dual-energy x-ray absorptiometry (DXA) measured body composition and accelerometer-measured physical activity, and then examine associations within adolescents with DS. METHODS: Thirty-nine adolescents (22 with DS and 17 typically developing controls), aged 12-18 years participated in the study. Groups had similar distributions of age, sex, and Tanner pubertal stage. Body composition was assessed by DXA, BMI, and BMI percentile. MVPA was measured with Actigraph GT3X+ accelerometers. RESULTS: Adolescents with DS had significantly higher BMI, BMI percentile, and DXA-derived percent body fat (BF%), as well as lower MVPA compared to controls (p < .05). Associations between MVPA and BF% in adolescents with DS were moderate (r = -.39, p = .07), but substantially stronger than BMI (r = -.19, p =.40). However, linear regression analyses identified Tanner stage (beta = -.77, p < .001) and MVPA (beta = -.34, p = .047) as significant predictors of BF%. No relevant associations between body composition and MVPA were observed in adolescents with typical development (p> .05). CONCLUSIONS: Our findings suggest that MVPA is associated with adiposity when measured with DXA among adolescents with DS.

TÍTULO / TITLE:    - Musculoskeletal development in patients with Down syndrome.

REVISTA / JOURNAL:    - JAAPA. 2017 Dec;30(12):38-40. doi: 10.1097/01.JAA.0000526779.77230.79.

Enlace a la Editora de la Revista http://dx.doi.org/10.1097/01.JAA.0000526779.77230.79

AUTORES / AUTHORS: - Dupre C; Weidman-Evans E

INSTITUCIÓN / INSTITUTION: - South Louisiana Medical Associates in Houma, La.  

RESUMEN / SUMMARY: - Down syndrome is a chromosomal aneuploidy that results in disruptions in multiple body systems, including musculoskeletal function. Early intervention to focus on bone mineral density, gait correction, agility, balance, and muscle strength is imperative in order for patients to achieve maximum potential.

TÍTULO / TITLE:    - Increased prevalence of abnormal vertebral patterning in fetuses and neonates with trisomy 21.

REVISTA / JOURNAL:    - J Matern Fetal Neonatal Med. 2018 Jan 21:1-11. doi: 10.1080/14767058.2018.1431622.

Enlace a la Editora de la Revista http://dx.doi.org/10.1080/14767058.2018.1431622

AUTORES / AUTHORS: - Schut PC; et al.

INSTITUCIÓN / INSTITUTION: - a Department of Obstetrics and Gynecology , Erasmus MC University Medical Center , Division of Obstetrics and Prenatal Medicine , PO Box 2040, Rotterdam , Rotterdam , The Netherlands.  

RESUMEN / SUMMARY: - PURPOSE: To assess the prevalence of an abnormal number of ribs in a cohort of fetuses and neonates with trisomy 21 and compare this with a subgroup of fetuses without anomalies. MATERIALS AND METHODS: Radiographs of 67 deceased fetuses, neonates and infants that were diagnosed with trisomy 21 were reviewed. Terminations of pregnancy were included. The control group was composed of 107 deceased fetuses, neonates and infants without known chromosomal abnormalities, structural malformations, infections or placental pathology. Cases in which the number of thoracic ribs or presence of cervical ribs could not be reliably assessed were excluded. The literature concerning vertebral patterning in trisomy 21 cases and healthy subjects was reviewed. RESULTS: Absent or rudimentary 12th thoracic ribs were found in 26/54 (48.1%) cases with trisomy 21 and cervical ribs were present in 27/47 (57.4%) cases. This prevalence was significantly higher compared to controls (28/100, 28.0%, Chi(2)(1) = 6.252, p = 0.012 and 28/97, 28.9%, Chi(2)(1) = 10.955, p < 0.001 respectively). CONCLUSIONS: Rudimentary or absent 12th thoracic ribs and cervical ribs are significantly more prevalent in deceased fetuses and infants with trisomy 21.

TÍTULO / TITLE:    - Maternal plasma angiogenic and inflammatory factor profiling in foetal Down syndrome.

REVISTA / JOURNAL:    - PLoS One. 2017 Dec 15;12(12):e0189762. doi: 10.1371/journal.pone.0189762. eCollection 2017.

Enlace a la Editora de la Revista http://dx.doi.org/10.1371/journal.pone.0189762

AUTORES / AUTHORS: - Zbucka-Kretowska M; et al.

INSTITUCIÓN / INSTITUTION: - Department of Reproduction and Gynecological Endocrinology, Medical University of Bialystok, Bialystok, Poland.  

RESUMEN / SUMMARY: - OBJECTIVE AND DESIGN: Angiogenic factors are proteins that are related to certain foetal chromosomal abnormalities. The aim of this study was to determine the concentration of 60 angiogenic factors in the plasma of women with offspring possessing trisomy 21/Down syndrome (DS). METHOD: After analysing karyotyping results, we selected 20 patients with foetuses possessing DS, and for the control group, we selected 28 healthy patients with uncomplicated pregnancies who delivered healthy newborns at term (i.e., 15-18 weeks of gestation). To assess the concentration of proteins in the blood plasma, we used a protein macroarray which enabled simultaneous determination of 60 angiogenic factors per sample. RESULTS: We observed a statistically significant increase in the concentration of these five angiogenic and inflammatory factors: TGFb1 (p = 0.039), angiostatin (p = 0.0142), I-309 (p = 0.0476), TGFb3 (p = 0.0395), and VEGF-D (p = 0.0173)-compared to concentrations in patients with healthy foetuses. CONCLUSION: Our findings suggest that angiogenic factors may play role in DS pathogenesis.

TÍTULO / TITLE:    - Down syndrome detection based on facial features using a geometric descriptor.

REVISTA / JOURNAL:    - J Med Imaging (Bellingham). 2017 Oct;4(4):044008. doi: 10.1117/1.JMI.4.4.044008. Epub 2017 Dec 12.

Enlace a la Editora de la Revista http://dx.doi.org/10.1117/1.JMI.4.4.044008

AUTORES / AUTHORS: - Cornejo JYR;

INSTITUCIÓN / INSTITUTION: - University of Campinas, Institute of Computing, Campinas, Brazil.  

RESUMEN / SUMMARY: - Down syndrome is one of the most common genetic disorders caused by chromosome abnormalities in humans. Among other physical characteristics, certain facial features are typically associated in people with Down syndrome. We investigate the problem of Down syndrome detection from a collection of face images. As the main contribution, a compact geometric descriptor is used to extract facial features from the images. Experiments are conducted on an available dataset to demonstrate the performance of the proposed methodology.

HEMATOLOGY/ONCOLOGY - HEMATOLOGÍA/ONCOLOGÍA

TÍTULO / TITLE:    - Acute megakaryoblastic leukemia (excluding Down syndrome) remains an acute myeloid subgroup with inferior outcome in the French ELAM02 trial.

REVISTA / JOURNAL:    - Pediatr Hematol Oncol. 2018 Jan 5:1-3. doi: 10.1080/08880018.2017.1414905.

Enlace a la Editora de la Revista http://dx.doi.org/10.1080/08880018.2017.1414905

AUTORES / AUTHORS: - Teyssier AC; et al.

INSTITUCIÓN / INSTITUTION: - a Department of Pediatric Onco-Hematology , University Hospital Arnaud de Villeneuve , Montpellier , France.  

RESUMEN / SUMMARY: - We report the outcome of 27 children with de novo acute megakaryoblastic leukemia (AMKL) (excluding Down syndrome) enrolled in the French multicenter prospective study ELAM02 (2005-2011). There was no difference in gender, initial leukocyte count, CNS involvement, and complete remission rate (88.9%), as compared to other acute myeloid leukemia (AML) subtypes. AMKL patients had a significantly poorer outcome (5-year overall survival 54% [CI 95% 33%-71%] than children with other AML subtypes (5-year overall survival 73% [CI 95% 68%-77%] p = 0.02). Gender, age, CNS leukemia, hyperleukocytosis, complete remission or cytogenetic subgroups were not significant prognostic factors of disease-free survival. AMKL (excluding Down syndrom) remains an AML subgroup with inferior outcome.

TÍTULO / TITLE:    - Brentuximab-vedotin maintenance following chemotherapy without irradiation for primary intracranial embryonal carcinoma in Down syndrome.

REVISTA / JOURNAL:    - Childs Nerv Syst. 2017 Dec 13. pii: 10.1007/s00381-017-3690-9. doi: 10.1007/s00381-017-3690-9.

Enlace a la Editora de la Revista http://dx.doi.org/10.1007/s00381-017-3690-9

AUTORES / AUTHORS: - Abu Arja MH; et al.

INSTITUCIÓN / INSTITUTION: - The Division of Hematology/Oncology/Blood and Marrow Transplant, Nationwide Children’s Hospital, 700 Children’s Drive, Columbus, OH, 43205, USA.   Mohammad.AbuArja@nationwidechildrens.org

RESUMEN / SUMMARY: - BACKGROUND: Germ cell tumors (GCT) are the most common central nervous system (CNS) tumors in individuals with Down syndrome. Patients with Down syndrome treated with CNS irradiation are at increased risk of developing cerebrovascular complications such as moyamoya disease. Embryonal carcinoma components are recognized to be more resistant to conventional chemotherapy and radiotherapy and confer a very poor prognosis. CD30 is a member of the tumor necrosis factor-receptor superfamily. CD30+ has a limited expression in normal cells but is the defining marker for embryonal carcinoma. Brentuximab-vedotin is a novel antibody-drug conjugate consisting of the chimeric anti-CD30 antibody conjugated to an anti-tubulin synthetic analog monomethyl auristatin E. METHODS: A retrospective review of the patient’s records was conducted in September 2017. RESULTS: We report upon our management of a teenage girl with Down syndrome and a suprasellar pure embryonal carcinoma utilizing an intensive chemotherapy regimen followed by brentuximab-vedotin without irradiation. The patient received two cycles of carboplatin and etoposide interspersed with one cycle of cyclophosphamide and etoposide for induction followed by three cycles of marrow-ablative thiotepa and carboplatin rescued by autologous hematopoietic stem cell. Finally, She received six cycles of intravenous brentuximab-vedotin. The patient continues without evidence of recurrent tumor by MRI and tumor marker surveillance 24 months since diagnosis, with no adverse sequelae of her treatment. CONCLUSIONS: Brentuximab-vedotin may provide a selective and safe alternative (or adjunct) to radiotherapy in the management of patients with CD30-positive CNS embryonal carcinoma, especially for those patients at high risk of developing irradiation-related complications.

TÍTULO / TITLE:    - Lymphomatoid Granulomatosis in A 14-Year-Old Boy with Trisomy 21 and History of B-Lymphoblastic Leukemia/Lymphoma.

REVISTA / JOURNAL:    - Fetal Pediatr Pathol. 2018 Jan 16:1-8. doi: 10.1080/15513815.2017.1379042.

Enlace a la Editora de la Revista http://dx.doi.org/10.1080/15513815.2017.1379042

AUTORES / AUTHORS: - Matynia AP; et al.

INSTITUCIÓN / INSTITUTION: - a Department of Pathology, University of Utah , Salt Lake City , Utah , United States.  

RESUMEN / SUMMARY: - BACKGROUND: Lymphomatoid granulomatosis is a EBV-driven lymphoproliferative disorder that has been reported in association with immunodeficiency, but only exceptionally in patients with hematopoietic malignancy. CASE REPORT: A 14-year-old boy with trisomy-21 and a history of B-lymphoblastic leukemia/lymphoma (B-ALL) diagnosed 1.5 years prior, on maintenance chemotherapy, presented with fever and respiratory symptoms. Chest X-ray revealed right-lower-lobe consolidation. He was treated for pneumonia but continued to be febrile with worsening respiratory status, with development of additional pulmonary and liver nodules. No infectious etiology was identified. Following nondiagnostic lung and liver biopsies, the largest pulmonary mass was resected. The histopathologic findings were diagnostic of lymphomatoid granulomatosis. There was no residual B-ALL. The patient’s status continued to deteriorate and he died shortly thereafter. CONCLUSION: Relative immunosuppression due to maintenance therapy for B-ALL can lead to lymphomatoid granulomatosis.

TÍTULO / TITLE:    - Red blood cell metabolism in Down syndrome: hints on metabolic derangements in aging.

REVISTA / JOURNAL:    - Blood Adv. 2017 Dec 21;1(27):2776-2780. doi: 10.1182/bloodadvances.2017011957. eCollection 2017 Dec

Enlace a la Editora de la Revista http://dx.doi.org/10.1182/bloodadvances.2017011957

AUTORES / AUTHORS: - Culp-Hill R et al.

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - Red blood cells (RBCs) are the most abundant cell in the human body. During their approximately 120-day life span in the circulatory system, RBCs release oxygen to all human tissues while being exposed to tissue metabolic activity. Owing to the relative simplicity of their intrinsic metabolism and the abundance of metabolite transporters in RBC membranes, the metabolism of mature erythrocytes indirectly mirrors systemic metabolic homeostasis and its alterations as a function of physiological factors, such as aging. Trisomy 21 (T21), the etiological factor of Down syndrome (DS), has been shown to cause chronic autoinflammation, promoting alterations in RBC life span, size (macrocytosis), and redox homeostasis. Here, we provide the first mass spectrometry-based relative and absolute quantitative metabolomic description of human RBCs from volunteer disomic and trisomic donors (n = 97). The results indicate a widespread deregulation of T21 RBC metabolism, including significant intracellular accumulation of lactate, amino acids (except methionine), purine catabolites, glutathione metabolites, carboxylic acids, bile acids (especially conjugated ones), and acyl-conjugated carnitines. These changes may underlie some of the well-established comorbidities in DS. Finally, we identify sex- and/or T21-specific metabolic signatures of aging.

