CITAS BIBLIOGRÁFICAS
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Marzo 2017 - Abril 2017
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AGING - ENVEJECIMIENTO

TÍTULO / TITLE:    - Neprilysin Is Suppressed by Dual-Specificity Tyrosine-Phosphorylation Regulated Kinase 1A (DYRK1A) in Down-Syndrome-Derived Fibroblasts.

REVISTA / JOURNAL:    - Biol Pharm Bull. 2017;40(3):327-333. doi: 10.1248/bpb.b16-00825.

Enlace a la Editora de la Revista http://dx.doi.org/10.1248/bpb.b16-00825

AUTORES / AUTHORS: - Kawakubo T; et al.

INSTITUCIÓN / INSTITUTION: - Department of Genome-based Drug Discovery, Graduation School of Biomedical Sciences, Nagasaki University.  

RESUMEN / SUMMARY: - Amyloid-beta peptide (Abeta) accumulation is a triggering event leading to the Alzheimer’s disease (AD) pathological cascade. Almost all familial AD-linked gene mutations increase Abeta production and accelerate the onset of AD. The Swedish mutation of amyloid precursor protein (APP) affects beta-secretase activity and increases Abeta production up to ca. 6-fold in cultured cells; the onset age is around 50. Down syndrome (DS) patients with chromosome 21 trisomy present AD-like pathologies at earlier ages (40s) compared with sporadic AD patients, because APP gene expression is 1.5-fold higher than that in healthy people, thus causing a 1.5-fold increase in Abeta production. However, when comparing the causal relationship of Abeta accumulation with the onset age between the above two populations, early DS pathogenesis does not appear to be accounted for by the increased Abeta production alone. In this study, we found that neprilysin, a major Abeta-degrading enzyme, was downregulated in DS patient-derived fibroblasts, compared with healthy people-derived fibroblasts. Treatment with harmine, an inhibitor of dual-specificity tyrosine phosphorylation-regulated kinase 1A (DYRK1A), which is located in the DS critical region of chromosome 21, and gene knockdown of DYRK1A, upregulated neprilysin in fibroblasts. These results suggest that a decrease in the Abeta catabolic rate may be, at least in part, one of the causes for accelerated AD-like pathogenesis in DS patients if a similar event occurs in the brains, and that neprilysin activity may be regulated directly or indirectly by DYRK1A-mediated phosphorylation. DYRK1A inhibition may be a promising disease-modifying therapy for AD via neprilysin upregulation.

TÍTULO / TITLE:    - The Down syndrome brain in the presence and absence of fibrillar beta-amyloidosis.

REVISTA / JOURNAL:    - Neurobiol Aging. 2017 Jan 17;53:11-19. doi: 10.1016/j.neurobiolaging.2017.01.009.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.neurobiolaging.2017.01.009

AUTORES / AUTHORS: - Annus T; et al.

INSTITUCIÓN / INSTITUTION: - Cambridge Intellectual and Developmental Disabilities Research Group, Department of Psychiatry, University of Cambridge, Douglas House, Cambridge, UK.   t.annus@cantab.net

RESUMEN / SUMMARY: - People with Down syndrome (DS) have a neurodevelopmentally distinct brain and invariably developed amyloid neuropathology by age 50. This cross-sectional study aimed to provide a detailed account of DS brain morphology and the changes occuring with amyloid neuropathology. Forty-six adults with DS underwent structural and amyloid imaging-the latter using Pittsburgh compound B (PIB) to stratify the cohort into PIB-positive (n = 19) and PIB-negative (n = 27). Age-matched controls (n = 30) underwent structural imaging. Group differences in deep gray matter volumetry and cortical thickness were studied. PIB-negative people with DS have neurodevelopmentally atypical brain, characterized by disproportionately thicker frontal and occipitoparietal cortex and thinner motor cortex and temporal pole with larger putamina and smaller hippocampi than controls. In the presence of amyloid neuropathology, the DS brains demonstrated a strikingly similar pattern of posterior dominant cortical thinning and subcortical atrophy in the hippocampus, thalamus, and striatum, to that observed in non-DS Alzheimer’s disease. Care must be taken to avoid underestimating amyloid-associated morphologic changes in DS due to disproportionate size of some subcortical structures and thickness of the cortex.

TÍTULO / TITLE:    - Anomalous White Matter Structure and the Effect of Age in Down Syndrome Patients.

REVISTA / JOURNAL:    - J Alzheimers Dis. 2017;57(1):61-70. doi: 10.3233/JAD-161112.

Enlace a la Editora de la Revista http://dx.doi.org/10.3233/JAD-161112

AUTORES / AUTHORS: - Fenoll R; et al.

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - BACKGROUND: Neural tissue alterations in Down syndrome are fully expressed at relatively late developmental stages. In addition, there is an early presence of neurodegenerative changes in the late life stages. OBJECTIVE: The aims of this study were both to characterize white matter abnormalities in the brain of adult Down syndrome patients using diffusion tensor imaging (DTI) and to investigate whether degenerative alterations in white matter structure are detectable before dementia is clinically evident. METHODS: Forty-five adult non-demented Down syndrome patients showing a wide age range (18-52 years) and a matched 45-subject control group were assessed. DTI fractional anisotropy (FA) brain maps were generated and selected cognitive tests were administered. RESULTS: Compared with healthy controls, non-demented Down syndrome patients showed lower DTI FA in white matter involving the major pathways, but with more severe alterations in the frontal-subcortical circuits. White matter FA decreased with age at a similar rate in both DS and control groups. CONCLUSIONS: Our results contribute to characterizing the expression of white matter structural alterations in adult Down syndrome. However, an accelerated aging effect was not demonstrated, which may suggest that the FA measurements used are not sufficiently sensitive or, alternatively, age-related white matter neurodegeneration is not obvious prior to overt clinical dementia.

TÍTULO / TITLE:    - Blood Beta-Amyloid and Tau in Down Syndrome: A Comparison with Alzheimer’s Disease.

REVISTA / JOURNAL:    - Front Aging Neurosci. 2017 Jan 17;8:316. doi: 10.3389/fnagi.2016.00316. eCollection 2016.

Enlace a la Editora de la Revista http://dx.doi.org/10.3389/fnagi.2016.00316

AUTORES / AUTHORS: - Lee NC; et al.

INSTITUCIÓN / INSTITUTION: - Department of Pediatrics, National Taiwan University Hospital, College of Medicine, National Taiwan UniversityTaipei, Taiwan; Department of Medical Genetics, National Taiwan University Hospital, College of Medicine, National Taiwan Universi  

RESUMEN / SUMMARY: - Background: Changes in beta-amyloids (Abeta) and tau proteins have been noted in patients with Alzheimer’s disease (AD) and patients with both Down syndrome (DS) and AD. However, reports of changes in the early stage of regression, such as behavioral and psychological symptoms of dementia (BPSD), in DS are sparse. Methods: Seventy-eight controls, 62 patients with AD, 35 with DS and 16 with DS with degeneration (DS_D), including 9 with BPSD and 7 with dementia, were enrolled. The levels of beta-amyloids 40 and 42 (Abeta-40, Abeta-42) and tau protein in the blood were analyzed using immunomagnetic reduction (IMR). The Adaptive Behavior Dementia Questionnaire (ABDQ) was used to evaluate the clinical status of the degeneration. Results: The Abeta-40 and tau levels were higher and the Abeta-42 level and Abeta-42/Abeta-40 ratio were lower in DS than in the controls (all p< 0.001). Decreased Abeta-40 and increased Abeta-42 levels and Abeta-42/40 ratios were observed in DS_D compared with DS without degeneration (all p < 0.001). The ABDQ score was negatively correlated with the Abeta-40 level (rho = -0.556) and the tau protein level (rho = -0.410) and positively associated with the Abeta-42 level (rho = 0.621) and the Abeta-42/40 ratio (rho = 0.544; all p< 0.05). Conclusions: The Abeta-40 and Abeta-42 levels and the Abeta-42/Abeta-40 ratio are considered possible biomarkers for the early detection of degeneration in DS. The elevated Abeta-40 and tau levels in DS may indicate early neurodegeneration. The increased Abeta-42 in DS_D may reflect the neurotoxicity of Abeta-42. The paradox of the tau decreases in DS_D could be explained by a burnout phenomenon during long-term neurodegeneration. The different patterns of the plasma beta amyloids and tau protein may imply a different pathogenesis between DS with degeneration and AD in the general population, in spite of their common key pathological features.

CARDIOLOGY - CARDIOLOGÍA

TÍTULO / TITLE:    - Cardiovascular and general health status of adults with Trisomy 21.

REVISTA / JOURNAL:    - Int J Cardiol. 2017 Mar 10. pii: S0167-5273(16)32518-9. doi: 10.1016/j.ijcard.2017.03.040.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.ijcard.2017.03.040

AUTORES / AUTHORS: - Hayes SA; Yetman et al.

INSTITUCIÓN / INSTITUTION: - University of Nebraska and Children’s Hospital & Medical Center, Omaha, NE, United States.   ayetman@childrensomaha.org

RESUMEN / SUMMARY: - BACKGROUND: Patients with Trisomy 21 are now living well into adulthood. Little data exists to assist the cardiologist in the care of these patients. We sought to examine the cardiac and general health status of adults with Trisomy 21 undergoing cardiac evaluation. METHODS & RESULTS: A retrospective review of all affected adults >21years followed at 2 tertiary care institutions was performed. Of 193 patients identified, median age was 31 (range 21.1-60.5) years. Cardiac surgery was performed in childhood in 127 with 30 patients who did not undergo surgery developing Eisenmenger syndrome. The remaining 36 patients did not warrant early surgical intervention. Six patients were lost to follow-up. Significant cardiac residua were present in 117 (62%). Arrhythmias were present in 53 (28%) with 15 having atrial fibrillation (8%). Non-cardiac comorbidities were common and included sleep apnea, pulmonary hypertension, thyroid dysfunction, thromboses and recurrent infections. Hospitalization in adulthood occurred in 58 patients (51%); pneumonia and cardiac related surgeries being the most common reasons for hospitalization. Average age of death (n=23) was 39.8+/-8.5years. Transition of care to an adult provider was uncommon occurring in 54 (27%) patients. On multivariate analysis, presence of younger age and absence of pulmonary hypertension were the sole predictors of survival for the group as a whole, as well as those patients without Eisenmenger syndrome. CONCLUSIONS: Adults with Trisomy 21 have frequent cardiac and non-cardiac co-morbidities. Cardiologists caring for these patients should be familiar with the adult acquired medical problems these patients encounter.

TÍTULO / TITLE:    - Sedation methods for transthoracic echocardiography in children with Trisomy 21-a retrospective study.

REVISTA / JOURNAL:    - Paediatr Anaesth. 2017 May;27(5):531-539. doi: 10.1111/pan.13120. Epub 2017 Feb 8.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/pan.13120

AUTORES / AUTHORS: - Miller J et al.

INSTITUCIÓN / INSTITUTION: - Division of Biostatistics & Epidemiology, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, USA.  

RESUMEN / SUMMARY: - BACKGROUND: Many children with Trisomy 21 have neurologic or behavioral problems that make it difficult for them to remain still during noninvasive imaging studies, such as transthoracic echocardiograms (TTEcho). Recently, intranasal dexmedetomidine sedation has been introduced for this purpose. However, dexmedetomidine has been associated with bradycardia. Children with Trisomy 21 have been reported to have a higher risk of bradycardia and airway obstruction with sedation or anesthesia compared to children without Trisomy 21. OBJECTIVE: Our aim was to quantify the incidence of age-defined bradycardia and other adverse effects in patients with Trisomy 21 under sedation for TTEcho using a variety of sedation and anesthesia techniques available and utilized at our institution in this challenging patient population, including intranasal dexmedetomidine, oral pentobarbital, general anesthesia with propofol, and general anesthesia with sevoflurane. Our primary hypothesis was that intranasal dexmedetomidine sedation would result in a significantly higher risk of bradycardia in patients with Trisomy 21, compared with other sedative or anesthetic regimens. METHODS: This is a retrospective, observational study of 147 consecutive patients with Trisomy 21 who were sedated or anesthetized for transthoracic echocardiography. Efficacy of sedation was defined as no need for rescue sedation or conversion to an alternate technique. Lowest and highest heart rate, systolic blood pressure, oxygen saturation, and PR interval from formal electrocardiograms were extracted from the electronic medical record. These data were compared to age-defined normal values to determine adverse events. RESULTS: Four methods of sedation or anesthesia were utilized to perform sedated transthoracic echocardiography: general anesthesia with sevoflurane by mask, general anesthesia with sevoflurane induction followed by intravenous propofol maintenance, oral pentobarbital, and intranasal dexmedetomidine. Int

TÍTULO / TITLE:    - Attrition in patients with single ventricle and trisomy 21: outcomes after a total cavopulmonary connection.

REVISTA / JOURNAL:    - Interact Cardiovasc Thorac Surg. 2017 Feb 13. doi: 10.1093/icvts/ivw413.

Enlace a la Editora de la Revista http://dx.doi.org/10.1093/icvts/ivw413

AUTORES / AUTHORS: - Polimenakos AC et al

INSTITUCIÓN / INSTITUTION: - Division of Pediatric Cardiovascular Surgery, Advocate Children’s Hospital, Oak Lawn, IL, USA.  

RESUMEN / SUMMARY: -

DENTAL - DENTAL

TÍTULO / TITLE:    - Salivary secretory IgA concentration and dental caries in children with Down syndrome.

REVISTA / JOURNAL:    - Spec Care Dentist. 2017 Mar 6. doi: 10.1111/scd.12222.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/scd.12222

AUTORES / AUTHORS: - Hashizume LN; et al.

INSTITUCIÓN / INSTITUTION: - Department of Preventive and Social Dentistry, Faculty of Dentistry, Federal University of Rio Grande do Sul, Porto Alegre, RS, Brazil.  

RESUMEN / SUMMARY: - PURPOSE: To evaluate the relationship between salivary secretory immunoglobulin A (sIgA) concentration and dental caries in children with Down syndrome (DS) and compare it with findings in non-DS children. METHODS: The sample comprised 61 DS children and 52 non-DS children, aged 6 to 14 years. Caries experience, plaque index (PI), and gingival bleeding index (GBI) were recorded. Saliva samples were collected from all children. Total salivary sIgA concentrations were determined using an enzymatic assay method. RESULTS: Caries experience in primary and permanent dentitions were similar in DS and non-DS children. However, PI and GBI values were significantly lower in DS compared to non-DS children. DS children had higher salivary sIgA concentrations compared to non-DS children. No difference in sIgA concentration was observed between children with and without caries experience in either group. CONCLUSIONS: DS children have higher salivary sIgA concentrations than non-DS children. However, this finding did not correlate with caries experience in the study population.

TÍTULO / TITLE:    - Dental development in Down syndrome and healthy children: a comparative study using the Demirjian method.

REVISTA / JOURNAL:    - Orthod Craniofac Res. 2017 Feb 16. doi: 10.1111/ocr.12139.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/ocr.12139

AUTORES / AUTHORS: - van der Linden MS et al

INSTITUCIÓN / INSTITUTION: - Orthodontics, Erasmus MC University Medical Center, Rotterdam, Netherlands.  

RESUMEN / SUMMARY: - OBJECTIVE: In children with Down syndrome, the timing of dental eruption is important for orthodontics treatment planning. Aim of this study was to determine whether tooth eruption and development of the dentition in children with Down syndrome are impaired. MATERIAL AND METHODS: Dental development was scored on orthopantomograms (OPTs) of 95 children with Down syndrome. The dental age was determined at the left mandibular side according to the Demirjian method and by converting the assigned scores to the dental maturity score. Dental development scores of control children and DS children were compared with a mixed model linear regression analysis. RESULTS: The model showed statistically significant changes relating to increasing age (P<0.001) and gender (P<0.05). In this comparison, the total DS group (with and without hypodontia) was not statistically significantly different from the control group. There was also no significant difference between the total sample of DS children and the control group after using the Nystrom imputation (with and without hypodontia). CONCLUSION: The findings showed that dental development in DS children is similar to the development of control children and that a relationship exists between hypodontia and dental development. The clinically observed late eruption is probably not due to late dental development but due to the other processes that take place during eruption, such as the possible impaired processes at the apical side and the occlusal side of an erupting element.

