CITAS BIBLIOGRÁFICAS
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Noviembre 2016 - Diciembre 2016
November 2016 - December 2016


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AGING - ENVEJECIMIENTO

TÍTULO / TITLE:    - Alzheimer’s disease in people with Down’s syndrome: the prospects for and the challenges of developing preventative treatments.

REVISTA / JOURNAL:    - J Neurol. 2016 Oct 24.

Enlace a la Editora de la Revista http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=27778163&dopt=Abstract

AUTORES / AUTHORS: - Castro P; Zaman S; Holland A

INSTITUCIÓN / INSTITUTION: - Cambridge Intellectual and Developmental Disabilities Research Group, Department of Psychiatry, University of Cambridge, 18b Trumpington Road, Cambridge, CB2 8AH, UK.  

RESUMEN / SUMMARY: - People with Down’s syndrome (DS) are at high risk for developing Alzheimer’s disease (AD) at a relatively young age. This increased risk is not observed in people with intellectual disabilities for reasons other than DS and for this reason it is unlikely to be due to non-specific effects of having a neurodevelopmental disorder but, instead, a direct consequence of the genetics of DS (trisomy 21). Given the location of the amyloid precursor protein (APP) gene on chromosome 21, the amyloid cascade hypothesis is the dominant theory accounting for this risk, with other genetic and environmental factors modifying the age of onset and the course of the disease. Several potential therapies targeting the amyloid pathway and aiming to modify the course of AD are currently being investigated, which may also be useful for treating AD in DS. However, given that the neuropathology associated with AD starts many years before dementia manifests, any preventative treatment must start well before the onset of symptoms. To enable trials of such interventions, plasma, CSF, brain, and retinal biomarkers are being studied as proxy early diagnostic and outcome measures for AD. In this systematic review, we consider the prospects for the development of potential preventative treatments of AD in the DS population and their evaluation.

TÍTULO / TITLE:    - HNE-modified proteins in Down syndrome: Involvement in development of Alzheimer disease neuropathology.

REVISTA / JOURNAL:    - Free Radic Biol Med. 2016 Nov 10. pii: S0891-5849(16)30997-2. doi: 10.1016/j.freeradbiomed.2016.10.5

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.freeradbiomed.2016.10.508

AUTORES / AUTHORS: - Barone E; Head E; Butterfield DA; Perluigi M;

INSTITUCIÓN / INSTITUTION: - Department of Biochemical Sciences, Sapienza University of Rome, Italy.   marzia.perluigi@uniroma1.it

RESUMEN / SUMMARY: - Down syndrome (DS), trisomy of chromosome 21, is the most common genetic form of intellectual disability. The neuropathology of DS involves multiple molecular mechanisms, similar to AD, including the deposition of beta-amyloid (Abeta) into senile plaques and tau hyperphosphorylationg in neurofibrillary tangles. Interestingly, many genes encoded by chromosome 21, in addition to being primarily linked to amyloid-beta peptide (Abeta) pathology, are responsible for increased oxidative stress (OS) conditions that also result as a consequence of reduced antioxidant system efficiency. However, redox homeostasis is disturbed by overproduction of Abeta, which accumulates into plaques across the lifespan in DS as well as in AD, thus generating a vicious cycle that amplifies OS-induced intracellular changes. The present review describes the current literature that demonstrates the accumulation of oxidative damage in DS with a focus on the lipid peroxidation by-product, 4-hydroxy-2-nonenal (HNE). HNE reacts with proteins and can irreversibly impair their functions. We suggest that among different post-translational modifications, HNE-adducts on proteins accumulate in DS brain and play a crucial role in causing the impairment of glucose metabolism, neuronal trafficking, protein quality control and antioxidant response. We hypothesize that dysfunction of these specific pathways contribute to accelerated neurodegeneration associated with AD neuropathology.

TÍTULO / TITLE:    - Cognitive ability in Down syndrome and its relationship to urinary neopterin, a marker of activated cellular immunity.

REVISTA / JOURNAL:    - Neurosci Lett. 2017 Jan 1;636:254-257. doi: 10.1016/j.neulet.2016.11.023. Epub 2016 Nov 13.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.neulet.2016.11.023

AUTORES / AUTHORS: - Zis P; Strydom A; Buckley D; Adekitan D; McHugh PC

INSTITUCIÓN / INSTITUTION: - University College London, Division of Psychiatry, London, United Kingdom; Sheffield Teaching Hospitals NHS Trust, Department of Neurology, Sheffield, United Kingdom.   takiszis@gmail.com

RESUMEN / SUMMARY: - BACKGROUND: Neopterin is an unconjugated pteridine that is secreted in large quantities by activated macrophages and can be used as a clinical marker of activated cellular immunity and oxidative stress. We aimed to investigate whether urinary neopterin levels are associated with cognitive function in people with Down syndrome (DS). METHODS: Out of 32 adults with DS who originally participated in a longitudinal study, 25 were followed up at 4 years. Informants rated their adaptive behavior (ABAS) and the adults with DS attempted assessments of language skills and memory at both baseline and follow-up time points (Modified Memory Object Task, MOMT), and receptive vocabulary (British Picture Vocabulary Scale, BPVS). RESULTS: Neopterin/creatinine levels were negatively correlated with change in the MOMT total score (Spearman’s Rho=-0.517, p=0.020) and change in the MOMT delayed recall score (Spearman’s Rho=-0.577, p=0.008) over time, i.e. higher neopterin/creatinine level was associated with worse performance on a test of cognitive ability over time. CONCLUSION: Urine neopterin may have potential as a biomarker for memory decline in Down syndrome, and could potentially also help to track progression of mild cognitive impairment (MCI) to Alzheimer’s disease in other high risk populations.

TÍTULO / TITLE:    - Personality and behavioural changes do not precede memory problems as possible signs of dementia in ageing people with Down syndrome.

REVISTA / JOURNAL:    - Int J Geriatr Psychiatry. 2016 Oct 4. doi: 10.1002/gps.4606.

Enlace a la Editora de la Revista http://dx.doi.org/10.1002/gps.4606

AUTORES / AUTHORS: - Blok JB; Scheirs JG; Thijm NS;

INSTITUCIÓN / INSTITUTION: - ilburg University, Tilburg, The Netherlands.   j.g.m.scheirs@uvt.nl

RESUMEN / SUMMARY: - OBJECTIVE: The objective was to find out whether changes in personality and adaptive functioning or memory processes decline first in ageing people with Down syndrome. METHODS: We measured these variables cross-sectionally in a Dutch sample (22 to 62 years of age) of 68 institutionalised people with Down syndrome. RESULTS: The scores on all the variables except one of the temperament scales were found to decline gradually with increasing age, but deterioration of episodic memory started earlier. CONCLUSIONS: We argued that a subset of our sample suffered from dementia. Furthermore, the data suggested that immediate memory impairment is one of the earliest signs of the disease in people with Down syndrome, just as it is in the general population. Copyright © 2016 John Wiley & Sons,

TÍTULO / TITLE:    - Down syndrome in adults: a 27-year follow-up of adaptive skills.

REVISTA / JOURNAL:    - Clin Genet. 2016 Nov;90(5):456-460. doi: 10.1111/cge.12787. Epub 2016 May 2.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/cge.12787

AUTORES / AUTHORS: - Arvio M;

INSTITUCIÓN / INSTITUTION: - Paijat-Hame Joint Municipal Authority, Lahti, Finland. Luostarinen   maria.arvio@phsotey.fi

RESUMEN / SUMMARY: - In 1988, we assessed the adaptive skills of 45 adults with Down syndrome (DS) (21 women and 24 men, age 20-58) with the Portage scale. Since then, we have followed them and also screened for signs of clinical dementia with the Present Psychiatric State - Learning Disabilities assessment. The mean adaptive age (AA) of the study group decreased with increasing age; the age of 35 being the turning point in the clinical course of DS. The mean AA was 4.4 years between ages 20 and 34, 3.4 years between ages 35 and 49, and 2.4 years between ages 50 and 66. Inter-individual variation was, however, large. Between ages 20 and 25, the AA of the study subjects ranged from 2.3 to 6 years; and after the age of 50, from 0.3 to 4.8 years. By the end of the study, all subjects showed signs of clinical dementia. These appeared most frequently as reduced self-care skills, loss of energy, forgetfulness, and impaired understanding. We found no connection between apolipoprotein E genotype and the clinical course of DS. We recommend follow-up of adaptive skills and screening for dementia signs in adults with DS.

TÍTULO / TITLE:    - Chronic Melatonin Administration Reduced Oxidative Damage and Cellular Senescence in the Hippocampus of a Mouse Model of Down Syndrome.

REVISTA / JOURNAL:    - Neurochem Res. 2016 Nov;41(11):2904-2913. Epub 2016 Jul 23.

Enlace a la Editora de la Revista http://dx.doi.org/10.1007/s11064-016-2008-8

AUTORES / AUTHORS: - Parisotto EB; Vidal V; Garcia-Cerro S; Lantigua S; Wilhelm Filho D; Sanchez-Barcelo EJ; Martinez-Cue C; Rueda N;

INSTITUCIÓN / INSTITUTION: - Laboratory of Neurobiology of Learning, Department of Physiology and Pharmacology, Faculty of Medicine, School of Medicine, University of Cantabria, c/Cardenal Herrera Oria, s/n, 39011, Santander, España.   ruedan@unican.es

RESUMEN / SUMMARY: - Previous studies have demonstrated that melatonin administration improves spatial learning and memory and hippocampal long-term potentiation in the adult Ts65Dn (TS) mouse, a model of Down syndrome (DS). This functional benefit of melatonin was accompanied by protection from cholinergic neurodegeneration and the attenuation of several hippocampal neuromorphological alterations in TS mice. Because oxidative stress contributes to the progression of cognitive deficits and neurodegeneration in DS, this study evaluates the antioxidant effects of melatonin in the brains of TS mice. Melatonin was administered to TS and control mice from 6 to 12 months of age and its effects on the oxidative state and levels of cellular senescence were evaluated. Melatonin treatment induced antioxidant and antiaging effects in the hippocampus of adult TS mice. Although melatonin administration did not regulate the activities of the main antioxidant enzymes (superoxide dismutase, catalase, glutathione peroxidase, glutathione reductase, and glutathione S-transferase) in the cortex or hippocampus, melatonin decreased protein and lipid oxidative damage by reducing the thiobarbituric acid reactive substances (TBARS) and protein carbonyls (PC) levels in the TS hippocampus due to its ability to act as a free radical scavenger. Consistent with this reduction in oxidative stress, melatonin also decreased hippocampal senescence in TS animals by normalizing the density of senescence-associated beta-galactosidase positive cells in the hippocampus. These results showed that this treatment attenuated the oxidative damage and cellular senescence in the brain of TS mice and support the use of melatonin as a potential therapeutic agent for age-related cognitive deficits and neurodegeneration in adults with DS.

TÍTULO / TITLE:    - Metabolic and Growth Rate Alterations in Lymphoblastic Cell Lines Discriminate Between Down Syndrome and Alzheimer’s Disease.

REVISTA / JOURNAL:    - J Alzheimers Dis. 2016 Nov 19;55(2):737-748.

Enlace a la Editora de la Revista http://dx.doi.org/10.3233/JAD-160278

AUTORES / AUTHORS: - Coskun P; Helguera P; Nemati Z; Bohannan RC; Thomas J; Samuel SE; Argueta J; Doran E; Lott IT; Busciglio J

INSTITUCIÓN / INSTITUTION: - Department of Neurobiology and Behavior, Institute for Memory Impairments and Neurological Disorders (iMIND), and Center for the Neurobiology of Learning and Memory (CNLM), University of California, Irvine, CA, USA.  

RESUMEN / SUMMARY: - BACKGROUND: Deficits in mitochondrial function and oxidative stress play pivotal roles in Down syndrome (DS) and Alzheimer’s disease (AD) and these alterations in mitochondria occur systemically in both conditions. OBJECTIVE: We hypothesized that peripheral cells of elder subjects with DS exhibit disease-specific and dementia-specific metabolic features. To test this, we performed a comprehensive analysis of energy metabolism in lymphoblastic-cell-lines (LCLs) derived from subjects belonging to four groups: DS-with-dementia (DSAD), DS-without-dementia (DS), sporadic AD, and age-matched controls. METHODS: LCLs were studied under regular or minimal feeding regimes with galactose or glucose as primary carbohydrate sources. We assessed metabolism under glycolysis or oxidative phosphorylation by quantifying cell viability, oxidative stress, ATP levels, mitochondrial membrane potential (MMP), mitochondrial calcium uptake, and autophagy. RESULTS: DS and DSAD LCLs showed slower growth rates under minimal feeding. DS LCLs mainly dependent on mitochondrial respiration exhibited significantly slower growth and higher levels of oxidative stress compared to other groups. While ATP levels (under mitochondrial inhibitors) and mitochondrial calcium uptake were significantly reduced in DSAD and AD cells, MMP was decreased in DS, DSAD, and AD LCLs. Finally, DS LCLs showed markedly reduced levels of the autophagy marker LC3-II, underscoring the close association between metabolic dysfunction and impaired autophagy in DS. CONCLUSION: There are significant mitochondrial functional changes in LCLs derived from DS, DSAD, and AD patients. Several parameters analyzed were consistently different between DS, DSAD, and AD lines suggesting that metabolic indicators between LCL groups may be utilized as biomarkers of disease progression and/or treatment outcomes.

TÍTULO / TITLE:    - Feasibility of Lumbar Puncture in the Study of Cerebrospinal Fluid Biomarkers for Alzheimer’s Disease in Subjects with Down Syndrome.

REVISTA / JOURNAL:    - J Alzheimers Dis. 2016 Nov 14.

Enlace a la Editora de la Revista http://dx.doi.org/10.3233/JAD-160827

AUTORES / AUTHORS: - Carmona-Iragui M; Santos T; Videla S; Fernandez S; Benejam B; Videla L; Alcolea D; Blennow K; Blesa R; Lleo A; Fortea J

INSTITUCIÓN / INSTITUTION: - Memory Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Biomedical Research Institute Sant Pau, Universitat Autonoma de Barcelona, Barcelona, España.  

RESUMEN / SUMMARY: - BACKGROUND: Alzheimer’s disease (AD) is the main medical problem in older adults with Down syndrome (DS). Studies of cerebrospinal fluid (CSF) AD biomarkers are limited and the feasibility of lumbar puncture (LP) is controversial in this population. OBJECTIVE: To analyze the frequency of complications after a LP in DS. METHODS: We collected data from 80 adults with DS that underwent a LP within the Down Alzheimer Barcelona Neuroimaging Initiative. Demographics, cognitive status, headache history, and presence of complications after the LP were recorded in every subject. In 53 of them (active group), this information was collected following a semi-structured and validated protocol that actively looks for complications. Other variables related to the LP procedure were also recorded. A telephone interview to the caregiver was performed 5-7 days after the procedure to ask about complications. Data from 27 subjects (clinical practice group), from whom the presence of complications was obtained in a medical follow-up visit within the three months after the LP, were also included. RESULTS: There were no adverse events in 90% of our participants. The most frequent complication was headache (6.25%); only one subject reported a typical post-lumbar puncture headache with moderate severity that required analgesic treatment. Dizziness (3.75%) and back pain (1.25%) were also reported. All the participants that reported complications belonged to the active group. CONCLUSION: LP can be safely performed to study CSF biomarkers in DS. The reported complications are qualitatively similar to the general population, but are less frequently reported, even when actively searched for.

TÍTULO / TITLE:    - Neuronal exosomes reveal Alzheimer’s disease biomarkers in Down syndrome.

REVISTA / JOURNAL:    - Alzheimers Dement. 2016 Oct 15. pii: S1552-5260(16)32892-8. doi: 10.1016/j.jalz.2016.08.012.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.jalz.2016.08.012

AUTORES / AUTHORS: - Hamlett ED; Goetzl EJ; Ledreux A; Vasilevko V; Boger HA; LaRosa A; Clark D; Carroll SL; Carmona-Iragui M; Fortea J; Mufson EJ; Sabbagh M; Mohammed AH; Hartley D; Doran E; Lott IT; Granholm AC

INSTITUCIÓN / INSTITUTION: - Department of Neuroscience, Medical University of South Carolina, Charleston, SC, USA; The Knoebel Institute for Healthy Aging, University of Denver, Denver, CO, USA; The Center on Aging, Department of Neuroscience, Medical University of So   Lotta.granholm-bentley@DU.edu

RESUMEN / SUMMARY: - INTRODUCTION: Individuals with Down syndrome (DS) exhibit Alzheimer’s disease (AD) neuropathology and dementia early in life. Blood biomarkers of AD neuropathology would be valuable, as non-AD intellectual disabilities of DS and AD dementia overlap clinically. We hypothesized that elevations of amyloid-beta (Abeta) peptides and phosphorylated-tau in neuronal exosomes may document preclinical AD. METHODS: AD neuropathogenic proteins Abeta1-42, P-T181-tau, and P-S396-tau were quantified by enzyme-linked immunosorbent assays in extracts of neuronal exosomes purified from blood of individuals with DS and age-matched controls. RESULTS: Neuronal exosome levels of Abeta1-42, P-T181-tau, and P-S396-tau were significantly elevated in individuals with DS compared with age-matched controls at all ages beginning in childhood. No significant gender differences were observed. DISCUSSION: These early increases in Abeta1-42, P-T181-tau, and P-S396-tau in individuals with DS may provide a basis for early intervention as targeted treatments become available.

CARDIOLOGY - CARDIOLOGÍA

TÍTULO / TITLE:    - Assessment of cardiac function in absence of congenital and acquired heart disease in patients with Down syndrome.

REVISTA / JOURNAL:    - World J Pediatr. 2016 Nov;12(4):463-469. Epub 2016 Apr 8.

Enlace a la Editora de la Revista http://dx.doi.org/10.1007/s12519-016-0012-3

AUTORES / AUTHORS: - Balli S; Yucel IK; Kibar AE; Ece I; Dalkiran ES; Candan S

INSTITUCIÓN / INSTITUTION: - Department of Pediatric Cardiology, Balikesir Ataturk Hospital, Balikesir, Turkey.   drsevketballi@hotmail.com

RESUMEN / SUMMARY: - BACKGROUND: Extra genetic material in patients with Down syndrome (DS) may affect the function of any organ system. We evaluated cardiac functions using conventional tissue Doppler and two-dimensional speckle tracking echocardiography in patients with DS in the absence of congenital and acquired heart disease in patients. METHODS: A total of 115 patients with DS between 6 and 13 years of age with clinically and anatomically normal heart and 55 healthy children were included in this cross-sectional study. DS was diagnosed by a karyotype test. Patients with mosaic type were not included in this study. Systolic and diastolic functions were evaluated by echocardiography. RESULTS: Pulsed waved Doppler transmitral early/late inflow velocity (E/A), tissue Doppler mitral annular early/late diastolic peak velocity (Ea/Aa), transtricuspid E/A and tricuspid valve annulus Ea/Aa, pulmonary venous Doppler systolic/diastolic (S/D) wave ratio were lower in patients with Down syndrome than in the control group (P=0.04, P=0.001, P<0.05, P<0.001, P<0.001, respectively). Mitral and tricuspid annular Ea were lower in patients with DS (P<0.001). The right and left ventricular myocardial performance indexes were higher in patients with DS than in the controls (P<0.01). They had significantly higher left ventricular mass, ejection fraction, the mitral annular plane systolic excursion values. However, the Down syndrome group compared with the controls had a lower strain values examined by two-dimensional longitudinal speckle-tracking strain echocardiography. CONCLUSION: These findings suggest conventional tissue Doppler and two-dimensional longitudinal speckletracking strain echocardiography were useful methods of investigating ventricular function and identifying a higher incidence of biventricular dysfunction in patients with Down syndrome compared with the healthy controls.

TÍTULO / TITLE:    - Congenital heart disease and Down syndrome: various aspects of a confirmed association.

REVISTA / JOURNAL:    - Cardiovasc J Afr. 2016 Sep/Oct;27(5):287-290. doi: 10.5830/CVJA-2016-019.

Enlace a la Editora de la Revista http://dx.doi.org/10.5830/CVJA-2016-019

AUTORES / AUTHORS: - Benhaourech S; Drighil A; Hammiri AE;

INSTITUCIÓN / INSTITUTION: - Cardiology Department, University Hospital Ibn Rochd, Casablanca, Morocco.   Sanaa_b19@hotmail.fr

RESUMEN / SUMMARY: - BACKGROUND: Congenital heart disease (CHD) is frequently described in patients with Down syndrome (DS) and is the main cause of death in this population during the first two years of life. The spectrum of CHD patterns in DS varies widely worldwide; this variation could be due to sociodemographic, genetic and geographic factors. METHODS: A six-year retrospective, descriptive study was carried out from December 2008 to October 2014, based on the Paediatric Unit CHD registry of Ibn Rochd University Hospital. Clinical, echocardiographic and outcomes data were collected and sorted according to confirmation of the syndrome. RESULTS: Among 2 156 patients with CHD, 128 were identified with Down syndrome. The genders were equally represented (gender ratio 1) and the median age at diagnosis was 9.5 months (2 days to 16 years). The median age of mothers at delivery was 39 years (16-47). Of the 186 CHD lesions reported, the most common was atrioventricular septal defect (AVSD, 29%), followed by ventricular septal defect (VSD, 21.5%) and atrial septal defect (ASD, 19.9%). The most common associations of CHD were AVSD + ASD (10%) and VSD + ASD (7.8%). Surgery was the most common modality of treatment (54.3%). The overall mortality rate was 14.1%. CONCLUSION: Our study confirmed that the profile and type of CHD in DS in the Moroccan setting exhibited slight differences in the distribution of these CHDs compared with European neighbours and other Western countries. Further studies are needed to determine which variables have an impact on these differences.

DENTAL - DENTAL

TÍTULO / TITLE:    - Four years survival and marginal bone loss of implants in patients with Down syndrome and cerebral palsy.

REVISTA / JOURNAL:    - Clin Oral Investig. 2016 Oct 14.