MOLECULAR BIOLOGY/BIOCHEMISTRY - BIOLOGÍA MOLECULAR/BIOQUÍMICA

TÍTULO / TITLE:    - Down Syndrome Critical Region 1 Gene, Rcan1, Helps Maintain a More Fused Mitochondrial Network. LINK: Link to its Abstract

REVISTA / JOURNAL:    - Circ Res. 2018 Jan 23. pii: CIRCRESAHA.117.311522. doi: 10.1161/CIRCRESAHA.117.311522

Enlace a la Editora de la Revista http://dx.doi.org/10.1161/CIRCRESAHA.117.311522

AUTORES / AUTHORS: - Parra VM; ... Rothermel BA

INSTITUCIÓN / INSTITUTION: - Advanced Center for Chronic Diseases and Center for Molecular Studies of the Cell, University of Chile.   beverly.rothermel@utsouthwestern.edu

RESUMEN / SUMMARY: - Rationale: The Regulator of Calcineurin 1 (RCAN1) inhibits calcineurin (CN), a Ca(2+)-activated protein phosphatase important in cardiac remodeling. In humans, RCAN1 is located on chromosome 21 in proximity to the “Down syndrome critical region.” The hearts and brains of Rcan1 KO mice are more susceptible to damage from ischemia/reperfusion (I/R), however, the underlying cause is not known. Objective: Mitochondria are key mediators of I/R damage. The goal of these studies was to determine the impact of RCAN1 on mitochondrial dynamics and function. Methods and Results: Using both neonatal and isolated adult cardiomyocytes, we show that, when RCAN1 is depleted, the mitochondrial network is more fragmented due to increased CN-dependent activation of the fission protein, Dynamin-1-Like (DRP1). Mitochondria in RCAN1-depleted cardiomyocytes have reduced membrane potential, O2 consumption, and generation of reactive oxygen species, as well as a reduced capacity for mitochondrial Ca(2+) uptake. RCAN1-depleted cardiomyocytes were more sensitive to I/R, however, pharmacological inhibition of CN, DRP1, or calpains (Ca(2+)-activated proteases) restored protection, suggesting that, in the absence of RCAN1, calpain-mediated damage following I/R is greater due to a decrease in the capacity of mitochondria to buffer cytoplasmic Ca(2+) Increasing RCAN1 levels by adenoviral infection was sufficient to enhance fusion and confer protection from I/R. To examine the impact of more modest, and biologically relevant, increases in RCAN1, we compared the mitochondrial network in induced pluripotent stem cells (iPSC) derived from individuals with Down syndrome to that of isogenic, disomic controls. Mitochondria were more fused and O2 consumption was greater in the trisomic iPSC, however, coupling efficiency and metabolic flexibility was compromised compared to disomic. Depletion of RCAN1 from trisomic iPSC was sufficient to normalize mitochondrial dynamics and function. Conclusions: RCAN1 hel

NEUROBIOLOGY - NEUROBIOLOGÍA

TÍTULO / TITLE:    - Cerebellar alterations in a model of Down syndrome: The role of the Dyrk1A gene.

REVISTA / JOURNAL:    - Neurobiol Dis. 2018 Feb;110:206-217. doi: 10.1016/j.nbd.2017.12.002. Epub 2017 Dec 5.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.nbd.2017.12.002

AUTORES / AUTHORS: - Garcia-Cerro S; Vidal V; Lantigua S; Berciano MT; Lafarga M; Ramos-Cabrer P; Padro D; Rueda N; Martinez-Cue C;

INSTITUCIÓN / INSTITUTION: - Department of Physiology and Pharmacology, Faculty of Medicine, University of Cantabria, Santander 39011, España.   martinec@unican.es

RESUMEN / SUMMARY: - Down syndrome (DS) is characterized by a marked reduction in the size of the brain and cerebellum. These changes play an important role in the motor alterations and cognitive disabilities observed in this condition. The Ts65Dn (TS) mouse, the most commonly used model of DS, reflects many DS phenotypes, including alterations in cerebellar morphology. One of the genes that is overexpressed in both individuals with DS and TS mice is DYRK1A/Dyrk1A (dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A), which has been implicated in the altered cerebellar structural and functional phenotypes observed in both populations. The aim of this study was to evaluate the effect of Dyrk1A on different alterations observed in the cerebellum of TS animals. TS mice were crossed with Dyrk1A +/- KO mice to obtain mice with a triplicate segment of Mmu16 that included Dyrk1A (TS +/+/+), mice with triplicate copies of the same genes that carried only two copies of Dyrk1A (TS +/+/-), euploid mice that expressed a normal dose of Dyrk1A (CO +/+) and CO animals with a single copy of Dyrk1A (CO +/-). Male mice were used for all experiments. The normalization of the Dyrk1A gene dosage did not rescue the reduced cerebellar volume. However, it increased the size of the granular and molecular layers, the densities of granular and Purkinje cells, and dendritic arborization. Furthermore, it improved the excitatory/inhibitory balance and walking pattern of TS +/+/- mice. These results support the hypothesis that Dyrk1A is involved in some of the structural and functional cerebellar phenotypes observed in the TS mouse model.

TÍTULO / TITLE:    - The GABAAalpha5-selective Modulator, RO4938581, Rescues Protein Anomalies in the Ts65Dn Mouse Model of Down Syndrome.

REVISTA / JOURNAL:    - Neuroscience. 2017 Dec 29. pii: S0306-4522(17)30928-4. doi: 10.1016/j.neuroscience.2017.12.038.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.neuroscience.2017.12.038

AUTORES / AUTHORS: - Block A; Ahmed MM; Rueda N; Hernandez MC; Martinez-Cue C; Gardiner KJ.

INSTITUCIÓN / INSTITUTION: - Linda Crnic Institute for Down Syndrome, University of Colorado Denver School of Medicine, USA.   katheleen.gardiner@ucdenver.edu

RESUMEN / SUMMARY: - Down syndrome (DS), trisomy of human chromosome 21 (Hsa21), is the most common genetic cause of intellectual disability (ID). There are no treatments for the cognitive deficits. The Ts65Dn is a partial trisomy mouse model of DS that shows learning and memory (LM) impairments and other abnormalities relevant to those seen in DS. Many drugs and small molecules have been shown to rescue the LM deficits, but little is known about the associated molecular responses. Here, patterns of protein expression are described in hippocampus of Ts65Dn and euploid littermate controls exposed to a battery of LM and behavior tests with and without chronic treatment with the GABAA receptor alpha5 subunit-selective negative allosteric modulator, RO4938581, that rescued LM deficits. Levels of 91 proteins/protein modifications, selected for relevance to LM and synaptic plasticity, were measured: 44 of 52 abnormalities present in vehicle-treated Ts65Dn were corrected by RO4938581. Superimposing protein data onto the molecular pathway defining long-term potentiation (LTP) shows that profiles are consistent with both abnormal LTP in vehicle-treated Ts65Dn and its observed rescue by RO4938581. Lastly, comparing these results with those from Ts65Dn treated, using a different protocol, with the NMDA receptor antagonist, memantine, that also rescues LM impairments, identifies common and divergent responses to the two drugs. Expansion of this approach to include additional drugs and DS models would aid in determining critical protein abnormalities and in identifying cocktails of drugs and/or new drug targets that would be effective in clinical trials for ID in DS.

TÍTULO / TITLE:    - A third copy of the Down syndrome cell adhesion molecule (Dscam) causes synaptic and locomotor dysfunction in Drosophila.

REVISTA / JOURNAL:    - Neurobiol Dis. 2018 Feb;110:93-101. doi: 10.1016/j.nbd.2017.11.013. Epub 2017 Nov 28.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.nbd.2017.11.013

AUTORES / AUTHORS: - Lowe SA; ... Usowicz MM

INSTITUCIÓN / INSTITUTION: - m.m.usowicz@bristol.ac.uk   School of Physiology, Pharmacology and Neuroscience, University of Bristol, University Walk, Bristol BS8 1TD, UK.

RESUMEN / SUMMARY: - Down syndrome (DS) is caused by triplication of chromosome 21 (HSA21). It is characterised by intellectual disability and impaired motor coordination that arise from changes in brain volume, structure and function. However, the contribution of each HSA21 gene to these various phenotypes and to the causal alterations in neuronal and synaptic structure and function are largely unknown. Here we have investigated the effect of overexpression of the HSA21 gene DSCAM (Down syndrome cell adhesion molecule), on glutamatergic synaptic transmission and motor coordination, using Drosophila expressing three copies of Dscam1. Electrophysiological recordings of miniature and evoked excitatory junction potentials at the glutamatergic neuromuscular junction of Drosophila larvae showed that the extra copy of Dscam1 changed the properties of spontaneous and electrically-evoked transmitter release and strengthened short-term synaptic depression during high-frequency firing of the motor nerve. Behavioural analyses uncovered impaired locomotor coordination despite preserved gross motor function. This work identifies DSCAM as a candidate causative gene in DS that is sufficient to modify synaptic transmission and synaptic plasticity and cause a DS behavioural phenotype.

TÍTULO / TITLE:    - Proteomic analysis of six- and twelve-month hippocampus and cerebellum in a murine Down syndrome model.

REVISTA / JOURNAL:    - Neurobiol Aging. 2017 Nov 26;63:96-109. doi: 10.1016/j.neurobiolaging.2017.11.010.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.neurobiolaging.2017.11.010

AUTORES / AUTHORS: - Vacano GN; ... Patterson D;

INSTITUCIÓN / INSTITUTION: - Knoebel Institute for Healthy Aging, Eleanor Roosevelt Institute, and Department of Biological Sciences, University of Denver, Denver, CO, USA.   David.Patterson@du.edu

RESUMEN / SUMMARY: - This study was designed to investigate the brain proteome of the Ts65Dn mouse model of Down syndrome. We profiled the cerebellum and hippocampus proteomes of 6- and 12-month-old trisomic and disomic mice by difference gel electrophoresis. We quantified levels of 2082 protein spots and identified 272 (170 unique UniProt accessions) by mass spectrometry. Four identified proteins are encoded by genes trisomic in the Ts65Dn mouse. Three of these (CRYZL11, EZR, and SOD1) were elevated with p-value <0.05, and 2 proteins encoded by disomic genes (MAPRE3 and PHB) were reduced. Intergel comparisons based on age (6 vs. 12 months) and brain region (cerebellum vs. hippocampus) revealed numerous differences. Specifically, 132 identified proteins were different between age groups, and 141 identified proteins were different between the 2 brain regions. Our results suggest that compensatory mechanisms exist, which ameliorate the effect of trisomy in the Ts65Dn mice. Differences observed during aging may play a role in the accelerated deterioration of learning and memory seen in Ts65Dn mice.

TÍTULO / TITLE:    - Aerobic exercise and a BDNF-mimetic therapy rescue learning and memory in a mouse model of Down syndrome.

REVISTA / JOURNAL:    - Sci Rep. 2017 Dec 4;7(1):16825. doi: 10.1038/s41598-017-17201-8.

Enlace a la Editora de la Revista http://dx.doi.org/10.1038/s41598-017-17201-8

AUTORES / AUTHORS: - Parrini M ... Contestabile A

INSTITUCIÓN / INSTITUTION: - Department of Neuroscience and Brain Technologies, Istituto Italiano di Tecnologia, Genova, Italy.  

RESUMEN / SUMMARY: - Down syndrome (DS) is caused by the triplication of human chromosome 21 and represents the most frequent genetic cause of intellectual disability. The trisomic Ts65Dn mouse model of DS shows synaptic deficits and reproduces the essential cognitive disabilities of the human syndrome. Aerobic exercise improved various neurophysiological dysfunctions in Ts65Dn mice, including hippocampal synaptic deficits, by promoting synaptogenesis and neurotransmission at glutamatergic terminals. Most importantly, the same intervention also prompted the recovery of hippocampal adult neurogenesis and synaptic plasticity and restored cognitive performance in trisomic mice. Additionally, the expression of brain-derived neurotrophic factor (BDNF) was markedly decreased in the hippocampus of patients with DS. Since the positive effect of exercise was paralleled by increased BDNF expression in trisomic mice, we investigated the effectiveness of a BDNF-mimetic treatment with 7,8-dihydroxyflavone at alleviating intellectual disabilities in the DS model. Pharmacological stimulation of BDNF signaling rescued synaptic plasticity and memory deficits in Ts65Dn mice. Based on our findings, Ts65Dn mice benefit from interventions aimed at promoting brain plasticity, and we provide evidence that BDNF signaling represents a potentially new pharmacological target for treatments aimed at rescuing cognitive disabilities in patients with DS.

TÍTULO / TITLE:    - Lithium restores age-related olfactory impairment in the Ts65Dn mouse model of Down syndrome

REVISTA / JOURNAL:    - (2017) CNS and Neurological Disorders - Drug Targets, 16 (7), pp. 812-819.

AUTORES / AUTHORS: - Guidi, S., Bianchi, P., Stagni, F., Giacomini, A., Emili, M., Trazzi, S., Ciani, E., Bartesaghi, R.

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - Background & Objective: Down syndrome, a genetic condition caused by triplication of chromosome 21, is characterized by widespread neurogenesis reduction and cognitive impairment. Unlike other brain functions, smell is not impaired at early life stages and olfactory deterioration begins to appear in adulthood. Similarly to individuals with Down syndrome, in the Ts65Dn mouse model of Down syndrome smell function is normal at early life stages. Smell impairment only appears in adulthood associated with a reduction in the number of new granule neurons migrated to the olfactory bulb from the subventricular zone. Based on evidence that lithium positively impacts neurogenesis, the goal of current study was to establish whether treatment with lithium restores olfactory bulb neurogenesis and olfactory performance in middle-aged Ts65Dn mice. Method: Euploid and Ts65Dn mice aged 13 months were treated with lithium chow or control chow for one month. Before the end of treatment, mice were injected with BrdU, in order to label proliferating cells. Results showed that in Ts65Dn mice lithium treatment restored the number of neural precursor cells in the subventricular zone of the lateral ventricle, rostral migratory stream and olfactory bulb. This effect was accompanied by restoration of olfactory performance. Unlike in olfactory neurogenic regions, treatment had no neurogenesis-enhancing effect on the subgranular zone of the hippocampal dentate gyrus, indicating that lithium has no generalized positive effect on the brain. Conclusion: Results suggest that lithium may have a positive impact in brain disorders that, similarly to Down syndrome, are characterized by olfactory decline and neurogenesis impairment in the subventricular zone.