TÍTULO / TITLE:    - Coexistence of fusion and concrescence of primary teeth: in a child with Down syndrome.

REVISTA / JOURNAL:    - Spec Care Dentist. 2017 Jan 31. doi: 10.1111/scd.12218.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/scd.12218

AUTORES / AUTHORS: - Singh A; et al

INSTITUCIÓN / INSTITUTION: - Assistant Professor, Department of Pedodontics and Preventive Dentistry, Manav Rachna Dental College, Faridabad, Haryana, India.  

RESUMEN / SUMMARY: - Down syndrome is one of the most common congenital anomaly. It is most frequently caused by trisomy of chromosome 21. Other causes can be mosaicism and translocation. Such patients are commonly encountered in routine dental practice. This syndrome has wide range of medical and dental abnormalities. This paper presents a unique case of fusion and concrescence of retained primary teeth in a child with Down syndrome. The incidence of such anomalies is quite low in these cases. Thus, a better awareness of such conditions on part of a dental practitioner will aid in the provision of enhanced dental care to these patients.

TÍTULO / TITLE:    - Oral Health of Down Syndrome Adults in Bosnia and Herzegovina.

REVISTA / JOURNAL:    - Mater Sociomed. 2016 Dec;28(6):437-439. doi: 10.5455/msm.2016.28.437-439.

Enlace a la Editora de la Revista http://dx.doi.org/10.5455/msm.2016.28.437-439

AUTORES / AUTHORS: - Porovic S; et al.

INSTITUCIÓN / INSTITUTION: - Public Health Center of Sarajevo Canton, Department of Preventive and Pediatric Dentistry, Sarajevo, Bosnia and Herzegovina.  

RESUMEN / SUMMARY: - INTRODUCTION: The objective of this study was to determine the oral health condition Down syndrome (DS) adults in Bosnia and Herzegovina, by analyzing oral health of Down syndrome individuals in two largest regions, Sarajevo and Tuzla Canton. PATIENTS AND METHODS: Caries and oral health status of 33 Down syndrome adults aged 19-45 years were examined and assessed according WHO 1997 criteria. RESULTS: The mean DMFT index is 15,96+/-8,08. The analysis of oral hygiene of Down syndrome children by using the debris index, is found that 42,4% have very good oral hygiene, 21,2% respondents have good oral hygiene, 27,3% are with poor oral hygiene, while the very poor hygiene have 9,1% subjects. The Value of CPI index is 0,82.

DERMATOLOGY - DERMATOLOGÍA

TÍTULO / TITLE:    - Siragusa M; Happle R

REVISTA / JOURNAL:    -

AUTORES / AUTHORS: -

INSTITUCIÓN / INSTITUTION: - Unit of Dermatology, Oasi Institute for Research on Mental Retardation and Brain Aging (IRCCS), 94018 - Troina (EN), Italy.  

RESUMEN / SUMMARY: -

EAR/NASAL - OTORRINOLARINGOLOGÍA

TÍTULO / TITLE:    - Characterization of Sleep Architecture in Down Syndrome Patients Pre and Post Airway Surgery.

REVISTA / JOURNAL:    - Cureus. 2017 Jan 17;9(1):e983. doi: 10.7759/cureus.983.

Enlace a la Editora de la Revista http://dx.doi.org/10.7759/cureus.983

AUTORES / AUTHORS: - Mims M; et al

INSTITUCIÓN / INSTITUTION: - Otolaryngology, UPMC. Otolaryngology, Children’s Hospital of Pittsburgh  

RESUMEN / SUMMARY: - OBJECTIVES: To define obstructive sleep architecture patterns in Down syndrome (DS) children as well as changes to sleep architecture patterns postoperatively. STUDY DESIGN: The study was a retrospective review. METHODS: Forty-five pediatric DS patients who underwent airway surgery between 2003 and 2014 at a tertiary children’s hospital for obstructive sleep apnea (OSA) were investigated. Postoperative changes in respiratory parameters and sleep architecture (SA) were assessed and compared to general pediatric normative data using paired t-tests and Wilcoxon signed-rank test. RESULTS: Twenty-two out of 45 of the participants were male. Thirty participants underwent tonsillectomy and adenoidectomy, four adenoidectomy, 10 tonsillectomy, and one base of tongue reduction. The patients were divided into two groups based on age (<6 years & >6 years) and compared to previously published age matched normative SA data. DS children in both age groups spent significantly less time than controls in rapid eye movement (REM) and N1 (p<0.02). Children younger than six spent significantly less time in N2 than previously published healthy controls (p<0.0001). Children six years of age or older spent more time than controls in N3 (p=0.003). Airway surgery did not significantly alter SA except for an increase in time spent in N1 (p=0.007). Surgery did significantly reduce median apnea hypopnea index (AHI) (p=0.004), obstructive apnea-hypopnea index (OAHI) (p=0.006), hypopneas (p=0.005), total apneas (p<0.001), and central apneas (p=0.02), and increased the lowest oxygen saturation (p=0.028). CONCLUSIONS: DS children are a unique population with different SA patterns than the general pediatric population. Airway intervention assists in normalizing both central and obstructive events as well as sleep architecture stages.

TÍTULO / TITLE:    - Effect of airflow and material models on tissue displacement for surgical planning of pharyngeal

REVISTA / JOURNAL:    - J Mech Behav Biomed Mater. 2017 Mar 8;71:122-135. doi: 10.1016/j.jmbbm.2017.03.007.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.jmbbm.2017.03.007

AUTORES / AUTHORS: - Subramaniam DR; shott SR, Gutmark et al

INSTITUCIÓN / INSTITUTION: - Department of Aerospace Engineering and Engineering Mechanics, University of Cincinnati, Cincinnati, OH, USA; Department of Otolaryngology - Head and Neck Surgery, University of Cincinnati Medical Center, Cincinnati, OH, USA.   ephraim.gutmark@uc.edu

RESUMEN / SUMMARY: - Pharyngeal narrowing in obstructive sleep apnea (OSA) results from flow-induced displacement of soft tissue. The objective of this study is to evaluate the effect of airflow parameters and material model on soft tissue displacement for planning surgical treatment in pediatric patients with OSA and Down syndrome (DS). Anatomically accurate, three-dimensional geometries of the pharynx and supporting tissue were reconstructed for one pediatric OSA patient with DS using magnetic resonance images. Six millimeters of adenoid tissue was virtually removed based on recommendations from the surgeon, to replicate the actual adenoidectomy. Computational simulations of flow-induced obstruction of the pharynx during inspiration were performed using patient-specific values of tissue elasticity for pre and post-operative airways. Sensitivity of tissue displacement to selection of turbulence model, variation in inspiratory airflow, nasal airway resistance and choice of non-linear material model was evaluated. The displacement was less sensitive to selection of turbulence model (10% difference) and more sensitive to airflow rate (20% difference) and nasal resistance (30% difference). The sensitivity analysis indicated that selection of Neo-Hookean, Yeoh, Mooney-Rivlin or Gent models would result in identical tissue displacements (less than 1% difference) for the same flow conditions. Change in pharyngeal airway resistance between the rigid and collapsible models was nearly twice for the pre-operative case as compared to the post-operative scenario. The tissue strain at the site of obstruction in the velopharyngeal airway was lowered by approximately 84% following surgery. Inclusion of tissue elasticity resulted in better agreement with the actual surgical outcome compared to a rigid wall assumption, thereby emphasizing the importance of pharyngeal compliance for guiding treatment in pediatric OSA patients.

ENDOCRINOLOGY/NUTRITION - ENDOCRINOLOGÍA/NUTRICIÓN

TÍTULO / TITLE:    - Thyroid dysfunction in patients with Down syndrome: Results from a multi-institutional registry study.

REVISTA / JOURNAL:    - Am J Med Genet A. 2017 Mar 23. doi: 10.1002/ajmg.a.38219.

Enlace a la Editora de la Revista http://dx.doi.org/10.1002/ajmg.a.38219

AUTORES / AUTHORS: - Lavigne J; Skotko BG et al.

INSTITUCIÓN / INSTITUTION: - Down Syndrome Program, Division of Developmental Medicine, Department of Medicine, Boston Children’s Hospital, Boston, Massachusetts.  

RESUMEN / SUMMARY: - The goals of this undertaking were to assess the outcomes of thyroid screening tests and adherence to thyroid screening guidelines across five Down syndrome (DS) specialty clinics in various states. Data related to thyroid screening were collected for 663 individuals across five clinics specializing in the comprehensive care of individuals with DS for a period of 1 year. Of the 663 participants, 47.7% of participants had a TSH and free T4 ordered at their DS specialty clinic visit. Approximately 19.0% (60/316) had a new thyroid disorder diagnosis made. We conclude that a sizable proportion of the patients with DS are not up-to-date on current guidelines when they present to a DS specialty clinic, while adherence to thyroid screening guidelines helps facilitate early diagnoses. Hypothyroidism is prevalent in the population, consistent with reported literature. DS specialty clinics can help patients stay current on screening guidelines.

TÍTULO / TITLE:    - Early thyroxine treatment in Down syndrome and thyroid function later in life.

REVISTA / JOURNAL:    - Eur J Endocrinol. 2017 May;176(5):505-513. doi: 10.1530/EJE-16-0858. Epub 2017 Jan 30.

Enlace a la Editora de la Revista http://dx.doi.org/10.1530/EJE-16-0858

AUTORES / AUTHORS: - Zwaveling-Soonawala N; et al

INSTITUCIÓN / INSTITUTION: - Department of Pediatric Endocrinology   n.zwaveling@amc.uva.nl

RESUMEN / SUMMARY: - OBJECTIVE: The hypothalamus-pituitary-thyroid (HPT) axis set point develops during the fetal period and first two years of life. We hypothesized that thyroxine treatment during these first two years, in the context of a randomized controlled trial (RCT) in children with Down syndrome, may have influenced the HPT axis set point and may also have influenced the development of Down syndrome-associated autoimmune thyroiditis. METHODS: We included 123 children with Down syndrome 8.7 years after the end of an RCT comparing thyroxine treatment vs placebo and performed thyroid function tests and thyroid ultrasound. We analyzed TSH and FT4 concentrations in the subgroup of 71 children who were currently not on thyroid medication and had no evidence of autoimmune thyroiditis. RESULTS: TSH concentrations did not differ, but FT4 was significantly higher in the thyroxine-treated group than that in the placebo group (14.1 vs 13.0 pmol/L; P = 0.02). There was an increase in anti-TPO positivity, from 1% at age 12 months to 6% at age 24 months and 25% at age 10.7 years with a greater percentage of children with anti-TPO positivity in the placebo group (32%) compared with the thyroxine-treated group (18.5%) (P = 0.12). Thyroid volume at age 10.7 years (mean: 3.4 mL; range: 0.5-7.5 mL) was significantly lower (P < 0.01) compared with reference values (5.5 mL; range: 3-9 mL) and was similar in the thyroxine and placebo group. CONCLUSION: Thyroxine treatment during the first two years of life led to a mild increase in FT4 almost 9 years later on and may point to an interesting new mechanism influencing the maturing HPT axis set point. Furthermore, there was a trend toward less development of thyroid autoimmunity in the thyroxine treatment group, suggesting a protective effect of the early thyroxine treatment. Lastly, thyroid volume was low possibly reflecting Down-specific thyroid hypoplasia.

TÍTULO / TITLE:    - Endocrine Autoimmunity in Down’s Syndrome.

REVISTA / JOURNAL:    - Front Horm Res. 2017;48:133-146. doi: 10.1159/000452912. Epub 2017 Feb 28.

Enlace a la Editora de la Revista http://dx.doi.org/10.1159/000452912

AUTORES / AUTHORS: - Guaraldi F et al.

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - Since the mid 1900s, a significant increase of infectious, hematological, and autoimmune diseases has been reported in patients with Down’s syndrome (DS), independent of sex, age, family history, and exposure to other risk factors, suggesting an intrinsic alteration of the immune system. Several in vitro and in vivo studies have demonstrated alterations of both cellular and humoral immunological response mainly, although not exclusively, secondary to alterations of the expression of autoimmune regulator gene (located on chromosome 21), leading to thymic structural and functional impairments. Autoimmune thyroid disorders (i.e. Hashimoto’s thyroiditis and Graves’ disease) and type 1 diabetes mellitus are the most common autoimmune endocrine disorders associated with DS, and present with some peculiar features. The underlying etiopathogenic mechanisms and clinical significance of some mild laboratory alterations are still poorly understood. For these aspects, together with the associated multiple comorbidities and intellectual impairment - that make DS patients dependent on care givers - and in the absence of definite guidelines, disease management is very challenging and should be patient-tailored.

TÍTULO / TITLE:    - Radioactive Iodine-131 as a Definitive Treatment in Rare Association of Down Syndrome With Hyperthyroidism: A Case Report and Review of Literature.

REVISTA / JOURNAL:    - Indian J Nucl Med. 2017 Jan-Mar;32(1):19-24. doi: 10.4103/0972-3919.198458.

Enlace a la Editora de la Revista http://dx.doi.org/10.4103/0972-3919.198458

AUTORES / AUTHORS: - Khan SH;

INSTITUCIÓN / INSTITUTION: - Department of Nuclear Medicine, Sher-I-Kashmir Institute of Medical Sciences, Srinagar, Jammu and Kashmir, India.  

RESUMEN / SUMMARY: - Down syndrome characterized by trisomy of chromosome 21 is frequently associated with thyroid dysfunctions due to underlying autoimmune disorders. Hypothyroidism is the commonest thyroid dysfunction and hyperthyroidism, usually Graves’ disease, is far less common. On literature review, we came across approximately 112 cases reported so far with the first such case report in 1946. The published data from India on hyperthyroidism in Down syndrome is of three case reports. We report one such patient, an adult male of 28 years who was administered Iodine-131 as a definitive treatment after 9-10 years of initial diagnosis.

TÍTULO / TITLE:    - Feasibility of Assessing Diet with a Mobile Food Record for Adolescents and Young Adults with Down Syndrome.

REVISTA / JOURNAL:    - Nutrients. 2017 Mar 13;9(3). pii: E273. doi: 10.3390/nu9030273.

Enlace a la Editora de la Revista http://dx.doi.org/10.3390/nu9030273

AUTORES / AUTHORS: - Bathgate KE; et al.

INSTITUCIÓN / INSTITUTION: - School of Public Health, Curtin University, Perth WA 6845, Australia. Telethon Kids Institute, University of Western Australia, West Perth WA 6872, Australia.   Helen.Leonard@telethonkids.org.au

RESUMEN / SUMMARY: - Technology-based methods for assessing diet in those with disability remains largely unexplored. The aim was to assess the feasibility of assessing diet with an image-based mobile food record application (mFR) in 51 adolescents and young adults with Down syndrome (PANDs). Adherence was also assessed with the instruction to include a fiducial marker object in the before and after eating images. The PANDs sample completed a four-day mFR and results were compared with a sample of young adults from the Connecting Health and Technology study (CHAT, n = 244). Compared to the CHAT sample, PANDs participants reported more fruit (2.2 +/- 1.8 versus 1.0 +/- 0.9 serves respectively) and vegetables (2.4 +/- 1.3 versus 1.9 +/- 1.0 serves, respectively), but no differences in energy-dense nutrient-poor (EDNP) foods and beverages were observed. Compared to CHAT, PANDs participants captured fewer images with the mFR (4.9 +/- 2.3 versus 4.0 +/- 1.5 images, respectively). Adherence to the instruction to include the fiducial marker in images was lower for PANDs compared with the CHAT sample (90.3% versus 96.5%). Due to the quality of information captured in images and the high acceptability of the fiducial marker, the mFR shows great promise as a feasible method of assessing diet in adolescents and young adults with Down syndrome.

TÍTULO / TITLE:    - Characterization of Thyroid Abnormalities in a Large Cohort of Children with Down Syndrome.

REVISTA / JOURNAL:    - Horm Res Paediatr. 2017 Mar 3. doi: 10.1159/000457952.