Enlace a la Editora de la Revista http://dx.doi.org/10.1007/s00784-016-1970-5

AUTORES / AUTHORS: - Corcuera-Flores JR; Lopez-Gimenez J; Lopez-Gimenez A; Silvestre-Rangil J; Machuca-Portillo G;

INSTITUCIÓN / INSTITUTION: - Department of Estomatology, University of Seville, Seville, España.   gmachuca@us.es

RESUMEN / SUMMARY: - OBJECTIVES: To evaluate implant survival rate and marginal bone loss (MBL) after 4 years in patients with Down syndrome and cerebral palsy, compared with a healthy control group. MATERIAL AND METHODS: The case group comprises 102 implants in 19 patients (71 cerebral palsy, 21 Down syndrome), and the control group comprises 70 implants in 22 healthy patients. One implant per patient was selected (n = 41 implants) to take clustering effects into account. MBL was measured using two panoramic radiographs (after surgery and 4 years later). Lagervall-Jansson’s Index was used. Statistics used are chi-squared test and Haberman’s post hoc test. p Value is significant at <0.05. RESULTS: MBL was significantly higher in the cases in all samples (p < 0.001) and when one implant was selected per patient (p < 0.05). More implants were lost in the cases (p < 0.01), especially those with a higher MBL (p < 0.01). MBL (p < 0.05) and implant loss (p < 0.01) increased with age in the cases. The three-unit fixed dental prosthesis (FDP) showed higher MBL (p < 0.05). Down syndrome had a higher MBL than cerebral palsy (entire sample p < 0.0001, one implant per patient p< 0.05). All patients with Down syndrome saw some damage to bone support (entire sample p < 0.0001; one implant per patient p < 0.05). Implant loss occurred only in Down syndrome (p < 0.00001). CONCLUSIONS: MBL and implant loss 4 years after placement are higher in neuropsychiatric disabilities. Down syndrome has a higher risk of MBL and implant loss; therefore, special precautions should be taken when deciding on treatment for these patients. CLINICAL RELEVANCE: As a consequence of this pilot study, professionals should be very cautious in placing implants in patients with Down syndrome.

TÍTULO / TITLE:    - Salivary Periodontopathic Bacteria in Children and Adolescents with Down Syndrome.

REVISTA / JOURNAL:    - PLoS One. 2016 Oct 11;11(10):e0162988. doi: 10.1371/journal.pone.0162988. eCollection 2016.

Enlace a la Editora de la Revista http://dx.doi.org/10.1371/journal.pone.0162988

AUTORES / AUTHORS: - Faria Carrada C Almeida Ribeiro Scalioni F; Evangelista Cesar D; Lopes Devito K; Ribeiro LC; Almeida Ribeiro R;

INSTITUCIÓN / INSTITUTION: - Department of Pediatric Dentistry, School of Dentistry, Federal University of Juiz de Fora, Juiz de Fora, Minas Gerais, Brazil.  

RESUMEN / SUMMARY: - OBJECTIVE: To assess and compare salivary periodontopathic bacteria between groups of Down syndrome and non-Down syndrome children and adolescents. MATERIALS AND METHODS: This study included a sample of 30 Down syndrome children and adolescents (G-DS) and 30 age- and sex-matched non-Down syndrome subjects (G-ND). Clinical examination determined the gingival bleeding index (GBI) and plaque index. Unstimulated whole saliva samples were collected from all participants. The fluorescence in situ hybridization (FISH) technique identified the presence and density of eight periodontopathic bacteria in saliva. The statistical analysis included chi-square and Mann-Whitney U tests. RESULTS: In the G-DS group, bleeding on probing was more frequent (p = 0.037) and higher densities of Campylobacter rectus (p = 0.013), Porphyromonas gingivalis (p = 0.025), Treponema denticola (p = 0.026), Fusobacterium nucleatum (p = 0.013), Prevotella intermedia (p = 0.001) and Prevotella nigrescens (p = 0.008) were observed. Besides, in the G-DS, the densities of bacteria from the orange complex were significantly higher in the age group 3-7 years for F. nucleatum (p = 0.029), P. intermedia (p = 0.001) and P. nigrescens (p = 0.006). C. rectus was higher in the age group 8-12 years (p = 0.045). CONCLUSION: The results showed that children and adolescents with Down syndrome have higher susceptibility to periodontal disease and number of periodontopathic bacteria.

TÍTULO / TITLE:    - Craniofacial features as assessed by lateral cephalometric measurements in children with Down syndrome.

REVISTA / JOURNAL:    - Prog Orthod. 2016 Dec;17(1):35. Epub 2016 Nov 7.

Enlace a la Editora de la Revista http://dx.doi.org/10.1186/s40510-016-0148-7

AUTORES / AUTHORS: - Allareddy V; Ching N; Macklin EA; Voelz L; Weintraub G; Davidson E; Prock LA; Rosen D; Brunn R; Skotko BG

INSTITUCIÓN / INSTITUTION: - Department of Orthodontics, College of Dentistry and Dental Clinics, The University of Iowa, Iowa City, IA, USA.   sathpurush@gmail.com

RESUMEN / SUMMARY: - OBJECTIVE: The objective of the present study is to examine the craniofacial development of patients with Down syndrome (DS) and compare them with a neurotypical population. METHODS: This study is a cross-sectional analysis of lateral cephalometric radiographs of participants with DS. The study population consisted of children and young adults with DS aged 3-25 years. Cephalometric data were summarized by age and sex. Raw and normalized z-scores were computed. One-sample t tests were used to test whether mean z-scores differed from zero. The demographic characteristics between those with or without lateral cephalograms among all study participants were compared by Fisher’s exact tests. RESULTS: The study sample comprised of 27 participants with DS. Study subjects demonstrated a class III skeletal pattern. This was more pronounced in the older age groups as compared to younger age groups. Subjects also had an increased proportionate lower anterior face height to total facial height compared to normative standards. Gonial angles, mandibular plane angles, and airway measurements increased with age. CONCLUSIONS: Patients with Down syndrome present typically with class III skeletal pattern and long lower anterior facial heights. In patients with Down syndrome, comprehensive phase of orthodontic treatment may be best initiated following cessation of growth.

TÍTULO / TITLE:    - Assessment of Midfacial Hypoplasia in Down Syndrome Fetuses - Validity of a Two-Line Approach and Introduction of a Novel Angle (Maxilla-Mandible-Nasion Angle).

REVISTA / JOURNAL:    - Ultrasound Int Open. 2016 May;2(2):E58-62. doi: 10.1055/s-0042-106397.

Enlace a la Editora de la Revista http://dx.doi.org/10.1055/s-0042-106397

AUTORES / AUTHORS: - Weichert J; Gembicki M; Ribbat-Idel J; Hartge DR;

INSTITUCIÓN / INSTITUTION: - Prenatal Medicine, University Hospital of Schleswig-Holstein, Luebeck, Germany.  

RESUMEN / SUMMARY: - PURPOSE: To scrutinize the validity of a novel angle (maxilla-mandible-nasion angle, MMN) as objective proof of midfacial hypoplasia in trisomy 21 fetuses. MATERIALS AND METHODS: Volume data sets of 2(nd) trimester fetuses were reviewed in this retrospective study. After achievement of the correct midsagittal position, the fetal profile line (FP line) and the mandibulo-maxillary line (MML) were applied and the resulting angle was calculated. Additionally, the prefrontal space ratio (PFSR) was assessed. Both measurements were obtained from 401 euploid fetuses and 42 fetuses with trisomy 21. Values for MMN and PFSR<5(th) percentile were considered abnormal. RESULTS: The study included 443 fetuses with a mean gestational age of 21.3 weeks (range: 14.0-26.3). The MMN angle sufficiently identified hypoplasia of the midface in trisomy 21 fetuses (mean: 14.6 degrees ; range: 10.1 degrees - 22.0 degrees ) compared to controls (mean: 20.5 degrees ; range: 17.3 degrees -23.7 degrees ; p<0.0001). Concomitantly, the PFSR of Down syndrome fetuses was significantly lower (mean: 0.53; range: 0.21-1.22) than in euploid individuals (1.38; range: 0.54-2.23; p<0.0001). CONCLUSION: Calculation of the novel MMN angle in 2(nd) trimester fetuses reliably allows rapid assessment of craniofacial anatomy in order to rule out the midfacial hypoplasia frequently found in trisomy 21.

TÍTULO / TITLE:    - Prevalence of Dental Anomalies in Permanent Dentition of Brazilian Individuals with Down Syndrome.

REVISTA / JOURNAL:    - Open Dent J. 2016 Aug 31;10:469-473. eCollection 2016.

Enlace a la Editora de la Revista http://dx.doi.org/10.2174/1874210601610010469

AUTORES / AUTHORS: - Cuoghi OA; Topolski F; Perciliano de Faria L; Occhiena CM; Ferreira ND; Ferlin CR; Rogerio de Mendonca M;

INSTITUCIÓN / INSTITUTION: - Department of Pediatric and Community Dentistry, Dental School of Aracatuba, Univ Estadual Paulista - UNESP (Sao Paulo State University), Sao Paulo, Brazil.  

RESUMEN / SUMMARY: - OBJECTIVE: The aim of this study was to evaluate the incidence of dental anomalies in the permanent dentition of individuals with Down Syndrome (DS) to increase the knowledge on the dental issues in this syndrome. METHOD: One hundred and five panoramic X-rays of patients with DS (61 males and 44 females), aged 7 to 42 years were used. The data were statistically analyzed using bivariate analyses test (p <0.05). RESULTS: Dental anomalies were observed in 50.47% of the sample. More than one anomaly was observed in 9.52% of the individuals. The most frequent dental anomalies were hypodontia and microdontia (16.19%), followed by retained tooth (10.47%), taurodontism (9.52%), supernumerary teeth (5.71%), macrodontia (2.85%) and root dilaceration (0.95%). There was no statistically significant difference between genders for any of the anomalies. CONCLUSION: A high prevalence of dental anomalies was observed in individuals with DS. The results of the present study reinforce the importance of good dental care, offering a greater basis for professionals who provide dental service to these patients.

EAR/NASAL - OTORRINOLARINGOLOGÍA

TÍTULO / TITLE:    - Current demand of paediatric otolaryngology input for children with Down’s syndrome in a tertiary referral centre.

REVISTA / JOURNAL:    - J Laryngol Otol. 2016 Nov;130(11):995-1000. Epub 2016 Oct 6.

Enlace a la Editora de la Revista http://dx.doi.org/10.1017/S0022215116008963

AUTORES / AUTHORS: - Khalid-Raja M; Tzifa K

INSTITUCIÓN / INSTITUTION: - ENT Department,Birmingham Children’s Hospital,UK.  

RESUMEN / SUMMARY: - OBJECTIVE: This study aimed to evaluate the activity of paediatric otolaryngology services required for children with Down’s syndrome in a tertiary referral centre. METHODS: A review of the paediatric otolaryngology input for children with Down’s syndrome was performed; data were obtained from the coding department for a two-year period and compared with other surgical specialties. RESULTS: Between June 2011 and May 2013, 106 otolaryngology procedures were performed on children with Down’s syndrome. This compared to 87 cardiac and 81 general paediatrics cases. The most common pathologies in children with Down’s syndrome were obstructive sleep apnoea, otitis media, hearing loss and cardiac disease. The most common otolaryngology procedures performed were adenoidectomy, tonsillectomy, grommet insertion and bone-anchored hearing aid implant surgery. CONCLUSION: ENT manifestations of Down’s syndrome are common. Greater provisions need to be made to streamline the otolaryngology services for children and improve transition of care to adult services.

TÍTULO / TITLE:    - Drug-induced sedation endoscopy in surgically naive children with Down syndrome and obstructive sleep apnea.

REVISTA / JOURNAL:    - Sleep Med. 2016 Aug;24:63-70. doi: 10.1016/j.sleep.2016.06.018. Epub 2016 Aug 22.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.sleep.2016.06.018

AUTORES / AUTHORS: - Maris M; Verhulst S; Saldien V; Van de Heyning P; Wojciechowski M; Boudewyns A;

INSTITUCIÓN / INSTITUTION: - Department of Otorhinolaryngology, Head and Neck Surgery, University Hospital Antwerp, Belgium-Antwerp University, Belgium.   an.boudewyns@uza.be

RESUMEN / SUMMARY: - OBJECTIVE: To describe the pattern of upper airway (UA) obstruction in surgically naive children with Down syndrome and obstructive sleep apnea (OSA), and to evaluate the outcome of drug-induced sedation endoscopy (DISE)-directed treatment. METHODS: A prospective study of DISE in surgically naive children with Down syndrome and OSA was performed. Treatment was individually tailored based on the DISE findings and was evaluated by control polysomnography (PGS). Results are presented as median (lower-upper quartile) unless otherwise stated. RESULTS: In 41 children, aged 4.2 years (range, 2.8-6.0) with a body mass z score of 1.04 (-0.55 to 1.82) and obstructive apnea-hypopnea index (oAHI) of 10.1/h (range, 6.3-23.0), DISE was performed. Adeno-/tonsillar obstruction was found in 75.6% of the patients, and these patients subsequently underwent UA surgery. Seven patients were non-surgically treated, and three received a combined treatment. A multilevel collapse was present in 85.4%. Tongue base obstruction was present in ten patients (24.4%) and epiglottic collapse in 48.8%. Pre- and postoperative PSG data were available for 25 children (adenotonsillectomy, n = 16; tonsillectomy, n = 7; adenoidectomy, n = 2). A significant improvement in oAHI from 11.4/h (range, 7.7-27.0) to 5.5/h (range, 2.1-7.6) was found. Persistent OSA was present in 52% of the children. No significant association between different DISE findings and persistent OSA could be found. CONCLUSION: Most patients with Down syndrome and OSA present with multilevel collapse on DISE. Adenotonsillectomy results in a significant improvement of the oAHI; however more than half of the patients had persistent OSA, probably due to multilevel collapse. Upper airway evaluation may provide more insights into the pattern of UA obstruction in patients with persistent OSA.

ENDOCRINOLOGY/NUTRITION - ENDOCRINOLOGÍA/NUTRICIÓN

TÍTULO / TITLE:    - Diverging results of areal and volumetric bone mineral density in Down syndrome.

REVISTA / JOURNAL:    - Osteoporos Int. 2016 Nov 12.

Enlace a la Editora de la Revista http://dx.doi.org/10.1007/s00198-016-3814-1

AUTORES / AUTHORS: - Garcia-Hoyos M; Garcia-Unzueta MT; de Luis D; Valero C; Riancho JA

INSTITUCIÓN / INSTITUTION: - Department of Internal Medicine, University Hospital Marques de Valdecilla, University of Cantabria, RETICEF, IDIVAL, Santander, España   mirvdc@humv.es

RESUMEN / SUMMARY: - Population with Down syndrome (DS) has lower areal BMD, in association with their smaller skeletal size. However, volumetric BMD and other indices of bone microarchitecture, such as trabecular bone score (TBS) and calcaneal ultrasound (QUS), were normal. INTRODUCTION: Patients with DS have a number of risk factors that could predispose them to osteoporosis. Several studies reported that people with DS also have lower areal bone mineral density, but differences in the skeletal size could bias the analysis. METHODS: Seventy-five patients with DS and 76 controls without intellectual disability were recruited. Controls were matched for age and sex. Bone mineral density (BMD) was measure by Dual-energy X-ray Absorptiometry (DXA), and volumetric bone mineral density (vBMD) was calculated by published formulas. Body composition was also measured by DXA. Microarchitecture was measured by TBS and QUS. Serum 25-hidroxyvitamin D (25OHD), parathyroid hormone (PTH), aminoterminal propeptide of type collagen (P1NP), and C-terminal telopeptide of type I collagen (CTX) were also determined. Physical activity was assessed by the International Physical Activity Questionnaires (IPAQ-short form). To evaluate nutritional intake, we recorded three consecutive days of food. RESULTS: DS individuals had lower height (151 +/- 11 vs. 169 +/- 9 cm). BMD was higher in the controls (lumbar spine (LS) 0.903 +/- 0.124 g/cm2 in patients and 0.997 +/- 0.115 g/cm2 in the controls; femoral neck (FN) 0.761 +/- .126 g/cm2 and 0.838 +/- 0.115 g/cm2, respectively). vBMD was similar in the DS group (LS 0.244 +/- 0.124 g/cm3; FN 0.325 +/- .0.073 g/cm3) and the controls (LS 0.255 +/- 0.033 g/cm3; FN 0.309 +/- 0.043 g/cm3). Microarchitecture measured by QUS was slightly better in DS, and TBS measures were similar in both groups. 25OHD, PTH, and CTX were similar in both groups. P1NP was higher in the DS group. Time spent on exercise was similar in both groups, but intensity was higher in the control group. Pop

EPIDEMIOLOGY - EPIDEMIOLOGÍA

TÍTULO / TITLE:    - Observed Rate of Down Syndrome in Twin Pregnancies.

REVISTA / JOURNAL:    - Obstet Gynecol. 2016 Nov;128(5):1127-1133.

Enlace a la Editora de la Revista http://dx.doi.org/10.1097/AOG.0000000000001690

AUTORES / AUTHORS: - Sparks TN; Norton ME Flessel M Goldman S Currier RJ

INSTITUCIÓN / INSTITUTION: - Division of Maternal-Fetal Medicine, Department of Obstetrics, Gynecology, and Reproductive Sciences, and the Division of Medical Genetics, Department of Pediatrics, University of California, San Francisco, San Francisco, and the Genetic Di  

RESUMEN / SUMMARY: - OBJECTIVE: To evaluate the observed incidence of Down syndrome in twins compared with that expected based on maternal age-matched singletons, which is the current clinical approach. METHODS: This was a retrospective review of California Prenatal Screening Program participants with expected delivery dates between July 1995 and December 2012. Cases confirmed prenatally or postnatally with a genetic imbalance leading to phenotypic Down syndrome (trisomy 21, mosaic trisomy 21, or translocations) were included. Pregnancies conceived with ovum donation and women older than 45 years were excluded. We compared the observed Down syndrome incidence per pregnancy for twins with expected incidence by extrapolating from singleton data and expected zygosity as is the current clinical approach. This extrapolation assumes that monozygotic pregnancies have equivalent Down syndrome risk per pregnancy relative to maternal age-matched singletons and dizygotic pregnancies have twice the risk of at least one affected fetus. Zygosity for affected cases was presumed to be monozygotic with Down syndrome concordance and dizygotic with Down syndrome discordance. Counts were compared using cumulative Poisson distributions. RESULTS: Of 77,279 twin pregnancies, 182 (0.2%) had at least one fetus with Down syndrome confirmed by karyotype. The ratio of observed-to-expected Down syndrome incidence per pregnancy was 33.6%, 75.2%, and 70.0% for monozygotic, dizygotic, and all twins, respectively (P<.001 for all comparisons). Considering maternal age subgroups and twin zygosity, a significantly lower-than-expected Down syndrome incidence was seen for women aged 25 to 45 years with monozygotic pregnancies and overall for women aged 25 to 45 years with dizygotic pregnancies. CONCLUSION: The observed incidence of Down syndrome in twin pregnancies is lower than expected, most notably for monozygotic pregnancies and with increasing maternal age. Risk-based counseling can strongly affect women’s choices rega

TÍTULO / TITLE:    - A population-based study of prevalence of Down syndrome in Southern Thailand.

REVISTA / JOURNAL:    - World J Pediatr. 2016 Nov 23.

Enlace a la Editora de la Revista http://dx.doi.org/10.1007/s12519-016-0071-5

AUTORES / AUTHORS: - Jaruratanasirikul S; Kor-Anantakul O; Chowvichian M; Limpitikul W; Dissaneevate P; Sattapanyo A;Intharasangkanawin N; Pathompanitrat S

INSTITUCIÓN / INSTITUTION: - Faculty of Medicine, Prince of Songkla University, Hat Yai, Songkhla, 90110, Thailand.   somchit.j@psu.ac.th

RESUMEN / SUMMARY: - BACKGROUND: Down syndrome (DS) is the most common chromosomal disorder that causes mental retardation. In 2009, a population-based birth defects study was implemented in three provinces in southern Thailand. This study aimed to determine the prevalence of DS in the studied regions, and the proportion of DS fetuses detected by prenatal screening. METHODS: Data were obtained from a population-based surveillance study undertaken during 2009-2013. Entries in the birth defects registry included live births, stillbirths after 24 weeks gestational age, and terminations of pregnancy following prenatal diagnosis. Infants with clinical characteristics of DS had a chromosomal study to make a definite diagnosis. RESULTS: Of the total 186 393 births recorded during the study period, 226 DS cases were listed, giving a prevalence of 1.21 per 1000 births [95% confidence interval (CI) 1.05-1.37]. The median maternal age was 36.5 years with a percentage of maternal age >/=35 years of 60.6%. Seventy-seven cases (34.1% of all cases) were diagnosed prenatally and these pregnancies were terminated. The prevalence of DS per 1000 births was significantly higher in older women, from 0.47 (95% CI 0.28-0.67) in mothers aged <30 years to 0.88 (95% CI 0.59-1.17) in mothers 30- <35 years (P<0.01), and to 4.74 (95% CI 3.95-5.53) in mothers >/=35 years (P<0.001). CONCLUSIONS: The prevalence of DS significantly increased with maternal age. About 35% of DS cases were detected prenatally and later terminated. Hence, examining only registry live births will result in an inaccurate prevalence rate of DS.

GASTROENTEROLOGY - GASTROENTEROLOGÍA

TÍTULO / TITLE:    - Strangulation by Feeding Tube in a 23-Month-Old With Down Syndrome: Case Report and Review of Literature.

REVISTA / JOURNAL:    - Am J Forensic Med Pathol. 2016 Dec;37(4):245-247.

