CITAS BIBLIOGRÁFICAS
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Noviembre 2017 - Diciembre 2017
November 2017 - December 2017


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AGING - ENVEJECIMIENTO

TÍTULO / TITLE:    - Assessing disease-modifying effects of norepinephrine in Down syndrome and Alzheimer’s disease

REVISTA / JOURNAL:    - Brain Res. 2017 Nov 8. pii: S0006-8993(17)30494-8. doi: 10.1016/j.brainres.2017.09.035.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.brainres.2017.09.035

AUTORES / AUTHORS: - Ponnusamy R; et al.

INSTITUCIÓN / INSTITUTION: - VA Palo Alto Health Care System and Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Palo Alto, CA, USA.   asalehi@stanford.edu

RESUMEN / SUMMARY: - Building upon the knowledge that a number of important brain circuits undergo significant degeneration in Alzheimer’s disease, numerous recent studies suggest that the norepinephrine-ergic system in the brainstem undergoes significant alterations early in the course of both Alzheimer’s disease and Down syndrome. Massive projections from locus coeruleus neurons to almost the entire brain, extensive innervation of brain capillaries, and widespread distribution of noradrenergic receptors enable the norepinephrine-ergic system to play a crucial role in neural processes, including cognitive function. These anatomical and functional characteristics support the role of the norepinephrine-ergic system as an important target for developing new therapies for cognitive dysfunction. Careful neuropathological examinations using postmortem samples from individuals with Alzheimer’s disease have implicated the role of the norepinephrine-ergic system in the etiopathogenesis of Alzheimer’s disease. Furthermore, numerous studies have supported the existence of a strong interaction between norepinephrine-ergic and neuroimmune systems. We explore the interaction between the two systems that could play a role in the disease-modifying effects of norepinephrine in Alzheimer’s disease and Down syndrome.

TÍTULO / TITLE:    - Searching for new pharmacological targets for the treatment of Alzheimer’s disease in Down syndrome.

REVISTA / JOURNAL:    - Eur J Pharmacol. 2017 Dec 15;817:7-19. doi: 10.1016/j.ejphar.2017.10.004. Epub 2017 Oct 5.

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

AUTORES / AUTHORS: - Caraci F; ... Cuello AC

INSTITUCIÓN / INSTITUTION: - Department of Neurology and Neurosurgery, McGill University, Montreal, Canada H3G1Y6; Department of Anatomy and Cell Biology, McGill University, Montreal, Canada H3G1Y6; Department of Pharmacology and Therapeutics, McGill University, Montre   claudio.cuello@mcgill.ca

RESUMEN / SUMMARY: - Individuals with Down syndrome are at increased risk of developing Alzheimer’s disease due to increase gene dosage resulting from chromosome 21 triplication. Although virtually all adults with Down syndrome will exhibit the major neuropathological hallmarks that define Alzheimer’s disease, not all of them will develop the clinical symptoms associated with this disorder (i.e. dementia). Therefore, a good understanding of the pathophysiology of Alzheimer’s disease in Down syndrome will be crucial for the identification of novel pharmacological targets to develop disease-modifying therapies for the benefit of Down syndrome individuals and for Alzheimer’s sufferers alike. The study of biomarkers will also be essential for the development of better screening tools to identify dementia at its incipient stages. This review discusses the best-validated pharmacological targets for the treatment of cognitive impairment and Alzheimer’s disease in Down syndrome. We further examine the relevance of newly discovered biological markers for earlier dementia diagnosis in this population.

TÍTULO / TITLE:    - Down Syndrome and Alzheimer’s Disease: Issues and Implications for Social Work Practice.

REVISTA / JOURNAL:    - J Gerontol Soc Work. 2017 Oct 23:1-7. doi: 10.1080/01634372.2017.1393480.

Enlace a la Editora de la Revista http://dx.doi.org/10.1080/01634372.2017.1393480

AUTORES / AUTHORS: - Fredericksen J; Fabbre V;

INSTITUCIÓN / INSTITUTION: - a George Warren Brown School of Social Work , Washington University , St. Louis , United States.  

RESUMEN / SUMMARY: - Owing to recent medical advancements, people with Down Syndrome (DS) are now able to live considerably longer lives and thus experience a variety of complex issues as they age. Alzheimer’s Disease (AD) frequently occurs in older adults who have DS, but few practice guidelines exist to inform social work practice with older adults who have this dual diagnosis. This commentary will highlight the connection between these two conditions within a neurobiological framework and discuss implications for practice based on the available literature on this intersection of ability status, cognitive status, and age.

TÍTULO / TITLE:    - Human induced pluripotent stem cells and the modelling of Alzheimer’s disease: The human brain outside the dish

REVISTA / JOURNAL:    - (2017) Open Neurology Journal, 11, pp. 27-38.DOI: 10.2174/1874205X01711010027

AUTORES / AUTHORS: - Tong, G., Izquierdo, P., Raashid, R.A.