Enlace a la Editora de la Revista http://dx.doi.org/10.1159/000457952

AUTORES / AUTHORS: - Pierce MJ et al

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - BACKGROUND/AIMS: Thyroid disease is a common comorbidity in individuals with Down syndrome (DS), but historical studies have multiple limitations. We assessed thyroid abnormalities in a large cohort of children with DS. METHODS: Retrospective records review from a single institution. Calculated prevalence of common thyroid abnormalities and associations with common comorbidities. RESULTS: Among 508 patients, 120 (24%) had a thyroid-related diagnosis, the majority having elevated thyrotropin treated with levothyroxine. A Kaplan-Meier estimate projects that 50% have thyroid disorder by adulthood, with 20% of hypothyroidism diagnosed before the age of 6 months. When tested, approximately 50% had positive antithyroid antibodies, though this rate was 100% in overt hypothyroidism. There was no association between congenital or acquired hypothyroidism and common comorbidities. CONCLUSION: Thyroid disease in DS is more common and occurs earlier than in the general population, and is often transient. Thyroid disease is unrelated to gender, obesity, or other comorbidities. Apart from overt hypothyroidism, much of hypothyroidism in DS appears unrelated to autoimmunity; we recommend checking of antithyroid antibodies only in select cases. An additional screen for thyroid disease between the newborn screen and the 6-month well-child visit will detect early cases of hypothyroidism who passed their newborn screen.

EPIDEMIOLOGY - EPIDEMIOLOGÍA

TÍTULO / TITLE:    - Estimates of live birth prevalence of children with Down syndrome in the period 1991-2015 in the Netherlands.

REVISTA / JOURNAL:    - J Intellect Disabil Res. 2017 Mar 5. doi: 10.1111/jir.12371.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/jir.12371

AUTORES / AUTHORS: - de Graaf G,Engelen JJ; et al

INSTITUCIÓN / INSTITUTION: - Department of Clinical Genetics, Research Institute Growth and Development (GROW), Maastricht University Medical Center, Maastricht, The Netherlands.  

RESUMEN / SUMMARY: - BACKGROUND: In Western countries, increasing maternal age has led to more pregnancies with a child with Down syndrome (DS). However, prenatal screening programs, diagnostic testing and termination of pregnancy influence the actual DS live birth (LB) prevalence as well. The aim of this study is to examine these factors in the Netherlands for the period 1991-2015. In our study, we establish a baseline for DS LB prevalence before non-invasive prenatal testing will be made available to all pregnant women in the Netherlands in 2017. METHODS: Full nationwide data from the Dutch cytogenetic laboratories were used to evaluate the actual DS LB prevalence. In addition, nonselective DS prevalence, which is the DS LB prevalence that would be expected in absence of termination of pregnancies, was estimated on the basis of maternal age distribution in the general population. RESULTS: Because of an increase in maternal age, nonselective DS prevalence increased from around 15.6 [95% confidence interval (CI) 13.9-17.4] per 10 000 LBs in 1991 (311 children in total) to around 22.6 (95% CI 20.3-24.9) per 10 000 in 2015 (385), the increase levelling off in recent years. Actual LB prevalence rose from around 11.6 (95% CI 10.9-12.2) per 10 000 in 1991 (230 children) to an estimated peak of 15.9 (95% CI 15.6-16.2) per 10 000 in 2002 (322), gradually decreasing since to 11.1 (95% CI 10.8-11.5) per 10 000 in 2015 (190). Reduction of DS LBs resulting from elective terminations had been fairly constant between 1995 and 2002 at around 28% and rose afterwards from 35% in 2003 to around 50% in 2015. CONCLUSIONS: In spite of expansion of antenatal screening in the Netherlands in the 1990s and early 2000s, actual DS LB prevalence increased during this period. However, after 2002, this trend reversed, probably because of informing all pregnant women about prenatal testing since 2004 and the implementation of a national screening program in 2007.

GASTROENTEROLOGY - GASTROENTEROLOGÍA

TÍTULO / TITLE:    - Congenital Vascular Malformations of the Liver: an Association With Trisomy 21.

REVISTA / JOURNAL:    - J Pediatr Gastroenterol Nutr. 2017 Mar;64(3):e82. doi: 10.1097/MPG.0000000000001506.

Enlace a la Editora de la Revista http://dx.doi.org/10.1097/MPG.0000000000001506

AUTORES / AUTHORS: - Davenport M;

INSTITUCIÓN / INSTITUTION: - Departments of Paediatric Surgery; Kings College Hospital, London, United Kingdom.  

RESUMEN / SUMMARY: -

TÍTULO / TITLE:    - Celiac disease and Down syndrome mortality: a nationwide cohort study.

REVISTA / JOURNAL:    - BMC Pediatr. 2017 Jan 31;17(1):41. doi: 10.1186/s12887-017-0801-4.

Enlace a la Editora de la Revista http://dx.doi.org/10.1186/s12887-017-0801-4

AUTORES / AUTHORS: - Ludvigsson JF; et al.

INSTITUCIÓN / INSTITUTION: - Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, 171 77, Stockholm, Sweden   jonasludvigsson@yahoo.com

RESUMEN / SUMMARY: - BACKGROUND: Individuals with Down syndrome (DS) have increased mortality and are also at increased risk of celiac disease (CD). It is unknown if CD influences mortality in DS. In this study we examined the risk of death in individuals with DS according to celiac status. METHODS: In this nationwide population-based cohort study, we first identified individuals with CD (diagnosed 1969-2008) through small intestinal biopsy report data showing villous atrophy (Marsh stage III) from Sweden’s 28 pathology departments. Celiac individuals were then matched with up to five reference individuals from the general population. In these cohorts we identified individuals with DS using International Classification of Disease codes (ICD) registered in the Swedish Patient Register (includes inpatients and hospital-based outpatients), the Medical Birth Register, and the Register of Congenital Malformations. Of 29,096 individuals with CD, 201 (0.7%) had DS compared to 124 of the 144,522 reference individuals (0.09%). Data on mortality were obtained from the Swedish Cause of Death Registry. Hazard ratios (HRs) for death were calculated using Cox regression. RESULTS: During follow-up, there were seven deaths among individuals with DS and CD (7/201, 3.5%) as compared with 14 deaths among DS individuals without a record of CD (14/124, 11.3%). Adjusting for potential confounders, CD did not influence the risk of death in DS (HR = 1.36; 95%CI = 0.33-5.59). Cardiovascular death occurred in two individuals with CD and three individuals without CD, while death from malignancy occurred in one individual with CD and two individuals without CD. CONCLUSION: While both DS and CD have been linked to increased risk of death, this study found no excess mortality in DS patients with a concurrent diagnosis of CD, however confidence intervals were wide.

GENETICS - GENÉTICA

TÍTULO / TITLE:    - Influence of prenatal EGCG treatment and Dyrk1a dosage reduction on craniofacial features associated with Down syndrome.

REVISTA / JOURNAL:    - Hum Mol Genet. 2016 Nov 15;25(22):4856-4869. doi: 10.1093/hmg/ddw309.

Enlace a la Editora de la Revista http://dx.doi.org/10.1093/hmg/ddw309

AUTORES / AUTHORS: - McElyea SD et al.

INSTITUCIÓN / INSTITUTION: - Department of Biology, Indiana University-Purdue University Indianapolis, 723 W. Michigan Street, SL306, Indianapolis, IN 46202, USA.  

RESUMEN / SUMMARY: - Trisomy 21 (Ts21) affects craniofacial precursors in individuals with Down syndrome (DS). The resultant craniofacial features in all individuals with Ts21 may significantly affect breathing, eating and speaking. Using mouse models of DS, we have traced the origin of DS-associated craniofacial abnormalities to deficiencies in neural crest cell (NCC) craniofacial precursors early in development. Hypothetically, three copies of Dyrk1a (dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A), a trisomic gene found in most humans with DS and mouse models of DS, may significantly affect craniofacial structure. We hypothesized that we could improve DS-related craniofacial abnormalities in mouse models using a Dyrk1a inhibitor or by normalizing Dyrk1a gene dosage. In vitro and in vivo treatment with Epigallocatechin-3-gallate (EGCG), a Dyrk1a inhibitor, modulated trisomic NCC deficiencies at embryonic time points. Furthermore, prenatal EGCG treatment normalized some craniofacial phenotypes, including cranial vault in adult Ts65Dn mice. Normalization of Dyrk1a copy number in an otherwise trisomic Ts65Dn mice normalized many dimensions of the cranial vault, but did not correct all craniofacial anatomy. These data underscore the complexity of the gene–phenotype relationship in trisomy and suggest that changes in Dyrk1a expression play an important role in morphogenesis and growth of the cranial vault. These results suggest that a temporally specific prenatal therapy may be an effective way to ameliorate some craniofacial anatomical changes associated with DS.

TÍTULO / TITLE:    - DYRK1A regulates Hap1-Dcaf7/WDR68 binding with implication for delayed growth in Down syndrome.

REVISTA / JOURNAL:    - Proc Natl Acad Sci U S A. 2017 Feb 14;114(7):E1224-E1233. doi: 10.1073/pnas.1614893114. Epub 2017 Ja

Enlace a la Editora de la Revista http://dx.doi.org/10.1073/pnas.1614893114

AUTORES / AUTHORS: - Xiang J; Li XJ;

INSTITUCIÓN / INSTITUTION: - Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322;   xli2@emory.edu sli@emory.edu

RESUMEN / SUMMARY: - Huntingtin-associated protein 1 (Hap1) is known to be critical for postnatal hypothalamic function and growth. Hap1 forms stigmoid bodies (SBs), unique neuronal cytoplasmic inclusions of unknown function that are enriched in hypothalamic neurons. Here we developed a simple strategy to isolate the SB-enriched fraction from mouse brain. By analyzing Hap1 immunoprecipitants from this fraction, we identified a Hap1-interacting SB component, DDB1 and CUL4 associated factor 7 (Dcaf7)/WD40 repeat 68 (WDR68), whose protein level and nuclear translocation are regulated by Hap1. Moreover, we found that Hap1 bound Dcaf7 competitively in cytoplasm with dual-specificity tyrosine phosphorylation-regulated kinase 1A (DYRK1A), a protein implicated in Down syndrome (DS). Depleting Hap1 promoted the DYRK1A-Dcaf7 interaction and increased the DYRK1A protein level. Transgenic DS mice overexpressing DYRK1A showed reduced Hap1-Dcaf7 association in the hypothalamus. Furthermore, the overexpression of DYRK1A in the hypothalamus led to delayed growth in postnatal mice, suggesting that DYRK1A regulates the Hap1-Dcaf7 interaction and postnatal growth and that targeting Hap1 or Dcaf7 could ameliorate growth retardation in DS.

TÍTULO / TITLE:    - Telomere length analysis in Down syndrome birth.

REVISTA / JOURNAL:    - Mech Ageing Dev. 2017 Mar 19;164:20-26. doi: 10.1016/j.mad.2017.03.006.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.mad.2017.03.006

AUTORES / AUTHORS: - Bhaumik P; Kumar Dey S et al;

INSTITUCIÓN / INSTITUTION: - Department of Biotechnology, School of Biotechnology and Biological Sciences. Maulana Abul Kalam Azad University of Technology, West Bengal (Formerly known as West Bengal University of Technology) BF-142, Salt Lake City, Sector I, Kolkata,   subrata.humangenetics@gmail.com

RESUMEN / SUMMARY: - Human reproductive fitness depends upon telomere chemistry. Maternal age, meiotic nondisjunction error and telomere length of mother of trisomic child are someway associated. Reports exhibiting maternal inheritance of telomere length in Down syndrome child are very scanty. To investigate this, we collected peripheral blood from 170 mothers of Down syndrome child and 186 age matched mothers of euploid child with their newly born babies. Telomere length was measured by restriction digestion - southern blotting technique. Meiotic nondisjunction error was detected by STR genotyping. Subjects are classified by age (old >35 years and young <35 years) and by meiotic error (MI and MII). Linear regression was run to explore the age - telomere length relationship in each maternal groups. The study reveals that with age, telomere erodes in length. Old MII mothers carry the shortest (p<0.001), control mothers have the longest telomere and MI lies in between. Babies from older mother have longer telomere (p<0.001) moreover; telomeres are longer in Down syndrome babies than control babies (p<0.001). To conclude, this study represents not only the relation between maternal aging and telomere length but also explore the maternal heritability of telomere length in families with Down syndrome child.

TÍTULO / TITLE:    - Differential Brain, Cognitive and Motor Profiles Associated with Partial Trisomy. Modeling Down Syndrome in Mice.

REVISTA / JOURNAL:    - Behav Genet. 2017 Feb 15. doi: 10.1007/s10519-017-9835-5.

Enlace a la Editora de la Revista http://dx.doi.org/10.1007/s10519-017-9835-5

AUTORES / AUTHORS: - Roubertoux PL; et al.

INSTITUCIÓN / INSTITUTION: - Aix Marseille University, INSERM, UMR_S 910, GMGF, TIMONE - 27 Boulevard Jean Moulin, 13005, Marseille, France.   Pierre.ROUBERTOUX@univ-amu.fr

RESUMEN / SUMMARY: - We hypothesize that the trisomy 21 (Down syndrome) is the additive and interactive outcome of the triple copy of different regions of HSA21. Because of the small number of patients with partial trisomy 21, we addressed the question in the Mouse in which three chromosomal regions located on MMU10, MMU17 and MMU16 carries almost all the HSA21 homologs. Male mice from four segmental trisomic strains covering the D21S17-ETS2 (syntenic to MMU16) were examined with an exhaustive battery of cognitive tests, motor tasks and MRI and compared with TS65Dn that encompasses D21S17-ETS2. None of the four strains gather all the impairments (measured by the effect size) of TS65Dn strain. The 152F7 strain was close to TS65Dn for motor behavior and reference memory and the three other strains 230E8, 141G6 and 285E6 for working memory. Episodic memory was impaired only in strain 285E6. The hippocampus and cerebellum reduced sizes that were seen in all the strains indicate that trisomy 21 is not only a hippocampus syndrome but that it results from abnormal interactions between the two structures.

TÍTULO / TITLE:    - Chimpanzee Down syndrome: a case study of trisomy 22 in a captive chimpanzee.

REVISTA / JOURNAL:    - Primates. 2017 Apr;58(2):267-273. doi: 10.1007/s10329-017-0597-8. Epub 2017 Feb 21.

Enlace a la Editora de la Revista http://dx.doi.org/10.1007/s10329-017-0597-8

AUTORES / AUTHORS: - Hirata S et al

INSTITUCIÓN / INSTITUTION: - Primate Research Institute, Kyoto University, Inuyama, Japan. Kumamoto Sanctuary, Wildlife Research Center, Kyoto University, 2-24 Tanaka Sekiden-cho, Sakyo, Kyoto, 606-3201, Japan.  

RESUMEN / SUMMARY: - We report a case of chimpanzee trisomy 22 in a captive-born female. Because chromosome 22 in great apes is homologous to human chromosome 21, the present case is analogous to human trisomy 21, also called Down syndrome. The chimpanzee in the present case experienced retarded growth; infantile cataract and vision problems, including nystagmus, strabismus, and keratoconus; congenital atrial septal defect; and hypodontia. All of these symptoms are common in human Down syndrome. This case was the second reported case of trisomy 22 in the chimpanzee. The chimpanzee in our case became blind by 7 years old, making social life with other chimpanzees difficult, but opportunities to interact with other conspecific individuals have been offered routinely. We believe that providing her with the best care over the course of her life will be essential.

GROWTH/DEVELOPMENT - CRECIMIENTO/DESARROLLO

TÍTULO / TITLE:    - Comparison of body adiposity index (BAI) and air displacement plethysmograph with estimations of % body fat in adults with Down’s syndrome.

REVISTA / JOURNAL:    - Eur J Clin Nutr. 2017 Mar 15. doi: 10.1038/ejcn.2017.18.

Enlace a la Editora de la Revista http://dx.doi.org/10.1038/ejcn.2017.18

AUTORES / AUTHORS: - Rossato M; et al

INSTITUCIÓN / INSTITUTION: - Faculdade de Educacao Fisica e Fisioterapia, Universidade Federal do Amazonas, Manaus, Brazil.;  

RESUMEN / SUMMARY: - BACKGROUND/OBJECTIVES: The aim of this study was to verify the agreement between body fat percentage (%BF) values evaluated by air displacement plethysmograph (ADP) and body adiposity index (BAI) in adults with Down’s syndrome (DS). SUBJECTS/METHODS: Forty-five adults with DS volunteered to participate in this study (19 women; age 28.7+/-8.5 years and 26 men; age 29.1+/-8.8 years). The %BF was measured by ADP (%BFADP) and estimated by anthropometric measures [%BF=(hip circumference/height)1.5-18] (%BFBAI). Agreement between methods was evaluated by paired t-test, Pearson’s correlation coefficient and Bland-Altman analysis. RESULTS: Although high correlation coefficients were found between %BFADP and %BFBAI for women (r=0.78, P<0.05) and men (r=0.87, P<0.05), significant differences were observed between methods for both sexes (38.9+/-8.9 vs 42.5+/-8.5% for women, and 25.8+/-11.3 vs 32.6+/-5.4% for men in %BFADP and %BFBAI, respectively). Moreover, Bland-Altman analysis showed that the mean error estimate was +3.6 (95%CI, -7.59 to 14.79) in women and +6.74 (95%CI, -7.25 to 20.72) in men. CONCLUSIONS: The results indicate that BAI seems to be a limited method to evaluate %BF in women and in men with DS.European Journal of Clinical Nutrition advance online publication, 15 March 2017; doi:10.1038/ejcn.2017.18.