Enlace a la Editora de la Revista http://dx.doi.org/10.1097/PAF.0000000000000278

AUTORES / AUTHORS: - Woodham PC; Fulcher JW Ward ME

INSTITUCIÓN / INSTITUTION: - From the *University of South Carolina School of Medicine Greenville; daggerOffice of the Medical Examiner; double daggerPathology Associates of Greenville; and the section signGreenville Health System University Medical Center, Greenville,  

RESUMEN / SUMMARY: - Ligature strangulation, although typically homicidal in nature, has been reported as accidental in both the pediatric and adult populations. The unique mode of accidental strangulation with a gastric feeding tube in a 23-month-old with Down syndrome is currently unreported in the literature and has prompted us to report this case and look into safety modifications that can be made to these common medical devices. Given the number of children with gastric feeding tubes and concern over this exact scenario brought up by parents, it is unusual that a similar case has not been reported.

TÍTULO / TITLE:    - Direct Acting Antivirals in Patients with Chronic Hepatitis C and Down Syndrome.

REVISTA / JOURNAL:    - Case Rep Infect Dis. 2016;2016:2605302. Epub 2016 Oct 26.

Enlace a la Editora de la Revista http://dx.doi.org/10.1155/2016/2605302

AUTORES / AUTHORS: - Yoo ER; Perumpail RB; Cholankeril G; Ahmed A

INSTITUCIÓN / INSTITUTION: - Division of Gastroenterology and Hepatology, Stanford University School of Medicine, Stanford, CA, USA.  

RESUMEN / SUMMARY: - Patients with Down syndrome who received blood transfusions, likely in conjunction with cardiothoracic surgery for congenital heart disease and prior to the implementation of blood-donor screening for hepatitis C virus infection, face a substantial risk of acquiring the infection. In the past, interferon-based therapy for chronic hepatitis C infection in patients with Down syndrome was noted to have lower efficacy and potentially higher risk of adverse effects. Recently, the treatment for chronic hepatitis C has been revolutionized with the introduction of interferon-free direct acting antivirals with favorable safety, tolerability, and efficacy profile. Based on our experiences, the newly approved sofosbuvir-based direct acting antiviral therapy is well tolerated and highly efficacious in this subpopulation of hepatitis C virus infected patients with Down syndrome.

TÍTULO / TITLE:    - Anaesthetic Management of a Case of Down’s Syndrome with Achalasia Cardia.

REVISTA / JOURNAL:    - J Clin Diagn Res. 2016 Oct;10(10):UD03-UD05. Epub 2016 Oct 1.

Enlace a la Editora de la Revista http://dx.doi.org/10.7860/JCDR/2016/21986.8616

AUTORES / AUTHORS: - Santha N; Upadya M; Vishwanatham S

INSTITUCIÓN / INSTITUTION: - Assistant Professor, Department of Anesthesiology, Kasturba Medical College, Manipal University , Mangalore, Karnataka, India  

RESUMEN / SUMMARY: - Achalasia cardia is a disorder of the gastrointestinal tract characterized by dilatation of the oesophagus and collection of food and fluids in the oesophagus leading to massive regurgitation and aspiration of gastric contents. Down’s syndrome has multisystem effects which can also present as difficult airway. Here, we present a case of a 14-year-old girl, a case of Down’s syndrome with Achalasia cardia and mitral valve prolapse posted for Heller’s cardiomyotomy. Anaesthetic concerns were difficult airway due to Downs’s syndrome, massive aspiration risks of Achalasia cardia and haemodynamic instability due to mitral regurgitation. In spite of proper preparation of the patient there was massive regurgitation of oesophageal contents during intubation which was managed successfully. Haemodynamic changes due to mitral valve prolapse also had to be taken care of during the intraoperative period. Postoperative period was uneventful and the child was discharged after one week.

GENETICS - GENÉTICA

TÍTULO / TITLE:    - Epigenomic engineering for Down syndrome.

REVISTA / JOURNAL:    - Neurosci Biobehav Rev. 2016 Dec;71:323-327. doi: 10.1016/j.neubiorev.2016.09.012. Epub 2016 Sep 16.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.neubiorev.2016.09.012

AUTORES / AUTHORS: - Mentis AF

INSTITUCIÓN / INSTITUTION: - The Johns Hopkins University, AAP, 3400 North Charles Street - Wyman Park Building S - 612, Baltimore, MD 21218, United States.   amentis1@jhu.edu

RESUMEN / SUMMARY: - Down syndrome (DS; trisomy 21), the commonest genetic cause of mental disability, affects approximately 250,000 families in the United States alone. Despite milestones in understanding the specific genetic causes of the syndrome, the major symptoms of DS - not least those related to neurocognitive function - are incurable. DS phenotypes are highly variable, and gene expression patterns cannot be explained by trisomy alone, implicating epigenetics in DS pathophysiology. DNA and histone modifications appear to contribute to DS pathology and cognitive defects, and epigenomic, and genome editing research have very recently opened up novel therapeutic avenues for several diseases including DS. Here, we discuss how epigenomic therapies might be used to ameliorate DS-related phenotypes with a particular focus on the CRISPR-Cas 9 system for targeted epigenomic engineering in DS. This approach is likely to reap rewards in terms of understanding the pathophysiology of DS, especially when combined with animal models, but significant technical and ethical challenges must be overcome for clinical translation.

TÍTULO / TITLE:    - Changing Paradigms in Down Syndrome: The First International Conference of the Trisomy 21 Research Society.

REVISTA / JOURNAL:    - Mol Syndromol. 2016 Oct;7(5):251-261. Epub 2016 Sep 16.

Enlace a la Editora de la Revista http://dx.doi.org/10.1159/000449049

AUTORES / AUTHORS: - Delabar JM; Allinquant B; Bianchi D; Blumenthal T; Dekker A; Edgin J; O’Bryan J; Dierssen M; Potier MC; Wiseman F; Guedj F; Creau N; Reeves R; Busciglio J

INSTITUCIÓN / INSTITUTION: - Brain and Spine Institute, Hospital Pitie-Salpetriere, Paris, France; University of Paris Diderot, Paris, France.  

RESUMEN / SUMMARY: - Down syndrome (DS) is the most common genetic cause of intellectual disability (ID) in humans with an incidence of approximately 1:1,000 live births worldwide. It is caused by the presence of an extra copy of all or a segment of the long arm of human chromosome 21 (trisomy 21). People with DS present with a constellation of phenotypic alterations involving most organs and organ systems. ID is present in all people with DS, albeit with variable severity. DS is also the most frequent genetic cause of Alzheimer’s disease (AD), and approximately 50% of those with DS will develop AD-related dementia. In the last few years, significant progress has been made in understanding the crucial genotype-phenotype relationships in DS, in identifying the alterations in molecular pathways leading to the various clinical conditions present in DS, and in preclinical evaluations of potential therapies to improve the overall health and well-being of individuals with DS. In June 2015, 230 scientists, advocates, patients, and family members met in Paris for the 1st International Conference of the Trisomy 21 Research Society. Here, we report some of the most relevant presentations that took place during the meeting.

TÍTULO / TITLE:    - Mouse-based genetic modeling and analysis of Down syndrome.

REVISTA / JOURNAL:    - Br Med Bull. 2016 Oct 27.

Enlace a la Editora de la Revista http://dx.doi.org/10.1093/bmb/ldw040

AUTORES / AUTHORS: - Xing Z; Li Y; Pao A; Bennett AS; Tycko B; Mobley WC; Yu YE;

INSTITUCIÓN / INSTITUTION: - The Children’s Guild Foundation Down Syndrome Research Program, Genetics Program and Department of Cancer Genetics, Roswell Park Cancer Institute, Buffalo, NY 14263, USA Cellular and Molecular Biology Program, Roswell Park Division of Gradu   yuejin.yu@roswellpark.org

RESUMEN / SUMMARY: - INTRODUCTION: Down syndrome (DS), caused by human trisomy 21 (Ts21), can be considered as a prototypical model for understanding the effects of chromosomal aneuploidies in other diseases. Human chromosome 21 (Hsa21) is syntenically conserved with three regions in the mouse genome. SOURCES OF DATA: A review of recent advances in genetic modeling and analysis of DS. Using Cre/loxP-mediated chromosome engineering, a substantial number of new mouse models of DS have recently been generated, which facilitates better understanding of disease mechanisms in DS. AREAS OF AGREEMENT: Based on evolutionary conservation, Ts21 can be modeled by engineered triplication of Hsa21 syntenic regions in mice. The validity of the models is supported by the exhibition of DS-related phenotypes. AREAS OF CONTROVERSY: Although substantial progress has been made, it remains a challenge to unravel the relative importance of specific candidate genes and molecular mechanisms underlying the various clinical phenotypes. GROWING POINTS: Further understanding of mechanisms based on data from mouse models, in parallel with human studies, may lead to novel therapies for clinical manifestations of Ts21 and insights to the roles of aneuploidies in other developmental disorders and cancers.

TÍTULO / TITLE:    - Prenatal diagnosis of trisomy 21, 18 and 13 by quantitative pyrosequencing of segmental duplications.

REVISTA / JOURNAL:    - Clin Genet. 2016 Nov;90(5):451-455. doi: 10.1111/cge.12772. Epub 2016 Apr 8.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/cge.12772

AUTORES / AUTHORS: - Tong H; Jin Y; Xu Y; Zou B; Ye H; Wu H; Kumar S; Pitman JL; Zhou G; Song Q

INSTITUCIÓN / INSTITUTION: - Key Laboratory of Drug Quality Control and Pharmacovigilance of Ministry of Education, China Pharmaceutical University, Nanjing, China.   ghzhou@nju.edu.cn

RESUMEN / SUMMARY: - Chromosomal aberration mostly occurs in chromosomes 21, 18 and 13, with an incidence approximately 1 out of 160 live births in humans, therefore making prenatal diagnosis necessary in clinics. Current methods have drawbacks such as time consuming, high cost, complicated operations and low sensitivity. In this paper, a novel method for rapid and accurate prenatal diagnosis of aneuploidy is proposed based on pyrosequencing, which quantitatively detects the peak height ratio (PHR) of different bases of segmental duplication. A direct polymerase chain reaction (PCR) approach was undertaken, where a small volume of amniotic fluid was used as the starting material without DNA extraction. Single-stranded DNA was prepared from PCR products and subsequently analyzed using pyrosequencing. The PHR between target and reference chromosome of 2.2 for euploid and 3:2 for a trisomy fetus were used as reference. The reference intervals and z scores were calculated for discrimination of aneuploidy. A total of 132 samples were collected, within trisomy 21 (n = 11), trisomy 18 (n = 3), trisomy 13 (n = 2), and unaffected controls (n = 116). A set of six segmental duplications were chosen for analysis. This method had consistent results with karyotyping analysis, a correct diagnosis with 100% sensitivity and 99.9% specificity.

TÍTULO / TITLE:    - A polymorphism (rs1042522) in TP53 gene is a risk factor for Down Syndrome in Sicilian mothers.

REVISTA / JOURNAL:    - J Matern Fetal Neonatal Med. 2016 Dec 7:1-3.

Enlace a la Editora de la Revista http://dx.doi.org/10.1080/14767058.2016.1262343

AUTORES / AUTHORS: - Salemi M; Barone C; Salluzzo MG; Giambirtone M; Scillato F; Galati Rando R; Romano C; Morale MC; Ridolfo F; Romano C

INSTITUCIÓN / INSTITUTION: - IRCCS Associazione Oasi Institute for Research on Mental Retardation and Brain Aging , Troina , Italy.  

RESUMEN / SUMMARY: - OBJECTIVE: Trisomy 21 is the most frequent genetic cause of intellectual disability. Tumor Protein 53 (TP53) gene down-regulation triggers chromosomal instability. A TP53 gene polymorphism c.215G > C (rs1042522) is associated with accumulation of aneuploid cells. We analyzed the TP53 c.215G > C (rs1042522) polymorphism in Sicilian mothers of subjects with Down Syndrome (DS) within a case-control study. METHODS: Nucleotide polymorphism was detected by pyrosequencing technology. RESULTS: The distribution of TP53 c.215G > C polymorphism showed significant difference between mothers of subjects with DS and controls. CONCLUSIONS: Our data show that TP53 c.215G > C polymorphism is a risk factor for DS in Sicilian mothers.

TÍTULO / TITLE:    - A de novo 2.78-Mb duplication on chromosome 21q22.11 implicates candidate genes in the partial trisomy 21 phenotype.

REVISTA / JOURNAL:    - NPJ Genom Med. 2016;1. pii: 16003. Epub 2016 Mar 2.

Enlace a la Editora de la Revista http://dx.doi.org/10.1038/npjgenmed.2016.3

AUTORES / AUTHORS: - Weisfeld-Adams JD; Tkachuk AK; Maclean KN; Meeks NL; Scott SA

INSTITUCIÓN / INSTITUTION: - Division of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO, USA; Medical Genetics Clinic, Children’s Hospital Colorado, Aurora, CO, USA.  

RESUMEN / SUMMARY: - Down syndrome (DS) is the most common genetic cause of intellectual disability (ID) and in the majority of cases is the result of complete trisomy 21. The hypothesis that the characteristic DS clinical features are due to a single DS critical region (DSCR) at distal chromosome 21q has been refuted by recently reported segmental trisomy 21 cases characterised by microarray-based comparative genomic hybridisation (aCGH). These rare cases have implicated multiple regions on chromosome 21 in the aetiology of distinct features of DS; however, the map of chromosome 21 copy-number aberrations and their associated phenotypes remains incompletely defined. We report a child with ID who was deemed very high risk for DS on antenatal screening (1 in 13) and has partial, but distinct, dysmorphologic features of DS without congenital heart disease (CHD). Oligonucleotide aCGH testing of the proband detected a previously unreported de novo 2.78-Mb duplication on chromosome 21q22.11 that includes 16 genes; however, this aberration does not harbour any of the historical DSCR genes (APP, DSCR1, DYRK1A and DSCAM). This informative case implicates previously under-recognised candidate genes (SOD1, SYNJ1 and ITSN1) in the pathogenesis of specific DS clinical features and supports a critical region for CHD located more distal on chromosome 21q. In addition, this unique case illustrates how the increasing resolution of microarray and high-throughput sequencing technologies can continue to reveal new biology and enhance understanding of widely studied genetic diseases that were originally described over 50 years ago.

TÍTULO / TITLE:    - Integrated analysis of DNA methylation and RNAsequencing data in Down syndrome.

REVISTA / JOURNAL:    - Mol Med Rep. 2016 Nov;14(5):4309-4314. doi: 10.3892/mmr.2016.5778. Epub 2016 Sep 26.

Enlace a la Editora de la Revista http://dx.doi.org/10.3892/mmr.2016.5778

AUTORES / AUTHORS: - Zhang J; Zhou W; Liu Y; Li N;

INSTITUCIÓN / INSTITUTION: - Department of Colorectal Anal Surgery, The First Hospital of Jilin University, Changchun, Jilin 130021, P.R. China.  

RESUMEN / SUMMARY: - Down syndrome (DS) is the most common birth defect in children. To investigate the mechanisms of DS, the present study analyzed the bisulfitesequencing (seq) data GSE42144, which was downloaded from the Gene Expression Omnibus. GSE42144 included DNA methylation data of three DS samples and three control samples, and RNAseq data of two DS samples and five control samples. The methylated sites in the bisulfiteseq data were detected using Bismark and Bowtie2. The BiSeq tool was applied to determine differentially methylated regions and to identify adjacent genes. Using the Database for Annotation, Visualization and Integrated Discovery, the functions of the abnormal demethylated genes were predicted by functional enrichment analyses. Differentially expressed genes (DEGs) were then screened using a paired ttest. Furthermore, the interactions of the proteins encoded by selected genes were determined using the Search Tool for the Retrieval of Interacting Genes, and a proteinprotein interaction (PPI) network was constructed using Cytoscape. A total of 74 CpG regions showed significant differential DNA methylation between the DS and normal samples. There were five abnormal demethylated DNA regions in chromosome 21. In the DS samples, a total of 43 adjacent genes were identified with demethylation in their promoter regions and one adjacent gene was identified with upregulated methylation in its promoter regions. In addition, 584 upregulated genes were identified, including 24 genes with transcriptional regulatory function. In particular, upregulated Runtrelated transcription factor 1 (RUNX1) was located on chromosome 21. Functional enrichment analysis indicated that inhibitor of DNA binding 4 (ID4) was involved in neuronal differentiation and transcriptional suppression. In the PPI network, genes may be involved in DS by interacting with others, including nuclear receptor subfamily 4 group A member 2 (NR4A2)early growth response (EGR)2 and NR4A2EGR3. Therefore, RUNX1, NR4A2,

GROWTH/DEVELOPMENT - CRECIMIENTO/DESARROLLO

TÍTULO / TITLE:    - Diverging results of areal and volumetric bone mineral density in Down syndrome.

REVISTA / JOURNAL:    - Osteoporos Int. 2016 Nov 12.

Enlace a la Editora de la Revista http://dx.doi.org/10.1007/s00198-016-3814-1

AUTORES / AUTHORS: - Garcia-Hoyos M; Garcia-Unzueta MT; de Luis D; Valero C; Riancho JA

INSTITUCIÓN / INSTITUTION: - Department of Internal Medicine, University Hospital Marques de Valdecilla, University of Cantabria, RETICEF, IDIVAL, Santander, España.   mirvdc@humv.es

RESUMEN / SUMMARY: - Population with Down syndrome (DS) has lower areal BMD, in association with their smaller skeletal size. However, volumetric BMD and other indices of bone microarchitecture, such as trabecular bone score (TBS) and calcaneal ultrasound (QUS), were normal. INTRODUCTION: Patients with DS have a number of risk factors that could predispose them to osteoporosis. Several studies reported that people with DS also have lower areal bone mineral density, but differences in the skeletal size could bias the analysis. METHODS: Seventy-five patients with DS and 76 controls without intellectual disability were recruited. Controls were matched for age and sex. Bone mineral density (BMD) was measure by Dual-energy X-ray Absorptiometry (DXA), and volumetric bone mineral density (vBMD) was calculated by published formulas. Body composition was also measured by DXA. Microarchitecture was measured by TBS and QUS. Serum 25-hidroxyvitamin D (25OHD), parathyroid hormone (PTH), aminoterminal propeptide of type collagen (P1NP), and C-terminal telopeptide of type I collagen (CTX) were also determined. Physical activity was assessed by the International Physical Activity Questionnaires (IPAQ-short form). To evaluate nutritional intake, we recorded three consecutive days of food. RESULTS: DS individuals had lower height (151 +/- 11 vs. 169 +/- 9 cm). BMD was higher in the controls (lumbar spine (LS) 0.903 +/- 0.124 g/cm2 in patients and 0.997 +/- 0.115 g/cm2 in the controls; femoral neck (FN) 0.761 +/- .126 g/cm2 and 0.838 +/- 0.115 g/cm2, respectively). vBMD was similar in the DS group (LS 0.244 +/- 0.124 g/cm3; FN 0.325 +/- .0.073 g/cm3) and the controls (LS 0.255 +/- 0.033 g/cm3; FN 0.309 +/- 0.043 g/cm3). Microarchitecture measured by QUS was slightly better in DS, and TBS measures were similar in both groups. 25OHD, PTH, and CTX were similar in both groups. P1NP was higher in the DS group. Time spent on exercise was similar in both groups, but intensity was higher in the control group. Pop

TÍTULO / TITLE:    - Accuracy of the prediction equation for the determination of maximum heart rate in adults with Down syndrome.

REVISTA / JOURNAL:    - J Intellect Disabil Res. 2016 Nov 14. doi: 10.1111/jir.12345.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/jir.12345

AUTORES / AUTHORS: - Boer PH

INSTITUCIÓN / INSTITUTION: - Physical Activity Sport and Recreation (PHASREC), Faculty of Health Sciences, North West University, Potchefstroom, South Africa.  

RESUMEN / SUMMARY: - BACKGROUND: The purpose of the study was to determine if the regression formula developed for the prediction of maximum heart rate (HR) is valid for adults with Down syndrome (DS). METHODS: Thirty-six adults with DS (31.7 +/- 6.8 years; 20 men, 16 women) completed a maximal aerobic test. Maximum HR and VO2 peak were measured directly on a motorised treadmill with a metabolic analyser. Predicted HR was estimated with the regression equation developed for individuals with DS (Fernhall et al. 2001). Differences between measured versus predicted maximum HR were assessed with a dependent T-test and the relationship with Pearson correlational analyses. Agreement was assessed with Bland-Altman analysis. RESULTS: There was a significant difference between directly measured maximum HR and predicted maximum HR (P < 0.01). There was no significant relationship between these variables. Bland-Altman analysis indicated that there was measurement bias (+4.7) and large limits of agreement (+26.7 and -17.4) between measured and predicted maximum HR. The Bland-Altman plot also demonstrated the presence of heteroscedasticity. CONCLUSIONS: The results indicate that the regression formula developed for individuals with DS was not accurate in this sample of DS adults aged 19 to 46 years. Future studies should develop different prediction equations for more specific age and body mass index categories for individuals with DS.

TÍTULO / TITLE:    - Body mass index cutoff point estimation as obesity diagnostic criteria in Down syndrome adolescents.

REVISTA / JOURNAL:    - Nutr Hosp. 2016 Sep 20;33(5):571. doi: 10.20960/nh.571.

AUTORES / AUTHORS: - Samur San-Matin JE; Goncalves EM Bertapelli F Mendes RT Guerra-Junior G

INSTITUCIÓN / INSTITUTION: - Laboratory of Growth and Development. Center for Investigation in Pediatrics (CIPED).   juansamur@gmail.com

RESUMEN / SUMMARY: - INTRODUCTION: Adolescents with Down syndrome (DS) show high rate of overweight and tend to accumulate high amount of fat compared to the same people without the syndrome. OBJECTIVE: To estimate the cutoff point of the Body Mass Index (BMI) for the diagnosis of obesity in adolescents with DS according to different references for BMI in relation to the percentage of body fat (%BF) measured by dual-energy X-ray absorptiometry (DXA). METHODS: The sample was composed of 34 adolescents with DS (aged: 10 to 17 years old). BMI was evaluated according to the references of the International Obesity Task Force (IOTF), the World Health Organization (WHO) for the general population, and Myrelid et al. and Styles et al. for people with DS. The %BF was assessed by whole body DXA and classified according to National Health And Nutrition Examination Survey (NHANES, 2011). RESULTS: The boys were significantly taller than the girls and this %BF higher than boys. All references who have used BMI to assess obesity was positively associated with %BF measured by DXA in the diagnosis of obesity. Using the ROC curve in relation to %BF by DXA, all references showed high sensitivity, but the z-score of BMI by WHO showed better specificity, with the value of the accuracy of 0.82 for the cutoff point above 2.14. CONCLUSIONS: All the references used for the diagnosis of obesity were associated with %BF measured by DXA, and the cutoff point of z-scores above 2.14 by WHO showed better specificity.