INSTITUCIÓN / INSTITUTION: - College of Medical and Dental Sciences, University of Birmingham, Edgbaston, Birmingham, United Kingdom  

RESUMEN / SUMMARY: - Background: Neurodegenerative diseases like Alzheimer’s Disease (AD) are a global health issue primarily in the elderly. Although AD has been investigated using primary cultures, animal models and post-mortem human brain tissues, there are currently no effective treatments. Summary: With the advent of induced pluripotent stem cells (iPSCs) reprogrammed from fully differentiated adult cells such as skin fibroblasts, newer opportunities have arisen to study the pathophysiology of many diseases in more depth. It is envisioned that iPSCs could be used as a powerful tool for neurodegenerative disease modelling and eventually be an unlimited source for cell replacement therapy. This paper provides an overview of; the contribution of iPSCs towards modeling and understanding AD pathogenesis, the novel human/mouse chimeric models in elucidating current AD pathogenesis hypotheses, the possible use of iPSCs in drug screening, and perspectives on possible future directions. Key messages: Human/mouse chimeric models using iPSCs to study AD offer much promise in better replicating AD pathology and can be further exploited to elucidate disease pathogenesis with regards to the neuroinflammation hypothesis of AD.

TÍTULO / TITLE:    - Dysfunction of autophagy and endosomal-lysosomal pathways: Roles in pathogenesis of Down syndrome and Alzheimer`s Disease

REVISTA / JOURNAL:    - (2017) Free Radical Biology and Medicine, . Article in Press. DOI: 10.1016/j.freeradbiomed.2017.10.0

AUTORES / AUTHORS: - Colacurcio, D.J., Pensalfini, A., Jiang, Y., Nixon, R.A

INSTITUCIÓN / INSTITUTION: - Center for Dementia Research, Nathan S. Kline Institute, Orangeburg, NY 10962, USA  

RESUMEN / SUMMARY: - Individual s with Down syndrome (DS) have an increased risk of early-onset Alzheimer`s Disease (AD), largely owing to a triplication of the APP gene, located on chromosome 21. In DS and AD, defects in endocytosis and lysosomal function appear at the earliest stages of disease development and progress to widespread failure of intraneuronal waste clearance, neuritic dystrophy and neuronal cell death. The same genetic factors that cause or increase AD risk are also direct causes of endosomal-lysosomal dysfunction, underscoring the essential partnership between this dysfunction and APP metabolites in AD pathogenesis. The appearance of APP-dependent endosome anomalies in DS beginning in infancy and evolving into the full range of AD-related endosomal-lysosomal deficits provides a unique opportunity to characterize the earliest pathobiology of AD preceding the classical neuropathological hallmarks. Facilitating this characterization is the authentic recapitulation of this endosomal pathobiology in peripheral cells from people with DS and in trisomy mouse models. Here, we review current research on endocytic-lysosomal dysfunction in DS and AD, the emerging importance of APP/βCTF in initiating this dysfunction, and the potential roles of additional trisomy 21 genes in accelerating endosomal-lysosomal impairment in DS. Collectively, these studies underscore the growing value of investigating DS to probe the biological origins of AD as well as to understand and ameliorate the developmental disability of DS.

TÍTULO / TITLE:    - Dysregulation of neurotrophin signaling in the pathogenesis of Alzheimer disease and of Alzheimer disease in Down syndrome

REVISTA / JOURNAL:    - (2017) Free Radic al Biology and Medicine, Article in Press.

AUTORES / AUTHORS: - Chen, X.-Q., et al.

INSTITUCIÓN / INSTITUTION: - University of California, San Diego, La Jolla, CA 92093, United States  

RESUMEN / SUMMARY: - Neurotrophic factors, including the members of the neurotrophin family, play important roles in the development and maintenance of the nervous system. Trophic factor signals must be transmitted over long distances from axons and dendrites to the cell bodies of neurons. A mode of signaling well suited to the challenge of robust long distance signaling is the signaling endosome. We review the biology of signaling endosomes and the "signaling endosome hypothesis". Evidence for disruption of signaling endosome function in disorders of the nervous system is also reviewed. Changes in endosome structure in Alzheimer disease (AD) and Down syndrome (DS) are present early in these disorders. Data for the APP products responsible are reviewed and the consequent changes in signaling from endosomes discussed. We conclude by pointing to the need for additional studies to explore the biology of signaling endosomes in normal neurons and to elucidate their role in the pathogenesis of neurodegeneration. 

TÍTULO / TITLE:    - Neuroimaging and other modalities to assess Alzheimer`s disease in Down syndrome

REVISTA / JOURNAL:    - (2018) NeuroImage: Clinical, 17, pp. 263-271. DOI: 10.1016/j.nicl.2017.10.022

AUTORES / AUTHORS: - Neale, N. et al.