TÍTULO / TITLE:    - Local translation of the Down syndrome cell adhesion molecule (DSCAM) mRNA in the vertebrate central nervous system.

REVISTA / JOURNAL:    - (2017) J ournal of Neurogenetics, 31 (4), pp. 223-230.

AUTORES / AUTHORS: - Montesinos, M.L.

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - Local translation of synaptic mRNAs is an important process related to key aspects of central nervous system development and physiology, including dendritogenesis, axonal growth cone morphology and guidance and synaptic plasticity. Accordingly, local translation is compromised in several intellectual disabilities, including Fragile X syndrome, tuberous sclerosis and Down syndrome. Down Syndrome Cell Adhesion Molecule (DSCAM) is a gene with ascribed functions in neuronal wiring that belongs to the Down Syndrome Critical Region (DSCR) of chromosome 21. In this review, we discuss the evidence for local translation of the DSCAM mRNA in dendrites and axonal growth cones of mouse hippocampal neurons, as well as the possible functions of the locally translated DSCAM protein.

TÍTULO / TITLE:    - Subarachnoid space diameter in chromosomally abnormal fetuses at 11–13 weeks’ gestation

REVISTA / JOURNAL:    - (2018) Journal of Maternal-Fetal and Neonatal Medicine, pp. 1-5. Article in Press. 

AUTORES / AUTHORS: - Ferreira, C., Rouxinol-Dias, A.L., Loureiro, T., Nicolaides, K.

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - Objectives: To examine the subarachnoid space diameters in chromosomally abnormal fetuses at 11–13 weeks’ gestation. Methods: Stored three-dimensional (3D) ultrasound volumes of the fetal head at 11–13 weeks’ gestation from 407 euploid and 88 chromosomally abnormal fetuses (trisomy 21, n = 40; trisomy 18, n = 19; trisomy 13, n = 7; triploidy, n = 14; Turner syndrome, n = 8) were analyzed. The subarachnoid space diameters, measured in the sagittal and transverse planes of the fetal head, in relation to biparietal diameter (BPD) in each group of aneuploidies was compared to that in euploid fetuses. A total of 20 head volumes were randomly selected and all the measurements were recorded by two different observers to examine the interobserver variability in measurements. Results: In euploid fetuses, the anteroposterior, transverse and sagittal diameters of the subarachnoid space increased with BPD. The median of the observed to expected diameters for BPD were significantly increased in triploidy and trisomy 13 but were not significantly altered in trisomies 21 and 18 or Turner syndrome. In triploidy, the subarachnoid space diameters for BPD were above the 95th centile of euploid fetuses in 92.9% (13 of 14) cases. The intraclass reliability or agreement was excellent for all three subarachnoid space diameters. Conclusion: Most fetuses with triploidy at 11–13 weeks’ gestation demonstrate increased subarachnoid space diameters.

NEUROLOGY - NEUROLOGÍA

TÍTULO / TITLE:    - Inflammatory biomarkers and intellectual disability in patients with Down syndrome.

REVISTA / JOURNAL:    - J Intellect Disabil Res. 2018 Jan 19. doi: 10.1111/jir.12470.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/jir.12470

AUTORES / AUTHORS: - Manti S et al.

INSTITUCIÓN / INSTITUTION: - Department of Human Pathology of Adult and Developmental Age ‘Gaetano Barresi’, University Hospital of Messina, Italy.  

RESUMEN / SUMMARY: - BACKGROUND: Intellectual disability (ID) is part of the Down syndrome (DS) phenotypic spectrum, but the exact molecular pathophysiology of ID in individuals with DS is not yet fully understood, with many research hypotheses still unproven. Basing on previous studies (which suggested a possible role of altered inflammatory response in DS-related ID), we assessed the serum levels of a number of inflammatory biomarkers [serum amyloid A (SAA), C-reactive protein (C-RP), high mobility group box-1 (HMGB1)] in a cohort of individuals with DS and healthy controls. METHODS: In total, 24 children diagnosed with DS and 12 healthy controls were enrolled, and all underwent detailed cognitive assessment. Also, serum SAA, C-RP and HMGB1 levels were measured in all recruited subjects and correlated to the severity of ID in the DS group. RESULTS: Serum SAA, C-RP and HMGB1 values were found to be significantly higher in the DS group compared with the healthy subjects (P = 0.001). In addition, serum HMGB1 levels positively correlated with C-RP and SAA in the DS group but not in the healthy controls. Only serum C-RP levels resulted inversely correlated (P < 0.01) with intelligence quotient (IQ); conversely, significant statistical correlations between serum SAA levels and IQ (as well as between HMGB1 and IQ) have been not found (P > 0.05). CONCLUSIONS: The levels of the determined markers were higher in DS individuals compared with (cognitively) healthy subjects, and CRP showed a negative correlation with IQ in children with DS.

TÍTULO / TITLE:    - Cerebral vasoreactivity and intima-media thickness in Down syndrome: A case-control study

REVISTA / JOURNAL:    - (2018) Journal of the Neurological Sciences, 385, pp. 57-63.

AUTORES / AUTHORS: - Colella, M., Stilo, C., Cocchella, A., Bianchini, D., Pilotto, A., Del Sette, P., Musolino, R.

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - Subjects with Down Syndrome (DS) have high prevalence of cerebral vascular amyloidosis, cognitive decline and dementia. In Alzheimer Disease, impaired vasoreactivity has been reported as the results of vascular amyloid deposition. Aim of our study was to verify presence of impaired cerebral vasoreactivity and to study carotid intima media-thickness (IMT) by carotid and transcranial ultrasound. We studied 25 DS and compared them with 25 age- and sex-matched normal controls. Vasomotor reactivity was evaluated by means of breath-holding index (BHI) test. There was no difference in IMT, both considering the two side separately (left: 0.70 ± 0.10 vs 0.69 ± 0.12 mm, p = 0.6) (right: 0.67 ± 0.13 vs 0.68 ± 0.10 mm, p = 0.5), and considering the sum of both sides (1.38 ± 0.22 vs 1.38 ± 0.23 mm, p = 1). There was a significant difference in peak systolic velocities (PSV) (139.75 ± 27.67 vs. 123.89 ± 25.73 cm/s, p = 0.04) and in pulsatility index (PI) (0.95 ± 0.14 vs. 0.86 ± 0.12, p = 0.02). BHI was significantly lower in DS than in controls (1.15 ± 0.38 vs 1.88 ± 0.72, p < 0.001). In conclusion, subjects with DS have increased PSV and PI, and show a reduction of BHI, expression of impaired vasomotor reserve, possibly due to micro-vascular impairment. Larger study with longitudinal design is needed to verify our data.

ORTHOPEDICS - ORTOPEDÍA

TÍTULO / TITLE:    - Increased prevalence of abnormal vertebral patterning in fetuses and neonates with trisomy 21.

REVISTA / JOURNAL:    - J Matern Fetal Neonatal Med. 2018 Jan 21:1-11. doi: 10.1080/14767058.2018.1431622.

Enlace a la Editora de la Revista http://dx.doi.org/10.1080/14767058.2018.1431622

AUTORES / AUTHORS: - Schut PC; et al.

INSTITUCIÓN / INSTITUTION: - a Department of Obstetrics and Gynecology , Erasmus MC University Medical Center , Division of Obstetrics and Prenatal Medicine , PO Box 2040, Rotterdam , Rotterdam , The Netherlands.  

RESUMEN / SUMMARY: - PURPOSE: To assess the prevalence of an abnormal number of ribs in a cohort of fetuses and neonates with trisomy 21 and compare this with a subgroup of fetuses without anomalies. MATERIALS AND METHODS: Radiographs of 67 deceased fetuses, neonates and infants that were diagnosed with trisomy 21 were reviewed. Terminations of pregnancy were included. The control group was composed of 107 deceased fetuses, neonates and infants without known chromosomal abnormalities, structural malformations, infections or placental pathology. Cases in which the number of thoracic ribs or presence of cervical ribs could not be reliably assessed were excluded. The literature concerning vertebral patterning in trisomy 21 cases and healthy subjects was reviewed. RESULTS: Absent or rudimentary 12th thoracic ribs were found in 26/54 (48.1%) cases with trisomy 21 and cervical ribs were present in 27/47 (57.4%) cases. This prevalence was significantly higher compared to controls (28/100, 28.0%, Chi(2)(1) = 6.252, p = 0.012 and 28/97, 28.9%, Chi(2)(1) = 10.955, p < 0.001 respectively). CONCLUSIONS: Rudimentary or absent 12th thoracic ribs and cervical ribs are significantly more prevalent in deceased fetuses and infants with trisomy 21.

PHYSIOTHERAPY - FISIOTERAPIA

TÍTULO / TITLE:    - Pedometer-determined physical activity levels of healthy children and children with Down’s syndrome.

REVISTA / JOURNAL:    - Somatosens Mot Res. 2018 Jan 3:1-7. doi: 10.1080/08990220.2017.1415880.

Enlace a la Editora de la Revista http://dx.doi.org/10.1080/08990220.2017.1415880

AUTORES / AUTHORS: - Alhusaini AA; et al.

INSTITUCIÓN / INSTITUTION: - a Department of Rehabilitation Health Sciences, College of Applied Medical Sciences , King Saud University , Riyadh , Saudi Arabia.  

RESUMEN / SUMMARY: - PURPOSE: Children with Down’s syndrome (DS) are considered sedentary and less engaged in recommended physical activity (PA) levels. This study compared the PA levels between children with DS and healthy children in Saudi Arabia. METHODS: The study included 85 children divided into two groups. The DS group comprised 37 children with DS aged 8-12 years recruited from the Down Syndrome Charitable Association and Al-Nahda Schools for DS. The healthy group comprised 41 healthy children aged 8-12 years recruited from regular schools in the same region. PA levels were measured over 7 days using a pedometer. RESULTS: The healthy group was more active than the DS group (p < 0.05). The total PA steps per minute had significant differences between the DS (M = 7.979, SD = 2.21) and healthy groups (M = 17.512, SD = 3.08; p < 0.05). The daily step count differed significantly on weekdays and weekends between the groups (p < 0.05). CONCLUSIONS: The DS group had a high body mass index and physical inactivity compared with the second group. Obesity and physical inactivity among Saudi Arabian children with and without DS are major health concerns. Therefore, concerted efforts are needed to combat childhood obesity, promote PA, improve patient quality of life, and reduce the sedentary lifestyle among Saudi children and adolescents.

TÍTULO / TITLE:    - Effects of whole-body vibration on muscle strength, bone mineral content and density, and balance and body composition of children and adolescents with Down syndrome: a systematic review.

REVISTA / JOURNAL:    - Osteoporos Int. 2018 Jan 12. pii: 10.1007/s00198-017-4360-1. doi: 10.1007/s00198-017-4360-1.

Enlace a la Editora de la Revista http://dx.doi.org/10.1007/s00198-017-4360-1

AUTORES / AUTHORS: - Saquetto MB; et al

INSTITUCIÓN / INSTITUTION: - Departamento de Fisioterapia, Instituto de Ciencias da Saude, Curso de Fisioterapia da Universidade Federal da Bahia - UFBA, Av. Reitor Miguel Calmon s/n - Vale do Canela, Salvador, BA, 40110-100, Brazil.   msaquetto@ufba.br

RESUMEN / SUMMARY: - The aim of this study is to verify the effects of whole-body vibration (WBV) training on the muscle strength of children and adolescents with Down syndrome. We searched MEDLINE, Cochrane, SciELO, Lilacs and PUBMED databases and included manual searches to identify randomised controlled trials to investigate the effects of WBV on the structure and body function of children and adolescents with Down syndrome. Two reviewers independently selected the studies and performed statistical analysis. In total, five studies with 171 patients that compared WBV with exercise and/or control were included. Two studies demonstrated a significant difference between the muscle strength of children and adolescents with Down syndrome who received WBV training and that of those who did not receive the intervention. The studies included in this systematic review showed that WBV training has positive effects on bone mineral density (BMD), body composition and balance. Results of this study showed that WBV training improves muscle strength, BMD, body composition and balance of children and adolescents with Down syndrome, and a more in-depth analysis of its effects on other variables in this population is required, as well as of parameters to be used.

TÍTULO / TITLE:    - Fundamental movement skills and balance of children with Down syndrome.

REVISTA / JOURNAL:    - J Intellect Disabil Res. 2017 Dec 5. doi: 10.1111/jir.12458.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/jir.12458

AUTORES / AUTHORS: - Capio CM; et al

INSTITUCIÓN / INSTITUTION: - Te Huataki Waiora Faculty of Health, Sport and Human Performance, University of Waikato, New Zealand.;School of Public Health, The University of Hong Kong, Hong Kong.  

RESUMEN / SUMMARY: - Conclusive evidence supports the importance of fundamental movement skills (FMS) proficiency in promoting physical activity and countering obesity. In children with Down Syndrome (DS), FMS development is delayed, which has been suggested to be associated with balance deficits. This study therefore examined the relationship between FMS proficiency and balance ability in children with DS, with the aim of contributing evidence to programmes that address FMS delay. METHODS: Participants consisted of 20 children with DS (7.1 +/- 2.9 years old) and an age-matched control group of children with typical development (7.25 +/- 2.5 years). In the first part of the study, FMS (i.e. locomotor and object control) proficiency of the children was tested using the Test of Gross Motor Development-2. Balance ability was assessed using a force platform to measure centre of pressure average velocity (AV; mm/sec), path length (mm), medio-lateral standard deviation (mm) and antero-posterior standard deviation (mm). In the second part of the study, children with DS participated in 5 weeks of FMS training. FMS proficiency and balance ability were tested post-training and compared to pre-training scores. Verbal and visuo-spatial short-term memory capacities were measured at pre-training to verify the role of working memory in skill learning. RESULTS: FMS proficiency was associated with centre of pressure parameters in children with DS but not in children with typical development. After controlling for age, AV was found to predict significant variance in locomotor (R(2) = 0.61, P < 0.001) and object control (R(2) = 0.69, P < 0.001) scores. FMS proficiency and mastery improved after FMS training, as did AV, path length and antero-posterior standard deviation (all P< 0.05). Verbal and visuo-spatial short-term memory did not interact with the effects of training. CONCLUSIONS: Children with DS who have better balance ability tend to have more proficient FMS. Skill-specific training improved not o

TÍTULO / TITLE:    - A community-based exercise program to increase participation in physical activities among youth with disability: a feasibility study

REVISTA / JOURNAL:    - (2018) Disability and Rehabilitation, pp. 1-8. Article in Press. 