TÍTULO / TITLE:    - Growing up with Down syndrome: Development from 6 months to 10.7 years.

REVISTA / JOURNAL:    - Res Dev Disabil. 2016 Oct 13;59:437-450. doi: 10.1016/j.ridd.2016.09.019.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.ridd.2016.09.019

AUTORES / AUTHORS: - Marchal JP; Maurice-Stam H; Houtzager BA; Rutgers van Rozenburg-Marres SL; Oostrom KJ; Grootenhuis MA; van Trotsenburg AS

INSTITUCIÓN / INSTITUTION: - Psychosocial Department, Emma Children’s Hospital Academic Medical Center, University of Amsterdam, Post Box 22660, 1100 DD, Amsterdam, The Netherlands; Department of Paediatric Endocrinology & Psychosocial Department, Emma Children’s Hospi   j.p.marchal@amc.uva.nl

RESUMEN / SUMMARY: - BACKGROUND: We analysed developmental outcomes from a clinical trial early in life and its follow-up at 10.7 years in 123 children with Down syndrome. AIMS: To determine 1) strengths and weaknesses in adaptive functioning and motor skills at 10.7 years, and 2) prognostic value of early-life characteristics (early developmental outcomes, parental and child characteristics, and comorbidity) for later intelligence, adaptive functioning and motor skills. METHODS AND PROCEDURES: We used standardized assessments of mental and motor development at ages 6, 12 and 24 months, and of intelligence, adaptive functioning and motor skills at 10.7 years. We compared strengths and weaknesses in adaptive functioning and motor skills by repeated-measures ANOVAs in the total group and in children scoring above-average versus below-average. The prognostic value of demographics, comorbidity and developmental outcomes was analysed by two-step regression. OUTCOMES AND RESULTS: Socialisation was a stronger adaptive skill than Communication followed by Daily Living. Aiming and catching was a stronger motor skill than Manual dexterity, followed by Balance. Above-average and below-average scoring children showed different profiles of strengths and weaknesses. Gender, (the absence or presence of) infantile spasms and particularly 24-month mental functioning predicted later intelligence and adaptive functioning. Motor skills, however, appeared to be less well predicted by early life characteristics. CONCLUSIONS AND IMPLICATIONS: These findings provide a reference for expected developmental levels and strengths and weaknesses in Down syndrome.

TÍTULO / TITLE:    - The Accuracy of Anthropometric Equations to Assess Body Fat in Adults with Down Syndrome.

REVISTA / JOURNAL:    - J Appl Res Intellect Disabil. 2016 Oct 4. doi: 10.1111/jar.12290.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/jar.12290

AUTORES / AUTHORS: - Rossato M; Dellagrana RA; da Costa RM; Bezerra ES; Dos Santos JO; Rech CR;

INSTITUCIÓN / INSTITUTION: - Human Performance Laboratory, Physical Education Faculty, Federal University of Amazonas, Manaus, Brazil.   rossato.mateus@gmail.com

RESUMEN / SUMMARY: - BACKGROUND: The aim of this study was to verify the accuracy of anthropometric equations to estimate the body density (BD) of adults with Down syndrome (DS), and propose new regression equations. MATERIALS AND METHODS: Twenty-one males (30.5 +/- 9.4 years) and 17 females (27.3 +/- 7.7 years) with DS participated in this study. The reference method for BD was air displacement plethysmography (ADP). Also, the BD was estimated by anthropometric equations. The body fat percentage (BF %) was estimated by the Siri equation. RESULTS: For females, the Durnin and Womersley equation showed no difference from the ADP, but a trend of underestimation was observed. For males, all equations were significantly different for the BF % from ADP. The equations developed in this study showed a high correlation and acceptable agreement with BF % from ADP in both genders. CONCLUSION: All equations are not valid for DS adults. The new equations developed here were accurate in estimating the BF %.

GYNECOLOGY - GINECOLOGÍA

TÍTULO / TITLE:    - Low AMH levels as a marker of reduced ovarian reserve in young women affected by Down’s syndrome.

REVISTA / JOURNAL:    - Menopause. 2016 Nov;23(11):1247-1251.

Enlace a la Editora de la Revista http://dx.doi.org/10.1097/GME.0000000000000695

AUTORES / AUTHORS: - Romualdi D; Proto C De Cicco S Immediata V Barone C Romano C Lanzone A

INSTITUCIÓN / INSTITUTION: - 1Department of Obstetrics and Gynecology, Universita Cattolica del Sacro Cuore, Roma, Italia 2OASI Institute for Research on Mental Retardation and Brain Aging (IRCCS), Troina, Italia.  

RESUMEN / SUMMARY: - OBJECTIVE: Women with Down’s syndrome (DS) experience menopause earlier than healthy women and are twice as likely to undergo premature ovarian insufficiency. Menopause accelerates cognitive decline and is associated with a twofold increased mortality risk in DS women. Nonetheless, no previous studies investigated the ovarian reserve in this population. The aim of the present study was to evaluate the circulating antimullerian hormone (AMH) levels in DS women with regular menstrual cycles, in comparison with those observed in an age-matched group of healthy women. METHODS: Fourteen women with DS and 20 normo-ovulatory volunteers were enrolled in this study. A general physical examination was performed. Hormonal assays, including AMH, fasting insulin levels, and homeostatic model assessment-insulin resistance, were investigated in all participants. RESULTS: AMH levels were significantly lower in DS women compared with controls (1.34 +/- 1.11 vs 3.01 +/- 1.65 ng/mL, P < 0.01). Prolactin concentrations were in the normal range, although higher in DS women compared with controls (P < 0.01). After dividing the participants according to age, AMH was significantly lower in the DS group compared with controls, both below and above 30 years of age (1.77 vs 3.73 ng/mL, P < 0.01; 0.28 vs 2.20 ng/mL, P < 0.01, respectively). AMH was inversely correlated with age in both groups, and directly correlated with testosterone and dehydroepiandrosterone sulfate only in DS women. In the same participants, AMH showed a tendency toward a direct correlation with insulin levels (P = 0.055). CONCLUSIONS: AMH levels were significantly lower in DS women compared with age-matched controls. A subanalysis of data in DS participants under 30 years of age suggested an early follicular depletion related to trisomy 21.

HEMATOLOGY/ONCOLOGY - HEMATOLOGÍA/ONCOLOGÍA

TÍTULO / TITLE:    - Efficacy of Ifosfamide-Cisplatin-Etoposide (ICE) Chemotherapy for a CNS Germinoma in a Child With Down Syndrome.

REVISTA / JOURNAL:    - J Pediatr Hematol Oncol. 2016 Nov 22.

Enlace a la Editora de la Revista http://dx.doi.org/10.1097/MPH.0000000000000711

AUTORES / AUTHORS: - Nodomi S; Umeda K Ueno H Saida S Hiramatsu H Funaki T Arakawa Y Mizowaki T Adachi S Heike T

INSTITUCIÓN / INSTITUTION: - Departments of *Pediatrics daggerNeurosurgery double daggerRadiation Oncology and Image-Applied Therapy section signHuman Health Sciences, Graduate School of Medicine, Kyoto University, Kyoto, Japan.  

RESUMEN / SUMMARY: - Intracranial germ cell tumor is sometimes associated with Down syndrome; however, no optimal treatment has been developed due to the high risk of recurrence and treatment-related mortality. Here, we report on a patient with an intracranial germinoma in the bilateral basal ganglia. The patient received 3 courses of ifosfamide-cisplatin-etoposide in combination with whole-brain irradiation (24 Gy), with no serious complications. The patient is alive and disease free 16 months after the initial diagnosis. This regimen is a feasible treatment for intracranial germ cell tumor associated with Down syndrome, although careful attention must be paid to the increased risk for severe infection.

TÍTULO / TITLE:    - Low risk of solid tumors in persons with Down syndrome.

REVISTA / JOURNAL:    - Genet Med. 2016 Nov;18(11):1151-1157. doi: 10.1038/gim.2016.23. Epub 2016 Mar 31.

Enlace a la Editora de la Revista http://dx.doi.org/10.1038/gim.2016.23

AUTORES / AUTHORS: - Hasle H; Friedman JM; Olsen JH Rasmussen SA

INSTITUCIÓN / INSTITUTION: - Department of Pediatrics, Aarhus University Hospital, Aarhus, Denmark.  

RESUMEN / SUMMARY: - The aim of this study was to investigate cancer incidence in a large cohort of persons with Down syndrome. METHODS: Down syndrome was identified from the Danish Cytogenetic Register. Cancer occurrence was identified by linkage to the Danish Cancer Registry. Standardized incidence ratios (SIRs) and 95% confidence intervals (CIs) were calculated based on observed and expected numbers from rates for all Danish residents. The cohort consisted of 3,530 persons with Down syndrome contributing 89,570 person-years at risk. RESULTS: Acute leukemia risk was highest from 1-4 years of age and remained elevated until age 30. The overall risk of solid tumors was decreased (SIR 0.45; 95% CI 0.34-0.59), especially in persons 50 years or older (SIR 0.27; 95% CI 0.16-0.43). We found a significantly lower risk of lung cancer (SIR 0.10; 95% CI 0.00-0.56), breast cancer (SIR 0.16; 95% CI 0.03-0.47), and cervical cancer (SIR 0.0; 95% CI 0.00-0.77). Testicular cancer was the only solid tumor with an increased SIR (2.9; 95% CI 1.6-4.8). CONCLUSIONS: The risk of all major groups of solid tumors was decreased, except testicular cancer. Altered screening strategies should be considered for persons with Down syndrome. This unusual pattern of cancer occurrence may help understanding carcinogenesis in the general population.Genet Med 18 11, 1151-1157.

INFECTIOUS DISEASES - INFECCIONES

TÍTULO / TITLE:    - Fatal varicella pneumonia in an unvaccinated child with Down Syndrome: a case report.

REVISTA / JOURNAL:    - Ital J Pediatr. 2016 Nov 17;42(1):99.

Enlace a la Editora de la Revista http://dx.doi.org/10.1186/s13052-016-0312-1

AUTORES / AUTHORS: - Valentini D; Bianchi S; Di Camillo C; Vittucci AC; Gonfiantini MV; De Vito R; Villani A

INSTITUCIÓN / INSTITUTION: - Pediatric and Infectious Disease Unit, Bambino Gesu Children’s Hospital, IRCCS, Rome, Italy   diletta.valentini@opbg.net

RESUMEN / SUMMARY: - BACKGROUND: Varicella is an acute infectious disease common during childhood. It has mostly an uncomplicated course in early childhood. Neverthless, it may result in severe complications, especially in particular age groups and clinical conditions. Down Syndrome represents a risk factor for developing complications, because of the frequent comorbidities and their immunodeficiency. CASE PRESENTATION: A 2-year-old white Caucasian female affected by Down Syndrome was referred to our hospital for cardiac arrest in course of varicella disease. After cardiopulmonary resuscitation and stabilization, her clinical conditions didn’t improve and she developed a massive pulmonary hemorrage, which led her to exitus. CONCLUSIONS: Mortality due to varicella infection is rare, but it is more common in subjects with immune deficit or chronic pathologies, and in particular age-groups. The importance of the vaccine for preventable infectious diseases is stressed in this paper, in which we present a case of death in an unvaccinated cardiopathic child with Down Syndrome affected by varicella.

MOLECULAR BIOLOGY/BIOCHEMISTRY - BIOLOGÍA MOLECULAR/BIOQUÍMICA

TÍTULO / TITLE:    - Generation of improved human cerebral organoids from single copy DYRK1A knockout induced pluripotent stem cells in trisomy 21: hypothetical solutions for neurodevelopmental models and therapeutic alte

REVISTA / JOURNAL:    - Cell Biol Int. 2016 Dec;40(12):1256-1270. doi: 10.1002/cbin.10694. Epub 2016 Nov 10.

Enlace a la Editora de la Revista http://dx.doi.org/10.1002/cbin.10694

AUTORES / AUTHORS: - Caglayan ES;

INSTITUCIÓN / INSTITUTION: - Faculty of Health Science, Department of Nutrition and Dietetics, Ankara Yildirim Beyazit University, Ankara, 06010, Turkey.  

RESUMEN / SUMMARY: - Dual-specificity thyrosine phosphorylation-regulated kinase 1A (DYRK1A) is a strong therapeutic target to ameliorate cognitive functions of Down Syndrome (DS). Genetic normalization of Dyrk1a is sufficient to normalize early cortical developmental phenotypes in DS mouse models. Gyrencephalic human neocortical development is more complex than that in lissencephalic mice; hence, cerebral organoids (COs) can be used to model early neurodevelopmental defects of DS. Single copy DYRK1A knockout COs (scDYRK1AKO-COs) can be generated from manipulated DS derived (DS-) induced pluripotent stem cells (iPSCs) and genetic normalization of DYRK1A is expected to result in corrected neurodevelopmental phenotypes that can be reminiscent of normal COs. DYRK1A knock-in (DYRK1AKI) COs can be derived after genetic manipulations of normal iPSCs and would be valuable to evaluate impaired neocortical development as can be seen in DS-COs. DYRK1A mutations cause severe human primary microcephaly; hence, dose optimization studies of DYRK1A inhibitors will be critical for prenatal therapeutic applications in DS. Several doses of DYRK1A inhibitors can be tested in the neurodevelopment process of DS-COs and DS-scDYRK1AKO-COs would be used as optimum models for evaluating phenotypic ameliorations. Overdose drug exposure in DS-COs can be explained by similar defects present in DS-baDYRK1AKO-COs and DYRK1AKO-COs. There are several limitations in the current CO technology, which can be reduced by the generation of vascularized brain-like organoids giving opportunities to mimic late-stage corticogenesis and complete hippocampal development. In the future, improved DS-DYRK1AKO-COs can be efficient in studies that aim to generate efficiently transplantable and implantable neurons for tissue regeneration alternatives in DS individuals.

TÍTULO / TITLE:    - Increased non-protein bound iron in Down syndrome: contribution to lipid peroxidation and cognitive decline.

REVISTA / JOURNAL:    - Free Radic Res. 2016 Dec;50(12):1422-1431. Epub 2016 Nov 23.

Enlace a la Editora de la Revista http://dx.doi.org/10.1080/10715762.2016.1253833

AUTORES / AUTHORS: - Manna C; Officioso A; Trojsi F; Tedeschi G; Leoncini S; Signorini C; Ciccoli L; De Felice C

INSTITUCIÓN / INSTITUTION: - a Department of Biochemistry, Biophysics and General Pathology, School of Medicine , Second University of Naples , Naples , Italy.  

RESUMEN / SUMMARY: - Down syndrome (DS, trisomy 21) is the leading cause of chromosomal-related intellectual disability. At an early age, adults with DS develop with the neuropathological hallmarks of Alzheimer’s disease, associated with a chronic oxidative stress. To investigate if non-protein bound iron (NPBI) can contribute to building up a pro-oxidative microenvironment, we evaluated NPBI in both plasma and erythrocytes from DS and age-matched controls, together with in vivo markers of lipid peroxidation (F2-isoprostanes, F2-dihomo-isoprostanes, F4-neuroprostanes) and in vitro reactive oxygen species (ROS) formation in erythrocytes. The serum iron panel and uric acid were also measured. Second, we explored possible correlation between NPBI, lipid peroxidation and cognitive performance. Here, we report NPBI increase in DS, which correlates with increased serum ferritin and uric acid. High levels of lipid peroxidation markers and intraerythrocyte ROS formations were also reported. Furthermore, the scores of Raven’s Colored Progressive Matrices (RCPM) test, performed as a measure of current cognitive function, are inversely related to NPBI, serum uric acid, and ferritin. Likewise, ROS production, F2-isoprostanes, and F4-neuroprostanes were also inversely related to cognitive performance, whereas serum transferrin positively correlated to RCPM scores. Our data reveal that increased availability of free redox-active iron, associated with enhanced lipid peroxidation, may be involved in neurodegeneration and cognitive decline in DS. In this respect, we propose chelation therapy as a potential preventive/therapeutic tool in DS.

TÍTULO / TITLE:    - The contribution of the citrate pathway to oxidative stress in Down syndrome.

REVISTA / JOURNAL:    - Immunology. 2016 Dec;149(4):423-431. doi: 10.1111/imm.12659. Epub 2016 Oct 3.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/imm.12659

AUTORES / AUTHORS: - Convertini P; Menga A; Andria G; Scala I; Santarsiero A; Castiglione Morelli MA; Iacobazzi V; Infantino V;

INSTITUCIÓN / INSTITUTION: - Department of Science, University of Basilicata, Potenza, Italy.   vittoria.infantino@unibas.it

RESUMEN / SUMMARY: - Inflammatory conditions and oxidative stress have a crucial role in Down syndrome (DS). Emerging studies have also reported an altered lipid profile in the early stages of DS. Our previous works demonstrate that citrate pathway activation is required for oxygen radical production during inflammation. Here, we find up-regulation of the citrate pathway and down-regulation of carnitine/acylcarnitine carrier and carnitine palmitoyl-transferase 1 genes in cells from children with DS. Interestingly, when the citrate pathway is inhibited, we observe a reduction in oxygen radicals as well as in lipid peroxidation levels. Our preliminary findings provide evidence for a citrate pathway dysregulation, which could be related to some phenotypic traits of people with DS.

TÍTULO / TITLE:    - Coenzyme Q10 and pro-inflammatory markers in children with Down syndrome: clinical and biochemical aspects.

REVISTA / JOURNAL:    - J Pediatr (Rio J). 2016 Oct 19. pii: S0021-7557(16)30174-7. doi: 10.1016/j.jped.2016.04.012.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.jped.2016.04.012

AUTORES / AUTHORS: - Zaki ME; El-Bassyouni HT; Tosson AM; Youness E; Hussein J

INSTITUCIÓN / INSTITUTION: - Cairo University, Faculty of Medicine, Pediatrics Department, Cairo, Egypt.   amstosson@gmail.com

RESUMEN / SUMMARY: - Evidence of oxidative stress was reported in individuals with Down syndrome. There is a growing interest in the contribution of the immune system in Down syndrome. The aim of this study is to evaluate the coenzyme Q10 and selected pro-inflammatory markers such as interleukin 6 and tumor necrosis factor alpha in children with Down syndrome. METHODS: Eighty-six children (5-8 years of age) were enrolled in this case-control study from two public institutions. At the time of sampling, the patients and controls suffered from no acute or chronic illnesses and received no therapies or supplements. The levels of interleukin 6, tumor necrosis factor alpha, coenzyme Q10, fasting blood glucose, and intelligence quotient were measured. RESULTS: Forty-three young Down syndrome children and forty-three controls were included over a period of eight months (January-August 2014). Compared with the control group, the Down syndrome patients showed significant increase in interleukin 6 and tumor necrosis factor alpha (p=0.002), while coenzyme Q10 was significantly decreased (p=0.002). Also, body mass index and fasting blood glucose were significantly increased in patients. There was a significantly positive correlation between coenzyme Q10 and intelligence quotient levels, as well as between interleukin 6 and tumor necrosis factor alpha. CONCLUSION: Interleukin 6 and tumor necrosis factor alpha levels in young children with Down syndrome may be used as biomarkers reflecting the neurodegenerative process in them. Coenzyme Q10 might have a role as a good supplement in young children with Down syndrome to ameliorate the neurological symptoms.

TÍTULO / TITLE:    - Integrated microRNA and protein expression analysis reveals novel microRNA regulation of targets in fetal down syndrome.

REVISTA / JOURNAL:    - Mol Med Rep. 2016 Nov;14(5):4109-4118. doi: 10.3892/mmr.2016.5775. Epub 2016 Sep 26.

Enlace a la Editora de la Revista http://dx.doi.org/10.3892/mmr.2016.5775

AUTORES / AUTHORS: - Lin H; Sui W; Li W; Tan Q; Chen J; Lin X; Guo H; Ou M; Xue W; Zhang R; Dai Y;

INSTITUCIÓN / INSTITUTION: - Nephrology Department of the 181st Hospital, Guangxi Key Laboratory of Metabolic Diseases Research, Guilin, Guangxi 541002, P.R. China.  

RESUMEN / SUMMARY: - Down syndrome (DS) is caused by trisomy of human chromosome 21 and is associated with a number of deleterious phenotypes. To investigate the role of microRNA (miRNA) in the regulation of DS, highthroughput Illumina sequencing technology and isobaric tagging for relative and absolute protein quantification analysis were utilized for simultaneous expression profiling of miRNA and protein in fetuses with DS and normal fetuses. A total of 344 miRNAs were associated with DS. Gene Ontology and Kyoto Encyclopedia of Genes and Genomes pathway analyses were used to investigate the proteins found to be differentially expressed. Functionally important miRNAs were determined by identifying enriched or depleted targets in the transcript and the protein expression levels were consistent with miRNA regulation. The results indicated that GRB2, TMSB10, RUVBL2, the hsamiR329 and hsamiR27b, hsamiR27a targets, and MAPK1, PTPN11, ACTA2 and PTK2 or other differentially expressed proteins were connected with each other directly or indirectly. Integrative analysis of miRNAs and proteins provided an expansive view of the molecular signaling pathways in DS.

NEUROBIOLOGY - NEUROBIOLOGÍA

TÍTULO / TITLE:    - GABAergic hyperinnervation of dentate granule cells in the Ts65Dn mouse model of down syndrome: Exploring the role of App.