TÍTULO / TITLE:    - Growth charts for Brazilian children with Down syndrome: Birth to 20 years of age.

REVISTA / JOURNAL:    - J Epidemiol. 2017 Mar 17. pii: S0917-5040(17)30043-6. doi: 10.1016/j.je.2016.06.009.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.je.2016.06.009

AUTORES / AUTHORS: - Bertapelli F; et al.

INSTITUCIÓN / INSTITUTION: - CAPES Foundation, Ministry of Education of Brazil, Brazil; Growth and Development Lab, Center for Investigation in Pediatrics, Faculty of Medical Sciences, University of Campinas, Brazil.   fbertapelli@gmail.com

RESUMEN / SUMMARY: - BACKGROUND: The growth of youth with Down syndrome (DS) differs from that of youth without DS, and growth charts specific to DS have been developed. However, little is known about the growth of Brazilian youth with DS. The objective of this study was to construct growth charts for Brazilian youth with DS and compare the growth data with the Child Growth Standards of the World Health Organization (WHO) and charts for children with DS from other studies. METHODS: Mixed longitudinal and cross-sectional data were collected at University of Campinas, 48 specialized centers for people with intellectual disabilities, and two foundations for people with DS between 2012 and 2015. A total of 10,516 growth measurements from birth to 20 years of age were available from 938 youth with DS (53.7% boys) born between 1980 and 2013. The Lambda Mu Sigma method was applied to construct the curves using generalized additive models for location, scale, and shape. RESULTS: Length/height-for-age, weight-for-age, and head circumference-for-age percentile curves were generated for Brazilian boys and girls from birth to 20 years of age. Differences in growth of Brazilian youth ranged from -0.8 to -3.2 z-scores compared to WHO standards, and -1.9 to +1.3 compared to children with DS in other studies. CONCLUSIONS: These specific growth charts may guide clinicians and families in monitoring the growth of Brazilian children and adolescents with DS.

HEMATOLOGY/ONCOLOGY - HEMATOLOGÍA/ONCOLOGÍA

TÍTULO / TITLE:    - Monocyte Chemoattractant Protein-1 (MCP-1) as a Potential Therapeutic Target and a Noninvasive Biomarker of Liver Fibrosis Associated With Transient Myeloproliferative Disorder in Down Syndrome.

REVISTA / JOURNAL:    - J Pediatr Hematol Oncol. 2017 Mar 6. doi: 10.1097/MPH.0000000000000809.

Enlace a la Editora de la Revista http://dx.doi.org/10.1097/MPH.0000000000000809

AUTORES / AUTHORS: - Kobayashi K;

INSTITUCIÓN / INSTITUTION: - Departments of *Pediatrics paragraph signPediatric Surgery #Diagnostic Pathology, Hyogo Prefectural Amagasaki General Medical Center, Hyogo Departments of daggerPediatric Hematology and Oncology Research double daggerPathology, National Res  

RESUMEN / SUMMARY: - Liver fibrosis is one of the common complications of transient myeloproliferative disorder (TMD) in Down syndrome (DS), but the exact molecular pathogenesis is largely unknown. We herein report a neonate of DS with liver fibrosis associated with TMD, in which we performed the serial profibrogenic cytokines analyses. We found the active monocyte chemoattractant protein-1 expression in the affected liver tissue and also found that both serum and urinary monocyte chemoattractant protein-1 concentrations are noninvasive biomarkers of liver fibrosis. We also showed a prospective of the future anticytokine therapy with herbal medicine for the liver fibrosis associated with TMD in DS.

TÍTULO / TITLE:    - Disulfiram overcomes bortezomib and cytarabine resistance in Down-syndrome-associated acute myeloid leukemia cells.

REVISTA / JOURNAL:    - J Exp Clin Cancer Res. 2017 Feb 1;36(1):22. doi: 10.1186/s13046-017-0493-5.

Enlace a la Editora de la Revista http://dx.doi.org/10.1186/s13046-017-0493-5

AUTORES / AUTHORS: - Bista R; et al

INSTITUCIÓN / INSTITUTION: - Institute of Molecular Medicine at Phoenix Children’s Hospital, Phoenix, AZ, USA.   ealeem@email.arizona.edu

RESUMEN / SUMMARY: - BACKGROUND: Children with Down syndrome (DS) have increased risk for developing AML (DS-AMKL), and they usually experience severe therapy-related toxicities compared to non DS-AMKL. Refractory/relapsed disease has very poor outcome, and patients would benefit from novel, less toxic, therapeutic strategies that overcome resistance. Relapse/resistance are linked to cancer stem cells with high aldehyde dehydrogenase (ALDH) activity. The purpose of the present work was to study less toxic alternative therapeutic agents for relapsed/refractory DS-AMKL. METHODS: Fourteen AML cell lines including the DS-AMKL CMY and CMK from relapsed/refractory AML were used. Cytarabine (Ara-C), bortezomib (BTZ), disulfiram/copper (DSF/Cu2+) were evaluated for cytotoxicity, depletion of ALDH-positive cells, and resistance. BTZ-resistant CMY and CMK variants were generated by continuous BTZ treatment. Cell viability was assessed using CellTiter-Glo®, ALDH activity by ALDELUORTM, and proteasome inhibition by western blot of ubiquitinated proteins and the Proteasome-Glo Chymotrypsin-Like (CT-like) assay, apoptosis by Annexin V Fluos/Propidium iodide staining, and mutations were detected using PCR, cloning and sequencing. RESULTS: Ara-C-resistant AML cell lines were sensitive to BTZ and DSF/Cu2+. The Ara-C-resistant DS-AMKL CMY cells had a high percentage of ALDHbright “stem-like” populations that may underlie Ara-C resistance. One percent of these cells were still resistant to BTZ but sensitive to DSF/Cu2+. To understand the mechanism of BTZ resistance, BTZ resistant (CMY-BR) and (CMK-BR) were generated. A novel mutation PSMB5 Q62P underlied BTZ resistance, and was associated with an overexpression of the beta5 proteasome subunit. BTZ-resistance conferred increased resistance to Ara-C due to G1 arrest in the CMY-BR cells, which protected the cells from S-phase damage by Ara-C. CMY-BR and CMK-BR cells were cross-resistant to CFZ and MG-132 but sensitive to DSF/Cu2+. In this setting, DSF/Cu2+ i

TÍTULO / TITLE:    - Cytokine Profiles in Pericardial Effusion in a Down Syndrome Infant with Transient Abnormal Myelopoiesis.

REVISTA / JOURNAL:    - Tohoku J Exp Med. 2017;241(2):149-153. doi: 10.1620/tjem.241.149.

Enlace a la Editora de la Revista http://dx.doi.org/10.1620/tjem.241.149

AUTORES / AUTHORS: - Shitara Y; et al.

INSTITUCIÓN / INSTITUTION: - Department of Pediatrics, The University of Tokyo Hospital.  

RESUMEN / SUMMARY: - Infants with Down Syndrome (DS) are at risk of developing a transient abnormal myelopoiesis (TAM). TAM is characterised by increased circulating blast cells but usually self-limiting. DS patients with TAM sometimes show fetal hydrops and effusion in body cavities, but the mechanism remains unclear. We report here a case of infant with DS who had pericardial effusion, TAM, and eosinophilia. In her pericardial effusion, white blood cell count was 6.0 x 103/microL, 41% of which were eosinophils. After administration of prednisolone, pericardial effusion gradually decreased, and TAM and eosinophilia improved. In order to elucidate the immunological mechanism, we measured the levels of 17 cytokines in her pericardial effusion fluid and serum. In her pericardial fluid, there were high levels of 12 cytokines, and they were higher than those in her serum. In particular, IL-6 (44,573 pg/mL), IL-8 (4,865 pg/mL), and IL-13 (579.41 pg/mL) were at extremely high levels in her pericardial fluid. After administration of prednisolone, the levels of 8 of the 12 elevated cytokines in her pericardial fluid decreased and all of the elevated cytokines decreased in her serum. Corticosteroids can be effective to reduce cytokine levels and the amount of effusion in patients with DS. It is presumed that effusion seen in DS with TAM could be related to an abnormal production of cytokines at the effusion site.

TÍTULO / TITLE:    - Descriptive study of the complete blood count in newborn infants with Down syndrome.

REVISTA / JOURNAL:    - Am J Med Genet A. 2017 Apr;173(4):897-904. doi: 10.1002/ajmg.a.38097. Epub 2017 Feb 7.

Enlace a la Editora de la Revista http://dx.doi.org/10.1002/ajmg.a.38097

AUTORES / AUTHORS: - Martinez-Macias FJ; et al.

INSTITUCIÓN / INSTITUTION: - Department of Molecular Biology and Genomics, Dr. Enrique Corona-Rivera Institute of Human Genetics, University of Guadalajara, Health Sciences University Center, Guadalajara, Jalisco, Mexico.  

RESUMEN / SUMMARY: - The usefulness of the complete blood count (CBC) during the first week of life in infants with Down syndrome (DS) has been recognized; however, studies are limited and have evaluated only some of the parameters of the CBC. Here, we report a prospective study of 135 infants with cytogenetically confirmed DS and a reference group of 226 infants without birth defects all born during the period 2009-2015 at the Dr. Juan I. Menchaca Civil Hospital of Guadalajara (Guadalajara, Mexico). The goal was to evaluate hematological findings in the CBC during the first 7 days of life, interpreted according to gestational and postnatal age. Data were analyzed using multivariate logistic regression analysis expressed as adjusted odds ratio (aORs) with 95% confidence intervals (95% CIs). Infants with DS had a significantly higher risk for polycythemia (aOR = 12.4, 95% CI: 4.6-33.3), macrocytosis (aOR = 15.9, 95% CI: 1.8-143.4), high values of mean corpuscular hemoglobin (aOR = 36.4, 95% CI: 4.5-294.9), anisocytosis (red blood cells of unequal size) (aOR = 3.9, 95% CI: 2.1-7.6), thrombocytopenia (aOR = 32.4, 95% CI: 15.2-68.9), white blood cell (WBC) count >/=30 x 103 /microl (aOR = 19.4, 95% CI: 4.1-91.5), lymphocytosis (aOR = 73.3, 95% CI: 9.5-565.4), and basophilia (aOR = 16.8, 95% CI: 1.9-151.5). Overall, 74% of infants with DS in our study had polycythemia, thrombocytopenia, WBC count >30 x 103 /microl, or lymphocytosis (aOR = 35.6, 95% CI: 18.8-79.2). Compared with those in other studies, our infants with DS had distinctive hematological findings including a lower frequency of thrombocytopenia, infrequent neutrophilia, and frequent lymphocytosis and neutropenia. This suggests ethnic, socioeconomic, or nutritional differences. © 2017 Wiley Periodicals, Inc.

INFECTIOUS DISEASES - INFECCIONES

TÍTULO / TITLE:    - Declining antibody levels after hepatitis B vaccination in Down syndrome: a need for booster vaccination?

REVISTA / JOURNAL:    - J Med Virol. 2017 Mar 21. doi: 10.1002/jmv.24813.

Enlace a la Editora de la Revista http://dx.doi.org/10.1002/jmv.24813

AUTORES / AUTHORS: - Eijsvoogel NB; et al

INSTITUCIÓN / INSTITUTION: - Department of Pediatrics, Jeroen Bosch Hospital, ‘s-Hertogenbosch, The Netherlands.  

RESUMEN / SUMMARY: - We determined the anti-HBs titer in 227 children of all ages with Down syndrome (DS). Only 48.1% (95% CI: 35.1-61.3) of the DS children aged 7-10 years and 31.9% (95% CI: 22.1-43.6) of the DS children aged >10 years had a protective anti-HBs titer (>/=10 IU/l). The geometric mean anti-HBs titer was significantly lower in the DS children; this suggests booster vaccination for HBV may be needed. This article is protected by copyright. All rights reserved.

TÍTULO / TITLE:    - Age-related alterations of the CD19 complex and memory B cells in children with Down syndrome.

REVISTA / JOURNAL:    - Clin Exp Med. 2017 Feb 14. doi: 10.1007/s10238-017-0457-2.

Enlace a la Editora de la Revista http://dx.doi.org/10.1007/s10238-017-0457-2

AUTORES / AUTHORS: - Seckin AN; Artac H; et al

INSTITUCIÓN / INSTITUTION: - Department of Pediatric Immunology and Allergy, Selcuk University Medical Faculty, Alaeddin Keykubat Kampusu, 42131, Konya, Turkey.   hasibeartac@yahoo.com

RESUMEN / SUMMARY: - Children with Down syndrome (DS) have a high incidence of recurrent respiratory tract infections, leukaemia and autoimmune disorders, suggesting immune dysfunction. The present study evaluated the role of the CD19 complex and memory B cells in the pathogenesis of immunodeficiency in children with DS. The expression levels (median fluorescein intensity-MFI) of CD19, CD21 and CD81 molecules on the surface of B cells and memory B cell subsets were studied in 37 patients and 39 healthy controls. Twenty-nine of the DS group had congenital cardiac disease. The B cell count was significantly low in children with DS compared with healthy age-matched controls for all three age groups (under 2 years; 2-6 years and older than 6 years). The MFI of CD19 was reduced in all the age groups, whereas that of CD21 was increased in those older than 2 years with DS. The expression level of CD81 was significantly increased in those older than 6 years. Age-related changes were also detected in memory B cell subsets. The frequency of CD27+IgD+IgM+ natural effector B cells was reduced in children with DS who had needed hospitalisation admission due to infections. The observed intrinsic defects in B cells may be responsible for the increased susceptibility of children with DS to severe respiratory tract infections.

TÍTULO / TITLE:    - Endocrine Autoimmunity in Down’s Syndrome.

REVISTA / JOURNAL:    - Front Horm Res. 2017;48:133-146. doi: 10.1159/000452912. Epub 2017 Feb 28.

Enlace a la Editora de la Revista http://dx.doi.org/10.1159/000452912

AUTORES / AUTHORS: - Guaraldi F et al.

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - Since the mid 1900s, a significant increase of infectious, hematological, and autoimmune diseases has been reported in patients with Down’s syndrome (DS), independent of sex, age, family history, and exposure to other risk factors, suggesting an intrinsic alteration of the immune system. Several in vitro and in vivo studies have demonstrated alterations of both cellular and humoral immunological response mainly, although not exclusively, secondary to alterations of the expression of autoimmune regulator gene (located on chromosome 21), leading to thymic structural and functional impairments. Autoimmune thyroid disorders (i.e. Hashimoto’s thyroiditis and Graves’ disease) and type 1 diabetes mellitus are the most common autoimmune endocrine disorders associated with DS, and present with some peculiar features. The underlying etiopathogenic mechanisms and clinical significance of some mild laboratory alterations are still poorly understood. For these aspects, together with the associated multiple comorbidities and intellectual impairment - that make DS patients dependent on care givers - and in the absence of definite guidelines, disease management is very challenging and should be patient-tailored.

MOLECULAR BIOLOGY/BIOCHEMISTRY - BIOLOGÍA MOLECULAR/BIOQUÍMICA

TÍTULO / TITLE:    - Mutational spectrum of CENP-B box and alpha-satellite DNA on chromosome 21 in Down syndrome children.

REVISTA / JOURNAL:    - Mol Med Rep. 2017 Apr;15(4):2313-2317. doi: 10.3892/mmr.2017.6247. Epub 2017 Feb 24.