AUTORES / AUTHORS: - Shields, N., van den Bos, R., Buhlert-Smith, K., Prendergast, L., Taylor, N.

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - Purpose: To evaluate the feasibility of a student-mentored community-based exercise program for youth with disability. Method: Nineteen youth (nine female; mean age 18 years) with disability (seven cerebral palsy, six Down syndrome, three spina bifida, two autism spectrum disorder, one spinal cord injury) were recruited. Each participant was matched with a student mentor and exercised twice a week for 12 weeks at their local gymnasium. Five domains of feasibility were assessed: demand, implementation, practicality, limited efficacy testing, and acceptability. Results: Demand comprised 55 expressions of interest. Demonstrating evidence of implementation, 91% of scheduled sessions were attended and training fidelity (comparing training load in weeks 1 and 12) showed exercise intensity significantly increased for strength and aerobic exercises. The program was practical with no major and 17 minor adverse events (e.g., muscle soreness). Limited efficacy testing was demonstrated by increased arm (4 kg, 95% CI: 1–7) and leg strength (43 kg, 95% CI: 24–62), walking endurance (80 m, 95% CI: 24–137), and improvement in three dimensions of health-related quality of life (autonomy, physical, and psychological well-being). The program was accepted very positively by participants. Conclusions: A student-mentored community-based exercise program feasibly engages youth with disability in community-based exercise. Implications for Rehabilitation A 12-week community-based student-mentored exercise program for youth with disability is feasible. Exercising in a real-world setting with a student mentor has a positive effect on physical and psychological well-being of youth with disability.

TÍTULO / TITLE:    - Mechanical work and power analysis in the joints of the lower extremity of adults with down syndrome during plane walking

REVISTA / JOURNAL:    - (2017) ASME International Mechanical Engineering Congress and Exposition, Proceedings (IMECE), 3, . 

AUTORES / AUTHORS: - Taebi, A., Zago, M., Condoluci, C., Galli, M.

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - Individuals with Down syndrome (DS) use a different motor gait strategy than healthy people. This study aims at analyzing plane walking differences between two groups of normally developed (ND) subjects and subjects with DS in terms of the generated mechanical power and work in the joints of the lower limb. Thirty-nine adults including two groups of 21 subjects with DS (age: 21.6 ± 7 years (mean ± SD)) and 18 ND subjects (age: 25.1 ± 2.4 years) participated in this study. Gait data and ground reaction forces were acquired using a quantitative movement analysis system composed of an optoelectronic motion analyzer (Elite2002, BTS) with eight infrared cameras, and two force platforms mounted in the middle of walkway. Mechanical power and work exchanges were computed during the stance phase by dedicated software, and then compared between the two groups (significance level: p-value = 0.05). Results showed that the mechanical power at the ankle joint was significantly larger in ND subjects compared to subjects with DS (0.084 ± 0.015 vs 0.027 ± 0.010 W/kg). The mechanical work of the ankle joint and the knee joint was significantly lower in ND compared to DS (0.015 ± 0.013 vs 0.028 ± 0.008 kJ/kg.m, and 0.066 ± 0.031 vs 0.109 ± 0.023 kJ/kg.m, respectively). For both groups, the mechanical work done by knee was less than that performed at the ankle and hip level, which might indicate that the knee muscles mainly absorb the energy, rather than generate it. Our results suggest that the subjects with DS walk with a different motor strategy than normal subjects in terms of mechanical power and work in the joints of the lower extremity. Further investigations are warranted to study the relation between these parameters and gait strategy in subjects with DS, which can lead to better rehabilitative strategies.

PRENATAL DIAGNOSIS - DIAGNÓSTICO

TÍTULO / TITLE:    - Impact of a shift in nuchal translucency measurements on the detection rate of first-trimester Down syndrome screening: A population-based study.

REVISTA / JOURNAL:    - Prenat Diagn. 2017 Dec 12. doi: 10.1002/pd.5193.

Enlace a la Editora de la Revista http://dx.doi.org/10.1002/pd.5193

AUTORES / AUTHORS: - Fries N; et al.

INSTITUCIÓN / INSTITUTION: - College Francais d’Echographie Foetale (CFEF), Montpellier, France.  

RESUMEN / SUMMARY: - OBJECTIVE: To assess the distribution of nuchal translucency (NT) measurements following a national policy without credentialing and its impact on first-trimester Down syndrome screening (DSS) detection rate. METHOD: All first-trimester DSS data recorded in France (2010-2014) were collected by the laboratories in charge via an Internet database (https://www.bionuqual.org/echo.php). There was no minimal requirement for image quality to allow sonographers to enter the screening process. A subgroup of DSS with complete DS follow-up corresponded to 1614 sonographers. Based on the distribution of maternal age, DS detection rate was calculated and split as a function of the distribution of NT multiple of the median (MoM). RESULTS: Four thousand nine hundred forty-three sonographers performed 2,337,372 NT measurements. Median NT expressed in MoM was 0.83. Screenings with complete follow-up consisted of 197,417 screenings, in which DSS detection rates were respectively 70.4%, 70.9%, 79.4%, 87.7%, and 79.5% for the following median NT MoM ranges: <0.7, 0.70 to 0.79, 0.80 to 0.89, 0.90 to 0.99, and >0.99 (trend chi = 12.21; P = .0158). CONCLUSION: In France, following a policy of quality assessment without standardized credentialing, the distribution of NT measurements did not fit the expected distribution. Down syndrome detection rate was 10% lower in screenings by sonographers with a median NT < 0.80 MoM.

TÍTULO / TITLE:    - Chromosome Screening Using Noninvasive Prenatal Testing Beyond Trisomy-21: What to Screen for and Why It Matters.

REVISTA / JOURNAL:    - J Med Philos. 2018 Jan 12;43(1):8-21. doi: 10.1093/jmp/jhx030.

Enlace a la Editora de la Revista http://dx.doi.org/10.1093/jmp/jhx030

AUTORES / AUTHORS: - Hens K;

INSTITUCIÓN / INSTITUTION: - Antwerp University, Antwerp, Leuven, Belgium.  

RESUMEN / SUMMARY: - With the new and highly accurate noninvasive prenatal test (NIPT), new options for screening become available. I contend that the current state of the art of NIPT is already in need of a thorough ethical investigation and that there are different points to consider before any chromosomal or subchromosomal condition is added to the screening panel of a publicly funded screening program. Moreover, the application of certain ethical principles makes the inclusion of some conditions unethical in a privately funded scheme, even if such screening would enhance a woman’s reproductive autonomy. On the one hand, a screening program aimed solely at the detection of Down syndrome is subject to the technological imperative and should be reassessed in the light of technologies that allow for the detection of conditions that are at least as severe. On the other hand, some chromosomal conditions should not be included in any screening programs, because this would violate certain ethical principles, such as the right of the future child to genetic privacy.

TÍTULO / TITLE:    - Cost-effectiveness of cell-free DNA in maternal blood testing for prenatal detection of trisomy 21, 18 and 13: a systematic review.

REVISTA / JOURNAL:    - Eur J Health Econ. 2017 Dec 16. pii: 10.1007/s10198-017-0946-y. doi: 10.1007/s10198-017-0946-y.

Enlace a la Editora de la Revista http://dx.doi.org/10.1007/s10198-017-0946-y

AUTORES / AUTHORS: - Garcia-Perez L et al

INSTITUCIÓN / INSTITUTION: - Servicio de Evaluacion, Servicio Canario de la Salud, Camino Candelaria N masculine 44, 1 feminine planta, El Rosario, 38109, Santa Cruz De Tenerife, Canary Islands, España.;  

RESUMEN / SUMMARY: - The aim of this paper was to conduct a systematic review of the cost-effectiveness of the analysis of cell-free DNA in maternal blood, often called the non-invasive prenatal test (NIPT), in the prenatal screening of trisomy in chromosomes 21, 18 and 13. MEDLINE, MEDLINE in process, EMBASE, and Cochrane Library were searched in April 2017. We selected: (1) economic evaluations that estimated the costs and detected cases of trisomy 21, 18 or 13; (2) comparisons of prenatal screening with NIPT (universal or contingent strategies) and the usual screening without NIPT, (3) in pregnant women with any risk of foetal anomalies. Studies were reviewed by two researchers. Data were extracted, the methodological quality was assessed and a narrative synthesis was prepared. In total, 12 studies were included, four of them performed in Europe. Three studies evaluated NIPT as a contingent test, three studies evaluated a universal NIPT, and six studies evaluated both. The results are heterogeneous, especially for the contingent NIPT where the results range from NIPT being dominant to a dominated strategy. Universal NIPT was found to be more effective but also costlier than the usual screening, with very high incremental cost-effectiveness ratios. One advantage of screening with NIPT is lower invasive procedure-related foetal losses than with usual screening. In conclusion, the cost-effectiveness of contingent NIPT is uncertain according to several studies, while the universal NIPT is not cost-effective currently.

TÍTULO / TITLE:    - Diagnostic Role of MicroRNA Expression Profile in the Prenatal Amniotic Fluid Samples of Pregnant Women with Down Syndrome.

REVISTA / JOURNAL:    - Balkan Med J. 2017 Dec 8. doi: 10.4274/balkanmedj.2017.0511.

Enlace a la Editora de la Revista http://dx.doi.org/10.4274/balkanmedj.2017.0511

AUTORES / AUTHORS: - Karaca E et al.

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - BACKGROUND: Down syndrome is the most common chromosomal anomaly in humans. Down syndrome is the most common chromosomal anomaly in humans affecting people from every race and age. Most of the cases are can be diagnosed by prenatal diagnostic methods in pregnancy. Due to the longtime of culture method applied for prenatal diagnosis, genetic analysis has been developed and developing for rapid diagnosis. For this reason, the effective use of miRNAs was investigated in the rapid analysis of prenatal samples with Down syndrome. AIMS: We evaluated the expression levels of 14 miRNAs, located on chromosome 21 in prenatal samples and their utility for prenatal testing of Down syndrome. STUDY DESIGN: Case-control study. METHODS: A total of 56 patients who underwent invasive prenatal testing, 23 carrying fetuses with DS; 33 control cases carrying fetuses with normal karyotype, were included. Indications for invasive prenatal testing were advanced maternal age and increased risk of Down syndrome in screening tests. Gestation weeks ranged between 17-18 in study and control groups. MicroRNA expression levels were measured by real-time-polymerase chain reaction. RESULTS: miR-125b-2, miR-155 and miR-3156 expression levels were significantly higher in prenatal samples. CONCLUSION: Significantly dysregulated miRNAs either may be associated with the phenotype or may be the result of abnormal development. Further large scale comparative studies carried out in a variety of conditions may bring novel insights in the field of abnormal conditions.

TÍTULO / TITLE:    - Prenatal diagnosis of Down syndrome: A 13-year retrospective study.

REVISTA / JOURNAL:    - Taiwan J Obstet Gynecol. 2017 Dec;56(6):731-735. doi: 10.1016/j.tjog.2017.10.004.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.tjog.2017.10.004

AUTORES / AUTHORS: - Vicic A; et al.

INSTITUCIÓN / INSTITUTION: - Department of Obstetrics and Gynecology, Clinical Hospital “Sveti Duh”, Zagreb, Croatia.   vicic.ana@gmail.com

RESUMEN / SUMMARY: - The aim of this study is to summarize the experience on prenatal diagnosis of Down syndrome. MATERIALS AND METHODS: The study includes a retrospective data analysis of 157 prenatally detected cases of Down syndrome, routinely diagnosed among 6448 prenatal investigations performed during a 13-year period (2002-2014) in a single tertiary center. RESULTS: The prevalence of diagnosed Down syndrome cases was 2.4%. Maternal age alone was indication for prenatal diagnosis in 47 cases (45.2%), increased first-/second-trimester biochemical screening test in 34 cases (21.7%), abnormal ultrasound examination in 69 cases (43.9%), positive familial history for chromosomal abnormalities in four cases, and high risk for trisomy 21 revealed by cell-free DNA testing in three cases. Ultrasound anomalies were present in total of 94 fetuses (59.8%). The most common abnormality was cystic hygroma found in 46 cases (29.3%). A regular form of Down syndrome (trisomy 21) was found in 147 cases (93.6%), Robertsonian translocation in six cases (3.8%), and mosaic form in four cases (2.6%). CONCLUSION: In prenatal diagnosis of Down syndrome noninvasive screening methods are important for estimation of individual risks, in both, young population of woman and older mothers, while conventional and molecular cytogenetic methods are essential for definite diagnosis and proper genetic counseling.

TÍTULO / TITLE:    - Late-onset fetal bilateral pleural effusions associated with Down syndrome

REVISTA / JOURNAL:    - (2018) Taiwanese Journal of Obstetrics and Gynecology, . Article in Press. 

AUTORES / AUTHORS: - Lai, S.-T., Chen, C.-P., Lin, C.-J., Hsu, C.Y., Wu, P.-S., Lee, C.C., Pan, C.W., Wang, W.

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - Objective: We present two cases of late-onset bilateral fetal pleural effusions associated with fetal Down syndrome. Case reports: . Case . 1. A 33-year-old Vietnamese woman had undergone regular sonographic examinations since 23 weeks of gestation and no abnormality had been noted. However, bilateral moderate pleural effusions were found at 33 weeks of gestation, and massive pleural effusion, ascites and polyhydramnios developed at 34 weeks of gestation. Aspiration of the pleural effusion was subsequently performed. Clinical laboratory surveys of the aspiration fluid excluded toxoplasmosis and cytomegalovirus infection. Cytogenetic analysis of cultured lymphocytes derived from pleural effusion revealed a karyotype of 47,XX,+21. The parents elected to continue the pregnancy. Intrauterine fetal demise occurred at 37 weeks of gestation, and a macerated female baby was delivered. Postnatal cytogenetic analysis of the umbilical cord confirmed the prenatal diagnosis. . Case 2. A 41-year-old Pakistani woman had undergone regular sonographic examinations and no abnormality had been noted. However, isolated bilateral mild pleural effusions were noted at 27 weeks of gestation. Amniocentesis revealed a karyotype of 47,XY,+21 and simultaneous array comparative genomic hybridization analysis of uncultured amniocytes confirmed the diagnosis of Down syndrome. The pregnancy was subsequently terminated. Conclusion: Fetuses with Down syndrome may present late-onset bilateral pleural effusions. Prenatal diagnosis of late-onset bilateral pleural effusions should raise the possibility of fetal Down syndrome and cytogenetic investigation is warranted. © 2018.