REVISTA / JOURNAL:    - Hippocampus. 2016 Dec;26(12):1641-1654. doi: 10.1002/hipo.22664. Epub 2016 Oct 24.

Enlace a la Editora de la Revista http://dx.doi.org/10.1002/hipo.22664

AUTORES / AUTHORS: - Mojabi FS; Fahimi A; Moghadam S; Ponnusamy R; Kleschevnikov A; Mobley WC; Salehi A;

INSTITUCIÓN / INSTITUTION: - VA Palo Alto Health Care System, Palo Alto, California. Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Palo Alto, California.  

RESUMEN / SUMMARY: - It has been suggested that increased GABAergic innervation in the hippocampus plays a significant role in cognitive dysfunction in Down syndrome (DS). Bolstering this notion, are studies linking hyper-innervation of the dentate gyrus (DG) by GABAergic terminals to failure in LTP induction in the Ts65Dn mouse model of DS. Here, we used extensive morphometrical methods to assess the status of GABAergic interneurons in the DG of young and old Ts65Dn mice and their 2N controls. We detected an age-dependent increase in GABAergic innervation of dentate granule cells (DGCs) in Ts65Dn mice. The primary source of GABAergic terminals to DGCs somata is basket cells (BCs). For this reason, we assessed the status of these cells and found a significant increase in the number of BCs in Ts65Dn mice compared with controls. Then we aimed to identify the gene/s whose overexpression could be linked to increased number of BCs in Ts65Dn and found that deleting the third copy of App gene in Ts65Dn mice led to normalization of the number of BCs in these mice. Our data suggest that App overexpression plays a major role in the pathophysiology of GABAergic hyperinnervation of the DG in Ts65Dn mice. © 2016 Wiley Periodicals, Inc.

TÍTULO / TITLE:    - Maternal choline supplementation in a mouse model of Down syndrome: Effects on attention and nucleus basalis/substantia innominata neuron morphology in adult offspring.

REVISTA / JOURNAL:    - Neuroscience. 2016 Nov 10;340:501-514. doi: 10.1016/j.neuroscience.2016.11.001.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.neuroscience.2016.11.001

AUTORES / AUTHORS: - Powers BE; Kelley CM; Velazquez R; Ash JA; Alldred MJ; Ginsberg SD; Mufson EJ; Strupp BJ;

INSTITUCIÓN / INSTITUTION: - Division of Nutritional Sciences, Cornell University, Ithaca, NY 14853, USA.  

RESUMEN / SUMMARY: - The Ts65Dn mouse model of Down syndrome (DS) and Alzheimer’s disease (AD) exhibits cognitive impairment and degeneration of basal forebrain cholinergic neurons (BFCNs). Our prior studies demonstrated that maternal choline supplementation (MCS) improves attention and spatial cognition in Ts65Dn offspring, normalizes hippocampal neurogenesis, and lessens BFCN degeneration in the medial septal nucleus (MSN). Here we determined whether (i) BFCN degeneration contributes to attentional dysfunction, and (ii) whether the attentional benefits of perinatal MCS are due to changes in BFCN morphology. Ts65Dn dams were fed either a choline-supplemented or standard diet during pregnancy and lactation. Ts65Dn and disomic (2N) control offspring were tested as adults (12-17months of age) on a series of operant attention tasks, followed by morphometric assessment of BFCNs. Ts65Dn mice demonstrated impaired learning and attention relative to 2N mice, and MCS significantly improved these functions in both genotypes. We also found, for the first time, that the number of BFCNs in the nucleus basalis of Meynert/substantia innominata (NBM/SI) was significantly increased in Ts65Dn mice relative to controls. In contrast, the number of BFCNs in the MSN was significantly decreased. Another novel finding was that the volume of BFCNs in both basal forebrain regions was significantly larger in Ts65Dn mice. MCS did not normalize any of these morphological abnormalities in the NBM/SI or MSN. Finally, correlational analysis revealed that attentional performance was inversely associated with BFCN volume, and positively associated with BFCN density. These results support the lifelong attentional benefits of MCS for Ts65Dn and 2N offspring and have profound implications for translation to human DS and pathology attenuation in AD.

TÍTULO / TITLE:    - Chronic Melatonin Administration Reduced Oxidative Damage and Cellular Senescence in the Hippocampus of a Mouse Model of Down Syndrome.

REVISTA / JOURNAL:    - Neurochem Res. 2016 Nov;41(11):2904-2913. Epub 2016 Jul 23.

Enlace a la Editora de la Revista http://dx.doi.org/10.1007/s11064-016-2008-8

AUTORES / AUTHORS: - Parisotto EB; Vidal V; Garcia-Cerro S; Lantigua S; Wilhelm Filho D; Sanchez-Barcelo EJ; Martinez-Cue C; Rueda N;

INSTITUCIÓN / INSTITUTION: - Laboratory of Neurobiology of Learning, Department of Physiology and Pharmacology, Faculty of Medicine, School of Medicine, University of Cantabria, c/Cardenal Herrera Oria, s/n, 39011, Santander, España.   ruedan@unican.es

RESUMEN / SUMMARY: - Previous studies have demonstrated that melatonin administration improves spatial learning and memory and hippocampal long-term potentiation in the adult Ts65Dn (TS) mouse, a model of Down syndrome (DS). This functional benefit of melatonin was accompanied by protection from cholinergic neurodegeneration and the attenuation of several hippocampal neuromorphological alterations in TS mice. Because oxidative stress contributes to the progression of cognitive deficits and neurodegeneration in DS, this study evaluates the antioxidant effects of melatonin in the brains of TS mice. Melatonin was administered to TS and control mice from 6 to 12 months of age and its effects on the oxidative state and levels of cellular senescence were evaluated. Melatonin treatment induced antioxidant and antiaging effects in the hippocampus of adult TS mice. Although melatonin administration did not regulate the activities of the main antioxidant enzymes (superoxide dismutase, catalase, glutathione peroxidase, glutathione reductase, and glutathione S-transferase) in the cortex or hippocampus, melatonin decreased protein and lipid oxidative damage by reducing the thiobarbituric acid reactive substances (TBARS) and protein carbonyls (PC) levels in the TS hippocampus due to its ability to act as a free radical scavenger. Consistent with this reduction in oxidative stress, melatonin also decreased hippocampal senescence in TS animals by normalizing the density of senescence-associated beta-galactosidase positive cells in the hippocampus. These results showed that this treatment attenuated the oxidative damage and cellular senescence in the brain of TS mice and support the use of melatonin as a potential therapeutic agent for age-related cognitive deficits and neurodegeneration in adults with DS.

TÍTULO / TITLE:    - Combined Treatment With Environmental Enrichment and (-)-Epigallocatechin-3-Gallate Ameliorates Learning Deficits and Hippocampal Alterations in a Mouse Model of Down Syndrome.

REVISTA / JOURNAL:    - eNeuro. 2016 Nov 8;3(5). pii: ENEURO.0103-16.2016. eCollection 2016 Sep-Oct.

Enlace a la Editora de la Revista http://dx.doi.org/10.1523/ENEURO.0103-16.2016

AUTORES / AUTHORS: - Catuara-Solarz S Espinosa-Carrasco J Erb I Langohr K Gonzalez JR; Notredame C; Dierssen M

INSTITUCIÓN / INSTITUTION: - Universitat Pompeu Fabra (UPF), Barcelona, 08003, España; Comparative Bioinformatics, Bioinformatics, and Genomics Program, Barcelona Institute of Science and Technology, Centre for Genomic Regulation, Barcelona, 08003, España.  

RESUMEN / SUMMARY: - Intellectual disability in Down syndrome (DS) is accompanied by altered neuro-architecture, deficient synaptic plasticity, and excitation-inhibition imbalance in critical brain regions for learning and memory. Recently, we have demonstrated beneficial effects of a combined treatment with green tea extract containing (-)-epigallocatechin-3-gallate (EGCG) and cognitive stimulation in young adult DS individuals. Although we could reproduce the cognitive-enhancing effects in mouse models, the underlying mechanisms of these beneficial effects are unknown. Here, we explored the effects of a combined therapy with environmental enrichment (EE) and EGCG in the Ts65Dn mouse model of DS at young age. Our results show that combined EE-EGCG treatment improved corticohippocampal-dependent learning and memory. Cognitive improvements were accompanied by a rescue of cornu ammonis 1 (CA1) dendritic spine density and a normalization of the proportion of excitatory and inhibitory synaptic markers in CA1 and dentate gyrus.

TÍTULO / TITLE:    - VNTR-DAT1 and COMTVal158Met Genotypes Modulate Mental Flexibility and Adaptive Behavior Skills in Down Syndrome.

REVISTA / JOURNAL:    - Front Behav Neurosci. 2016 Oct 17;10:193. eCollection 2016.

Enlace a la Editora de la Revista http://dx.doi.org/10.3389/fnbeh.2016.00193

AUTORES / AUTHORS: - Del Hoyo L; Xicota L; Langohr K; Sanchez-Benavides G; de Sola S; Cuenca-Royo A; Rodriguez J; Farre M; Dierssen M; de la Torre R

INSTITUCIÓN / INSTITUTION: - Integrative Pharmacology and Systems Neuroscience Group, Neurosciences Research Program, IMIM-Hospital del Mar Medical Research InstituteBarcelona, España; Departament de Farmacologia, de Terapeutica i de Toxicologia, Universidad Autonoma d  

RESUMEN / SUMMARY: - Down syndrome (DS) is an aneuploidy syndrome that is caused by trisomy for human chromosome 21 resulting in a characteristic cognitive and behavioral phenotype, which includes executive functioning and adaptive behavior difficulties possibly due to prefrontal cortex (PFC) deficits. DS also present a high risk for early onset of Alzheimer Disease-like dementia. The dopamine (DA) system plays a neuromodulatory role in the activity of the PFC. Several studies have implicated trait differences in DA signaling on executive functioning based on genetic polymorphisms in the genes encoding for the catechol-O-methyltransferase (COMTVal158Met) and the dopamine transporter (VNTR-DAT1). Since it is known that the phenotypic consequences of genetic variants are modulated by the genetic background in which they occur, we here explore whether these polymorphisms variants interact with the trisomic genetic background to influence gene expression, and how this in turn mediates DS phenotype variability regarding PFC cognition. We genotyped 69 young adults of both genders with DS, and found that VNTR-DAT1 was in Hardy-Weinberg equilibrium but COMTVal158Met had a reduced frequency of Met allele homozygotes. In our population, genotypes conferring higher DA availability, such as Met allele carriers and VNTR-DAT1 10-repeat allele homozygotes, resulted in improved performance in executive function tasks that require mental flexibility. Met allele carriers showed worse adaptive social skills and self-direction, and increased scores in the social subscale of the Dementia Questionnaire for People with Intellectual Disabilities than Val allele homozygotes. The VNTR-DAT1 was not involved in adaptive behavior or early dementia symptoms. Our results suggest that genetic variants of COMTVal158Met and VNTR-DAT1 may contribute to PFC-dependent cognition, while only COMTVal158Met is involved in behavioral phenotypes of DS, similar to euploid population.

TÍTULO / TITLE:    - Self-Reported Presence and Experience of Pain in Adults with Down Syndrome.

REVISTA / JOURNAL:    - Pain Med. 2016 Oct 2. pii: pnw226.

Enlace a la Editora de la Revista http://dx.doi.org/10.1093/pm/pnw226

AUTORES / AUTHORS: - de Knegt NC; Lobbezoo F; Schuengel C; Evenhuis HM; Scherder EJ;

INSTITUCIÓN / INSTITUTION: - Department of Clinical Neuropsychology, VU University, Amsterdam, the Netherlands   nc.de.knegt@vu.nl

RESUMEN / SUMMARY: - OBJECTIVE: The aim was to examine whether the presence of pain (based on physical conditions and participants’ report) and self-reported pain experience in adults with Down syndrome (DS) differ from general population controls. DESIGN: Cross-sectional study of 224 adults with DS (mean age = 38.1 years, mild-severe intellectual disabilities) and 142 age-matched controls (median age = 40.5 years, mean estimated IQ = 105.7) in the Netherlands. METHODS: File-based medical information was evaluated. Self-reported presence and experience of pain were assessed in rest and after movement during a test session (affect with facial affective scale (FAS: 0.04-0.97), intensity assessed with numeric rating scale (NRS: 0-10). RESULTS: Compared with controls, more DS participants had physical conditions that may cause pain and/or discomfort (p = .004, 50% vs 35%), but fewer DS participants reported pain during the test session (p = .003, 58% vs 73%). Of the participants who indicated pain and comprehended self-reporting scales (n = 198 FAS, n = 161 NRS), the DS group reported a higher pain affect and intensity than the controls (p < .001, FAS: 0.75-0.85 vs 0.50-0.59, NRS: 6.00-7.94 vs 2.00-3.73). CONCLUSIONS: Not all adults with DS and painful/discomforting physical conditions reported pain. Those who did indicated a higher pain experience than adults from the general population. Research into spontaneous self-report of pain, repeated pain assessment, and acute pain is needed in people with DS for more insight into pain experience and mismatches between self-report and medical information.

NEUROLOGY - NEUROLOGÍA

TÍTULO / TITLE:    - A small pons as a characteristic finding in Down syndrome: A quantitative MRI study.

REVISTA / JOURNAL:    - Brain Dev. 2016 Nov 16. pii: S0387-7604(16)30185-1. doi: 10.1016/j.braindev.2016.10.016.

Enlace a la Editora de la Revista Brain Dev. 2016 Nov 16. pii: S0387-7604(16)30185-1. doi: 10.1016/j.braindev.2016.10.016.

AUTORES / AUTHORS: - Fujii Y; Aida N; Niwa T; Enokizono M; Nozawa K; Inoue T

INSTITUCIÓN / INSTITUTION: - Department of Radiology, Kanagawa Children’s Medical Center, Yokohama, Japan.   yfujii@kcmc.jp

RESUMEN / SUMMARY: - BACKGROUND: Down syndrome (DS) is the most common chromosomal aberration, but the characteristics of the brainstem component in this condition during childhood (from newborn to preteen stages) have not been clarified. OBJECTIVE: To evaluate the morphological features of the brainstem in DS on magnetic resonance imaging (MRI). MATERIALS AND METHODS: MRIs for 32 children with DS (16 boys and girls each; age range, 0-11years) without major brain insults, and 32 age-matched controls (16 boys and girls each) were retrospectively analyzed. Height, width, and area of the midbrain, pons, and medulla oblongata were measured on sagittal T1-weighted images; these were compared in children with DS and age-matched controls. The ratios of the brainstem to the size of the posterior fossa (BS/PF index) were calculated; these were also compared in the children with DS and the control group. RESULTS: The width and area of the midbrain; height, width, area of the pons; and area of the medulla oblongata were significantly smaller in children with DS than in control children (P<0.05); the area of the pons, particularly for the ventral part, showed the largest differences in the mean relative differences. The BS/PF indices of the height, width, and area of the pons were significantly smaller in children with DS than in the control group (P<0.01). However, the BS/PF indices for the midbrain and the medulla oblongata did not differ between these two groups. CONCLUSIONS: Children with DS may have small brainstems, particularly in the pons; this may be a characteristic morphological feature of the brainstem on MRI in childhood including neonates.

TÍTULO / TITLE:    - Structural brain alterations of Down’s syndrome in early childhood evaluation by DTI and volumetric analyses.

REVISTA / JOURNAL:    - Eur Radiol. 2016 Oct 31.b

Enlace a la Editora de la Revista http://dx.doi.org/10.1007/s00330-016-4626-6

AUTORES / AUTHORS: - Gunbey HP; Bilgici MC; Aslan K; Has AC; Ogur MG; Alhan A; Incesu L

INSTITUCIÓN / INSTITUTION: - Faculty of Medicine, Department of Radiology, Ondokuz Mayis University, Neuroradiology Section, 55139, Kurupelit, Samsun, Turkey.   hpgunbey@hotmail.com

RESUMEN / SUMMARY: - OBJECTIVES: To provide an initial assessment of white matter (WM) integrity with diffusion tensor imaging (DTI) and the accompanying volumetric changes in WM and grey matter (GM) through volumetric analyses of young children with Down’s syndrome (DS). METHODS: Ten children with DS and eight healthy control subjects were included in the study. Tract-based spatial statistics (TBSS) were used in the DTI study for whole-brain voxelwise analysis of fractional anisotropy (FA) and mean diffusivity (MD) of WM. Volumetric analyses were performed with an automated segmentation method to obtain regional measurements of cortical volumes. RESULTS: Children with DS showed significantly reduced FA in association tracts of the fronto-temporo-occipital regions as well as the corpus callosum (CC) and anterior limb of the internal capsule (p < 0.05). Volumetric reductions included total cortical GM, cerebellar GM and WM volume, basal ganglia, thalamus, brainstem and CC in DS compared with controls (p < 0.05). CONCLUSION: These preliminary results suggest that DTI and volumetric analyses may reflect the earliest complementary changes of the neurodevelopmental delay in children with DS and can serve as surrogate biomarkers of the specific elements of WM and GM integrity for cognitive development. KEY POINTS: * DS is the most common genetic cause of intellectual disability. * WM and GM structural alterations represent the neurological features of DS. * DTI may identify the earliest aging process changes. * DTI-volumetric analyses can serve as surrogate biomarkers of neurodevelopment in DS.

OPHTALMOLOGY - OFTALMOLOGÍA

TÍTULO / TITLE:    - Simulated Keratometry Repeatability in Subjects with and without Down Syndrome.

REVISTA / JOURNAL:    - Optom Vis Sci. 2016 Nov;93(11):1356-1363.

Enlace a la Editora de la Revista http://dx.doi.org/10.1097/OPX.0000000000000987

AUTORES / AUTHORS: - Ravikumar A; Marsack JD Benoit JS Anderson HA

INSTITUCIÓN / INSTITUTION: - *PhD daggerPhD, FAAO double daggerOD, PhD, FAAO College of Optometry (AR, JDM, JSB, HAA) and Texas Institute for Measurement, Evaluation and Statistics (JSB), University of Houston, Houston, Texas.  

RESUMEN / SUMMARY: - PURPOSE: To assess the repeatability of simulated keratometry measures obtained with Zeiss Atlas topography for subjects with and without Down syndrome (DS). METHODS: Corneal topography was attempted on 140 subjects with DS and 138 controls (aged 7-59 years). Subjects who had at least three measures in each eye were included in analysis (DS: n = 140 eyes (70 subjects) and controls: n = 264 eyes (132 subjects)). For each measurement, the steep corneal power (K), corneal astigmatism, flat K orientation, power vector representation of astigmatism (J0, J45), and astigmatic dioptric difference were determined for each measurement (collectively termed keratometry values here). For flat K orientation comparisons, only eyes with >0.50 DC of astigmatism were included (DS: n = 131 eyes (68 subjects) and control: n = 217 eyes (119 subjects)). Repeatability was assessed using (1) group mean variability (average standard deviation (SD) across subjects), (2) coefficient of repeatability (COR), (3) coefficient of variation (COV), and (4) intraclass correlation coefficient (ICC). RESULTS: The keratometry values showed good repeatability as evidenced by low group mean variability for DS versus control eyes ( TÍTULO / TITLE:    - Secretion of Down Syndrome Critical Region 1 Isoform 4 in Ischemic Retinal Ganglion Cells Displays Anti-Angiogenic Properties Via NFATc1-Dependent Pathway.

REVISTA / JOURNAL:    - Mol Neurobiol. 2016 Oct 12.

Enlace a la Editora de la Revista http://dx.doi.org/10.1007/s12035-016-0092-z

AUTORES / AUTHORS: - Xu Y; Yang B; Hu Y; Lu L; Lu X; Wang J; Shu Q; Cheng Q; Yu S; Xu F; Huang J; Liang X;

INSTITUCIÓN / INSTITUTION: - State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, 510000, Guangdong Province, People’s Republic of China.   hjjing@mail.sysu.edu.cn

RESUMEN / SUMMARY: - Down syndrome candidate region 1 (DSCR1) has two differentially regulated isoforms (DSCR1-1 and DSCR1-4) and is reported to play a role in a number of physiological processes, such as the inhibition of cardiac hypertrophy, attenuation of angiogenesis and carcinogenesis, and protection against neuronal death. However, the function of DSCR1 in the retina is still not clear. Therefore, we analyzed the expression and location of DSCR1 in the retina of neonatal mice with oxygen-induced retinopathy (OIR), and studied its effects on angiogenesis. The neonatal C57BL/6J mice were exposed to 75 % O2 for 5 days from postnatal day 7 (P7) to P12. At P12, the mice were returned to 21 % O2 at room air. The primary retinal ganglion cells (RGCs) were exposed to hypoxia (93 % N2, 5 % CO2, and 2 % O2) at 37 degrees C for 36 h. And then the mouse retinal microvascular endothelial cells (mRMECs) were treated with 25 ng/mL vascular endothelial growth factor (VEGF) or culture medium conditioned by hypoxic RGCs alone, hypoxic RGCs treated with DSCR1-4-siRNA (siDSCR1-4) or hypoxic RGCs treated with siDSCR1-4 and 200 ng/mL cyclosporin A (CsA), and then primed with VEGF (25 ng/mL). The expression of DSCR1-4 increased strongly at P16 after OIR. There was no change in messenger RNA (mRNA) expression of DSCR1-1 at P16 after OIR. The increased DSCR1 was mainly located in the RGCs of avascular retina. In addition, DSCR1-4 expression was increased in primary RGCs after hypoxia exposure. There was no change in mRNA expression of DSCR1-1 in primary RGCs after hypoxia exposure. Moreover, DSCR1-4 produced by hypoxic RGCs showed anti-angiogenic properties, with decreased cell proliferation, migration, tube formation, and inflammatory cytokines production. These properties were due to inhibited nuclear factor of activated T cell (NFATc) 1 dephosphorylation and translocation into nuclear in VEGF-treated mRMECs. Using siRNA-mediated knockdown of DSCR1-4 and NFATc1 inhibitor (Cs A) further demonstrated the

ORTHOPEDICS - ORTOPEDÍA

TÍTULO / TITLE:    - A podoscopic and descriptive study of foot deformities in patients with Down syndrome.