Enlace a la Editora de la Revista http://dx.doi.org/10.3892/mmr.2017.6247

AUTORES / AUTHORS: - Chen Q; et al

INSTITUCIÓN / INSTITUTION: - Department of Obstetrics and Gynecology, The First Affiliated Hospital of Chongqing Medical University, Chongqing 400016, P.R. China.  

RESUMEN / SUMMARY: - The centromere is responsible for the correct inheritance of eukaryotic chromosomes during cell division. Centromere protein B (CENPB) and its 17 base pair binding site (CENPB box), which appears at regular intervals in centromeric alpha-satellite DNA (alpha-satDNA), are important for the assembly of the centromere components. Therefore, it is conceivable that CENP-B box mutations may induce errors in cell division. However, the association between the deoxynucleotide alterations of the CENPB box and the extra chromosome 21 (Chr21) present in patients with Down syndrome (DS) remains to be elucidated. The mutational spectrum of the alphasatDNA, including 4 functional CENPB boxes in Chr21 from 127 DS and 100 healthy children were analyzed by direct sequencing. The de novo occurrences of mutations within CENPB boxes in patients with DS were excluded. The prevalence of 6 novel mutations (g.661delC, g.1035_1036insA, g.1076_1077insC, g.670T>G, g.1239A>T, g.1343T>C) and 3 single nucleotide polymorphisms (g.727C/T, g.863A/C, g.1264C/G) were not significantly different between DS and controls (P>0.05). However, g.525C/G (P=0.01), g.601T/C (P=0.00000002), g.1279A/G (P=0.002), g.1294C/T (P=0.0006) and g.1302 G/T (P=0.004) were significantly associated with the prevalence of DS (P<0.05). The results indicated that CENPB boxes are highly conserved in DS patients and may not be responsible for Chr21 nondisjunction events. However, alphasatDNA in Chr21 is variable and deoxynucleotide deletions, mutations and polymorphisms may act as potential molecular diagnostic markers of DS.

NEUROBIOLOGY - NEUROBIOLOGÍA

TÍTULO / TITLE:    - Short-term treatment with flumazenil restores long-term object memory in a mouse model of Down syndrome.

REVISTA / JOURNAL:    - Neurobiol Learn Mem. 2017 Apr;140:11-16. doi: 10.1016/j.nlm.2017.02.006. Epub 2017 Feb 12.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.nlm.2017.02.006

AUTORES / AUTHORS: - Colas D; et al.

INSTITUCIÓN / INSTITUTION: - Biology Department, Stanford University, Stanford, CA 94305-5020, USA.   colas@stanford.edu

RESUMEN / SUMMARY: - Down syndrome (DS) is a common genetic cause of intellectual disability yet no pro-cognitive drug therapies are approved for human use. Mechanistic studies in a mouse model of DS (Ts65Dn mice) demonstrate that impaired cognitive function is due to excessive neuronal inhibitory tone. These deficits are normalized by chronic, short-term low doses of GABAA receptor (GABAAR) antagonists in adult animals, but none of the compounds investigated are approved for human use. We explored the therapeutic potential of flumazenil (FLUM), a GABAAR antagonist working at the benzodiazepine binding site that has FDA approval. Long-term memory was assessed by the Novel Object Recognition (NOR) testing in Ts65Dn mice after acute or short-term chronic treatment with FLUM. Short-term, low, chronic dose regimens of FLUM elicit long-lasting (>1week) normalization of cognitive function in both young and aged mice. FLUM at low dosages produces long lasting cognitive improvements and has the potential of fulfilling an unmet therapeutic need in DS.

TÍTULO / TITLE:    - Evidence that increased Kcnj6 gene dose is necessary for deficits in behavior and dentate gyrus synaptic plasticity in the Ts65Dn mouse model of Down syndrome.

REVISTA / JOURNAL:    - Neurobiol Dis. 2017 Mar 22;103:1-10. doi: 10.1016/j.nbd.2017.03.009.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.nbd.2017.03.009

AUTORES / AUTHORS: - Kleschevnikov AM; et al.

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - Down syndrome (DS), trisomy 21, is caused by increased dose of genes present on human chromosome 21 (HSA21). The gene-dose hypothesis argues that a change in the dose of individual genes or regulatory sequences on HSA21 is necessary for creating DS-related phenotypes, including cognitive impairment. We focused on a possible role for Kcnj6, the gene encoding Kir3.2 (Girk2) subunits of a G-protein-coupled inwardly-rectifying potassium channel. This gene resides on a segment of mouse Chromosome 16 that is present in one extra copy in the genome of the Ts65Dn mouse, a well-studied genetic model of DS. Kir3.2 subunit-containing potassium channels serve as effectors for a number of postsynaptic metabotropic receptors including GABAB receptors. Several studies raise the possibility that increased Kcnj6 dose contributes to synaptic and cognitive abnormalities in DS. To assess directly a role for Kcnj6 gene dose in cognitive deficits in DS, we produced Ts65Dn mice that harbor only 2 copies of Kcnj6 (Ts65Dn:Kcnj6++- mice). The reduction in Kcnj6 gene dose restored to normal the hippocampal level of Kir3.2. Long-term memory, examined in the novel object recognition test with the retention period of 24h, was improved to the level observed in the normosomic littermate control mice (2N:Kcnj6++). Significantly, both short-term and long-term potentiation (STP and LTP) was improved to control levels in the dentate gyrus (DG) of the Ts65Dn:Kcnj6++- mouse. In view of the ability of fluoxetine to suppress Kir3.2 channels, we asked if fluoxetine-treated DG slices of Ts65Dn:Kcnj6+++ mice would rescue synaptic plasticity. Fluoxetine increased STP and LTP to control levels. These results are evidence that increased Kcnj6 gene dose is necessary for synaptic and cognitive dysfunction in the Ts65Dn mouse model of DS. Strategies aimed at pharmacologically reducing channel function should be explored for enhancing cognition in DS.

TÍTULO / TITLE:    - Ts1Cje Down syndrome model mice exhibit environmental stimuli-triggered locomotor hyperactivity and sociability concurrent with increased flux through central dopamine and serotonin metabolism.

REVISTA / JOURNAL:    - Exp Neurol. 2017 Mar 20;293:1-12. doi: 10.1016/j.expneurol.2017.03.009.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.expneurol.2017.03.009

AUTORES / AUTHORS: - Shimohata A; Yamakawa Ket al.

INSTITUCIÓN / INSTITUTION: - Laboratory for Neurogenetics, RIKEN Brain Science Institute, 2-1 Hirosawa, Wako-shi, Saitama 351-0198, Japan.   yamakawa@brain.riken.jp

RESUMEN / SUMMARY: - Ts1Cje mice have a segmental trisomy of chromosome 16 that is orthologous to human chromosome 21 and display Down syndrome-like cognitive impairments. Despite the occurrence of affective and emotional impairments in patients with Down syndrome, these parameters are poorly documented in Down syndrome mouse models, including Ts1Cje mice. Here, we conducted comprehensive behavioral analyses, including anxiety-, sociability-, and depression-related tasks, and biochemical analyses of monoamines and their metabolites in Ts1Cje mice. Ts1Cje mice showed enhanced locomotor activity in novel environments and increased social contact with unfamiliar partners when compared with wild-type littermates, but a significantly lower activity in familiar environments. Ts1Cje mice also exhibited some signs of decreased depression like-behavior. Furthermore, Ts1Cje mice showed monoamine abnormalities, including increased extracellular dopamine and serotonin, and enhanced catabolism in the striatum and ventral forebrain. This study constitutes the first report of deviated monoamine metabolism that may help explain the basis for abnormal behaviors, including the environmental stimuli-triggered hyperactivity, increased sociability and decreased depression-like behavior in Ts1Cje mice.

TÍTULO / TITLE:    - The medial temporal memory system in Down syndrome: Translating animal models of hippocampal compromise.

REVISTA / JOURNAL:    - Hippocampus. 2017 Mar 27. doi: 10.1002/hipo.22724.

Enlace a la Editora de la Revista http://dx.doi.org/10.1002/hipo.22724

AUTORES / AUTHORS: - Clark CA; etal

INSTITUCIÓN / INSTITUTION: - Department of Psychology, Memory Development and Disorders Laboratory, University of Arizona, Tucson, Arizona.;  

RESUMEN / SUMMARY: - Recent studies have highlighted the dentate gyrus as a region of increased vulnerability in mouse models of Down syndrome (DS). It is unclear to what extent these findings are reflected in the memory profile of people with the condition. We developed a series of novel tasks to probe distinct medial temporal functions in children and young adults with DS, including object, spatial, and serial order memory. Relative to mental age-matched controls (n = 45), individuals with DS (n = 28) were unimpaired on subtests involving short-term object or configural recall that was divorced from spatial or temporal contexts. By contrast, the DS group had difficulty recalling spatial locations when contextual information was salient and recalling the order in which objects were serially presented. Results are consistent with dysfunction of spatial and temporal contextual pattern separation abilities in individuals with DS, mediated by the hippocampus, including the dentate gyrus. Amidst increasing calls to bridge human and animal work, the memory profile demonstrated here in humans with DS is strikingly similar to that of the Ts65Dn mouse model of DS. The study highlights the trisynaptic circuit as a potentially fruitful intervention target to mitigate cognitive impairments associated with DS.

TÍTULO / TITLE:    - Differential Brain, Cognitive and Motor Profiles Associated with Partial Trisomy. Modeling Down Syndrome in Mice.

REVISTA / JOURNAL:    - Behav Genet. 2017 Feb 15. doi: 10.1007/s10519-017-9835-5.

Enlace a la Editora de la Revista http://dx.doi.org/10.1007/s10519-017-9835-5

AUTORES / AUTHORS: - Roubertoux PL; et al.

INSTITUCIÓN / INSTITUTION: - Aix Marseille University, INSERM, UMR_S 910, GMGF, TIMONE - 27 Boulevard Jean Moulin, 13005, Marseille, France.   Pierre.ROUBERTOUX@univ-amu.fr

RESUMEN / SUMMARY: - We hypothesize that the trisomy 21 (Down syndrome) is the additive and interactive outcome of the triple copy of different regions of HSA21. Because of the small number of patients with partial trisomy 21, we addressed the question in the Mouse in which three chromosomal regions located on MMU10, MMU17 and MMU16 carries almost all the HSA21 homologs. Male mice from four segmental trisomic strains covering the D21S17-ETS2 (syntenic to MMU16) were examined with an exhaustive battery of cognitive tests, motor tasks and MRI and compared with TS65Dn that encompasses D21S17-ETS2. None of the four strains gather all the impairments (measured by the effect size) of TS65Dn strain. The 152F7 strain was close to TS65Dn for motor behavior and reference memory and the three other strains 230E8, 141G6 and 285E6 for working memory. Episodic memory was impaired only in strain 285E6. The hippocampus and cerebellum reduced sizes that were seen in all the strains indicate that trisomy 21 is not only a hippocampus syndrome but that it results from abnormal interactions between the two structures.

TÍTULO / TITLE:    - Adaptation of the Arizona Cognitive Task Battery for Use With the Ts65Dn Mouse Model (Mus musculus) of Down Syndrome.

REVISTA / JOURNAL:    - J Comp Psychol. 2017 Mar 23. doi: 10.1037/com0000069.

Enlace a la Editora de la Revista http://dx.doi.org/10.1037/com0000069

AUTORES / AUTHORS: - Hunsaker MR et al

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - We propose and validate a clear strategy to efficiently and comprehensively characterize neurobehavioral deficits in the Ts65Dn mouse model of Down syndrome. This novel approach uses neurocognitive theory to design and select behavioral tasks that test specific hypotheses concerning the results of Down syndrome. In this article, we model the Arizona Cognitive Task Battery, used to study human populations with Down syndrome, in Ts65Dn mice. We observed specific deficits for spatial memory, impaired long-term memory for visual objects, acquisition and reversal of motor responses, reduced motor dexterity, and impaired adaptive function as measured by nesting and anxiety tasks. The Ts65Dn mice showed intact temporal ordering, novelty detection, and visual object recognition with short delays. These results phenocopy the performance of participants with Down syndrome on the Arizona Cognitive Task Battery. This approach extends the utility of mouse models of Down syndrome by integrating the expertise of clinical neurology and cognitive neuroscience into the mouse behavioral laboratory. Further, by directly emphasizing the reciprocal translation of research between human disease states and the associated mouse models, we demonstrate that it is possible for both groups to mutually inform each other’s research to more efficiently generate hypotheses and elucidate treatment strategies. (PsycINFO Database Record

TÍTULO / TITLE:    - Increased Sparsity of Hippocampal CA1 Neuronal Ensembles in a Mouse Model of Down Syndrome Assayed by Arc Expression.

REVISTA / JOURNAL:    - Front Neural Circuits. 2017 Feb 3;11:6. doi: 10.3389/fncir.2017.00006. eCollection 2017.

Enlace a la Editora de la Revista http://dx.doi.org/10.3389/fncir.2017.00006

AUTORES / AUTHORS: - Smith-Hicks CL; et al

INSTITUCIÓN / INSTITUTION: - Solomon H. Snyder Department of Neuroscience, Johns Hopkins University School of Medicine Baltimore, MD, USA; Department of Neurology, Johns Hopkins University School of MedicineBaltimore, MD, USA.  

RESUMEN / SUMMARY: - Down syndrome (DS) is the leading chromosomal cause of intellectual disability, yet the neural substrates of learning and memory deficits remain poorly understood. Here, we interrogate neural networks linked to learning and memory in a well-characterized model of DS, the Ts65Dn mouse. We report that Ts65Dn mice exhibit exploratory behavior that is not different from littermate wild-type (WT) controls yet behavioral activation of Arc mRNA transcription in pyramidal neurons of the CA1 region of the hippocampus is altered in Ts65Dn mice. In WT mice, a 5 min period of exploration of a novel environment resulted in Arc mRNA transcription in 39% of CA1 neurons. By contrast, the same period of exploration resulted in only ~20% of CA1 neurons transcribing Arc mRNA in Ts65Dn mice indicating increased sparsity of the behaviorally induced ensemble. Like WT mice the CA1 pyramidal neurons of Ts65Dn mice reactivated Arc transcription during a second exposure to the same environment 20 min after the first experience, but the size of the reactivated ensemble was only ~60% of that in WT mice. After repeated daily exposures there was a further decline in the size of the reactivated ensemble in Ts65Dn and a disruption of reactivation. Together these data demonstrate reduction in the size of the behaviorally induced network that expresses Arc in Ts65Dn mice and disruption of the long-term stability of the ensemble. We propose that these deficits in network formation and stability contribute to cognitive symptoms in DS.

TÍTULO / TITLE:    - The GABAergic Hypothesis for Cognitive Disabilities in Down Syndrome.

REVISTA / JOURNAL:    - Front Cell Neurosci. 2017 Mar 7;11:54. doi: 10.3389/fncel.2017.00054. eCollection 2017.

Enlace a la Editora de la Revista http://dx.doi.org/10.3389/fncel.2017.00054

AUTORES / AUTHORS: - Contestabile A; et al

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

RESUMEN / SUMMARY: - Down syndrome (DS) is a genetic disorder caused by the presence of a third copy of chromosome 21. DS affects multiple organs, but it invariably results in altered brain development and diverse degrees of intellectual disability. A large body of evidence has shown that synaptic deficits and memory impairment are largely determined by altered GABAergic signaling in trisomic mouse models of DS. These alterations arise during brain development while extending into adulthood, and include genesis of GABAergic neurons, variation of the inhibitory drive and modifications in the control of neural-network excitability. Accordingly, different pharmacological interventions targeting GABAergic signaling have proven promising preclinical approaches to rescue cognitive impairment in DS mouse models. In this review, we will discuss recent data regarding the complex scenario of GABAergic dysfunctions in the trisomic brain of DS mice and patients, and we will evaluate the state of current clinical research targeting GABAergic signaling in individuals with DS.

OPHTALMOLOGY - OFTALMOLOGÍA

TÍTULO / TITLE:    - Variability in Objective Refraction for Persons with Down Syndrome.

REVISTA / JOURNAL:    - Optom Vis Sci. 2017 Mar 11. doi: 10.1097/OPX.0000000000001057.

Enlace a la Editora de la Revista http://dx.doi.org/10.1097/OPX.0000000000001057

AUTORES / AUTHORS: - Marsack JD; et al.

INSTITUCIÓN / INSTITUTION: - University of Houston College of Optometry, Houston, Texas (all authors); and Texas Institute for Measurement, Evaluation and Statistics, University of Houston, Houston, Texas (JSB).  