TÍTULO / TITLE:    - National screening guidelines and developments in prenatal diagnoses and live births of Down syndrome in 1973-2016 in Denmark.

REVISTA / JOURNAL:    - Acta Obstet Gynecol Scand. 2018 Feb;97(2):195-203. doi: 10.1111/aogs.13273.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/aogs.13273

AUTORES / AUTHORS: - Lou S et al

INSTITUCIÓN / INSTITUTION: - Center for Fetal Diagnostics, Aarhus University Hospital, Aarhus, Denmark.; Fetal Medicine Unit, Department of Obstetrics and Gynecology, Aarhus University Hospital, Aarhus, Denmark.  

RESUMEN / SUMMARY: - INTRODUCTION: Denmark was the first country in the world to implement a national, free-for-all offer of prenatal screening for Down syndrome to all pregnant women. It has a high uptake (>90%) compared to other countries. Thus, Denmark offers an interesting case for investigating the consequences of implementing comprehensive, national prenatal screening guidelines. The aim of this study was to describe the historical developments in invasive procedures, pre-/postnatal diagnoses of Down syndrome and Down syndrome live births in the period 1973-2016 in Denmark. MATERIAL AND METHODS: Data on invasive procedures, pre- and postnatal Down syndrome diagnoses were retrieved from the Danish Cytogenetic Central Registry. RESULTS: From 1973 to 1993, screening based on maternal age and high-risk indications resulted in a constant increase in invasive procedures. After the introduction of the triple test in 1994, invasive procedures decreased for the first time in 20 years. Following the introduction of an offer of combined screening to all pregnant women in 2004, the number of invasive procedures decreased markedly, while there was a concurrent increase in prenatal diagnoses of Down syndrome. Additionally, the number of Down syndrome live births decreased suddenly and significantly, but subsequently stabilized at 23-35 annual live births. Of these, the majority were diagnosed postnatally. CONCLUSION: Though prenatal screening technologies constantly improve, it was the introduction of and adherence to national guidelines that resulted in marked shifts in screening procedures and outcome in Denmark.

TÍTULO / TITLE:    - What are the real purpose and scope of screening for aneuploidy? [Quels sont l`objectif réel et la portée du dépistage des aneuploïdies ?]

REVISTA / JOURNAL:    - (2018) Gynecologie Obstetrique Fertilite et Senologie, . Article in Press. 

AUTORES / AUTHORS: - Quibel, T., Rozenberg, P.

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - In France, the recommended method for Down syndrome screening is the first trimester combined test, the risk assessment, based on maternal age, ultrasound measurement of fetal nuchal translucency and maternal serum markers (free β-hCG and PAPP-A). The Down syndrome detection rate is 78.7% at a screen positive rate of 5%. However, the best screening test is the integrated test using a combination of first trimester combined test and second trimester quadruple test (serum ň-fetoprotein, human chorionic gonadotropin, unconjugated E3, and dimeric inhibin-A) and being able to achieve a detection rate for Down syndrome of approximately 96% at a screen-positive rate of 5%. In recent years, the isolation of small fragments of "fetal" cell-free DNA in the maternal blood dramatically changed the screening strategy paradigm allowing a Down syndrome detection rate and false positive rate of 99.2 and 0.09%, respectively. However, aneuploidy screening based on cell-free DNA presents two major limitations which must be taken into account because they considerably limit its benefit: (i) not every woman will receive an interpretable result and that those who fail to receive a result are at increased risk for fetal aneuploidy: whether an inconclusive result is treated as screen positive or screen negative affects the overall detection rate (sensitivity) and false-positive rate (specificity) of the test; (ii) the limited number of targeted aneuploidies (trisomies 21, 18, 13 and common sex chromosome aneuploidies) in contrast to conventional noninvasive screening which is also able to detect rare aneuploidies, duplications, deletions, and other structural rearrangements. Of course, genetic counseling has to include a discussion about benefits and limitations of aneuploidy screening based on cell-free DNA. However, it should not be considered as a new screening test to substitute for conventional noninvasive screening. Moreover, if the ultimate goal is to deliver the most info

TÍTULO / TITLE:    - Modified methylated DNA immunoprecipitation protocol for noninvasive prenatal diagnosis of Down syndrome.

REVISTA / JOURNAL:    - J Obstet Gynaecol Res. 2018 Jan 26. doi: 10.1111/jog.13577.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/jog.13577

AUTORES / AUTHORS: - Karami F et al

INSTITUCIÓN / INSTITUTION: - Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.  

RESUMEN / SUMMARY: - AIM: Methylated DNA immunoprecipitation real-time quantitative polymerase chain reaction (MeDIP-real-time qPCR) has been introduced as noninvasive prenatal test that has shown absolute detection rate in the screening of Down syndrome. Herein, we aimed to propose a novel modification of MeDIP-qPCR and assess its potential to alleviate the overall cost of the test, being used in very early weeks of pregnancy, and develop it to a noninvasive prenatal diagnosis biosensor in future researches. METHODS: Cell-free fetal DNA (cffDNA) isolated from 60 pregnant women, including 29 normal and 31 trisomy 21 pregnancies, were analyzed using proposed MeDIP protocol. Enriched methylated DNA sequences were amplified through real-time qPCR using eight fetal-specific primer pairs. The status of samples was determined through the calculation of D-value with the cutoff point of zero. RESULTS: The sensitivity and specificity of the MeDIP protocols using nanoparticles were 100% and 100%, respectively. CONCLUSION: Remarkable decrease in the price of MeDIP test per each patient would be a reasonable factor to confirm it on larger sample size. Moreover, the high detection rate of screening and the availability of the required instruments around the world make satisfactory reasons to be tested in earlier weeks of pregnancy, thanks to the high sensitivity of gold shell nanoparticles.

PSYCHIATRY - PSIQUIATRÍA

TÍTULO / TITLE:    - Links between sleep and daytime behaviour problems in children with Down syndrome.

REVISTA / JOURNAL:    - J Intellect Disabil Res. 2018 Feb;62(2):115-125. doi: 10.1111/jir.12463. Epub 2017 Dec 28.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/jir.12463

AUTORES / AUTHORS: - Esbensen AJ; et al.

INSTITUCIÓN / INSTITUTION: - Division of Developmental and Behavioral Pediatrics, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, USA.  

RESUMEN / SUMMARY: - In the general population, sleep problems have an impact on daytime performance. Despite sleep problems being common among children with Down syndrome, the impact of sleep problems on daytime behaviours in school-age children with Down syndrome is an understudied topic. Our study examined the relationship between parent-reported and actigraphy-measured sleep duration and sleep quality with parent and teacher reports of daytime behaviour problems among school-age children with Down syndrome. METHOD: Thirty school-age children with Down syndrome wore an actigraph watch for a week at home at night. Their parent completed ratings of the child’s sleep during that same week. Their parent and teacher completed a battery of measures to assess daytime behaviour. RESULTS: Parent reports of restless sleep behaviours on the Children’s Sleep Habits Questionnaire, but not actigraph-measured sleep efficiency, was predictive of parent and teacher behavioural concerns on the Nisonger Child Behaviour Rating Form and the Vanderbilt ADHD Rating Scales. Actigraph-measured sleep period and parent-reported sleep duration on the Children’s Sleep Habits Questionnaire was predictive of daytime parent-reported inattention. Actigraph-measured sleep period was predictive of parent-reported hyperactivity/impulsivity. CONCLUSION: The study findings suggest that sleep problems have complex relationships to both parent-reported and teacher-reported daytime behaviour concerns in children with Down syndrome. These findings have implications for understanding the factors impacting behavioural concerns and their treatment in school-age children with Down syndrome.

TÍTULO / TITLE:    - Convergent validity of actigraphy with polysomnography and parent reports when measuring sleep in children with Down syndrome.

REVISTA / JOURNAL:    - J Intellect Disabil Res. 2018 Jan 5. doi: 10.1111/jir.12464.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/jir.12464

AUTORES / AUTHORS: - Esbensen AJ et al.

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - There is a need for rigorous measures of sleep in children with Down syndrome as sleep is a substantial problem in this population and there are barriers to obtaining the gold standard polysomnography (PSG). PSG is cost-prohibitive when measuring treatment effects in some clinical trials, and children with Down syndrome may not cooperate with undergoing a PSG. Minimal information is available on the validity of alternative methods of assessing sleep in children with Down syndrome, such as actigraphy and parent ratings. Our study examined the concurrent and convergent validity of different measures of sleep, including PSG, actigraphy and parent reports of sleep among children with Down syndrome. METHOD: A clinic (n = 27) and a community (n = 47) sample of children with Down syndrome were examined. In clinic, children with Down syndrome wore an actigraph watch during a routine PSG. In the community, children with Down syndrome wore an actigraph watch for a week at home at night as part of a larger study on sleep and behaviour. Their parent completed ratings of the child’s sleep during that same week. RESULTS: Actigraph watches demonstrated convergent validity with PSG when measuring a child with Down syndrome’s total amount of sleep time, total wake time after sleep onset and sleep period efficiency. In contrast, actigraph watches demonstrated poor correlations with parent reports of sleep, and with PSG when measuring the total time in bed and total wake episodes. Actigraphy, PSG and parent ratings of sleep demonstrated poor concurrent validity with clinical diagnosis of obstructive sleep apnoea. CONCLUSION: Our current data suggest that actigraph watches demonstrate convergent validity and are sensitive to measuring certain sleep constructs (duration, efficiency) in children with Down syndrome. However, parent reports, such as the Children’s Sleep Habits Questionnaire, may be measuring other sleep constructs. These findings highlight the importance of selecting measu

QUALITY OF LIFE - CALIDAD DE VIDA

TÍTULO / TITLE:    - Genetic diagnosis of Down syndrome in an underserved community.

REVISTA / JOURNAL:    - Am J Med Genet A. 2018 Feb;176(2):483-486. doi: 10.1002/ajmg.a.38573. Epub 2017 Dec 26.

Enlace a la Editora de la Revista http://dx.doi.org/10.1002/ajmg.a.38573

AUTORES / AUTHORS: - Sobering AK et al.

INSTITUCIÓN / INSTITUTION: - Department of Biochemistry, St. George’s University School of Medicine, Grenada, West Indies.   Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.

RESUMEN / SUMMARY: - It is a matter of course that in high-income countries, infants born with features suggestive of Down syndrome (DS) are offered genetic testing for confirmation of a clinical diagnosis. Benefits of a definitive diagnosis include an end to the diagnostic odyssey, informed prognosis, opportunities for caregiver support, inclusion to social support networks, and more meaningful genetic counseling. The healthcare experience for families of children born with DS in low- and middle-income nations is in stark contrast with such a level of care. Barriers to obtaining genetic diagnosis might include economic disparities, geographical isolation, and lack of access to health care professionals trained in genetic medicine. As part of a combined research and community outreach effort, we provided genetic testing for several patients with DS. These individuals and their families live on several resource-limited Caribbean islands and have either limited or virtually no access to medical genetics services. Within this group were three families with recurrent DS. Karyotype established that translocation events were not involved in the DS in any of these families. This information enabled genetic counseling to help family members understand their recurrent DS. A definitive diagnosis of DS is beneficial to families in resource-limited communities and may help to provide such families with genetic counseling, reassurance, and peace of mind.

TÍTULO / TITLE:    - Parent-reported health-related quality of life of children with Down syndrome: a descriptive study.

REVISTA / JOURNAL:    - Dev Med Child Neurol. 2018 Jan 23. doi: 10.1111/dmcn.13670.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/dmcn.13670

AUTORES / AUTHORS: - Shields N et al

INSTITUCIÓN / INSTITUTION: - Telethon Kids Institute, The University of Western Australia, Subiaco, WA, Australia.University of Western Australia, Crawley, WA, Australia.  

RESUMEN / SUMMARY: - AIM: To describe health-related quality of life of Australian children and adolescents with Down syndrome and compare it with norm-referenced data. METHOD: A cross-sectional survey was conducted with parents of 75 children and adolescents (43 males, 32 females) with Down syndrome aged 5 to 18 years (mean age 13y 2mo, SD 4y 8mo). The proxy-report KIDSCREEN-27 questionnaire was administered and five dimensions of health-related quality of life were measured. Data were analysed descriptively and compared with normative data. RESULTS: Total group mean scores for psychological well-being, autonomy and parent relation, and school environment dimensions were within normal threshold values, whereas mean scores for physical well-being, and social support and peers dimensions, were poorer. For participants with Down syndrome aged 8 to 18 years, the difference with normative data for proxy-reported physical well-being, psychological well-being, and social support and peers dimensions favoured typically developing children. Adolescents (13-18y) with Down syndrome scored poorer on all dimensions than children (5-12y) with Down syndrome. INTERPRETATION: Our findings assist a better understanding of the lived experiences of children and adolescents with Down syndrome, as perceived by their parents, and suggest aspects of health that could be influenced to optimize their quality of life. What this paper adds Proxy-reported psychological well-being and autonomy were within the normal range for children with Down syndrome. Physical well-being and social support scores were significantly lower than normative data. Proxy-reported scores for adolescents with Down syndrome were consistently poorer than for children with Down syndrome and the differences were clinically important.

TÍTULO / TITLE:    - Links between sleep and daytime behaviour problems in children with Down syndrome.

REVISTA / JOURNAL:    - J Intellect Disabil Res. 2018 Feb;62(2):115-125. doi: 10.1111/jir.12463. Epub 2017 Dec 28.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/jir.12463

AUTORES / AUTHORS: - Esbensen AJ; et al.