REVISTA / JOURNAL:    - Orthop Traumatol Surg Res. 2016 Nov 25. pii: S1877-0568(16)30181-5. doi: 10.1016/j.otsr.2016.10.001.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.otsr.2016.10.001

AUTORES / AUTHORS: - Mansour E; Yaacoub JJ; Bakouny Z; Assi A; Ghanem I

INSTITUCIÓN / INSTITUTION: - Laboratory of Biomechanics and Medical Imaging, Faculty of Medicine, University of Saint-Joseph, Beirut, Lebanon.   ayman.assi@gmail.com

RESUMEN / SUMMARY: - Subjects with Down syndrome (DS) are known to be affected by various foot deformities. Despite the fact that some of these deformities have been reported in the literature, a more comprehensive description would be of benefit. The aim of this study is to investigate the prevalence of known foot deformities in patients with DS and of other previously non-described foot anomalies in this population. HYPOTHESIS: Subjects with DS have an increased prevalence of foot deformities compared to control subjects. METHODS: Fifty-five subjects with DS (age: 14.6+/-7.4 years) had undergone podiatric clinical and podoscopic examinations to study their main foot deformities and their footprints, respectively. The results of these examinations were compared to those of an age-matched asymptomatic control group of fifty-three subjects (age: 13.4+/-11.2 years). RESULTS: Significantly more prevalent foot deformities were found in the DS group: hallux valgus (36.4%), syndactyly between the 2nd and 3rd toes (9.1%), grade II pes planus (39.1%) and grade III pes planus (30%). Moreover, joint laxity (43.6%) was significantly more prevalent in the DS group. Furthermore, the presence of an increased space between the 1st and 2nd toes in patients with DS and its prevalence (73.6%) were described for the first time. A multivariate analysis revealed a significant relationship between the presence of joint laxity and flatfoot in only the control but not the DS group. Other foot deformities were found to be consistently more frequent in the DS population but not significantly higher than the control group. DISCUSSION: Although subjects with DS had significantly greater joint laxity and BMI compared to the control group, neither of these factors was found to be related to the increased prevalence of flatfoot in DS patients. LEVEL OF EVIDENCE: IV-retrospective study.

PHYSIOTHERAPY - FISIOTERAPIA

TÍTULO / TITLE:    - Accuracy of the prediction equation for the determination of maximum heart rate in adults with Down syndrome.

REVISTA / JOURNAL:    - J Intellect Disabil Res. 2016 Nov 14. doi: 10.1111/jir.12345.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/jir.12345

AUTORES / AUTHORS: - Boer PH;

INSTITUCIÓN / INSTITUTION: - Physical Activity Sport and Recreation (PHASREC), Faculty of Health Sciences, North West University, Potchefstroom, South Africa.  

RESUMEN / SUMMARY: - BACKGROUND: The purpose of the study was to determine if the regression formula developed for the prediction of maximum heart rate (HR) is valid for adults with Down syndrome (DS). METHODS: Thirty-six adults with DS (31.7 +/- 6.8 years; 20 men, 16 women) completed a maximal aerobic test. Maximum HR and VO2 peak were measured directly on a motorised treadmill with a metabolic analyser. Predicted HR was estimated with the regression equation developed for individuals with DS (Fernhall et al. 2001). Differences between measured versus predicted maximum HR were assessed with a dependent T-test and the relationship with Pearson correlational analyses. Agreement was assessed with Bland-Altman analysis. RESULTS: There was a significant difference between directly measured maximum HR and predicted maximum HR (P < 0.01). There was no significant relationship between these variables. Bland-Altman analysis indicated that there was measurement bias (+4.7) and large limits of agreement (+26.7 and -17.4) between measured and predicted maximum HR. The Bland-Altman plot also demonstrated the presence of heteroscedasticity. CONCLUSIONS: The results indicate that the regression formula developed for individuals with DS was not accurate in this sample of DS adults aged 19 to 46 years. Future studies should develop different prediction equations for more specific age and body mass index categories for individuals with DS.

TÍTULO / TITLE:    - Relationships between Muscle Architecture of Rectus Femoris and Functional Parameters of Knee Motion in Adults with Down Syndrome.

REVISTA / JOURNAL:    - Biomed Res Int. 2016;2016:7546179. Epub 2016 Nov 8.

Enlace a la Editora de la Revista http://dx.doi.org/10.1155/2016/7546179

AUTORES / AUTHORS: - Valle MS Casabona A Micale M; Cioni M

INSTITUCIÓN / INSTITUTION: - Gait and Posture Motion Analysis Laboratory, Department of Biomedical and Biotechnological Sciences, University of Catania, 95125 Catania, Italy; Physical Medicine and Rehabilitation Residency Program, Department of Biomedical and Biotechno  

RESUMEN / SUMMARY: - This study was designed to measure in vivo muscle architecture of the rectus femoris in adults with Down syndrome, testing possible relationships with functional parameters of the knee motion. Ten adults with Down syndrome and ten typically developed participated in the study. Pennation angle and thickness of the rectus femoris and subcutaneous layer of the thigh were measured via ultrasound imaging. Knee kinematics and electromyographic activity of the rectus femoris were recorded during free leg dropping. Muscle thickness was reduced and subcutaneous layer was thicker in persons with Down syndrome with respect to typically developed adults, but there were no differences in the pennation angle. The area of the rectus femoris EMG activity during the leg flexion was greater in Down syndrome with respect to typically developed adults. The leg movement velocity was lower in Down people than in controls, but the knee excursion was similar between the groups. Functional parameters correlated with pennation angle in the persons with Down syndrome and with muscle thickness in typically developed persons. The description of muscle architecture and the relationships between morphological and functional parameters may provide insights on the limits and the opportunities to overcome the inherent biomechanical instability in Down syndrome.

TÍTULO / TITLE:    - Are Gait Stereotypies a Marker for Neurodegeneration in Down Syndrome? A Prospective Observation.

REVISTA / JOURNAL:    - Tremor Other Hyperkinet Mov (N Y). 2016 Sep 13;6:403. eCollection 2016.

Enlace a la Editora de la Revista http://dx.doi.org/10.7916/D85D8S1Q

AUTORES / AUTHORS: - Pedroso JL; Vale TC; Barsottini OG

INSTITUCIÓN / INSTITUTION: - Department of Neurology, Division of General Neurology and Ataxia Unit, Universidade Federal de Sao Paulo, Sao Paulo, Brazil.  

RESUMEN / SUMMARY: -

PRENATAL DIAGNOSIS - DIAGNÓSTICO

TÍTULO / TITLE:    - Screening for trisomies 21 and 18 in a Spanish public hospital: from the combined test to the cell-free DNA test.

REVISTA / JOURNAL:    - J Matern Fetal Neonatal Med. 2016 Nov 22:1-7.

Enlace a la Editora de la Revista http://dx.doi.org/10.1080/14767058.2016.1253062

AUTORES / AUTHORS: - Gil MM; Brik M; Casanova C; Martin-Alonso R; Verdejo M; Ramirez E; Santacruz B;

INSTITUCIÓN / INSTITUTION: - Department of Obstetrics and Gynecology , Torrejon University Hospital , Torrejon de Ardoz , Madrid , España.  

RESUMEN / SUMMARY: - OBJECTIVE: To describe our experience in first-trimester screening for trisomies 21 and 18 firstly by the combined test alone and secondly by cell-free (cf) DNA testing contingent on the results from a previously performed combined test. METHODS: Women with singleton pregnancies attending Torrejón University Hospital in Madrid, España, from November 2011 to January 2016, were screened for trisomy (T)21 and T18 by the combined test at 11-13 weeks. Before the introduction of cfDNA testing, women at high risk (>1 in 250) were offered invasive testing (IT) and from January 2015 they were offered cfDNA test as well as IT. RESULTS: Combined test was performed in 6011 pregnancies. The risk was high in 202 (3.4%) cases. There was complete follow-up for 5507 (91.6%) pregnancies. Detection rate (DR) for T21 was 83.3% (15/18) and 100% (4/4) for T18. Additionally, 2/2 (100%) cases of T13 and 2/2 (100%) cases of triploidy were also detected. False positive rate (FPR) was 3.2% (174/5488). The introduction of this contingent model was followed by a 73% reduction on the IT rate in the high-risk group, from 76.3% to 20.8%. CONCLUSION: Contingent screening for trisomies 21 and 18 by cfDNA testing at 11-13 weeks is feasible and has a lower IT rate than combined testing alone.

TÍTULO / TITLE:    - Down’s screening: the right to informed choice.

REVISTA / JOURNAL:    - Nurs Stand. 2016 Oct 12;31(7):27.

Enlace a la Editora de la Revista http://dx.doi.org/10.7748/ns.31.7.27.s24

AUTORES / AUTHORS: - Fisher J;

INSTITUCIÓN / INSTITUTION: - Charity that provides non-directive information and support to women and couples on antenatal screening and its consequences.  

RESUMEN / SUMMARY: - Antenatal screening for Down’s syndrome, and particularly the potential NHS implementation of the more sensitive cell-free DNA screening known as NIPT (non-invasive prenatal testing), has had intense media coverage recently, prompted by the BBC2 documentary A World Without Down’s Syndrome.

TÍTULO / TITLE:    - Role of Psychosocial Factors and Health Literacy in Pregnant Women’s Intention to Use a Decision Aid for Down Syndrome Screening: A Theory-Based Web Survey.

REVISTA / JOURNAL:    - J Med Internet Res. 2016 Oct 28;18(10):e283.

Enlace a la Editora de la Revista http://dx.doi.org/10.2196/jmir.6362

AUTORES / AUTHORS: - Delanoe A Lepine J Turcotte S Leiva Portocarrero ME Robitaille H Giguere AM Wilson BJ Witteman HO Levesque I Guillaumie L Legare F

INSTITUCIÓN / INSTITUTION: - Populations Health and Optimal Health Practices Research Group, CHU de Québec-Université Laval, Hôpital St-François d’Assise, D6-737, 10 rue Espinay, Quebec City, QC, G1L 3L5, Canada,   ac.lavalu.afm@erageL.ecnarF

RESUMEN / SUMMARY: - BACKGROUND: Deciding about undergoing prenatal screening is difficult, as it entails risks, potential loss and regrets, and challenges to personal values. Shared decision making and decision aids (DAs) can help pregnant women give informed and values-based consent or refusal to prenatal screening, but little is known about factors influencing the use of DAs. OBJECTIVE: The objective of this study was to identify the influence of psychosocial factors on pregnant women’s intention to use a DA for prenatal screening for Down syndrome (DS). We also added health literacy variables to explore their influence on pregnant women’s intention. METHODS: We conducted a survey of pregnant women in the province of Quebec (Canada) using a Web panel. Eligibility criteria included age >18 years, >16 weeks pregnant, low-risk pregnancy, and having decided about prenatal screening for the current pregnancy. We collected data based on an extended version of the Theory of Planned Behavior assessing 7 psychosocial constructs (intention, attitude, anticipated regret, subjective norm, descriptive norm, moral norm, and perceived control), 3 related sets of beliefs (behavioral, normative, and control beliefs), 4 health literacy variables, and sociodemographics. Eligible women watched a video depicting the behavior of interest before completing a Web-based questionnaire. We performed descriptive, bivariate, and ordinal logistic regression analyses. RESULTS: Of the 383 eligible pregnant women who agreed to participate, 350 pregnant women completed the Web-based questionnaire and 346 were retained for analysis (completion rate 350/383, 91.4%; mean age 30.1, SD 4.3, years). In order of importance, factors influencing intention to use a DA for prenatal screening for DS were attitude (odds ratio, OR, 9.16, 95% CI 4.02-20.85), moral norm (OR 7.97, 95% CI 4.49-14.14), descriptive norm (OR 2.83, 95% CI 1.63-4.92), and anticipated regret (OR 2.43, 95% CI 1.71-3.46). Specific attitudinal beliefs signific

TÍTULO / TITLE:    - Analysis of cell-free fetal DNA in maternal blood for detection of trisomy 21, 18 and 13 in a general pregnant population and in a high risk population - a systematic review and meta-analysis.

REVISTA / JOURNAL:    - Acta Obstet Gynecol Scand. 2016 Oct 25. doi: 10.1111/aogs.13047.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/aogs.13047

AUTORES / AUTHORS: - Iwarsson E; Jacobsson B; Dagerhamn J; Davidson T; Bernabe E; Heibert Arnlind M

INSTITUCIÓN / INSTITUTION: - Department of Molecular Medicine and Surgery, Clinical Genetics Unit, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden.  

RESUMEN / SUMMARY: - INTRODUCTION: To review the performance of non-invasive prenatal testing (NIPT) for detection of trisomy 21, 18 and 13 (T21, T18 and T13) in a general pregnant population as well as to update the data on high-risk pregnancies. MATERIAL AND METHODS: Systematic review and meta-analysis. PubMed, Embase and the Cochrane Library were searched. Methodological quality was rated using QUADAS and scientific evidence using GRADE. Summary measures of diagnostic accuracy were calculated using a bivariate random-effects model. RESULTS: In a general pregnant population, there is moderate evidence that the pooled sensitivity is 0.993 (95% CI 0.955-0.999) and specificity was 0.999 (95% CI 0.998-0.999) for the analysis of T21. Pooled sensitivity and specificity for T13 and T18 was not calculated in this population due to the low number of studies. In a high-risk pregnant population, there is moderate evidence that the pooled sensitivities for T21 and T18 are 0.998 (95% CI 0.981-0.999) and 0.977 (95% CI 0.958-0.987) respectively, and low evidence that the pooled sensitivity for T13 is 0.975 (95% CI 0.819-0.997). The pooled specificity for all three trisomies is 0.999 (95% CI 0.998-0.999). CONCLUSIONS: This is the first meta-analysis using GRADE that shows that NIPT performs well as a screen for trisomy 21 in a general pregnant population. Although the false positive rate is low compared with first trimester combined screening, women should still be advised to confirm a positive result by invasive testing if termination of pregnancy is under consideration.

TÍTULO / TITLE:    - Placental disease and abnormal umbilical artery Doppler waveforms in trisomy 21 pregnancy: A case-control study.

REVISTA / JOURNAL:    - Placenta. 2016 Nov;47:24-28. doi: 10.1016/j.placenta.2016.09.001. Epub 2016 Sep 3.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.placenta.2016.09.001

AUTORES / AUTHORS: - Corry E; Mone F; Segurado R; Downey P; McParland P; McAuliffe FM; Mooney EE

INSTITUCIÓN / INSTITUTION: - Department of Obstetrics and Gynaecology, National Maternity Hospital, Dublin, Ireland.   corry@tcd.ie

RESUMEN / SUMMARY: - INTRODUCTION: The objectives of this study were firstly to determine the proportion of placental pathology in fetuses affected by trisomy 21 (T21) using current pathological descriptive terminology and secondly to examine if a correlation existed between the finding of an abnormal umbilical artery Doppler (UAD) waveform, the presence of T21 and defined placental pathological categories. METHODS: This case-control study assessed singleton fetuses with karyotypically confirmed trisomy 21 where placental histopathology had been conducted from 2003 to 2015 inclusive, within a university tertiary obstetric centre. This was compared with unselected normal singleton control pregnancies matched within a week of gestation at delivery. Data included birthweight centiles and placental histopathology. Comparisons of Doppler findings across placental pathological categories were performed using statistical analysis. RESULTS: 104 cases were analysed; 52 cases of trisomy 21 and 52 controls. Fetal vascular malperfusion (48.1% vs. 5.8%, p = 0.001) and maturation defects (39.2% vs. 15.7%, p = 0.023) were more common in trisomy 21 placentas. Compared with controls, trisomy 21 fetuses were more likely to have shorter umbilical cords (p = 0.001) and had more UAD abnormalities. Amongst T21 pregnancies, umbilical artery Doppler abnormalities are associated with the presence of maternal vascular malperfusion. DISCUSSION: Fetal vascular malperfusion and maturation defects are more common in trisomy 21 placentas. Abnormal umbilical artery Doppler waveforms are more common in T21 and are associated with maternal vascular malperfusion. Placental disease may explain the increased rate of intrauterine death in T21.

TÍTULO / TITLE:    - Observed Rate of Down Syndrome in Twin Pregnancies.

REVISTA / JOURNAL:    - Obstet Gynecol. 2016 Nov;128(5):1127-1133.

Enlace a la Editora de la Revista http://dx.doi.org/10.1097/AOG.0000000000001690

AUTORES / AUTHORS: - Sparks TN; Norton ME Flessel M Goldman S Currier RJ

INSTITUCIÓN / INSTITUTION: - Division of Maternal-Fetal Medicine, Department of Obstetrics, Gynecology, and Reproductive Sciences, and the Division of Medical Genetics, Department of Pediatrics, University of California, San Francisco, San Francisco, and the Genetic Di  

RESUMEN / SUMMARY: - OBJECTIVE: To evaluate the observed incidence of Down syndrome in twins compared with that expected based on maternal age-matched singletons, which is the current clinical approach. METHODS: This was a retrospective review of California Prenatal Screening Program participants with expected delivery dates between July 1995 and December 2012. Cases confirmed prenatally or postnatally with a genetic imbalance leading to phenotypic Down syndrome (trisomy 21, mosaic trisomy 21, or translocations) were included. Pregnancies conceived with ovum donation and women older than 45 years were excluded. We compared the observed Down syndrome incidence per pregnancy for twins with expected incidence by extrapolating from singleton data and expected zygosity as is the current clinical approach. This extrapolation assumes that monozygotic pregnancies have equivalent Down syndrome risk per pregnancy relative to maternal age-matched singletons and dizygotic pregnancies have twice the risk of at least one affected fetus. Zygosity for affected cases was presumed to be monozygotic with Down syndrome concordance and dizygotic with Down syndrome discordance. Counts were compared using cumulative Poisson distributions. RESULTS: Of 77,279 twin pregnancies, 182 (0.2%) had at least one fetus with Down syndrome confirmed by karyotype. The ratio of observed-to-expected Down syndrome incidence per pregnancy was 33.6%, 75.2%, and 70.0% for monozygotic, dizygotic, and all twins, respectively (P<.001 for all comparisons). Considering maternal age subgroups and twin zygosity, a significantly lower-than-expected Down syndrome incidence was seen for women aged 25 to 45 years with monozygotic pregnancies and overall for women aged 25 to 45 years with dizygotic pregnancies. CONCLUSION: The observed incidence of Down syndrome in twin pregnancies is lower than expected, most notably for monozygotic pregnancies and with increasing maternal age. Risk-based counseling can strongly affect women’s choices rega

TÍTULO / TITLE:    - Normal Range of Fetal Nasal Bone Length during the Second Trimester in an Afro-Caribbean Population and Likelihood Ratio for Trisomy 21 of Absent or Hypoplastic Nasal Bone.

REVISTA / JOURNAL:    - Fetal Diagn Ther. 2016 Oct 21.

Enlace a la Editora de la Revista http://dx.doi.org/10.1159/000450996

AUTORES / AUTHORS: - Gautier M; Gueneret M Plavonil C Jolivet E Schaub B

INSTITUCIÓN / INSTITUTION: - Multidisciplinary Center of Prenatal Diagnosis of Martinique, House of Woman, Mother and Child, University Hospital of Martinique, Fort de France, France.  

RESUMEN / SUMMARY: - OBJECTIVE: To establish the normal reference range of fetal nasal bone length (NBL) during the second trimester in an Afro-Caribbean population and the likelihood ratio (LR) for fetal trisomy 21. METHODS: Prenatal records of euploid, non-malformed singleton fetuses who underwent second-trimester ultrasonographic scans at 20-24 weeks of gestation were retrospectively analyzed for NBL and gestational age (GA). Only Afro-Caribbean couples were selected. The relationship between fetal NBL and GA was determined. The data of all fetuses with Down syndrome were provided by the French West Indies Register of Congenital Malformations (REMALAN). RESULTS: There was a significant linear association between fetal NBL and GA (R2 = 0. 354). The 50th percentile for NBL increased from 5.0 to 7.0 mm from week 20 to 24 of gestation. The nasal bone (NB) was absent or hypoplastic in 8.6% of the euploid fetuses and in 69.2% of the trisomy 21 fetuses. The LR for trisomy 21 of absent or hypoplastic NB in an Afro-Caribbean population was 8.02, but only 2.32 when this sign was isolated. CONCLUSION: The reference range for fetal NBL at 20-24 weeks of gestation in an Afro-Caribbean population and the LR for trisomy 21 of absent or hypoplastic NB differed from the other populations.

TÍTULO / TITLE:    - Prenatal diagnosis of trisomy 21, 18 and 13 by quantitative pyrosequencing of segmental duplications.

REVISTA / JOURNAL:    - Clin Genet. 2016 Nov;90(5):451-455. doi: 10.1111/cge.12772. Epub 2016 Apr 8.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/cge.12772

AUTORES / AUTHORS: - Tong H; Jin Y; Xu Y; Zou B; Ye H; Wu H; Kumar S; Pitman JL; Zhou G; Song Q

INSTITUCIÓN / INSTITUTION: - Key Laboratory of Drug Quality Control and Pharmacovigilance of Ministry of Education, China Pharmaceutical University, Nanjing, China.   ghzhou@nju.edu.cn

RESUMEN / SUMMARY: - Chromosomal aberration mostly occurs in chromosomes 21, 18 and 13, with an incidence approximately 1 out of 160 live births in humans, therefore making prenatal diagnosis necessary in clinics. Current methods have drawbacks such as time consuming, high cost, complicated operations and low sensitivity. In this paper, a novel method for rapid and accurate prenatal diagnosis of aneuploidy is proposed based on pyrosequencing, which quantitatively detects the peak height ratio (PHR) of different bases of segmental duplication. A direct polymerase chain reaction (PCR) approach was undertaken, where a small volume of amniotic fluid was used as the starting material without DNA extraction. Single-stranded DNA was prepared from PCR products and subsequently analyzed using pyrosequencing. The PHR between target and reference chromosome of 2.2 for euploid and 3:2 for a trisomy fetus were used as reference. The reference intervals and z scores were calculated for discrimination of aneuploidy. A total of 132 samples were collected, within trisomy 21 (n = 11), trisomy 18 (n = 3), trisomy 13 (n = 2), and unaffected controls (n = 116). A set of six segmental duplications were chosen for analysis. This method had consistent results with karyotyping analysis, a correct diagnosis with 100% sensitivity and 99.9% specificity.