RESUMEN / SUMMARY: - PURPOSE: Down syndrome (DS) is associated with ocular and cognitive sequelae, which both have the potential to influence clinical measures of refractive error. This study compares variability of autorefraction among subjects with and without DS. METHODS: Grand Seiko autorefraction was performed on 139 subjects with DS (age: 8-55, mean: 25 +/- 9 yrs) and 138 controls (age: 7-59, mean: 25 +/- 10 yrs). Subjects with three refraction measures per eye (DS: 113, control: 136) were included for analysis. Each refraction was converted to power vector notation (M, J0, J45) and a difference in each component (DeltaM, DeltaJ0, DeltaJ45) was calculated for each refraction pairing. From these quantities, average dioptric strength (D: square root of the sum of the squares of M, J0, and J45) and average dioptric difference (DeltaD: square root of the sum of the squares of DeltaM, DeltaJ0, and DeltaJ45) were calculated. RESULTS: The DS group exhibited a greater median D (1Q: 1.38D M: 2.38D 3Q: 3.41D) than control eyes (1Q: 0.47D M: 0.96D 3Q: 2.75D) (P < .001). Likewise, the DS group exhibited a greater median DeltaD in refraction (1Q: 0.27D M: 0.42D 3Q: 0.78D) than control eyes (1Q: 0.11D M: 0.15D 3Q: 0.23D) (P < .001) with 97.1% of control eyes exhibiting DeltaD TÍTULO / TITLE:    - Visual characteristics of children with Down syndrome.

REVISTA / JOURNAL:    - Jpn J Ophthalmol. 2017 Feb 7. doi: 10.1007/s10384-017-0500-6.

Enlace a la Editora de la Revista http://dx.doi.org/10.1007/s10384-017-0500-6

AUTORES / AUTHORS: - Tomita K;

INSTITUCIÓN / INSTITUTION: - Heiwa Eye Clinic, 1-7-7 Ikebukuro, Toshima-ku, Tokyo, 170-0014, Japan.   kaorut@t.toshima.ne.jp

RESUMEN / SUMMARY: - PURPOSE: To analyze long-term visual development in children with Down syndrome who received early ophthalmological intervention. METHODS: A total of 125 children with Down syndrome who were examined before 6 years of age and followed up for more than 5 years were selected. Visual development, refraction, visual acuity testing, and the prescription of spectacles were examined retrospectively. RESULTS: Mean visual acuity by age was as follows: 2 years, 1.13 +/- 0.23 logarithm of the minimum angle of resolution (logMAR); 5 years, 0.55 +/- 0.25 logMAR; 8 years, 0.27 +/- 0.19 logMAR; 11 years, 0.17 +/- 0.16 logMAR; and 14 years, 0.10 +/- 0.15 logMAR. In 32 children (25.6%), visual acuity reached 0.0 logMAR or better. Hyperopia of +2D or more was observed in 132 eyes (52.8%), and astigmatism of 2D or more was observed in 153 eyes (61.2%). Subjective testing was difficult in many children prior to 4.5 years of age, and grating acuity testing was necessary. Spectacles were prescribed at a mean age of 3.5 +/- 1.6 years in 120 children (96.0%). The average duration until the spectacles were worn constantly was 9.0 +/- 9.3 months. CONCLUSION: Early ophthalmological intervention and longitudinal care is important for children with Down syndrome.

TÍTULO / TITLE:    - Congenital upper eyelids ectropion in Down’s syndrome.

REVISTA / JOURNAL:    - GMS Ophthalmol Cases. 2017 Feb 3;7:Doc03. doi: 10.3205/oc000054. eCollection 2017.

Enlace a la Editora de la Revista http://dx.doi.org/10.3205/oc000054

AUTORES / AUTHORS: - Corredor-Osorio R; et al

INSTITUCIÓN / INSTITUTION: - Department of Oculoplastic and Orbit, Institute of Ophthalmology, “Conde de Valenciana”, Mexico City, Mexico.  

RESUMEN / SUMMARY: - Congenital bilateral ectropion of the upper eyelids is a rare, benign condition reported in ophthalmic literature. It is more frequently associated with Down’s syndrome, ichthyosis, and sporadic cases in newborns from black population. We report three cases of congenital bilateral upper eyelid ectropion associated with Down’s syndrome. Management of these patients usually requires medial and lateral canthoplasties, full-thickness pentagonal resection of the upper eyelids and placement of skin grafts. We present herein the evolution of one of these patients and we will discuss the mechanism of the eyelid ectropion and its treatment.

PHYSIOTHERAPY - FISIOTERAPIA

TÍTULO / TITLE:    - Comparison of body adiposity index (BAI) and air displacement plethysmograph with estimations of % body fat in adults with Down’s syndrome.

REVISTA / JOURNAL:    - Eur J Clin Nutr. 2017 Mar 15. doi: 10.1038/ejcn.2017.18.

Enlace a la Editora de la Revista http://dx.doi.org/10.1038/ejcn.2017.18

AUTORES / AUTHORS: - Rossato M; et al

INSTITUCIÓN / INSTITUTION: - Faculdade de Educacao Fisica e Fisioterapia, Universidade Federal do Amazonas, Manaus, Brazil.;  

RESUMEN / SUMMARY: - BACKGROUND/OBJECTIVES: The aim of this study was to verify the agreement between body fat percentage (%BF) values evaluated by air displacement plethysmograph (ADP) and body adiposity index (BAI) in adults with Down’s syndrome (DS). SUBJECTS/METHODS: Forty-five adults with DS volunteered to participate in this study (19 women; age 28.7+/-8.5 years and 26 men; age 29.1+/-8.8 years). The %BF was measured by ADP (%BFADP) and estimated by anthropometric measures [%BF=(hip circumference/height)1.5-18] (%BFBAI). Agreement between methods was evaluated by paired t-test, Pearson’s correlation coefficient and Bland-Altman analysis. RESULTS: Although high correlation coefficients were found between %BFADP and %BFBAI for women (r=0.78, P<0.05) and men (r=0.87, P<0.05), significant differences were observed between methods for both sexes (38.9+/-8.9 vs 42.5+/-8.5% for women, and 25.8+/-11.3 vs 32.6+/-5.4% for men in %BFADP and %BFBAI, respectively). Moreover, Bland-Altman analysis showed that the mean error estimate was +3.6 (95%CI, -7.59 to 14.79) in women and +6.74 (95%CI, -7.25 to 20.72) in men. CONCLUSIONS: The results indicate that BAI seems to be a limited method to evaluate %BF in women and in men with DS.European Journal of Clinical Nutrition advance online publication, 15 March 2017; doi:10.1038/ejcn.2017.18.

TÍTULO / TITLE:    - Effect of isokinetic training on muscle strength and postural balance in children with Down’s syndrome.

REVISTA / JOURNAL:    - Int J Rehabil Res. 2017 Jan 31. doi: 10.1097/MRR.0000000000000218.

Enlace a la Editora de la Revista http://dx.doi.org/10.1097/MRR.0000000000000218

AUTORES / AUTHORS: - Eid MA;

INSTITUCIÓN / INSTITUTION: - Department of Physical Therapy, College of Applied Medical Sciences bDepartment of Pediatrics, College of Medicine, Najran University, Najran, Saudi Arabia cDepartment of Physical Therapy For Disturbances of Growth and Development in Childr  

RESUMEN / SUMMARY: - Children with Down’s syndrome (DS) often have greater postural sway and delay in motor development. Muscle weakness and hypotonia, particularly of the lower extremities, are theorized to impair their overall physical health and ability to perform daily activities. Therefore, the aim of this study was to investigate the effects of isokinetic training on muscle strength and postural balance in children with DS. Thirty-one children with DS ranging in age from 9 to 12 years were assigned randomly into two groups. The control group received the conventional physical therapy, whereas the study group received the same therapy as the control group in addition to the isokinetic training 3 days a week for 12 weeks. Measurement of stability indices using the Biodex Stability System as well as peak torque of knee flexors and extensors of both sides using the isokinetic dynamometer was performed before and after 12 weeks of the treatment program. Each group showed significant improvements in postural balance and peak torque of knee flexors and extensors (P<0.05), with significantly greater improvements observed in the study group compared with the control group (P<0.05). These outcomes indicated that participation in the isokinetic training program induced greater improvements in muscle strength and postural balance in children with DS.

TÍTULO / TITLE:    - Analysis of Reach-to-Grasp by School-Aged Children with Down Syndrome Elucidates Limitations in Upper Extremity Motor Control.

REVISTA / JOURNAL:    - Phys Occup Ther Pediatr. 2017 Feb 3:1-15. doi: 10.1080/01942638.2016.1261979.

Enlace a la Editora de la Revista http://dx.doi.org/10.1080/01942638.2016.1261979

AUTORES / AUTHORS: - Valvano J; et al

INSTITUCIÓN / INSTITUTION: - a Department of Physical Medicine and Rehabilitation , School of Medicine, University of Colorado Denver , Aurora , Colorado , USA  

RESUMEN / SUMMARY: - AIMS: To identify limitations in preparatory planning (PP) and movement execution that constrain performance of reach-to-grasp (RTG) movements in school-aged children with Down syndrome (DS) and examine the effect of chronological age (CA) on performance. METHODS: Nine children with DS ages 6 to 12 years and nine with typical development (TD) participated in this pilot descriptive study. Three-dimensional kinematic analysis was applied to RTG movements performed in the context of two functional tasks. RESULTS: PP variables focused on the coordination of reach and grasp. Compared to the group with TD, the group with DS demonstrated significant limitations in anticipatory slowing down of hand transport and orientation of the hand in preparation for object contact. There was also relatively late onset of preparatory grip formation in the group with DS. In regard to movement execution, reach trajectories of the group with DS showed significantly greater deviation from the straight path. Correlations of study variables with CA were low and insignificant in both groups. CONCLUSIONS: Motor control mechanisms that mediate both PP and execution of the fundamental RTG movement are potential factors limiting upper extremity activity in school-aged children with DS. They should be addressed in future intervention-based research.

TÍTULO / TITLE:    - A comparison of the balance and gait function between children with Down syndrome and typically developing children.

REVISTA / JOURNAL:    - J Phys Ther Sci. 2017 Jan;29(1):123-127. doi: 10.1589/jpts.29.123. Epub 2017 Jan 30.

Enlace a la Editora de la Revista http://dx.doi.org/10.1589/jpts.29.123

AUTORES / AUTHORS: - Jung HK; et al

INSTITUCIÓN / INSTITUTION: - Graduate School of Physical Therapy, Sahmyook University, Republic of Korea.  

RESUMEN / SUMMARY: - [Purpose] The purpose of this study was to compare the balance and gait functions of children with Down syndrome and typically developing children according to age. [Subjects and Methods] The subjects were 16 children with Down syndrome and 20 children with typical development. The one leg standing test, Romberg’s test (open eyes/closed eyes), sharpened Romberg’s (open eyes/closed eyes), functional reaching test and GAITRite were used for this study in order to measure the children’s balance and gait function. [Results] The results of this study showed that static-dynamic balance ability, spatio-temporal gait parameters and quality of life were statistically and significantly different in Down syndrome children compared to typically developing children. [Conclusion] These results suggest that the balance and gait ability of typically developing children improves during growth, whereas those of children with Down syndrome remain low despite independent gait. Therefore, constant therapeutic intervention for balance and gait function is necessary after independent gait development in Down syndrome children.

TÍTULO / TITLE:    - Motor and Cognitive Developmental Profiles in Children With Down Syndrome.

REVISTA / JOURNAL:    - Ann Rehabil Med. 2017 Feb;41(1):97-103. doi: 10.5535/arm.2017.41.1.97. Epub 2017 Feb 28.

Enlace a la Editora de la Revista http://dx.doi.org/10.5535/arm.2017.41.1.97

AUTORES / AUTHORS: - Kim HI et al.

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - OBJECTIVE: To investigate motor and cognitive developmental profiles and to evaluate the correlation between two developmental areas and assess the influencing factors of the developmental process in children with Down syndrome (DS). METHODS: Seventy-eight children with DS participated in this study. The medical history was taken and motoric milestone achievements recorded. The Korean Wechsler Preschool and Primary Scale of Intelligence (K-WPPSI) and Bayley Scales of Infant Development-II (BSID-II) were administered. Subjects were divided into severe motor delay group (severe group) and typical motor delay group (typical group). RESULTS: Children with DS follow the same sequence of motor development and generally displayed double times of acquisition of developmental milestones compared with healthy children. Furthermore, having surgery for associated complications showed negative influence to the motor development. Almost of all children with DS showed moderate degree of intellectual disability and motor and cognitive development do not seem to correlate one another. CONCLUSION: Surgery of associated complications can be negatively related to motor development. However, early motor development did not have any significant effects on the achievement of later cognitive functioning.

PRENATAL DIAGNOSIS - DIAGNÓSTICO

TÍTULO / TITLE:    - Study of the extent of information desired by women undergoing non-invasive prenatal testing following positive prenatal Down-syndrome screening test results.

REVISTA / JOURNAL:    - Int J Gynaecol Obstet. 2017 Mar 12. doi: 10.1002/ijgo.12146.

Enlace a la Editora de la Revista http://dx.doi.org/10.1002/ijgo.12146

AUTORES / AUTHORS: - Lo TK; et al.

INSTITUCIÓN / INSTITUTION: - Department of Obstetrics and Gynecology, Princess Margaret Hospital, Hong Kong, China.  

RESUMEN / SUMMARY: -

TÍTULO / TITLE:    - Use of a patient decision aid for prenatal screening for Down syndrome: what do pregnant women say?

REVISTA / JOURNAL:    - BMC Pregnancy Childbirth. 2017 Mar 20;17(1):90. doi: 10.1186/s12884-017-1273-0.

Enlace a la Editora de la Revista http://dx.doi.org/10.1186/s12884-017-1273-0

AUTORES / AUTHORS: - Portocarrero ME; Legare et al.

INSTITUCIÓN / INSTITUTION: - Population Health and Practice-Changing Research Group, CHU de Quebec Research Centre, Quebec, Canada   France.Legare@mfa.ulaval.ca

RESUMEN / SUMMARY: - Patient decision aids (PtDAs) help people make difficult, values-sensitive decisions. Prenatal screening for assessing the risk of genetic conditions in the fetus is one such decision and patient decision aids are rarely used in this clinical context. We sought to identify factors influencing pregnant women’s use of a patient decision aid for deciding about prenatal screening for Down syndrome (DS). METHODS: This qualitative study was embedded in a sequential mixed-methods research program whose main aim is to implement shared decision-making (SDM) in the context of prenatal screening for DS in the province of Quebec, Canada. We planned to recruit a purposive sample of 45 pregnant women with low-risk pregnancy consulting for prenatal care at three clinical sites. Participating women watched a video depicting a prenatal care follow-up during which a pregnant woman, her partner and a health professional used a PtDA to decide about prenatal screening for DS. The women were then interviewed about factors that would influence the use of this PtDA using questions based on the Theoretical Domains Framework (TDF). We performed content analysis of transcribed verbatim interviews. RESULTS: Out of 216 eligible women, 100 agreed to participate (46% response rate) and 46 were interviewed. Regarding the type of health professional responsible for their prenatal care, 19 participants (41%) reported having made a decision about prenatal screening for DS with an obstetrician-gynecologist, 13 (28%) with a midwife, 12 (26%) with a family physician, and two (4%) decided on their own. We identified 54 factors that were mapped onto nine of the 12 TDF domains. The three most frequently-mentioned were: opinion of the pregnant woman’s partner (n = 33, 72%), presentation of the PtDA by health professional and a discussion (n = 27, 72%), and not having encountered a PtDA (n = 26, 57%). CONCLUSION: This study allowed us to identify factors influencing pregnant women’s use of a PtDA for prenata

PSYCHIATRY - PSIQUIATRÍA

TÍTULO / TITLE:    - Developmental Regression, Depression, and Psychosocial Stress in an Adolescent with Down Syndrome.

REVISTA / JOURNAL:    - J Dev Behav Pediatr. 2017 Feb/Mar;38 Suppl 1:S26-S28. doi: 10.1097/DBP.0000000000000401.