INSTITUCIÓN / INSTITUTION: - Division of Developmental and Behavioral Pediatrics, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, USA.  

RESUMEN / SUMMARY: - BACKGROUND: In the general population, sleep problems have an impact on daytime performance. Despite sleep problems being common among children with Down syndrome, the impact of sleep problems on daytime behaviours in school-age children with Down syndrome is an understudied topic. Our study examined the relationship between parent-reported and actigraphy-measured sleep duration and sleep quality with parent and teacher reports of daytime behaviour problems among school-age children with Down syndrome. METHOD: Thirty school-age children with Down syndrome wore an actigraph watch for a week at home at night. Their parent completed ratings of the child’s sleep during that same week. Their parent and teacher completed a battery of measures to assess daytime behaviour. RESULTS: Parent reports of restless sleep behaviours on the Children’s Sleep Habits Questionnaire, but not actigraph-measured sleep efficiency, was predictive of parent and teacher behavioural concerns on the Nisonger Child Behaviour Rating Form and the Vanderbilt ADHD Rating Scales. Actigraph-measured sleep period and parent-reported sleep duration on the Children’s Sleep Habits Questionnaire was predictive of daytime parent-reported inattention. Actigraph-measured sleep period was predictive of parent-reported hyperactivity/impulsivity. CONCLUSION: The study findings suggest that sleep problems have complex relationships to both parent-reported and teacher-reported daytime behaviour concerns in children with Down syndrome. These findings have implications for understanding the factors impacting behavioural concerns and their treatment in school-age children with Down syndrome.

TÍTULO / TITLE:    - Convergent validity of actigraphy with polysomnography and parent reports when measuring sleep in children with Down syndrome.

REVISTA / JOURNAL:    - J Intellect Disabil Res. 2018 Jan 5. doi: 10.1111/jir.12464.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/jir.12464

AUTORES / AUTHORS: - Esbensen AJ et al.

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - BACKGROUND: There is a need for rigorous measures of sleep in children with Down syndrome as sleep is a substantial problem in this population and there are barriers to obtaining the gold standard polysomnography (PSG). PSG is cost-prohibitive when measuring treatment effects in some clinical trials, and children with Down syndrome may not cooperate with undergoing a PSG. Minimal information is available on the validity of alternative methods of assessing sleep in children with Down syndrome, such as actigraphy and parent ratings. Our study examined the concurrent and convergent validity of different measures of sleep, including PSG, actigraphy and parent reports of sleep among children with Down syndrome. METHOD: A clinic (n = 27) and a community (n = 47) sample of children with Down syndrome were examined. In clinic, children with Down syndrome wore an actigraph watch during a routine PSG. In the community, children with Down syndrome wore an actigraph watch for a week at home at night as part of a larger study on sleep and behaviour. Their parent completed ratings of the child’s sleep during that same week. RESULTS: Actigraph watches demonstrated convergent validity with PSG when measuring a child with Down syndrome’s total amount of sleep time, total wake time after sleep onset and sleep period efficiency. In contrast, actigraph watches demonstrated poor correlations with parent reports of sleep, and with PSG when measuring the total time in bed and total wake episodes. Actigraphy, PSG and parent ratings of sleep demonstrated poor concurrent validity with clinical diagnosis of obstructive sleep apnoea. CONCLUSION: Our current data suggest that actigraph watches demonstrate convergent validity and are sensitive to measuring certain sleep constructs (duration, efficiency) in children with Down syndrome. However, parent reports, such as the Children’s Sleep Habits Questionnaire, may be measuring other sleep constructs. These findings highlight the importance of sel

TÍTULO / TITLE:    - Adaptive behaviour, executive function and employment in adults with Down syndrome.

REVISTA / JOURNAL:    - J Intellect Disabil Res. 2018 Jan;62(1):41-52. doi: 10.1111/jir.12450.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/jir.12450

AUTORES / AUTHORS: - Tomaszewski B, Fidler D et al;

INSTITUCIÓN / INSTITUTION: - Human Development and Family Studies, Colorado State University, Fort Collins, CO, USA.  

RESUMEN / SUMMARY: - BACKGROUND: Individuals with Down syndrome (DS) demonstrate difficulties with aspects of executive function (EF) and adaptive behaviour across the lifespan. There is a current lack of information regarding how these difficulties relate to employment outcomes in adulthood. This study evaluated the adaptive behaviour and EF profiles of individuals with DS during early adulthood and the association between these areas of functioning and employment status. METHODS: Parents or caregivers of primarily young adults with DS (n = 31; mean chronological age = 25.9 years; SD = 5.92) completed the Vineland Adaptive Behavior Scales - Second Edition the Behavior Rating Inventory of Executive Function - Adult version and a demographic questionnaire that requested information regarding adult employment status. RESULTS: Findings indicated a distinct pattern of relative strengths and challenges in adaptive behaviour and EF. In addition, the EF sub-domain of working memory was a significant predictor of employment status. CONCLUSIONS: Specific aspects of the DS cognitive profile may have an important influence on employment status in primarily young adults with DS. Implications for interventions are discussed.

TÍTULO / TITLE:    - Burden of caregivers of children and adolescents with Down Syndrome.

REVISTA / JOURNAL:    - Cien Saude Colet. 2017 Nov;22(11):3625-3634. doi: 10.1590/1413-812320172211.31102016.

Enlace a la Editora de la Revista http://dx.doi.org/10.1590/1413-812320172211.31102016

AUTORES / AUTHORS: - Barros ALO; et al

INSTITUCIÓN / INSTITUTION: - Unidade de Diagnostico Oral e Odontologico para Pacientes Especiais, Universidade Federal de Sergipe. R. Claudio Batista - lado par, Santo Antonio. 49060-102 Aracaju SE Brasil.   alina.barros@terra.com.br

RESUMEN / SUMMARY: - The aim of this study was to evaluate the profile and burden of caregivers of children/adolescents with and without Down syndrome. The evaluations were performed through questionnaires about the profile and burden of the caregivers (Zarit Burden Interview) and the profile of the children/adolescents. These questionnaires were applied to 168 caregivers. The chi-square test, Fisher’s exact test, and analysis of variance were used with a significance level set at a = 5%. Both groups were composed of 84 participants, and the caregivers of the disabled group had a significantly higher percentage of females (p = 0.001), those in the 41-60 age group (p < 0.001), those who had no occupation (p < 0.001), those with a low per capita income (p < 0.001), those with a low level of schooling (p = 0.021), those who were Catholic in religion (p = 0.001), those who had more health problems (p < 0.001), those who continued the use of medication (p < 0.001), and those with a moderate level of burden (p < 0.001). The children/adolescents with disabilities needed significantly more help for eating (p = 0.051), bathing (p = 0.006), dressing (p = 0.042), sphincter control (p = 0.027), and intimate hygiene (p < 0.001). The caregivers of children/adolescents with Down syndrome presented a moderate burden compared to the caregivers of normoreactive children/adolescents.

TÍTULO / TITLE:    - “It’s good, they’re like me; the same but different.” An interpretative phenomenological analysis of the identities of women with Down’s syndrome.

REVISTA / JOURNAL:    - J Appl Res Intellect Disabil. 2017 Nov 29. doi: 10.1111/jar.12425.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/jar.12425

AUTORES / AUTHORS: - Groves E; et al.

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - BACKGROUND: For people with disabilities, identity formation is based on responses to hierarchical values determined by able populations. Some adopt a disability identity, whereas others may seek to conceal their disability. No research has focused on how women with Down’s Syndrome form an identity. DESIGN: Eight women with Down’s Syndrome took part in semi-structured interviews designed to find out more about their individual and shared identities. The transcripts were analysed using interpretive phenomenological analysis. FINDINGS: Negative assumptions of others and oppressive, paternalistic care often lead to a lack of ownership over narratives. “Finding a place in society” is an attempt to challenge this and gain a sense of ownership over their lives. CONCLUSIONS: This research uncovered the individual and shared identities that women with Down’s Syndrome construct. Services need to be aware of the role they have in supporting these women to develop autonomy and ownership over their lives.

TÍTULO / TITLE:    - Reccomendations for the care of adults with Down’s syndrome. Literature review.

REVISTA / JOURNAL:    - Semergen. 2017 Dec 14. pii: S1138-3593(17)30330-1. doi:10.1016/j.semerg.2017.11.005.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.semerg.2017.11.005

AUTORES / AUTHORS: - Gonzalez-Cerrajero M; et al.

INSTITUCIÓN / INSTITUTION: - Centro de Salud Guzman el Bueno, Madrid, España   mgcerrajero@yahoo.es

RESUMEN / SUMMARY: - Over the years, the life expectancy for individuals with Down syndrome (DS) has increased significantly. This fact involves a higher risk for developing numerous medical conditions associated with the aging of adults with DS. A high level of awareness is required by the professional, due to the lack of clinical expressiveness and their higher pain threshold, often makes the diagnosis difficult. Health care professionals must be aware of the specific recommendations for the appropriate care of the adult population with DS. The aim of this article is to describe the most frequent comorbidities in adults with DS adults, to summarise the specific preventive recommendations after comparing the main guidelines published, and to evaluate them according to their specific needs.

TÍTULO / TITLE:    - Memory profiles in Down syndrome across development: a review of memory abilities through the lifespan.

REVISTA / JOURNAL:    - J Neurodev Disord. 2018 Jan 29;10(1):5. doi: 10.1186/s11689-017-9220-y.

Enlace a la Editora de la Revista http://dx.doi.org/10.1186/s11689-017-9220-y

AUTORES / AUTHORS: - Godfrey M, Lee NR

INSTITUCIÓN / INSTITUTION: - Department of Psychology, Drexel University, 3141 Chestnut Street, Stratton 119, Philadelphia, PA, 19104, USA.  

RESUMEN / SUMMARY: - Down syndrome (DS) is associated with a variety of cognitive impairments, notably memory impairments. Due to the high prevalence rates of early-onset dementia associated with DS, it is imperative to understand the comprehensive development of memory impairments beginning in childhood and into adulthood, as this may help researchers identify precursors of dementia at earlier stages of development and pinpoint targets for memory intervention. The current paper provides a systematic, developmentally focused review of the nature of memory difficulties in DS across the lifespan. Specifically, this review summarizes what is known about long-term, short-term, and working memory abilities (distinguishing between verbal and nonverbal modalities) in DS, compared to both mental age-matched typically developing peers and individuals with other forms of intellectual disability (ID) at three developmental stages (i.e., preschool, adolescence, and adulthood). Additionally, this review examines the degree of impairment reported relative to typically developing mental age-matched peers in the existing literature by examining effect size data across memory domains as a function of age. With few exceptions, memory abilities were impaired across the lifespan compared to mental age-matched typically developing peers. Relative to other groups with ID, research findings are mixed. Our review of the literature identified a scarcity of memory studies in early childhood, particularly for STM and WM. In adulthood, research was limited in the LTM and WM domains and very little research has compared memory abilities in older adults with DS to those with typical development. Looking to the future, longitudinal studies could provide a better understanding of the developmental trajectory of memory abilities in DS, and the possible associations between memory abilities and real-world functioning. This research could ultimately inform interventions to improve independence and overall quality of life

TÍTULO / TITLE:    - Intergroup trust and anxiety: The two sides of stigma towards people with Down syndrome [Confianza y ansiedad intergrupal: Los dos lados del estigma hacia las personas con síndrome de Down]

REVISTA / JOURNAL:    - (2018) Anales de Psicologia, 34 (1), pp. 117-122.

AUTORES / AUTHORS: - Delgado, N., Ariño, E., Betancor, V., Rodríguez-Pérez, A.

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - People w ith Down syndrome experience a type of ambivalent stigmatisation, which combines stereotypes, emotional reactions, and both positive and negative attitudes. The aim of this study is to analyse the relationship between ambivalent attitudes towards people with Down syndrome, and the levels of intergroup trust and anxiety felt towards them. A total of 144 university students completed a questionnaire on their social perception of people with Down syndrome, indicating the extent to which they anticipate an interaction with this group based on trust or anxiety. The results show that responses to people with Down syndrome are ambivalent. Moreover, while intergroup trust is associated with high levels of admiration and competence, intergroup anxiety is associated with high levels of aversion, compassion and low admiration. We discuss the implications of these results, taking into account how to enhance the social perception of people with Down syndrome, as well as the complex role of compassion in the assessment of stigmatised groups.

TÍTULO / TITLE:    - A New Protocol to Assess the Subjective Wellbeing of Adolescents with Intellectual Disability

REVISTA / JOURNAL:    - (2017) Journal of Policy and Practice in Intellectual Disabilities, 14 (4), pp. 298-308

AUTORES / AUTHORS: - Blake, G.A.

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - Subjective well-being refers to an individual`s satisfaction or happiness with their life. The construct is often measured with the Personal Wellbeing Index (PWI), which has been adapted for children of different ages, and adults with an intellectual disability (ID). However, there is no subjective well-being measure for adolescents with an ID. This study reports on the PWI-School Children with Intellectual Disability (PWI-SCwID), which trialled a pretesting Likert training protocol to enable valid completion of the questionnaire. From this, it was aimed that the subjective well-being of adolescents with ID would be compared to adults and adolescents without ID, and adults with ID. The PWI-SCwID was administered to 42 adolescents with ID. They had a mean age of 15.86 years (SD = 1.70) and 52% were female. Participants were recruited from special education schools and dance classes for adolescents with Down syndrome. Thirty-seven participants (88%) validly completed the PWI-SCwID. Of the 17 participants with Down syndrome, who are most likely to have moderate to severe intellectual disability, 76% returned valid questionnaires. Comparison of the current sample with other samples of adolescents and adults without ID found no significant differences in subjective well-being. Adults with ID from another study reported lower happiness with their standard of living than the current sample. The higher completion rate reported in this study is likely due to the implementation of training protocols that taught and assessed the participants’ ability to use a Likert-type scale. The high completion rate of participants with Down syndrome suggest that the revised protocols enable the collection of well-being data previously believed to be unattainable. The implication is that evaluating policy and interventions may consider the subjective well-being of a vulnerable group who typically have limited capacity to advocate for themselves.