TÍTULO / TITLE:    - Impact of Including or Removing Nuchal Translucency Measurement on the Detection and False-Positive Rates of First-Trimester Down Syndrome Screening.

REVISTA / JOURNAL:    - Fetal Diagn Ther. 2016;40(3):214-218. Epub 2015 Dec 12.

Enlace a la Editora de la Revista http://dx.doi.org/10.1159/000442198

AUTORES / AUTHORS: - Spaggiari E; Czerkiewicz I Sault C Dreux S Galland A Salomon LJ Ville Y Muller F

INSTITUCIÓN / INSTITUTION: - Department of Obstetrics and Maternal Fetal Medicine, Necker-Enfants Malades Hospital, AP-HP, Paris, France.  

RESUMEN / SUMMARY: - INTRODUCTION: First-trimester Down syndrome (DS) screening combining maternal age, serum markers (pregnancy-associated plasma protein-A and beta-human chorionic gonadotropin) and nuchal translucency (NT) gives an 85% detection rate for a 5% false-positive rate. These results largely depend on quality assessment of biochemical markers and of NT. In routine practice, despite an ultrasound quality control organization, NT images can be considered inadequate. The aim of the study was to evaluate the consequences for risk calculation when NT measurement is not taken into account. MATERIAL AND METHOD: Comparison of detection and false-positive rates of first-trimester DS screening (PerkinElmer, Turku, Finland), with and without NT, based on a retrospective study of 117,126 patients including 274 trisomy 21-affected fetuses. NT was measured by more than 3,000 certified sonographers. RESULTS: There was no significant difference in detection rates between the two strategies including or excluding NT measurement (86.7 vs. 81.8%). However, there was a significant difference in the false-positive rates (2.23 vs. 9.97%, p < 0.001). DISCUSSION: Sonographers should be aware that removing NT from combined first-trimester screening would result in a 5-fold increase in false-positive rate to maintain the expected detection rates. This should be an incentive for maintaining quality in NT measurement.

TÍTULO / TITLE:    - QUAD versus cfDNA in an urban population in the second trimester for detection of trisomy 21: a cost sensitivity analysis.

REVISTA / JOURNAL:    - J Matern Fetal Neonatal Med. 2016 Nov 9:1-6.

Enlace a la Editora de la Revista http://dx.doi.org/10.1080/14767058.2016.1247800

AUTORES / AUTHORS: - Crimmins S; Doyle L; Slejko J; Kopelman JN; Turan O;

INSTITUCIÓN / INSTITUTION: - b Department of Pharmacology , University of Maryland School of Medicine , Baltimore , MD , USA.  

RESUMEN / SUMMARY: - OBJECTIVE: To compare the unit cost of noninvasive prenatal testing (cell-free DNA [cfDNA]) in an urban population who did not have first-trimester screening as a primary screening tool for trisomy 21 (T21) to multiple marker screening (QUAD). METHODS: Retrospective study of all QUAD screens performed at a single center from 2013 to 2015. All QUAD screen performed between 15 and 21 weeks were included in the study. Exclusion criteria were patients without anatomy scans or delivery information. Utilizing our population characteristics, we extrapolated to determine the cost of QUAD with additional screening (cfDNA and amniocentesis) versus QUAD for this entire population. RESULTS: 590 QUAD screens were performed during the study time period. After ultrasound correction of gestational age, 5.9% (35) were screen positive. Within this cohort, 51.4% (18) patients underwent cfDNA and 11.4% (4) had invasive testing. No cases of T21 were identified. It would be cost equivalent to offer cfDNA as a primary screen for T21 at less than $360.54 to the entire population regardless of a priori risk status. Invasive procedures were reduced by 55.4%. CONCLUSIONS: cfDNA is an acceptable option for second-trimester screening and as a primary screen eliminates the need for multi-step screening preserving valuable healthcare resources.

PSYCHIATRY - PSIQUIATRÍA

TÍTULO / TITLE:    - Profiles of children with Down syndrome who meet screening criteria for autism spectrum disorder (ASD): a comparison with children diagnosed with ASD attending specialist schools.

REVISTA / JOURNAL:    - J Intellect Disabil Res. 2016 Nov 21. doi: 10.1111/jir.12344.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/jir.12344

AUTORES / AUTHORS: - Warner G; Howlin P; Salomone E; Moss J; Charman T;

INSTITUCIÓN / INSTITUTION: - Department of Psychology, Institute of Psychiatry, Psychology and Neuroscience, King’s College London, London, UK.  

RESUMEN / SUMMARY: - BACKGROUND: Recent research suggests that around 16% to 18% of children with Down syndrome (DS) also meet diagnostic criteria for autism spectrum disorder (ASD). However, there are indications that profiles of autism symptoms in this group may vary from those typically described in children with ASD. METHOD: Rates of autism symptoms and emotional and behavioural problems among children with DS who screened positive for ASD on the Social Communication Questionnaire (SCQ) (n = 183) were compared with a group of children with clinical diagnoses of ASD (n = 189) attending specialist schools in the UK. Groups were matched for age and approximate language level (use of phrase speech). RESULTS: Profiles of autistic symptoms in the two groups were generally similar, but children with DS meeting ASD cut-off on the SCQ tended to show fewer problems in reciprocal social interaction than those in the ASD group. They also showed slightly lower rates of emotional and peer-related problems. The results mostly confirm findings from a previous study in which the original validation sample for the SCQ was used as a comparison group. CONCLUSION: Findings suggest that children with DS who meet screening criteria for ASD show similar profiles of communication and repetitive behaviours to those typically described in autism. However, they tend to have relatively milder social difficulties. It is important that clinicians are aware of this difference if children with DS and ASD are to be correctly diagnosed and eligible for specialist intervention and education services.

TÍTULO / TITLE:    - The co-occurrence of Down syndrome and autism spectrum disorder: is it because of additional genetic variations?

REVISTA / JOURNAL:    - Prenat Diagn. 2016 Nov 17. doi: 10.1002/pd.4957.

Enlace a la Editora de la Revista http://dx.doi.org/10.1002/pd.4957

AUTORES / AUTHORS: - Rachubinski AL; Hepburn S; Elias ER; Gardiner K; Shaikh TH;

INSTITUCIÓN / INSTITUTION: - Section of Genetics and Metabolism, Department of Pediatrics, University of Colorado Denver School of Medicine, Aurora, CO, USA.; Linda Crnic Institute for Down Syndrome, University of Colorado Denver School of Medicine, Aurora, CO, USA.  

RESUMEN / SUMMARY: - Individuals with Down syndrome (DS) are diagnosed with autism spectrum disorder (ASD) at a significantly higher frequency than the typical population. The differentiation of ASD symptoms from those of severe intellectual disability presents diagnostic challenges, which have led to more refined methods in the clinical evaluation of ASD in DS. These improved phenotypic characterization methods not only provide better diagnosis of ASD in DS, but may also be useful in elucidating the etiology of the increased prevalence of ASD in DS. Because all individuals with the classic presentation of DS have trisomy 21, it is possible that those with co-occurring DS and ASD may have additional genetic variants which can act as modifiers of the phenotype, leading to the development of ASD. © 2016 John Wiley

QUALITY OF LIFE - CALIDAD DE VIDA

TÍTULO / TITLE:    - Growing up with Down syndrome: Development from 6 months to 10.7 years.

REVISTA / JOURNAL:    - Res Dev Disabil. 2016 Oct 13;59:437-450. doi: 10.1016/j.ridd.2016.09.019.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.ridd.2016.09.019

AUTORES / AUTHORS: - Marchal JP; Maurice-Stam H; Houtzager BA; Rutgers van Rozenburg-Marres SL; Oostrom KJ; Grootenhuis MA; van Trotsenburg AS

INSTITUCIÓN / INSTITUTION: - Psychosocial Department, Emma Children’s Hospital Academic Medical Center, University of Amsterdam, Post Box 22660, 1100 DD, Amsterdam, The Netherlands; Department of Paediatric Endocrinology & Psychosocial Department, Emma Children’s Hospi   j.p.marchal@amc.uva.nl

RESUMEN / SUMMARY: - BACKGROUND: We analysed developmental outcomes from a clinical trial early in life and its follow-up at 10.7 years in 123 children with Down syndrome. AIMS: To determine 1) strengths and weaknesses in adaptive functioning and motor skills at 10.7 years, and 2) prognostic value of early-life characteristics (early developmental outcomes, parental and child characteristics, and comorbidity) for later intelligence, adaptive functioning and motor skills. METHODS AND PROCEDURES: We used standardized assessments of mental and motor development at ages 6, 12 and 24 months, and of intelligence, adaptive functioning and motor skills at 10.7 years. We compared strengths and weaknesses in adaptive functioning and motor skills by repeated-measures ANOVAs in the total group and in children scoring above-average versus below-average. The prognostic value of demographics, comorbidity and developmental outcomes was analysed by two-step regression. OUTCOMES AND RESULTS: Socialisation was a stronger adaptive skill than Communication followed by Daily Living. Aiming and catching was a stronger motor skill than Manual dexterity, followed by Balance. Above-average and below-average scoring children showed different profiles of strengths and weaknesses. Gender, (the absence or presence of) infantile spasms and particularly 24-month mental functioning predicted later intelligence and adaptive functioning. Motor skills, however, appeared to be less well predicted by early life characteristics. CONCLUSIONS AND IMPLICATIONS: These findings provide a reference for expected developmental levels and strengths and weaknesses in Down syndrome.

TÍTULO / TITLE:    - Intrapersonal intelligence and development in people with Down syndrome.

REVISTA / JOURNAL:    - Revista Síndrome de Down, 33: 116-130, 2016

Enlace a la Editora de la Revista http://revistadown.downcantabria.com/2016/12/01/inteligencia-intrapersonal-y-desarrollo-en-las-personas-con-sindrome-de-down/

AUTORES / AUTHORS: - Cabezas D

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - Intrapersonal intelligence, one of the seven intelligences formulated by Howard Gardner, has to do with knowing yourself; recognizing and coping with emotions and feelings; and managing own behavior. People with intellectual disabilities have intrapersonal intelligence on many different levels; and they are able to deploy this intelligence in different contexts. Intrapersonal intelligence is able to exercise since early age, thereby improving gradually personal skills linked to that intelligence. To establish the relationship between the three components of intrapersonal intelligence (self-awareness, self-management of emotions and self-control of behavior) and personal development, we have relied on three metaphors: personal development such as construction, as ascension and as a journey. Experiences and programs that improve the skills related to intrapersonal intelligence are described.

TÍTULO / TITLE:    - Mothers and fathers of young Dutch adolescents with Down syndrome: Health related quality of life and family functioning.

REVISTA / JOURNAL:    - Res Dev Disabil. 2016 Sep 27;59:359-369. doi: 10.1016/j.ridd.2016.09.014.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.ridd.2016.09.014

AUTORES / AUTHORS: - Marchal JP; Maurice-Stam H; van Trotsenburg AS; Grootenhuis MA;

INSTITUCIÓN / INSTITUTION: - Psychosocial Department, Emma Children’s Hospital, Academic Medical Center, University of Amsterdam, Post box 22660, 1100 DD, Amsterdam, The Netherlands; Department of Paediatric Endocrinology, Emma Children’s Hospital, Academic Medical Cen   j.p.marchal@amc.uva.nl

RESUMEN / SUMMARY: - BACKGROUND: Like any child, children with Down syndrome (DS) affect the lives of their families. Most studies focus on the adaptation of parents and families of young children with DS, while relatively few studies include the perspective of fathers. AIMS: To determine 1) whether mothers and fathers of 11 to 13-year-olds with DS differ from reference parents in health related quality of life (HRQoL) and family functioning, and 2) whether HRQoL in parents of children with DS changes over time, from when the child was 6-8 years old to when the child was 11-13 years old. METHODS: 80 mothers and 44 fathers completed HRQoL and family functioning questionnaires. 58 parents (53 mothers) had completed the HRQoL-questionnaire in a previous study. RESULTS: Mothers differed from reference mothers in one HRQoL-domain (Sexuality), while fathers’ HRQoL did not significantly differ from reference fathers. Both mothers and fathers scored in the (sub)clinical range more frequently than reference parents in Total family functioning, and in the domains Partner relation and Social network. Furthermore, fathers scored in the (sub)clinical range more frequently than reference parents in Responsiveness and Organization. HRQoL showed no significant change over time. CONCLUSIONS AND IMPLICATIONS: Our findings indicate frequent family functioning problems but few HRQoL problems in parents and families of children with DS. In offering care, a family based approach with special attention for partner relation and social functioning is needed.

TÍTULO / TITLE:    - Communication skills of residents to families with Down syndrome babies.

REVISTA / JOURNAL:    - Arch Argent Pediatr. 2016 Dec 1;114(6):521-525. doi: 10.5546/aap.2016.eng.521.

Enlace a la Editora de la Revista http://dx.doi.org/10.5546/aap.2016.eng.521

AUTORES / AUTHORS: - Dogan DG; Kutluturk Y; Kivilcim M; Canaloglu SK

INSTITUCIÓN / INSTITUTION: - Inonu University School of Medicine, Department of Developmental Behavioral Pediatrics, Malatya, Turkey.   deryagumus@yahoo.com

RESUMEN / SUMMARY: - BACKGROUND: Generally, pediatricians are the first health caregivers to deliver initial diagnosis of Down syndrome (DS) to the families. However, most of the parents are not satisfied with the contents and how they receive information when their child is born with DS. Pediatric residents should target educational interventions to help parents to overcome with these issues and to provide accurate information. The objective is to assess comfort levels and training requirements of pediatric residents to communicate with parents of babies born with Down syndrome. METHODS: Diagnostic Situations Inventory (DSI) is a rating scale which included ten questions to assess discomfort level. A survey was sent via mobile, websites and all the social media which were available to all pediatrics residents in the country. Socio-demographic factors including information about training requirement were collected as well. RESULTS: From the 326 participants, total mean discomfort level was 30.22 in DSI out of 50 which was the highest score. Discomfort level was significantly increased in female participants (p= 0.033). Being female (p= 0.014), having less residency level (p= 0.028), examining less number of patients with Down syndrome (p= 0.025) and having higher discomfort levels (p= 0.001) were found to be related with increased training requirement. From the residents, 84% declared the need for additional training. CONCLUSIONS: This study showed that pediatric residents had a high level of discomfort when communicating with parents of newborn with Down Syndrome. Female residents had a discomfort level significantly higher than male residents.

TÍTULO / TITLE:    - Self-Reported Presence and Experience of Pain in Adults with Down Syndrome.

REVISTA / JOURNAL:    - Pain Med. 2016 Oct 2. pii: pnw226.

Enlace a la Editora de la Revista http://dx.doi.org/10.1093/pm/pnw226

AUTORES / AUTHORS: - de Knegt NC; Lobbezoo F; Schuengel C; Evenhuis HM; Scherder EJ;

INSTITUCIÓN / INSTITUTION: - Department of Clinical Neuropsychology, VU University, Amsterdam, the Netherlands   nc.de.knegt@vu.nl

RESUMEN / SUMMARY: - OBJECTIVE: The aim was to examine whether the presence of pain (based on physical conditions and participants’ report) and self-reported pain experience in adults with Down syndrome (DS) differ from general population controls. DESIGN: Cross-sectional study of 224 adults with DS (mean age = 38.1 years, mild-severe intellectual disabilities) and 142 age-matched controls (median age = 40.5 years, mean estimated IQ = 105.7) in the Netherlands. METHODS: File-based medical information was evaluated. Self-reported presence and experience of pain were assessed in rest and after movement during a test session (affect with facial affective scale (FAS: 0.04-0.97), intensity assessed with numeric rating scale (NRS: 0-10). RESULTS: Compared with controls, more DS participants had physical conditions that may cause pain and/or discomfort (p = .004, 50% vs 35%), but fewer DS participants reported pain during the test session (p = .003, 58% vs 73%). Of the participants who indicated pain and comprehended self-reporting scales (n = 198 FAS, n = 161 NRS), the DS group reported a higher pain affect and intensity than the controls (p < .001, FAS: 0.75-0.85 vs 0.50-0.59, NRS: 6.00-7.94 vs 2.00-3.73). CONCLUSIONS: Not all adults with DS and painful/discomforting physical conditions reported pain. Those who did indicated a higher pain experience than adults from the general population. Research into spontaneous self-report of pain, repeated pain assessment, and acute pain is needed in people with DS for more insight into pain experience and mismatches between self-report and medical information.

TÍTULO / TITLE:    - The Participation Patterns of Youth with Down Syndrome.

REVISTA / JOURNAL:    - Front Public Health. 2016 Nov 11;4:253. eCollection 2016.

Enlace a la Editora de la Revista http://dx.doi.org/10.3389/fpubh.2016.00253

AUTORES / AUTHORS: - MacDonald M; Leichtman J; Esposito P; Cook N; Ulrich DA;

INSTITUCIÓN / INSTITUTION: - College of Public Health and Human Sciences, Oregon State University , Corvallis, OR , USA.  

RESUMEN / SUMMARY: - PURPOSE: The purpose of this paper was to investigate the participation patterns of children with Down syndrome (DS) using the construct of participation as defined by the International Classification of Functioning Disability and Health (ICF). METHODS: Sixty-two children with DS were recruited between the ages of 9 and 17 years. All participants were given an interview-administered version of the Children’s Assessment of Participation and Enjoyment (CAPE) to measure participation (1). RESULTS: Children with DS participated the most often, based on frequency, in recreational activities (p < 0.001); social activity types represented the greatest extension into the community based on with whom the children participated with (p < 0.05); finally, physical and social activities represented the greatest extension into the community geographically (p < 0.001). In addition, children with DS are significantly more active in activities that are informal in nature. CONCLUSION: Children with DS participate in a number of activities; however, the extent of their participation within these activities differs depending on the participation pattern examined. Implications for educational and community-based programs are discussed.

TÍTULO / TITLE:    - Facing Down’s syndrome myths.

REVISTA / JOURNAL:    - Nurs Stand. 2016 Oct 12;31(7):66.

Enlace a la Editora de la Revista http://dx.doi.org/10.7748/ns.31.7.66.s48

AUTORES / AUTHORS: -

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - Layla Haidrani, writing in Learning Disability Practice, aims to debunk the myths and misconceptions that parents of children with Down’s syndrome face.

TÍTULO / TITLE:    - Ubiquitous and ambient-assisted living eHealth platforms for Down’s syndrome and palliative care in the Republic of Panama: A systematic review.

REVISTA / JOURNAL:    - Health Informatics J. 2016 Oct 21. pii: 1460458216671560.

Enlace a la Editora de la Revista http://dx.doi.org/10.1177/1460458216671560

AUTORES / AUTHORS: - Saldana Barrios JJ; Mendoza L; Pitti E; Vargas M

INSTITUCIÓN / INSTITUTION: - Technological University of Panama, Panama   juan.saldana@utp.ac.pa

RESUMEN / SUMMARY: - In this work, the authors present two eHealth platforms that are examples of how health systems are migrating from client-server architecture to the web-based and ubiquitous paradigm. These two platforms were modeled, designed, developed and implemented with positive results. First, using ambient-assisted living and ubiquitous computing, the authors enhance how palliative care is being provided to the elderly patients and patients with terminal illness, making the work of doctors, nurses and other health actors easier. Second, applying machine learning methods and a data-centered, ubiquitous, patient’s results’ repository, the authors intent to improve the Down’s syndrome risk estimation process with more accurate predictions based on local woman patients’ parameters. These two eHealth platforms can improve the quality of life, not only physically but also psychologically, of the patients and their families in the country of Panama.

RESPIRATORY - RESPIRATORIO

TÍTULO / TITLE:    - Cystic Lung Disease in Down Syndrome: A Case Report and Literature Review.

REVISTA / JOURNAL:    - Case Rep Pediatr. 2016;2016:4048501. Epub 2016 Oct 3.

Enlace a la Editora de la Revista http://dx.doi.org/10.1155/2016/4048501

AUTORES / AUTHORS: - George M Amodio J; Lee H

INSTITUCIÓN / INSTITUTION: - SUNY Downstate Medical Center, Department of Pediatrics, 450 Clarkson Avenue, Brooklyn, NY 11203, USA.  

RESUMEN / SUMMARY: - Subpleural lung cysts (SPC) are seen in children with Down syndrome (DS). The incidence and the long term course of these lesions are not known. It is important for pediatricians and pediatric radiologists to be aware of these lung lesions since the DS patients’ longevity has increased and they have greater frequency to encounter the clinicians. Autopsy and the radiology series have shown that these lesions are often found in association with congenital heart disease, particularly the endocardial cushion defect and prematurity.

TÍTULO / TITLE:    - Drug-induced sedation endoscopy in surgically naive children with Down syndrome and obstructive sleep apnea.