Enlace a la Editora de la Revista http://dx.doi.org/10.1097/DBP.0000000000000401

AUTORES / AUTHORS: - Stein DS; etal

INSTITUCIÓN / INSTITUTION: - Developmental Medicine Center, Boston Children’s Hospital, Harvard Medical School, Boston, MA; and daggerDepartment of Pediatrics, University of California, San Diego, San Diego, CA.  

RESUMEN / SUMMARY: - CASE: Kristen is a 13-year-old girl with Down syndrome (DS) who was seen urgently with concerns of cognitive and developmental regression including loss of language, social, and toileting skills. The evaluation in the DS clinic focused on potential medical diagnoses including atlantoaxial joint instability, vitamin deficiency, obstructive sleep apnea (OSA), and seizures. A comprehensive medical evaluation yielded only a finding of moderate OSA. A reactive depression was considered in association with several psychosocial factors including moving homes, entering puberty/onset of menses, and classroom change from an integrated setting to a self- contained classroom comprising unfamiliar peers with behavior challenges. Urgent referrals for psychological and psychiatric evaluations were initiated. Neuropsychological testing did not suggest true regression in cognitive, language, and academic skills, although decreases in motivation and performance were noted with a reaction to stress and multiple environmental changes as a potential causative factor. Psychiatry consultation supported this finding in that psychosocial stress temporally correlated with Kristen’s regression in skills. Working collaboratively, the team determined that Kristen’s presentation was consistent with a reactive form of depression (DSM-IV-TR: depressive disorder, not otherwise specified). Kristen’s presentation was exacerbated by salient environmental stress and sleep apnea, rather than a cognitive regression associated with a medical cause. Treatment consisted of an antidepressant medication, continuous positive airway pressure for OSA, and increased psychosocial supports. Her school initiated a change in classroom placement. With this multimodal approach to evaluation and intervention, Kristen steadily improved and she returned to her baseline function.

TÍTULO / TITLE:    - Emotion Recognition in Children With Down Syndrome: Influence of Emotion Label and Expression Intensity.

REVISTA / JOURNAL:    - Am J Intellect Dev Disabil. 2017 Mar;122(2):138-155. doi: 10.1352/1944-7558-122.2.138.

Enlace a la Editora de la Revista http://dx.doi.org/10.1352/1944-7558-122.2.138

AUTORES / AUTHORS: - Cebula KR;Katie R. Cebula, University of Edinburgh, School of Education. Wishart JG;Jennifer G. Wishart, University of Edinburgh. Willis DS;Diane S. Willis, Edinburgh Napier University; and. Pitcairn TK;Tom K. Pitcairn, formerly of University of

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - Some children with Down syndrome may experience difficulties in recognizing facial emotions, particularly fear, but it is not clear why, nor how such skills can best be facilitated. Using a photo-matching task, emotion recognition was tested in children with Down syndrome, children with nonspecific intellectual disability and cognitively matched, typically developing children (all groups N = 21) under four conditions: veridical vs. exaggerated emotions and emotion-labelling vs. generic task instructions. In all groups, exaggerating emotions facilitated recognition accuracy and speed, with emotion labelling facilitating recognition accuracy. Overall accuracy and speed did not differ in the children with Down syndrome, although recognition of fear was poorer than in the typically developing children and unrelated to emotion label use. Implications for interventions are considered.

QUALITY OF LIFE - CALIDAD DE VIDA

TÍTULO / TITLE:    - Cardiovascular and general health status of adults with Trisomy 21.

REVISTA / JOURNAL:    - Int J Cardiol. 2017 Mar 10. pii: S0167-5273(16)32518-9. doi: 10.1016/j.ijcard.2017.03.040.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.ijcard.2017.03.040

AUTORES / AUTHORS: - Hayes SA; Yetman et al.

INSTITUCIÓN / INSTITUTION: - University of Nebraska and Children’s Hospital & Medical Center, Omaha, NE, United States.   ayetman@childrensomaha.org

RESUMEN / SUMMARY: - BACKGROUND: Patients with Trisomy 21 are now living well into adulthood. Little data exists to assist the cardiologist in the care of these patients. We sought to examine the cardiac and general health status of adults with Trisomy 21 undergoing cardiac evaluation. METHODS & RESULTS: A retrospective review of all affected adults >21years followed at 2 tertiary care institutions was performed. Of 193 patients identified, median age was 31 (range 21.1-60.5) years. Cardiac surgery was performed in childhood in 127 with 30 patients who did not undergo surgery developing Eisenmenger syndrome. The remaining 36 patients did not warrant early surgical intervention. Six patients were lost to follow-up. Significant cardiac residua were present in 117 (62%). Arrhythmias were present in 53 (28%) with 15 having atrial fibrillation (8%). Non-cardiac comorbidities were common and included sleep apnea, pulmonary hypertension, thyroid dysfunction, thromboses and recurrent infections. Hospitalization in adulthood occurred in 58 patients (51%); pneumonia and cardiac related surgeries being the most common reasons for hospitalization. Average age of death (n=23) was 39.8+/-8.5years. Transition of care to an adult provider was uncommon occurring in 54 (27%) patients. On multivariate analysis, presence of younger age and absence of pulmonary hypertension were the sole predictors of survival for the group as a whole, as well as those patients without Eisenmenger syndrome. CONCLUSIONS: Adults with Trisomy 21 have frequent cardiac and non-cardiac co-morbidities. Cardiologists caring for these patients should be familiar with the adult acquired medical problems these patients encounter.

TÍTULO / TITLE:    - Disparities in Health Supervision for Children With Down Syndrome.

REVISTA / JOURNAL:    - Clin Pediatr (Phila). 2017 Jan 1:9922816685817. doi: 10.1177/0009922816685817.

Enlace a la Editora de la Revista http://dx.doi.org/10.1177/0009922816685817

AUTORES / AUTHORS: - Williams K;et al

INSTITUCIÓN / INSTITUTION: - 1 American Family Children’s Hospital, Madison, WI, USA.;  

RESUMEN / SUMMARY: - Increasing evidence suggests children with Down syndrome do not receive recommended health care services. We retrospectively assessed adherence to the 2001 American Academy of Pediatrics health supervision guidelines for 124 children with Down syndrome. Cervical spine radiographs were completed for 94% of children, often preoperatively. Adherence to complete blood count recommendations was 55% (95% CI 44% to 66%); lower for males ( P = .01) and children with private medical insurance ( P = .04). Adherence to thyroid function recommendations was 61% (95% CI 54% to 67%); higher for children seen by a pediatrician ( P = .002) and with known thyroid disease ( P < .0001). Adherence to audiology and ophthalmology recommendations was 33% (95% CI 27% to 40%) and 43% (95% CI 37% to 50%), respectively. Adherence rates were higher for children referred to an otolaryngologist ( P = .0002) and with known eye disease ( P < .0001). Future efforts should identify barriers to care and improve adherence to recommended screening.

TÍTULO / TITLE:    - Feasibility of Assessing Diet with a Mobile Food Record for Adolescents and Young Adults with Down Syndrome.

REVISTA / JOURNAL:    - Nutrients. 2017 Mar 13;9(3). pii: E273. doi: 10.3390/nu9030273.

Enlace a la Editora de la Revista http://dx.doi.org/10.3390/nu9030273

AUTORES / AUTHORS: - Bathgate KE; et al.

INSTITUCIÓN / INSTITUTION: - School of Public Health, Curtin University, Perth WA 6845, Australia. Telethon Kids Institute, University of Western Australia, West Perth WA 6872, Australia.   Helen.Leonard@telethonkids.org.au

RESUMEN / SUMMARY: - Technology-based methods for assessing diet in those with disability remains largely unexplored. The aim was to assess the feasibility of assessing diet with an image-based mobile food record application (mFR) in 51 adolescents and young adults with Down syndrome (PANDs). Adherence was also assessed with the instruction to include a fiducial marker object in the before and after eating images. The PANDs sample completed a four-day mFR and results were compared with a sample of young adults from the Connecting Health and Technology study (CHAT, n = 244). Compared to the CHAT sample, PANDs participants reported more fruit (2.2 +/- 1.8 versus 1.0 +/- 0.9 serves respectively) and vegetables (2.4 +/- 1.3 versus 1.9 +/- 1.0 serves, respectively), but no differences in energy-dense nutrient-poor (EDNP) foods and beverages were observed. Compared to CHAT, PANDs participants captured fewer images with the mFR (4.9 +/- 2.3 versus 4.0 +/- 1.5 images, respectively). Adherence to the instruction to include the fiducial marker in images was lower for PANDs compared with the CHAT sample (90.3% versus 96.5%). Due to the quality of information captured in images and the high acceptability of the fiducial marker, the mFR shows great promise as a feasible method of assessing diet in adolescents and young adults with Down syndrome.

TÍTULO / TITLE:    - Chimpanzee Down syndrome: a case study of trisomy 22 in a captive chimpanzee.

REVISTA / JOURNAL:    - Primates. 2017 Apr;58(2):267-273. doi: 10.1007/s10329-017-0597-8. Epub 2017 Feb 21.

Enlace a la Editora de la Revista http://dx.doi.org/10.1007/s10329-017-0597-8

AUTORES / AUTHORS: - Hirata S et al

INSTITUCIÓN / INSTITUTION: - Primate Research Institute, Kyoto University, Inuyama, Japan. Kumamoto Sanctuary, Wildlife Research Center, Kyoto University, 2-24 Tanaka Sekiden-cho, Sakyo, Kyoto, 606-3201, Japan.  

RESUMEN / SUMMARY: - We report a case of chimpanzee trisomy 22 in a captive-born female. Because chromosome 22 in great apes is homologous to human chromosome 21, the present case is analogous to human trisomy 21, also called Down syndrome. The chimpanzee in the present case experienced retarded growth; infantile cataract and vision problems, including nystagmus, strabismus, and keratoconus; congenital atrial septal defect; and hypodontia. All of these symptoms are common in human Down syndrome. This case was the second reported case of trisomy 22 in the chimpanzee. The chimpanzee in our case became blind by 7 years old, making social life with other chimpanzees difficult, but opportunities to interact with other conspecific individuals have been offered routinely. We believe that providing her with the best care over the course of her life will be essential.

RESPIRATORY - RESPIRATORIO

TÍTULO / TITLE:    - Characterization of Sleep Architecture in Down Syndrome Patients Pre and Post Airway Surgery.

REVISTA / JOURNAL:    - Cureus. 2017 Jan 17;9(1):e983. doi: 10.7759/cureus.983.

Enlace a la Editora de la Revista http://dx.doi.org/10.7759/cureus.983

AUTORES / AUTHORS: - Mims M; et al

INSTITUCIÓN / INSTITUTION: - Otolaryngology, UPMC. Otolaryngology, Children’s Hospital of Pittsburgh  

RESUMEN / SUMMARY: - OBJECTIVES: To define obstructive sleep architecture patterns in Down syndrome (DS) children as well as changes to sleep architecture patterns postoperatively. STUDY DESIGN: The study was a retrospective review. METHODS: Forty-five pediatric DS patients who underwent airway surgery between 2003 and 2014 at a tertiary children’s hospital for obstructive sleep apnea (OSA) were investigated. Postoperative changes in respiratory parameters and sleep architecture (SA) were assessed and compared to general pediatric normative data using paired t-tests and Wilcoxon signed-rank test. RESULTS: Twenty-two out of 45 of the participants were male. Thirty participants underwent tonsillectomy and adenoidectomy, four adenoidectomy, 10 tonsillectomy, and one base of tongue reduction. The patients were divided into two groups based on age (<6 years & >6 years) and compared to previously published age matched normative SA data. DS children in both age groups spent significantly less time than controls in rapid eye movement (REM) and N1 (p<0.02). Children younger than six spent significantly less time in N2 than previously published healthy controls (p<0.0001). Children six years of age or older spent more time than controls in N3 (p=0.003). Airway surgery did not significantly alter SA except for an increase in time spent in N1 (p=0.007). Surgery did significantly reduce median apnea hypopnea index (AHI) (p=0.004), obstructive apnea-hypopnea index (OAHI) (p=0.006), hypopneas (p=0.005), total apneas (p<0.001), and central apneas (p=0.02), and increased the lowest oxygen saturation (p=0.028). CONCLUSIONS: DS children are a unique population with different SA patterns than the general pediatric population. Airway intervention assists in normalizing both central and obstructive events as well as sleep architecture stages.

TÍTULO / TITLE:    - Upper Airway Reflexes are Preserved During Dexmedetomidine Sedation in Children With Down Syndrome and Obstructive Sleep Apnea.

REVISTA / JOURNAL:    - J Clin Sleep Med. 2017 Feb 20. pii: jc-00387-16.

AUTORES / AUTHORS: -

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - STUDY OBJECTIVES: The assessment of pharyngeal collapsibility is difficult to perform in children under normal sleep. An alternative is to perform the assessment under an anesthetic, such as dexmedetomidine (DEX), that induces non-rapid eye movement (NREM) sleep. The objectives of this study were to compare critical closing airway pressure (Pcrit) obtained during natural sleep to that obtained under DEX in patients with Down syndrome (DS) and persistent obstructive sleep apnea (OSA) and determine whether Pcrit measured under sedation predicts the severity of OSA. METHODS: The passive and active Pcrit, which represent airway passive mechanical properties and active dynamic responses to airway obstruction, respectively, were measured. Upper airway reflex activity was estimated by calculating the difference between active and passive Pcrit. Subjects underwent overnight polysomnography during which Pcrit was measured during normal sleep. Pcrit was also measured during DEX sedation at a dose of 2 mug/kg/h. RESULTS: The study included 50 patients with median age of 11.4 years (interquartile range: 7.0-13.9) and median body mass index of 23.0 kg/m2 (interquartile range: 18.4-29.1), 66% male and 80% Caucasian. Passive Pcrit was significantly higher than active Pcrit when measured during normal sleep and DEX-induced sleep. There was a positive association between apnea-hypopnea index and passive Pcrit (Spearman r = 0.53, P = .0001) and active Pcrit (r = 0.55, P = .0002) under DEX-induced sleep. There were no significant differences between the Pcrit measurements during natural sleep and during DEX sedation. CONCLUSION: Patients with OSA can compensate for airway obstruction under DEX-induced sleep. The close association between Pcrit and apnea-hypopnea index suggests that airway responses with DEX sedation parallel those seen during natural sleep. CLINICAL TRIAL REGISTRATION: ClinicalTrials.gov identifier:

SURGERY - CIRUGÍA

TÍTULO / TITLE:    - Sedation methods for transthoracic echocardiography in children with Trisomy 21-a retrospective study.

REVISTA / JOURNAL:    - Paediatr Anaesth. 2017 May;27(5):531-539. doi: 10.1111/pan.13120. Epub 2017 Feb 8.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/pan.13120

AUTORES / AUTHORS: - Miller J et al.

INSTITUCIÓN / INSTITUTION: - Division of Biostatistics & Epidemiology, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, USA.  

RESUMEN / SUMMARY: - BACKGROUND: Many children with Trisomy 21 have neurologic or behavioral problems that make it difficult for them to remain still during noninvasive imaging studies, such as transthoracic echocardiograms (TTEcho). Recently, intranasal dexmedetomidine sedation has been introduced for this purpose. However, dexmedetomidine has been associated with bradycardia. Children with Trisomy 21 have been reported to have a higher risk of bradycardia and airway obstruction with sedation or anesthesia compared to children without Trisomy 21. OBJECTIVE: Our aim was to quantify the incidence of age-defined bradycardia and other adverse effects in patients with Trisomy 21 under sedation for TTEcho using a variety of sedation and anesthesia techniques available and utilized at our institution in this challenging patient population, including intranasal dexmedetomidine, oral pentobarbital, general anesthesia with propofol, and general anesthesia with sevoflurane. Our primary hypothesis was that intranasal dexmedetomidine sedation would result in a significantly higher risk of bradycardia in patients with Trisomy 21, compared with other sedative or anesthetic regimens. METHODS: This is a retrospective, observational study of 147 consecutive patients with Trisomy 21 who were sedated or anesthetized for transthoracic echocardiography. Efficacy of sedation was defined as no need for rescue sedation or conversion to an alternate technique. Lowest and highest heart rate, systolic blood pressure, oxygen saturation, and PR interval from formal electrocardiograms were extracted from the electronic medical record. These data were compared to age-defined normal values to determine adverse events. RESULTS: Four methods of sedation or anesthesia were utilized to perform sedated transthoracic echocardiography: general anesthesia with sevoflurane by mask, general anesthesia with sevoflurane induction followed by intravenous propofol maintenance, oral pentobarbital, and intranasal dexmedetomidine. Int

TÍTULO / TITLE:    - Upper Airway Reflexes are Preserved During Dexmedetomidine Sedation in Children With Down Syndrome and Obstructive Sleep Apnea.