TÍTULO / TITLE:    - Cosmetic surgery for children and adolescents. D eontological and bioethical remarks

REVISTA / JOURNAL:    - (2017) Clinica Terapeutica, 168 (6), pp. e415-e420.

AUTORES / AUTHORS: - Del Rio, A., Rinaldi, R., Napoletano, S., di Luca, N.M.

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - The only interventions deemed ethically acceptable are those that serve the "objective interest" of the minors involved from the standpoint of and conducive to sound mental health and balance in a patient`s teenage years; by the same token, disproportionate interventions (e.g. overly invasive or pointlessly risky), or all those deemed unsuitable with regards to a poor cost-benefit ratio are viewed as unacceptable. In the process of considering the best interest of the minors involved, a wide array of factors come into play, such as: age, maturity, psychological and emotional conditions, motivations put forth by the underage patient, the opportunity to procrastinate the operation: parents, who are naturally entitled to give consent to the surgical procedures, and physicians are primarily liable to safeguard and act in the minor`s best interest. The authors attempt to lay out how medical science has evolved over the past century, and aim to set forth an array of considerations centered on cosmetic surgery for adolescents.

RESPIRATORY - RESPIRATORIO

TÍTULO / TITLE:    - Down syndrome and pediatric obstructive sleep apnea surgery: A national cohort.

REVISTA / JOURNAL:    - Laryngoscope. 2017 Dec 27. doi: 10.1002/lary.27063.

Enlace a la Editora de la Revista http://dx.doi.org/10.1002/lary.27063

AUTORES / AUTHORS: - Ong AA; Atwood CM; et al.

INSTITUCIÓN / INSTITUTION: - Department of Otolaryngology-Head and Neck Surgery, Medical University of South Carolina, Charleston, South Carolina, U.S.A.  

RESUMEN / SUMMARY: - OBJECTIVES/HYPOTHESIS: To analyze the trend of sleep surgeries in pediatric patients with Down syndrome (DS) and obstructive sleep apnea (OSA), and to compare this to nonsyndromic (NS) children with OSA. STUDY DESIGN: Retrospective cohort database analysis. METHODS: Analysis of the 1997 to 2012 editions of the Kid’s Inpatient Database was conducted. Using International Classification of Diseases, Ninth Revision codes, all patients with OSA were identified, and subsequently, subgroups of NS children and children with DS were identified. Trends of the number and types of sleep surgeries were analyzed. RESULTS: A total of 48,301 and 2,991 sleep surgeries were identified in the NS and DS groups, respectively, during the study period. Tonsillectomy with adenoidectomy was the most common procedure in both groups, but the proportion of tonsillectomy with adenoidectomy decreased over time (P < .01). The proportion of palatal surgery and tracheostomy also decreased significantly, whereas there was an increase in the proportion of lingual tonsillectomies, tongue-base reduction procedures, and supraglottoplasties performed in both groups over time. The relative rates of change in these procedures were higher in the DS population. CONCLUSIONS: Tonsillectomy with adenoidectomy remains the most commonly performed procedure, although there was a significant increase in other sleep surgeries performed (lingual tonsillectomy, tongue-base reduction, and supraglottoplasty) between the two study periods, especially in children with DS. LEVEL OF EVIDENCE: 2c. Laryngoscope, 00:000-000, 2017.

TÍTULO / TITLE:    - Is sweat testing for cystic fibrosis feasible in patients with Down syndrome?

REVISTA / JOURNAL:    - BMC Pulm Med. 2018 Jan 16;18(1):8. doi: 10.1186/s12890-018-0580-1.

Enlace a la Editora de la Revista http://dx.doi.org/10.1186/s12890-018-0580-1

AUTORES / AUTHORS: - Ruf K; et al.

INSTITUCIÓN / INSTITUTION: - University Children’s Hospital, Wurzburg, Germany.Children’s Hospital of the University of Wurzburg, Josef-Schneider Str. 2, 97080, Wurzburg, Germany..   ruf_k@ukw.de

RESUMEN / SUMMARY: - Recurrent airway infections are common in patients with Down’s syndrome (DS). Hence, ruling out Cystic Fibrosis (CF) in these patients is often required. In the past, the value of sweat testing - the gold standard to diagnose CF - has been questioned in DS as false positive results have been reported. However, these reports are based on measurements of sweat osmolality or sodium concentrations, not chloride concentrations. This study analyses sweat secretion rate and chloride concentration in sweat samples of patients with DS in comparison to healthy controls. METHODS: We assessed sweat samples in 16 patients with DS and 16 healthy controls regarding sweat secretion rate (SSR) and sweat chloride concentration. RESULTS: All measured chloride concentrations were within the normal range. The chloride concentrations were slightly, but not significantly lower in patients with DS (15,54 mmol/l (+/-4,47)) compared to healthy controls (18,31 mmol/l (+/-10,12)). While no gender gap in chloride concentration could be found, chloride concentration increased with age in both groups. Insufficient sweat was collected in 2 females with DS (12.5% of the study group) but not in an individual of the control group. A significant lower sweat secretion rate was found in the DS group (27,6 mul/30 min (+/- 12,18)) compared to the control group (42,7 mul/30 min (+/- 21,22)). In a sub-analysis, female patients produced significantly less sweat (20,8 +/- 10,6 mul/30 min) than male patients with DS (36,4 +/- 7,8 mul/30 min), which accounts for the difference between patients and controls. Furthermore, while the sweating secretion rate increased with age in the control group, it did not do so in the DS group. Once again this was due to female patients with DS, who did not show a significant increase of sweat secretion rate with age. CONCLUSIONS: Sweat chloride concentrations were within the normal range in patients with DS and therefore seem to be a reliable tool for testing for CF in these pa

TÍTULO / TITLE:    - The burden of respiratory syncytial virus (RSV) associated acute lower respiratory infections in children with Down syndrome: A systematic review and meta-analysis.

REVISTA / JOURNAL:    - J Glob Health. 2017 Dec;7(2):020413. doi: 10.7189/jogh.07.020413.

Enlace a la Editora de la Revista http://dx.doi.org/10.7189/jogh.07.020413

AUTORES / AUTHORS: - Chan M;

INSTITUCIÓN / INSTITUTION: - Usher Institute of Population Health Sciences and Informatics, University of Edinburgh, UK.;  

RESUMEN / SUMMARY: - Background: Acute lower respiratory tract infections (ALRIs) caused by respiratory syncytial virus (RSV) are a leading cause of hospitalization in infants. Numerous risk factors have been identified in the aetiology of severe RSV-associated ALRI necessitating hospitalisation, including prematurity and congenital heart disease. Down syndrome (DS), a common genetic disorder associated with congenital and dysmorphic features, has recently been identified as an independent risk factor for RSV-associated ALRI requiring hospitalisation; however, the disease burden of RSV-associated ALRI in this population has not yet been established. Similarly, the impact of DS as an independent risk factor has not yet been quantified. We aimed therefore to estimate the incidence of admissions in children with DS, and by comparing this with unaffected children, to quantify the risk of DS independent of other risk factors. Methods: A systematic review of the existing literature published between 1995 and March 1, 2017 was performed to quantify the incidence of hospitalisation due to RSV-associated ALRI in children with DS. Meta-analyses were performed on extracted data using STATA statistical software, and hospitalisation rates for children with and without DS under the age of 2 were calculated. Findings: 5 articles were ultimately deemed eligible for analyses. Analyses were limited to children under the age of 2 years. We calculated the hospitalisation rate for children with DS in this age group to be 117.6 per 1000 child-years (95% CI 67.4-205.2), vs a rate of 15.2 per 1000 child-years (95% CI 8.3-27.6) in unaffected children. This indicates DS contributes to a 6.8 (95% CI 5.5-8.4) fold increase in the relative risk of hospitalisation for RSV-associated ALRI. Interpretation: Though limited by a small number of articles, this review found sufficient evidence to conclude DS was a significant independent risk factor for the development of severe RSV-associated ALRI requiring hospitalisatio

SURGERY - CIRUGÍA

TÍTULO / TITLE:    - Cosmetic surgery for children and adolescents. Deontological and bioethical remarks

REVISTA / JOURNAL:    - (2017) Clinica Terapeutica, 168 (6), pp. e415-e420.

AUTORES / AUTHORS: - Del Rio, A., Rinaldi, R., Napoletano, S., di Luca, N.M.

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - The only interventions deemed ethically acceptable are those that serve the "objective interest" of the minors involved from the standpoint of and conducive to sound mental health and balance in a patient`s teenage years; by the same token, disproportionate interventions (e.g. overly invasive or pointlessly risky), or all those deemed unsuitable with regards to a poor cost-benefit ratio are viewed as unacceptable. In the process of considering the best interest of the minors involved, a wide array of factors come into play, such as: age, maturity, psychological and emotional conditions, motivations put forth by the underage patient, the opportunity to procrastinate the operation: parents, who are naturally entitled to give consent to the surgical procedures, and physicians are primarily liable to safeguard and act in the minor`s best interest. The authors attempt to lay out how medical science has evolved over the past century, and aim to set forth an array of considerations centered on cosmetic surgery for adolescents.

THERAPEUTICS - TERAPÉUTICA

TÍTULO / TITLE:    - Brentuximab-vedotin maintenance following chemotherapy without irradiation for primary intracranial embryonal carcinoma in Down syndrome.

REVISTA / JOURNAL:    - Childs Nerv Syst. 2017 Dec 13. pii: 10.1007/s00381-017-3690-9. doi: 10.1007/s00381-017-3690-9.

Enlace a la Editora de la Revista http://dx.doi.org/10.1007/s00381-017-3690-9

AUTORES / AUTHORS: - Abu Arja MH; et al.

INSTITUCIÓN / INSTITUTION: - The Division of Hematology/Oncology/Blood and Marrow Transplant, Nationwide Children’s Hospital, 700 Children’s Drive, Columbus, OH, 43205, USA.   Mohammad.AbuArja@nationwidechildrens.org

RESUMEN / SUMMARY: - BACKGROUND: Germ cell tumors (GCT) are the most common central nervous system (CNS) tumors in individuals with Down syndrome. Patients with Down syndrome treated with CNS irradiation are at increased risk of developing cerebrovascular complications such as moyamoya disease. Embryonal carcinoma components are recognized to be more resistant to conventional chemotherapy and radiotherapy and confer a very poor prognosis. CD30 is a member of the tumor necrosis factor-receptor superfamily. CD30+ has a limited expression in normal cells but is the defining marker for embryonal carcinoma. Brentuximab-vedotin is a novel antibody-drug conjugate consisting of the chimeric anti-CD30 antibody conjugated to an anti-tubulin synthetic analog monomethyl auristatin E. METHODS: A retrospective review of the patient’s records was conducted in September 2017. RESULTS: We report upon our management of a teenage girl with Down syndrome and a suprasellar pure embryonal carcinoma utilizing an intensive chemotherapy regimen followed by brentuximab-vedotin without irradiation. The patient received two cycles of carboplatin and etoposide interspersed with one cycle of cyclophosphamide and etoposide for induction followed by three cycles of marrow-ablative thiotepa and carboplatin rescued by autologous hematopoietic stem cell. Finally, She received six cycles of intravenous brentuximab-vedotin. The patient continues without evidence of recurrent tumor by MRI and tumor marker surveillance 24 months since diagnosis, with no adverse sequelae of her treatment. CONCLUSIONS: Brentuximab-vedotin may provide a selective and safe alternative (or adjunct) to radiotherapy in the management of patients with CD30-positive CNS embryonal carcinoma, especially for those patients at high risk of developing irradiation-related complications.

TÍTULO / TITLE:    - Lithium restores age-related olfactory impairment in the Ts65Dn mouse model of Down syndrome

REVISTA / JOURNAL:    - (2017) CNS and Neurological Disorders - Drug Targets, 16 (7), pp. 812-819.

AUTORES / AUTHORS: - Guidi, S., Bianchi, P., Stagni, F., Giacomini, A., Emili, M., Trazzi, S., Ciani, E., Bartesaghi, R.

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - Background & Objective: Down syndrome, a genetic condition caused by triplication of chromosome 21, is characterized by widespread neurogenesis reduction and cognitive impairment. Unlike other brain functions, smell is not impaired at early life stages and olfactory deterioration begins to appear in adulthood. Similarly to individuals with Down syndrome, in the Ts65Dn mouse model of Down syndrome smell function is normal at early life stages. Smell impairment only appears in adulthood associated with a reduction in the number of new granule neurons migrated to the olfactory bulb from the subventricular zone. Based on evidence that lithium positively impacts neurogenesis, the goal of current study was to establish whether treatment with lithium restores olfactory bulb neurogenesis and olfactory performance in middle-aged Ts65Dn mice. Method: Euploid and Ts65Dn mice aged 13 months were treated with lithium chow or control chow for one month. Before the end of treatment, mice were injected with BrdU, in order to label proliferating cells. Results showed that in Ts65Dn mice lithium treatment restored the number of neural precursor cells in the subventricular zone of the lateral ventricle, rostral migratory stream and olfactory bulb. This effect was accompanied by restoration of olfactory performance. Unlike in olfactory neurogenic regions, treatment had no neurogenesis-enhancing effect on the subgranular zone of the hippocampal dentate gyrus, indicating that lithium has no generalized positive effect on the brain. Conclusion: Results suggest that lithium may have a positive impact in brain disorders that, similarly to Down syndrome, are characterized by olfactory decline and neurogenesis impairment in the subventricular zone.

TÍTULO / TITLE:    - Can EGCG Alleviate Symptoms of Down Syndrome by Altering Proteolytic Activity?

REVISTA / JOURNAL:    - Int J Mol Sci. 2018 Jan 15;19(1). pii: ijms19010248. doi: 10.3390/ijms19010248.