REVISTA / JOURNAL:    - Sleep Med. 2016 Aug;24:63-70. doi: 10.1016/j.sleep.2016.06.018. Epub 2016 Aug 22.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.sleep.2016.06.018

AUTORES / AUTHORS: - Maris M; Verhulst S; Saldien V; Van de Heyning P; Wojciechowski M; Boudewyns A;

INSTITUCIÓN / INSTITUTION: - Department of Otorhinolaryngology, Head and Neck Surgery, University Hospital Antwerp, Belgium-Antwerp University, Belgium.   an.boudewyns@uza.be

RESUMEN / SUMMARY: - OBJECTIVE: To describe the pattern of upper airway (UA) obstruction in surgically naive children with Down syndrome and obstructive sleep apnea (OSA), and to evaluate the outcome of drug-induced sedation endoscopy (DISE)-directed treatment. METHODS: A prospective study of DISE in surgically naive children with Down syndrome and OSA was performed. Treatment was individually tailored based on the DISE findings and was evaluated by control polysomnography (PGS). Results are presented as median (lower-upper quartile) unless otherwise stated. RESULTS: In 41 children, aged 4.2 years (range, 2.8-6.0) with a body mass z score of 1.04 (-0.55 to 1.82) and obstructive apnea-hypopnea index (oAHI) of 10.1/h (range, 6.3-23.0), DISE was performed. Adeno-/tonsillar obstruction was found in 75.6% of the patients, and these patients subsequently underwent UA surgery. Seven patients were non-surgically treated, and three received a combined treatment. A multilevel collapse was present in 85.4%. Tongue base obstruction was present in ten patients (24.4%) and epiglottic collapse in 48.8%. Pre- and postoperative PSG data were available for 25 children (adenotonsillectomy, n = 16; tonsillectomy, n = 7; adenoidectomy, n = 2). A significant improvement in oAHI from 11.4/h (range, 7.7-27.0) to 5.5/h (range, 2.1-7.6) was found. Persistent OSA was present in 52% of the children. No significant association between different DISE findings and persistent OSA could be found. CONCLUSION: Most patients with Down syndrome and OSA present with multilevel collapse on DISE. Adenotonsillectomy results in a significant improvement of the oAHI; however more than half of the patients had persistent OSA, probably due to multilevel collapse. Upper airway evaluation may provide more insights into the pattern of UA obstruction in patients with persistent OSA.

SURGERY - CIRUGÍA

TÍTULO / TITLE:    - Anaesthetic Management of a Case of Down’s Syndrome with Achalasia Cardia.

REVISTA / JOURNAL:    - J Clin Diagn Res. 2016 Oct;10(10):UD03-UD05. Epub 2016 Oct 1.

Enlace a la Editora de la Revista http://dx.doi.org/10.7860/JCDR/2016/21986.8616

AUTORES / AUTHORS: - Santha N; Upadya M; Vishwanatham S

INSTITUCIÓN / INSTITUTION: - Assistant Professor, Department of Anesthesiology, Kasturba Medical College, Manipal University , Mangalore, Karnataka, India .  

RESUMEN / SUMMARY: - Achalasia cardia is a disorder of the gastrointestinal tract characterized by dilatation of the oesophagus and collection of food and fluids in the oesophagus leading to massive regurgitation and aspiration of gastric contents. Down’s syndrome has multisystem effects which can also present as difficult airway. Here, we present a case of a 14-year-old girl, a case of Down’s syndrome with Achalasia cardia and mitral valve prolapse posted for Heller’s cardiomyotomy. Anaesthetic concerns were difficult airway due to Downs’s syndrome, massive aspiration risks of Achalasia cardia and haemodynamic instability due to mitral regurgitation. In spite of proper preparation of the patient there was massive regurgitation of oesophageal contents during intubation which was managed successfully. Haemodynamic changes due to mitral valve prolapse also had to be taken care of during the intraoperative period. Postoperative period was uneventful and the child was discharged after one week.

THERAPEUTICS - TERAPÉUTICA

TÍTULO / TITLE:    - Efficacy of Ifosfamide-Cisplatin-Etoposide (ICE) Chemotherapy for a CNS Germinoma in a Child With Down Syndrome.

REVISTA / JOURNAL:    - J Pediatr Hematol Oncol. 2016 Nov 22.

Enlace a la Editora de la Revista http://dx.doi.org/10.1097/MPH.0000000000000711

AUTORES / AUTHORS: - Nodomi S; Umeda K Ueno H Saida S Hiramatsu H Funaki T Arakawa Y Mizowaki T Adachi S Heike T

INSTITUCIÓN / INSTITUTION: - Departments of *Pediatrics daggerNeurosurgery double daggerRadiation Oncology and Image-Applied Therapy section signHuman Health Sciences, Graduate School of Medicine, Kyoto University, Kyoto, Japan.  

RESUMEN / SUMMARY: - Intracranial germ cell tumor is sometimes associated with Down syndrome; however, no optimal treatment has been developed due to the high risk of recurrence and treatment-related mortality. Here, we report on a patient with an intracranial germinoma in the bilateral basal ganglia. The patient received 3 courses of ifosfamide-cisplatin-etoposide in combination with whole-brain irradiation (24 Gy), with no serious complications. The patient is alive and disease free 16 months after the initial diagnosis. This regimen is a feasible treatment for intracranial germ cell tumor associated with Down syndrome, although careful attention must be paid to the increased risk for severe infection.

TÍTULO / TITLE:    - Combined Treatment With Environmental Enrichment and (-)-Epigallocatechin-3-Gallate Ameliorates Learning Deficits and Hippocampal Alterations in a Mouse Model of Down Syndrome.

REVISTA / JOURNAL:    - eNeuro. 2016 Nov 8;3(5). pii: ENEURO.0103-16.2016. eCollection 2016 Sep-Oct.

Enlace a la Editora de la Revista http://dx.doi.org/10.1523/ENEURO.0103-16.2016

AUTORES / AUTHORS: - Catuara-Solarz S Espinosa-Carrasco J Erb I Langohr K Gonzalez JR; Notredame C; Dierssen M

INSTITUCIÓN / INSTITUTION: - Universitat Pompeu Fabra (UPF), Barcelona, 08003, España; Comparative Bioinformatics, Bioinformatics, and Genomics Program, Barcelona Institute of Science and Technology, Centre for Genomic Regulation, Barcelona, 08003, España.  

RESUMEN / SUMMARY: - Intellectual disability in Down syndrome (DS) is accompanied by altered neuro-architecture, deficient synaptic plasticity, and excitation-inhibition imbalance in critical brain regions for learning and memory. Recently, we have demonstrated beneficial effects of a combined treatment with green tea extract containing (-)-epigallocatechin-3-gallate (EGCG) and cognitive stimulation in young adult DS individuals. Although we could reproduce the cognitive-enhancing effects in mouse models, the underlying mechanisms of these beneficial effects are unknown. Here, we explored the effects of a combined therapy with environmental enrichment (EE) and EGCG in the Ts65Dn mouse model of DS at young age. Our results show that combined EE-EGCG treatment improved corticohippocampal-dependent learning and memory. Cognitive improvements were accompanied by a rescue of cornu ammonis 1 (CA1) dendritic spine density and a normalization of the proportion of excitatory and inhibitory synaptic markers in CA1 and dentate gyrus.

TÍTULO / TITLE:    - Anaesthetic Management of a Case of Down’s Syndrome with Achalasia Cardia.

REVISTA / JOURNAL:    - J Clin Diagn Res. 2016 Oct;10(10):UD03-UD05. Epub 2016 Oct 1.

Enlace a la Editora de la Revista http://dx.doi.org/10.7860/JCDR/2016/21986.8616

AUTORES / AUTHORS: - Santha N; Upadya M; Vishwanatham S

INSTITUCIÓN / INSTITUTION: - Assistant Professor, Department of Anesthesiology, Kasturba Medical College, Manipal University , Mangalore, Karnataka, India .  

RESUMEN / SUMMARY: - Achalasia cardia is a disorder of the gastrointestinal tract characterized by dilatation of the oesophagus and collection of food and fluids in the oesophagus leading to massive regurgitation and aspiration of gastric contents. Down’s syndrome has multisystem effects which can also present as difficult airway. Here, we present a case of a 14-year-old girl, a case of Down’s syndrome with Achalasia cardia and mitral valve prolapse posted for Heller’s cardiomyotomy. Anaesthetic concerns were difficult airway due to Downs’s syndrome, massive aspiration risks of Achalasia cardia and haemodynamic instability due to mitral regurgitation. In spite of proper preparation of the patient there was massive regurgitation of oesophageal contents during intubation which was managed successfully. Haemodynamic changes due to mitral valve prolapse also had to be taken care of during the intraoperative period. Postoperative period was uneventful and the child was discharged after one week.

TÍTULO / TITLE:    - Plant polyphenols as natural drugs for the management of Down syndrome and related disorders.

REVISTA / JOURNAL:    - Neurosci Biobehav Rev. 2016 Dec;71:865-877. doi: 10.1016/j.neubiorev.2016.10.023. Epub 2016 Nov 5.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.neubiorev.2016.10.023

AUTORES / AUTHORS: - Vacca RA; Valenti D; Caccamese S; Daglia M; Braidy N; Nabavi SM;

INSTITUCIÓN / INSTITUTION: - Institute of Biomembranes and Bioenergetics, Italian National Council of Research, Bari, Italy.   r.vacca@ibbe.cnr.it

RESUMEN / SUMMARY: - Polyphenols are secondary metabolites of plants largely found in fruits, vegetables, cereals and beverages, and therefore represent important constituents of the human diet. Increasing studies have demonstrated the potential beneficial effects of polyphenols on human health. Extensive reviews have discussed the protective effects of polyphenols against a series of diseases such as cancer, cardiovascular diseases, diabetes, and neurodegenerative disorders. Limited studies have investigated the potential therapeutic effects of these natural compounds on neurodevelopmental disorders associated with intellectual disability, such as Down syndrome (DS), for which mitochondrial dysfunctions and oxidative stress are hallmarks and contribute to the deleterious symptoms and cognitive decline. This review, starting from the structure, source, bioavailability and pharmacokinetics of relevant polyphenols, highlights recent studies on the effect and potential molecular mechanism(s) of action of the phenolic compounds epigallocatechin-3-gallate, resveratrol and hydroxytyrosol in restoring mitochondrial energy deficit and in reversing phenotypical alteration in DS. The clinical implications of plant polyphenol dietary supplements as therapeutic tools in managing DS and other intellectual disability-related diseases, is also discussed.

URINARY/RENAL - URINARIO/RENAL

TÍTULO / TITLE:    - Incontinence in persons with Down Syndrome.

REVISTA / JOURNAL:    - Neurourol Urodyn. 2016 Oct 4. doi: 10.1002/nau.23146.

Enlace a la Editora de la Revista http://dx.doi.org/10.1002/nau.23146

AUTORES / AUTHORS: - Niemczyk J; von Gontard A; Equit M; Medoff D; Wagner C; Curfs L

INSTITUCIÓN / INSTITUTION: - Department of Child and Adolescent Psychiatry, Saarland University Hospital, Homburg, Germany.   justine.niemczyk@uks.eu

RESUMEN / SUMMARY: - AIMS: To assess the rates of incontinence and associated psychological problems in children, adolescents and adults with Down Syndrome, a genetic syndrome caused by partial or complete triplication (trisomy) of chromosome 21 and characterized by typical facial features, a physical growth delay and mild or moderate intellectual disability. METHODS: Three hundred and seventeen persons with Down Syndrome (4-51 years) were recruited through a German parent support group (59.6% male, mean age 19.2 years). The Parental Questionnaire: Enuresis/Urinary Incontinence, the Incontinence Questionnaire-Pediatric Lower Urinary Tract Symptoms, as well as the Developmental Behavior Checklist (DBC) for parents or for adults were filled out by parents or care-givers. RESULTS: 17.2% of the sample had nocturnal enuresis, 15.9% had daytime urinary incontinence, and 14.2% had fecal incontinence. Incontinence was present in 64.0% of young children (4-12 years), 10.3% of teens (13-17 years), 12.8% of young adults (18-30 years) and in 22.4% of older adults (>30 years). 13.6% of children and 8.4% of adults had a DBC score in the clinical range. 19.5% of children and 27.8% of adults with incontinence had behavioral problems. There was a significant association between nocturnal enuresis, daytime urinary incontinence and clinical DBC scores in adults. CONCLUSIONS: Incontinence in Down Syndrome is mainly present in young children and increases in older adults. Behavioral comorbidity is associated with incontinence only in adults with Down Syndrome. Screening and treatment of incontinence in individuals with Down Syndrome is recommended.

EDUCATION - EDUCACIÓN

TÍTULO / TITLE:    - Age and gender-related differences in emotional and behavioural problems and autistic features in children and adolescents with Down syndrome: a survey-based study of 674 individuals.

REVISTA / JOURNAL:    - J Intellect Disabil Res. 2016 Nov 13. doi: 10.1111/jir.12342.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/jir.12342

AUTORES / AUTHORS: - Naerland T; Bakke KA; Storvik S; Warner G; Howlin P

INSTITUCIÓN / INSTITUTION: - NevSom Department of Rare Disorders, Oslo University Hospital, Oslo, Norway.  

RESUMEN / SUMMARY: - BACKGROUND: Recent studies have indicated an increased risk of autism, behavioural and emotional problems and attention-deficit/hyperactivity disorder in individuals with Down syndrome. METHOD: In a large-scale survey-based study, we examined the rates of these problems and their relationship to age and gender, in a sample of 674 individuals (4-18 years) with Down syndrome. The relationship with IQ level was also explored in a subsample (n = 175). The Strengths and Difficulties Questionnaire and the Social Communication Questionnaire were used to assess behavioural and emotional problems and autism traits. RESULTS: On the Strengths and Difficulties Questionnaire, peer problems were the most frequently reported difficulty (48% > cut-off), followed by hyperactivity/inattention (34% > cut-off). On the Social Communication Questionnaire, 37% scored at or above cut-off (>/=15) for autism spectrum disorder; 17% were at or above the suggested cut-off (>/=22) for autism. Little association between age and behavioural or emotional problems or with severity of autistic symptomatology was found. However, peer problems were more common in adolescents than in junior school children (P < 0.001); Hyperactivity/inattention was less prevalent among adolescents (P < 0.001). CONCLUSIONS: High rates of autistic features, emotional and behavioural problems are documented. These problems are related to age, gender and degree of intellectual disability.

TÍTULO / TITLE:    - Addressing phonological memory in language therapy with clients who have Down syndrome: Perspectives of speech-language pathologists.

REVISTA / JOURNAL:    - Int J Lang Commun Disord. 2016 Nov;51(6):703-714. doi: 10.1111/1460-6984.12241. Epub 2016 May 5.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/1460-6984.12241

AUTORES / AUTHORS: - Faught GG; Conners FA; Barber AB; Price HR

INSTITUCIÓN / INSTITUTION: - Department of Psychology, University of Alabama, Tuscaloosa, AL, USA.   eggraham@crimson.ua.edu

RESUMEN / SUMMARY: - BACKGROUND: Phonological memory (PM) plays a significant role in language development but is impaired in individuals with Down syndrome (DS). Without formal recommendations on how to address PM limitations in clients with DS, it is possible speech-language pathologists (SLPs) find ways to do so in their practices. AIMS: This study asked if and how SLPs address PM in language therapy with clients who have DS. It also asked about SLPs’ opinions of the importance, practicality and difficulty of addressing PM in clients with DS. METHODS & PROCEDURES: SLPs participated in an online survey that asked if they address PM in clients with DS and, if so, how often and with which techniques. The survey also asked SLPs to rate their opinions of addressing PM in clients with DS with Likert scales. To contrast clients with DS, SLPs were asked about their practices and opinions with clients who have specific language impairment (SLI) and autism spectrum disorders (ASD). SLPs were recruited through e-mails sent from state organizations and researchers. To compare SLPs’ practices and opinions across client types, frequency analyses and analyses of variance (ANOVAs) were run. OUTCOMES & RESULTS: In all, 290 SLPs from 28 states completed the survey. Nearly all SLPs were currently practising at the time data were collected, and all worked with at least one of the three client types. Findings indicated SLPs less often addressed PM and used less variety when addressing PM with clients who have DS compared with clients who have SLI or ASD. Further, SLPs considered it less important, less practical and more difficult to address PM in clients who have DS when compared with clients who have SLI, whereas a similar pattern was found with clients who have ASD. CONCLUSIONS & IMPLICATIONS: SLPs’ opinions could be one reason they under-address PM with clients who have DS. Other reasons include there are no evidence-based practice (EBP) guidelines on this topic, and there is not enough familiarity w

TÍTULO / TITLE:    - Growing up with Down syndrome: Development from 6 months to 10.7 years.

REVISTA / JOURNAL:    - Res Dev Disabil. 2016 Oct 13;59:437-450. doi: 10.1016/j.ridd.2016.09.019.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.ridd.2016.09.019

AUTORES / AUTHORS: - Marchal JP; Maurice-Stam H; Houtzager BA; Rutgers van Rozenburg-Marres SL; Oostrom KJ; Grootenhuis MA; van Trotsenburg AS

INSTITUCIÓN / INSTITUTION: - Psychosocial Department, Emma Children’s Hospital Academic Medical Center, University of Amsterdam, Post Box 22660, 1100 DD, Amsterdam, The Netherlands; Department of Paediatric Endocrinology & Psychosocial Department, Emma Children’s Hospi   j.p.marchal@amc.uva.nl

RESUMEN / SUMMARY: - BACKGROUND: We analysed developmental outcomes from a clinical trial early in life and its follow-up at 10.7 years in 123 children with Down syndrome. AIMS: To determine 1) strengths and weaknesses in adaptive functioning and motor skills at 10.7 years, and 2) prognostic value of early-life characteristics (early developmental outcomes, parental and child characteristics, and comorbidity) for later intelligence, adaptive functioning and motor skills. METHODS AND PROCEDURES: We used standardized assessments of mental and motor development at ages 6, 12 and 24 months, and of intelligence, adaptive functioning and motor skills at 10.7 years. We compared strengths and weaknesses in adaptive functioning and motor skills by repeated-measures ANOVAs in the total group and in children scoring above-average versus below-average. The prognostic value of demographics, comorbidity and developmental outcomes was analysed by two-step regression. OUTCOMES AND RESULTS: Socialisation was a stronger adaptive skill than Communication followed by Daily Living. Aiming and catching was a stronger motor skill than Manual dexterity, followed by Balance. Above-average and below-average scoring children showed different profiles of strengths and weaknesses. Gender, (the absence or presence of) infantile spasms and particularly 24-month mental functioning predicted later intelligence and adaptive functioning. Motor skills, however, appeared to be less well predicted by early life characteristics. CONCLUSIONS AND IMPLICATIONS: These findings provide a reference for expected developmental levels and strengths and weaknesses in Down syndrome.

TÍTULO / TITLE:    - Pursuing Precision Speech-Language Therapy Services for Children with Down Syndrome.

REVISTA / JOURNAL:    - Semin Speech Lang. 2016 Nov;37(4):239-251. Epub 2016 Oct 4.

Enlace a la Editora de la Revista http://dx.doi.org/10.1055/s-0036-1587708

AUTORES / AUTHORS: - McDaniel J; Yoder PJ

INSTITUCIÓN / INSTITUTION: - Department of Hearing and Speech Sciences, Vanderbilt University, Nashville, Tennessee.  

RESUMEN / SUMMARY: - The behavioral phenotype of individuals with Down syndrome (DS) offers one avenue for developing speech-language therapy services that are tailored to the individual’s characteristics that affect treatment response. Behavioral phenotypes are patterns of behavioral strengths and weaknesses for specific genetic disorders that can help guide the development and implementation of effective interventions. Nonetheless, individual differences within children with DS must be acknowledged and addressed because behavioral phenotypes are probabilistic, not deterministic. Developing precision speech-language therapy services to maximize learning opportunities and outcomes for children with DS calls for increased collaboration among clinicians and researchers to address the needs, challenges, and opportunities on three interconnected themes: (1) moving effective interventions from research to practice, (2) making evidence-based, child-specific treatment intensity decisions, and (3) considering child motivation and temperament characteristics. Increased availability of intervention materials and resources as well as more specific recommendations that acknowledge individual differences could help narrow the research-practice gap. Clear descriptions of disciplined manipulations of treatment intensity components could lead to more effective intervention services. Last, addressing motivation and temperament characteristics, such as the personality-motivation orientation, in children with DS may help maximize learning opportunities. Focused attention and collaboration on these key themes could produce substantial, positive changes for children with DS and their families in the coming decade.

TÍTULO / TITLE:    - Management in the classroom: A tool for inclusion of students with Down syndrome.

REVISTA / JOURNAL:    - Revista Síndrome de Down.33: 131-144, 2016

AUTORES / AUTHORS: - Ruiz, E

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - To attend educative diversity requires engaging in both classroom activities and organizational program in the whole school. Proper management in the classroom, per se, contributes to the inclusion of the student with Down syndrome. In the context of the curricular adaptations we have previously proposed, this article describes many activities which may help teachers to offer to all students in their classrooms, even if no other special educator is present in the room. In this way, the child with Down syndrome will be no exception and will receive adequate inputs, as long as his learning style is secured and properly used.

TÍTULO / TITLE:    - The Composition of Early Vocabulary in Spanish Children With Down Syndrome and Their Peers With Typical Development.

REVISTA / JOURNAL:    - Am J Speech Lang Pathol. 2016 Nov 1;25(4):605-619. doi: 10.1044/2016_AJSLP-15-0095.

Enlace a la Editora de la Revista http://dx.doi.org/10.1044/2016_AJSLP-15-0095

AUTORES / AUTHORS: - Checa E; Galeote M; Soto P;

INSTITUCIÓN / INSTITUTION: - Universidad de Malaga, España.  

RESUMEN / SUMMARY: - Purpose: There are very few studies, and at present none in Spanish, on vocabulary composition in children with Down syndrome (DS). Nor has the topic been widely assessed in Spanish-speaking children with typical development (TD). This study analyzed the composition of early vocabularies in a large sample of Spanish-speaking children with DS and compared it with that of children with TD. Method: We studied 108 children with DS and 108 children with TD with mental ages between 8 and 29 months, matched for size of productive vocabulary and gender. The MacArthur-Bates Communicative Development Inventories (Fenson et al., 1993, 2007), adapted to the language development profile of children with DS, were used. The categories examined were nouns, predicates, closed-class words, and social words. Results: The performance of children with DS was similar to that of children with TD with the same vocabulary size. The only significant difference was the larger production of nouns by children with DS. The trends of development in the different classes of words were also similar. Conclusions: The strategies used by children with DS to learn vocabulary may be similar to those used by children with TD in the first stages of language learning.
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