REVISTA / JOURNAL:    - J Clin Sleep Med. 2017 Feb 20. pii: jc-00387-16.

AUTORES / AUTHORS: -

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - STUDY OBJECTIVES: The assessment of pharyngeal collapsibility is difficult to perform in children under normal sleep. An alternative is to perform the assessment under an anesthetic, such as dexmedetomidine (DEX), that induces non-rapid eye movement (NREM) sleep. The objectives of this study were to compare critical closing airway pressure (Pcrit) obtained during natural sleep to that obtained under DEX in patients with Down syndrome (DS) and persistent obstructive sleep apnea (OSA) and determine whether Pcrit measured under sedation predicts the severity of OSA. METHODS: The passive and active Pcrit, which represent airway passive mechanical properties and active dynamic responses to airway obstruction, respectively, were measured. Upper airway reflex activity was estimated by calculating the difference between active and passive Pcrit. Subjects underwent overnight polysomnography during which Pcrit was measured during normal sleep. Pcrit was also measured during DEX sedation at a dose of 2 mug/kg/h. RESULTS: The study included 50 patients with median age of 11.4 years (interquartile range: 7.0-13.9) and median body mass index of 23.0 kg/m2 (interquartile range: 18.4-29.1), 66% male and 80% Caucasian. Passive Pcrit was significantly higher than active Pcrit when measured during normal sleep and DEX-induced sleep. There was a positive association between apnea-hypopnea index and passive Pcrit (Spearman r = 0.53, P = .0001) and active Pcrit (r = 0.55, P = .0002) under DEX-induced sleep. There were no significant differences between the Pcrit measurements during natural sleep and during DEX sedation. CONCLUSION: Patients with OSA can compensate for airway obstruction under DEX-induced sleep. The close association between Pcrit and apnea-hypopnea index suggests that airway responses with DEX sedation parallel those seen during natural sleep. CLINICAL TRIAL REGISTRATION: ClinicalTrials.gov identifier:

THERAPEUTICS - TERAPÉUTICA

TÍTULO / TITLE:    - Sedation methods for transthoracic echocardiography in children with Trisomy 21-a retrospective study.

REVISTA / JOURNAL:    - Paediatr Anaesth. 2017 May;27(5):531-539. doi: 10.1111/pan.13120. Epub 2017 Feb 8.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/pan.13120

AUTORES / AUTHORS: - Miller J et al.

INSTITUCIÓN / INSTITUTION: - Division of Biostatistics & Epidemiology, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, USA.  

RESUMEN / SUMMARY: - BACKGROUND: Many children with Trisomy 21 have neurologic or behavioral problems that make it difficult for them to remain still during noninvasive imaging studies, such as transthoracic echocardiograms (TTEcho). Recently, intranasal dexmedetomidine sedation has been introduced for this purpose. However, dexmedetomidine has been associated with bradycardia. Children with Trisomy 21 have been reported to have a higher risk of bradycardia and airway obstruction with sedation or anesthesia compared to children without Trisomy 21. OBJECTIVE: Our aim was to quantify the incidence of age-defined bradycardia and other adverse effects in patients with Trisomy 21 under sedation for TTEcho using a variety of sedation and anesthesia techniques available and utilized at our institution in this challenging patient population, including intranasal dexmedetomidine, oral pentobarbital, general anesthesia with propofol, and general anesthesia with sevoflurane. Our primary hypothesis was that intranasal dexmedetomidine sedation would result in a significantly higher risk of bradycardia in patients with Trisomy 21, compared with other sedative or anesthetic regimens. METHODS: This is a retrospective, observational study of 147 consecutive patients with Trisomy 21 who were sedated or anesthetized for transthoracic echocardiography. Efficacy of sedation was defined as no need for rescue sedation or conversion to an alternate technique. Lowest and highest heart rate, systolic blood pressure, oxygen saturation, and PR interval from formal electrocardiograms were extracted from the electronic medical record. These data were compared to age-defined normal values to determine adverse events. RESULTS: Four methods of sedation or anesthesia were utilized to perform sedated transthoracic echocardiography: general anesthesia with sevoflurane by mask, general anesthesia with sevoflurane induction followed by intravenous propofol maintenance, oral pentobarbital, and intranasal dexmedetomidine. Int

TÍTULO / TITLE:    - Epigallocatechin gallate: A useful therapy for cognitive disability in Down syndrome?

REVISTA / JOURNAL:    - Neurogenesis (Austin). 2017 Feb 2;4(1):e1270383. doi: 10.1080/23262133.2016.1270383. eCollection 201

Enlace a la Editora de la Revista http://dx.doi.org/10.1080/23262133.2016.1270383

AUTORES / AUTHORS: - Stagni F; Bartesaghi R et al

INSTITUCIÓN / INSTITUTION: - Department of Biomedical and Neuromotor Sciences, University of Bologna , Bologna, Italy.  

RESUMEN / SUMMARY: - Neurodevelopmental alterations and cognitive disability are constant features of Down syndrome (DS), a genetic condition due to triplication of chromosome 21. DYRK1A is one of the triplicated genes that is thought to be strongly involved in brain alterations. Treatment of Dyrk1A transgenic mice with epigallocatechin gallate (EGCG), an inhibitor of DYRK1A, improves cognitive performance, suggesting that EGCG may represent a suitable treatment of DS. Evidence in the Ts65Dn mouse model of DS shows that EGCG restores hippocampal development, although this effect is ephemeral. Other studies, however, show no effects of treatment on hippocampus-dependent memory. On the other hand, a pilot study in young adults with DS shows that EGCG transiently improves some aspects of memory. Interestingly, EGCG plus cognitive training engenders effects that are more prolonged. Studies in various rodent models show a positive impact of EGCG on brain and behavior, but other studies show no effect. In spite of these discrepancies, possibly due to heterogeneity of protocols/timing/species, EGCG seems to exert some beneficial effects on the brain. It is possible that protocols of periodic EGCG administration to individuals with DS (alone or in conjunction with other treatments) may prevent the disappearance of its effects.

EDUCATION - EDUCACIÓN

TÍTULO / TITLE:    - Response abilities of children with Down Syndrome and other intellectual developmental disorders.

REVISTA / JOURNAL:    - Exp Brain Res. 2017 May;235(5):1411-1427. doi: 10.1007/s00221-017-4889-4. Epub 2017 Feb 24.

Enlace a la Editora de la Revista http://dx.doi.org/10.1007/s00221-017-4889-4

AUTORES / AUTHORS: - Rao PT, Guddattu V; Solomon JM;

INSTITUCIÓN / INSTITUTION: - Department of Physiotherapy, School of Allied Health Sciences, Manipal University,, Manipal, Karnataka, 576104, India.  

RESUMEN / SUMMARY: - Efficiency with which a task is performed results from the precise timing and force with which the task is executed. We aimed at assessing the influence of change in task constructs on the response abilities of children who are known to have impaired perceptual motor control. To answer this question, we assessed the response abilities in terms of response time(RT) and response force(RF) among children with Down Syndrome(DS), intellectual developmental disorders(IDD) and those who are typically developing. A response analyzer was used to assess their response abilities across a variety of task constructs namely while performing a simple response task, dual task (i.e. passive and active dual tasks), force modulation task and choice response task. Across all tasks, it was seen that their RT increased while RF decreased as the tasks became more complex in nature. The number of participants in the DS and IDD group diminished as the task complexity increased, reflecting their inherent difficulty in learning new tasks and executing a common expected response under different task conditions. The response abilities of the DS and IDD group was comparable across tasks and varied significantly from the TDC group. The study enables us to understand the influence of task difficulties on the response abilities and participation across groups of children with and without disabilities. The results of the study necessitate the need to evaluate and find methods to train the response abilities of children with DS and IDD, which has considerable implications towards the performance of their daily life skills.

TÍTULO / TITLE:    - The medial temporal memory system in Down syndrome: Translating animal models of hippocampal compromise.

REVISTA / JOURNAL:    - Hippocampus. 2017 Mar 27. doi: 10.1002/hipo.22724.

Enlace a la Editora de la Revista http://dx.doi.org/10.1002/hipo.22724

AUTORES / AUTHORS: - Clark CA; etal

INSTITUCIÓN / INSTITUTION: - Department of Psychology, Memory Development and Disorders Laboratory, University of Arizona, Tucson, Arizona.;  

RESUMEN / SUMMARY: - Recent studies have highlighted the dentate gyrus as a region of increased vulnerability in mouse models of Down syndrome (DS). It is unclear to what extent these findings are reflected in the memory profile of people with the condition. We developed a series of novel tasks to probe distinct medial temporal functions in children and young adults with DS, including object, spatial, and serial order memory. Relative to mental age-matched controls (n = 45), individuals with DS (n = 28) were unimpaired on subtests involving short-term object or configural recall that was divorced from spatial or temporal contexts. By contrast, the DS group had difficulty recalling spatial locations when contextual information was salient and recalling the order in which objects were serially presented. Results are consistent with dysfunction of spatial and temporal contextual pattern separation abilities in individuals with DS, mediated by the hippocampus, including the dentate gyrus. Amidst increasing calls to bridge human and animal work, the memory profile demonstrated here in humans with DS is strikingly similar to that of the Ts65Dn mouse model of DS. The study highlights the trisynaptic circuit as a potentially fruitful intervention target to mitigate cognitive impairments associated with DS.

TÍTULO / TITLE:    - Language comprehension in children, adolescents, and adults with Down syndrome.

REVISTA / JOURNAL:    - Res Dev Disabil. 2017 Mar;62:184-196. doi: 10.1016/j.ridd.2017.01.014. Epub 2017 Feb 7.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.ridd.2017.01.014

AUTORES / AUTHORS: - Witecy B; Penke M;

INSTITUCIÓN / INSTITUTION: - Department of Special Education and Rehabilitation, University of Cologne, Cologne, Germany.   bwitecy@uni-koeln.de

RESUMEN / SUMMARY: - There is conflicting evidence as to whether receptive language abilities of individuals with Down syndrome (DS) continue to improve into adulthood, reach a plateau in late adolescence, or even start to decline. AIM: The study aims to shed light on the question whether receptive syntactic skills change from childhood/adolescence to adulthood and provides a detailed qualitative analysis of the receptive abilities of adults with DS. METHODS: 58 individuals with DS participated in the study: 31 children/adolescents (aged: 4;6-19;0 years) and 27 adults (aged: 20;8-40;3 years). They completed measures of grammar comprehension, nonverbal cognition, and phonological working memory. RESULTS: There was no significant correlation between comprehension performance and chronological age in the overall sample. Separate correlational analyses for the subgroups of children/adolescents and adults yielded a significant positive result for the former subgroup but not for the latter. We also found significant positive correlations between grammar comprehension scores and nonverbal mental age as well as measures of phonological working memory. Qualitative analyses showed various limitations in the receptive syntactic abilities of adults with DS. Difficulties increase with sentence length and grammatical complexity, but are also apparent in simple sentences. CONCLUSION: The results suggest that syntactic comprehension abilities of individuals with DS continue to improve through childhood and adolescence and that thereafter a plateau is reached and maintained. Language comprehension in adults with DS is impaired for a variety of grammatical structures and receptive performance seems to be related to nonverbal cognitive abilities, phonological working memory, and grammatical complexity.

TÍTULO / TITLE:    - Signaling of noncomprehension in communication breakdowns in fragile X syndrome, Down syndrome, and autism spectrum disorder.

REVISTA / JOURNAL:    - J Commun Disord. 2017 Jan - Feb;65:22-34. doi: 10.1016/j.jcomdis.2017.01.003. Epub 2017 Jan 26.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.jcomdis.2017.01.003

AUTORES / AUTHORS: - Martin GE; et al

INSTITUCIÓN / INSTITUTION: - Department of Communication Sciences and Disorders, St. John’s University, Staten Island, NY, USA.   marting@stjohns.edu

RESUMEN / SUMMARY: - The ability to indicate a failure to understand a message is a critical pragmatic (social) language skill for managing communication breakdowns and supporting successful communicative exchanges. The current study examined the ability to signal noncomprehension across different types of confusing message conditions in children and adolescents with fragile X syndrome (FXS), Down syndrome (DS), autism spectrum disorder (ASD), and typical development (TD). Controlling for nonverbal mental age and receptive vocabulary skills, youth with comorbid FXS and ASD and those with DS were less likely than TD controls to signal noncomprehension of confusing messages. Youth with FXS without ASD and those with idiopathic ASD did not differ from controls. No sex differences were detected in any group. Findings contribute to current knowledge of pragmatic profiles in different forms of genetically-based neurodevelopmental disorders associated with intellectual disability, and the role of sex in the expression of such profiles. LEARNING OUTCOMES: Upon completion of this article, readers will have learned about: (1) the social-communicative profiles of youth with FXS, DS, and ASD, (2) the importance of signaling noncomprehension in response to a confusing message, and (3) the similarities and differences in noncomprehension signaling in youth with FXS (with and without ASD), DS, idiopathic ASD, and TD.

TÍTULO / TITLE:    - Visuo-spatial knowledge acquisition in individuals with Down syndrome: The role of descriptions and sketch maps.

REVISTA / JOURNAL:    - Res Dev Disabil. 2017 Apr;63:46-58. doi: 10.1016/j.ridd.2017.02.013. Epub 2017 Mar 6.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.ridd.2017.02.013

AUTORES / AUTHORS: - Meneghetti C; et al

INSTITUCIÓN / INSTITUTION: - Department of General Psychology, University of Padova, Italy.   chiara.meneghetti@unipd.it

RESUMEN / SUMMARY: - Few studies on individuals with Down syndrome (DS) have explored how they learn space. The present study examines space learning from verbal descriptions in individuals with DS, and explores the role of external cues (such as a sketch map). Twenty-eight individuals with DS and 28 matched typically-developing (TD) children listened to route or survey descriptions with or without seeing a corresponding sketch map (Description+Sketch Map [D+SM] and Description alone [D], respectively). After hearing each description, they performed tasks that involved recognizing, arranging sequentially, and locating landmarks. The results showed that individuals with DS performed less well in recognizing landmarks and arranging them sequentially. The D+SM condition produced general benefits in both groups’ accuracy, though the improvement in locating landmarks was greater in the TD than in the DS group. In both groups, the D+SM condition prompted a better performance than the D condition when participants arranged landmarks sequentially after hearing a description from a route perspective, but not from a survey perspective. Overall, our results show that individuals with DS benefited when a spatial description was associated with a corresponding sketch map, albeit to a lesser degree than TD children. The findings are discussed in the light of the literature on DS and on spatial cognition in the TD domain.

TÍTULO / TITLE:    - Emotion Recognition in Children With Down Syndrome: Influence of Emotion Label and Expression Intensity.

REVISTA / JOURNAL:    - Am J Intellect Dev Disabil. 2017 Mar;122(2):138-155. doi: 10.1352/1944-7558-122.2.138.

Enlace a la Editora de la Revista http://dx.doi.org/10.1352/1944-7558-122.2.138

AUTORES / AUTHORS: - Cebula KR;Katie R. Cebula, University of Edinburgh, School of Education. Wishart JG; Jennifer G. Wishart, University of Edinburgh.Willis DS;Diane S. Willis, Edinburgh Napier University; and. Pitcairn TK;

INSTITUCIÓN / INSTITUTION: - Tom K. Pitcairn, formerly of University of Edinburgh.  

RESUMEN / SUMMARY: - Some children with Down syndrome may experience difficulties in recognizing facial emotions, particularly fear, but it is not clear why, nor how such skills can best be facilitated. Using a photo-matching task, emotion recognition was tested in children with Down syndrome, children with nonspecific intellectual disability and cognitively matched, typically developing children (all groups N = 21) under four conditions: veridical vs. exaggerated emotions and emotion-labelling vs. generic task instructions. In all groups, exaggerating emotions facilitated recognition accuracy and speed, with emotion labelling facilitating recognition accuracy. Overall accuracy and speed did not differ in the children with Down syndrome, although recognition of fear was poorer than in the typically developing children and unrelated to emotion label use. Implications for interventions are considered.
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