Enlace a la Editora de la Revista http://dx.doi.org/10.3390/ijms19010248

AUTORES / AUTHORS: - Wyganowska-Swiatkowska M;

INSTITUCIÓN / INSTITUTION: - Department of Dental Surgery and Periodontology, Poznan University of Medical Sciences, Bukowska 70, 60-812 Poznan, Poland.   marzena.wyganowska@periona.pl

RESUMEN / SUMMARY: - Down syndrome (DS), also known as “trisomy 21”, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. Silencing these extra genes is beyond existing technology and seems to be impractical. A number of pharmacologic options have been proposed to change the quality of life and lifespan of individuals with DS. It was reported that treatment with epigallocatechin gallate (EGCG) improves cognitive performance in animal models and in humans, suggesting that EGCG may alleviate symptoms of DS. Traditionally, EGCG has been associated with the ability to reduce dual specificity tyrosine phosphorylation regulated kinase 1A activity, which is overexpressed in trisomy 21. Based on the data available in the literature, we propose an additional way in which EGCG might affect trisomy 21-namely by modifying the proteolytic activity of the enzymes involved. It is known that, in Down syndrome, the nerve growth factor (NGF) metabolic pathway is altered: first by downregulating tissue plasminogen activator (tPA) that activates plasminogen to plasmin, an enzyme converting proNGF to mature NGF; secondly, overexpression of metalloproteinase 9 (MMP-9) further degrades NGF, lowering the amount of mature NGF. EGCG inhibits MMP-9, thus protecting NGF. Urokinase (uPA) and tPA are activators of plasminogen, and uPA is inhibited by EGCG, but regardless of their structural similarity tPA is not inhibited. In this review, we describe mechanisms of proteolytic enzymes (MMP-9 and plasminogen activation system), their role in Down syndrome, their inhibition by EGCG, possible degradation of this polyphenol and the ability of EGCG and its degradation products to cross the blood-brain barrier. We conclude that known data accumulated so far provide promising evidence of MMP-9 inhibition by EGCG in the brain, which could slow down the abnormal degradation of NGF.

TÍTULO / TITLE:    - Early pregnancy following multidrug regimen chemotherapy in a gestational trophoblastic neoplasia patient: A case report

REVISTA / JOURNAL:    - (2017) Medicine (United States), 96 (51), art. no. e9221,

AUTORES / AUTHORS: - Niu, G., Yuan, L.-J., Gong, F.-Q., Yang, J., Zhu, C.-X., Shen, H.-W.

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - Rationale : Gestational trophoblastic neoplasia is a group of rare tumors that can be cured using chemotherapy. The use of artificial contraception for at least 1 year is recommended not only due to the high recurrence rate in the first year after treatment, but also because of the unclear genetic toxic effects of multidrug regimen chemotherapy on reproductive cells. There is no consensus about the contraception duration, but most patients want to have children. Patient concerns: This case involved a 33-year-old female suffering from gestational trophoblastic neoplasia and 5-fluorouracil + actinomycin-D chemotherapy. She became pregnant 1 month after finishing the chemotherapy. Diagnosis: Gestational trophoblastic neoplasia. Interventions: No treatment during pregnancy. Outcomes: The patient had a full-term normal delivery, and the baby showed normal development and growth after a follow-up of 48 months. Lessons: Pregnancy soon after chemotherapy can be viable with rigorous prenatal care.

EDUCATION - EDUCACIÓN

TÍTULO / TITLE:    - The Effects of a Peer-Delivered Social Skills Intervention for Adults with Comorbid Down Syndrome and Autism Spectrum Disorder.

REVISTA / JOURNAL:    - J Autism Dev Disord. 2017 Dec 22. pii: 10.1007/s10803-017-3437-1. doi: 10.1007/s10803-017-3437-1.

Enlace a la Editora de la Revista http://dx.doi.org/10.1007/s10803-017-3437-1

AUTORES / AUTHORS: - Davis MAC; et al.

INSTITUCIÓN / INSTITUTION: - Department of Educational, School, and Counseling Psychology, University of Kentucky, Lexington, KY, 40506-0017, USA.   cdavis@stewarthome.com.

RESUMEN / SUMMARY: - Deficits in social skills are often exhibited in individuals with comorbid Down syndrome (DS) and autism spectrum disorder (ASD), and there is a paucity of research to help guide intervention for this population. In the present study, a multiple probe study across behaviors, replicated across participants, assessed the effectiveness of peer-delivered simultaneous prompting in teaching socials skills to adults with DS-ASD using visual analysis techniques and Tau-U statistics to measure effect. Peer-mediators with DS and intellectual disability (ID) delivered simultaneous prompting sessions reliably (i.e., > 80% reliability) to teach social skills to adults with ID and a dual-diagnoses of DS-ASD with small (Tau Weighted = .55, 90% CI [.29, .82]) to medium effects (Tau Weighted = .75, 90% CI [.44, 1]). Statistical and visual analysis findings suggest a promising social skills intervention for individuals with DS-ASD as well as reliable delivery of simultaneous prompting procedures by individuals with DS.

TÍTULO / TITLE:    - The Home Literacy Environment of Preschool-Age Children with Autism or Down Syndrome.

REVISTA / JOURNAL:    - Folia Phoniatr Logop. 2017;69(1-2):43-53. doi: 10.1159/000475840. Epub 2017 Dec 15.

Enlace a la Editora de la Revista http://dx.doi.org/10.1159/000475840

AUTORES / AUTHORS: - Westerveld M; van Bysterveldt AK

INSTITUCIÓN / INSTITUTION: - Cooperative Research Centre for Living with Autism (Autism CRC), Brisbane, Queensland, Australia.  

RESUMEN / SUMMARY: - AIMS: This exploratory study investigated if there were differences in the home literacy environment of preschool children on the autism spectrum and preschool children with Down syndrome to determine if the home literacy environment may potentially be associated with strengths or weaknesses in children’s social communication skills. METHODS: A total of 111 parents of preschoolers with identified disabilities completed a home literacy questionnaire. RESULTS: Results indicated that both groups of parents started reading to their children at an early age and owned at least 25 children’s books. However, parents of children with Down syndrome read to their child more often, reported higher child interest in reading, and more frequently played rhyming games with their child. No group differences were found in teaching of letter names, although parents of children with autism reported a higher frequency of pointing out signs/words in the environment and reported their children knew more letter names. Group differences were also found in the relationship between parent behaviours, child interest, and children’s print-related skills. CONCLUSION: This study highlights the influence both parent behaviours and child interest may have on shared book reading practices of parents with their preschool children with disabilities.

TÍTULO / TITLE:    - Longitudinal predictors of early language in infants with Down syndrome: A preliminary study.

REVISTA / JOURNAL:    - Res Dev Disabil. 2018 Jan 9. pii: S0891-4222(17)30334-7. doi: 10.1016/j.ridd.2017.12.021.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.ridd.2017.12.021

AUTORES / AUTHORS: - Mason-Apps E; Stojanovik V;

INSTITUCIÓN / INSTITUTION: - School of Psychology and Clinical Language Sciences, University of Reading, Reading, G6 6AL, United Kingdom.   v.stojanovik@reading.ac.uk

RESUMEN / SUMMARY: - PURPOSE: Children with Down syndrome (DS) typically have marked delays in language development relative to their general cognitive development, with particular difficulties in expressive compared to receptive language. Although early social communication skills, including gestures and joint attention, have been shown to be related to later language outcomes in DS, knowledge is limited as to whether these factors exclusively predict outcomes, or whether other factors (e.g. perceptual and non-verbal skills) are involved. This study addressed this question. METHOD: Longitudinal data for a group of infants with DS (n=14) and a group of typically-developing (TD) infants (n=35) were collected on measures that have been shown to predict language in TD infants and/or those with developmental delays. These included: non-verbal mental ability, speech segmentation skills, and early social communication skills (initiating and responding to joint attention, initiating behavioural requests). RESULTS: Linear regression analyses showed that speech segmentation and initiating joint attention were the strongest predictors of later language in the TD group, whereas non-verbal mental ability and responding to joint attention were the strongest predictors of later language for infants with DS. CONCLUSIONS: Speech segmentation ability may not determine language outcomes in DS, and language acquisition may be more constrained by social communication and general cognitive skills.

TÍTULO / TITLE:    - Single-Word Speech Intelligibility in Children and Adults With Down Syndrome.

REVISTA / JOURNAL:    - Am J Speech Lang Pathol. 2017 Dec 6:1-15. doi: 10.1044/2017_AJSLP-17-0002.

Enlace a la Editora de la Revista http://dx.doi.org/10.1044/2017_AJSLP-17-0002

AUTORES / AUTHORS: - Wild A; et al.

INSTITUCIÓN / INSTITUTION: - 433 Waisman Center, University of Wisconsin-Madison.  

RESUMEN / SUMMARY: - Purpose: A single-word identification test was used to study speech production in children and adults with Down syndrome (DS) to determine the developmental pattern of speech intelligibility with an emphasis on vowels. Method: Speech recordings were collected from 62 participants with DS aged 4-40 years and 25 typically developing participants aged 4-7 years. Panels of 5 adult lay listeners transcribed the speech recordings orthographically, and their responses were scored in comparison with the speakers’ target words. Results: Speech intelligibility in persons with DS improved with age, especially between the ages of 4 and 16 years. Whereas consonants contribute to intelligibility, vowels also played an important role in reduced intelligibility with an apparent developmental difference in low versus high vowels, where the vowels /ae/ and/a/ developed at a later age than /i/ and /u/. Interspeaker variability was large, with male individuals being generally less intelligible than female individuals and some adult men having very low intelligibility. Conclusion: Results show age-related patterns in speech intelligibility in persons with DS and identify the contribution of dimensions of vowel production to intelligibility. The methods used clarify the phonetic basis of reduced intelligibility, with implications for assessment and treatment.

TÍTULO / TITLE:    - Learning by observation and learning by doing in Down and Williams syndromes.

REVISTA / JOURNAL:    - (2017) Developmental Science, . Article in Press.

AUTORES / AUTHORS: - Foti, F., Menghini, D., Alfieri, P., Costanzo, F., Mandolesi, L., Petrosini, L., Vicari, S

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - New skills may be learned by active experience (experiential learning or learning by doing) or by observation of others` experience (learning by observation). In general, learning by observation reduces the time and the attempts needed to learn complex actions and behaviors. The present research aimed to compare learning by observation and learning by doing in two clinical populations with different etiology of intellectual disability (ID), as individuals with Down syndrome (DS) and individuals with Williams syndrome (WS), with the hypothesis that specific profiles of learning may be found in each syndrome. To this end, we used a mixture of new and existing data to compare the performances of 24 individuals with DS, 24 individuals with WS and 24 typically developing children on computerized tasks of learning by observation or learning by doing. The main result was that the two groups with ID exhibited distinct patterns of learning by observation. Thus, individuals with DS were impaired in reproducing the previously observed visuo-motor sequence, while they were as efficient as TD children in the experiential learning task. On the other hand, individuals with WS benefited from the observational training while they were severely impaired in detecting the visuo-motor sequence in the experiential learning task (when presented first). The present findings reinforce the syndrome-specific hypothesis and the view of ID as a variety of conditions in which some cognitive functions are more disrupted than others because of the differences in genetic profile and brain morphology and functionality. These findings have important implications for clinicians, who should take into account the genetic etiology of ID in developing learning programs for treatment and education.

TÍTULO / TITLE:    - Memory profiles in Down syndrome across development: a review of memory abilities through the lifespan.

REVISTA / JOURNAL:    - J Neurodev Disord. 2018 Jan 29;10(1):5. doi: 10.1186/s11689-017-9220-y.

Enlace a la Editora de la Revista http://dx.doi.org/10.1186/s11689-017-9220-y

AUTORES / AUTHORS: - Godfrey M, Lee NR

INSTITUCIÓN / INSTITUTION: - Department of Psychology, Drexel University, 3141 Chestnut Street, Stratton 119, Philadelphia, PA, 19104, USA.  

RESUMEN / SUMMARY: - Down syndrome (DS) is associated with a variety of cognitive impairments, notably memory impairments. Due to the high prevalence rates of early-onset dementia associated with DS, it is imperative to understand the comprehensive development of memory impairments beginning in childhood and into adulthood, as this may help researchers identify precursors of dementia at earlier stages of development and pinpoint targets for memory intervention. The current paper provides a systematic, developmentally focused review of the nature of memory difficulties in DS across the lifespan. Specifically, this review summarizes what is known about long-term, short-term, and working memory abilities (distinguishing between verbal and nonverbal modalities) in DS, compared to both mental age-matched typically developing peers and individuals with other forms of intellectual disability (ID) at three developmental stages (i.e., preschool, adolescence, and adulthood). Additionally, this review examines the degree of impairment reported relative to typically developing mental age-matched peers in the existing literature by examining effect size data across memory domains as a function of age. With few exceptions, memory abilities were impaired across the lifespan compared to mental age-matched typically developing peers. Relative to other groups with ID, research findings are mixed. Our review of the literature identified a scarcity of memory studies in early childhood, particularly for STM and WM. In adulthood, research was limited in the LTM and WM domains and very little research has compared memory abilities in older adults with DS to those with typical development. Looking to the future, longitudinal studies could provide a better understanding of the developmental trajectory of memory abilities in DS, and the possible associations between memory abilities and real-world functioning. This research could ultimately inform interventions to improve independence and overall quality of life

TÍTULO / TITLE:    - Moving beyond limitations: Evaluating the quality of android apps in spanish for people with disability

REVISTA / JOURNAL:    - (2018) Advances in Intelligent Systems and Computing, 721, pp. 640-649. 

AUTORES / AUTHORS: - Larco, A., Yanez, C., Montenegro, C., Luján-Mora, S.

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - Autism, Down syndrome and cerebral palsy, constitute the most common disabilities from a medical point of view. In others individual fields, the Assistive Technology use constitute a current option to improve the Quality of Life. In this case, the free available specialized software covers several competences of life, like language and communication, autonomy, sensorimotor, social skills, mathematics, knowledge of the natural and social environment, and digital competences. The objective of this research was to evaluate the quality of Android apps using Mobile Application Rating Scale. A systematic search using Preferred Reporting Items for Systematic Reviews and Meta-Analyses was conducted using Google Play store as a base in August 2017. Evaluated apps were classified according to their respective competence of life. The results showed that the evaluated apps needed improvements in customization and interactivity. Also, an apps list based on Mobile Application Rating Scale scores, useful for therapist, parents, and people with disability has been established. © Springer International Publishing AG 2018.
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