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - People with Down syndrome (DS) develop Alzheimer`s disease (AD) at higher rates and a younger age of onset compared to the general population. As the average lifespan of people with DS is increasing, AD is becoming an important health concern in this group. Neuroimaging is becoming an increasingly useful tool in understanding the pathogenesis of dementia development in relation to clinical symptoms. Furthermore, neuroimaging has the potential to play a role in AD diagnosis and monitoring of therapeutics. This review describes major recent findings from in vivo neuroimaging studies analysing DS and AD via ligand-based positron emission tomography (PET), [18F] fluorodeoxyglucose (FDG)-PET, structural magnetic resonance imaging (sMRI), and diffusion tensor imaging (DTI). Electroencephalography (EEG) and retinal imaging are also discussed as emerging modalities. The review is organized by neuroimaging method and assesses the relationship between cognitive decline and neuroimaging changes. We find that amyloid accumulation seen on PET occurs prior to dementia onset, possibly as a precursor to the atrophy and white matter changes seen in MRI studies. Future PET studies relating tau distribution to clinical symptoms will provide further insight into the role this protein plays in dementia development. Brain activity changes demonstrated by EEG and metabolic changes seen via FDG-PET may also follow predictable patterns that can help track dementia progression. Finally, newer approaches such as retinal imaging will hopefully overcome some of the limitations of neuroimaging and allow for detection of dementia at an earlier stage.

CARDIOLOGY - CARDIOLOGÍA

TÍTULO / TITLE:    - Dynamics in prevalence of Down syndrome in children with congenital heart disease.

REVISTA / JOURNAL:    - Eur J Pediatr. 2017 Nov 10. pii: 10.1007/s00431-017-3041-6. doi: 10.1007/s00431-017-3041-6.

Enlace a la Editora de la Revista http://dx.doi.org/10.1007/s00431-017-3041-6

AUTORES / AUTHORS: - Pfitzer C... Schmitt KRL;

INSTITUCIÓN / INSTITUTION: - Department of Congenital Heart Disease-Paediatric Cardiology, Deutsches Herzzentrum Berlin, Augustenburger Platz 1, 13353, Berlin, Germany.; DZHK (German Centre for Cardiovascular Research), partner site Berlin, Berlin, Germany.  

RESUMEN / SUMMARY: - We assessed the dynamics in the prevalence of children with congenital heart disease (CHD) and Down syndrome in Germany with regard to phenotype, severity, and gender. Data from patients with CHD and Down syndrome born between 1980 and 2014 were analyzed, who are registered with the German National Register for Congenital Heart Defects. One thousand six hundred eighteen CHD patients with Down syndrome were identified. The prevalence of children born with both Down syndrome and CHD was constant from 2005 to 2009 but increased from 2010 to 2014. Regarding CHD groups, complex and simple lesions have become more equal since 2005. The number of simple lesions with shunt has a peak prevalence in the period of 2010-2014. Atrioventricular septal defect was the most common CHD phenotype, but temporal changes were found within the group of CHD phenotypes over the observation period. CONCLUSION: Our findings suggest a growing number of CHD and Down syndrome, which may be the result of improved medical management and progress in educational, social, and financial support. This development is noteworthy as it adds new aspects to present discussions in the media and political settings. What is known: * Congenital heart disease is regarded to be the most important clinical phenomenon in children with Down syndrome, due to its significant impact on morbidity and mortality. * New developments in prenatal diagnostic and therapy management of congenital heart disease continue to influence the number of patients diagnosed with congenital heart disease and Down syndrome. What is New: * This study provides essential data giving the first overview of the dynamics in the prevalence of congenital heart disease and Down syndrome over an extended length of time up to 2015 in a large patient cohort, taking recent developments into account. * Our data suggest a growing prevalence of congenital heart disease and Down syndrome, which may be the result of improved medical management for Down syndr

TÍTULO / TITLE:    - CRELD1 gene variants and atrioventricular septal defects in Down syndrome.

REVISTA / JOURNAL:    - Gene. 2018 Jan 30;641:180-185. doi: 10.1016/j.gene.2017.10.044. Epub 2017 Oct 18.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.gene.2017.10.044

AUTORES / AUTHORS: - Asim A; et al.

INSTITUCIÓN / INSTITUTION: - Department of Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences (SGPGIMS), Lucknow 226014, India.   sarita@sgpgi.ac.in

RESUMEN / SUMMARY: - Congenital heart defects (CHD) are seen in around 40% of the Down syndrome patients. Atrioventricular Septal Defect (AVSD) or endocardial cushion defect is commonest form of CHD in these children. CRELD1 gene is implicated in causation of sporadic AVSD. In the present study, we evaluated the association and significance of CRELD1 variants with AVSD in Down syndrome (DS) patients. Sequencing was done in blood samples from 3 groups: group I (DS with AVSD), group II (DS without AVSD) and group III (non-syndromic AVSD cases). Twenty two variants in CRELD1 gene were identified, comprising of sixteen novel and six previously reported variants. However, on the basis of sequence, as well as structure analysis, the variant c.973G>A(p.Glu325Lys) variant was identified only in DS having AVSD group which was predicted to have significant effects on calcium binding of putative CRELD1 protein. Since CRELD1 gene acts as a regulator of calcineurin/NFATc1 signaling which is crucial for the regulation of cardiac development by dephosphorylation of the transcription factor, NFAT(nuclear factor of activated T cells),in cytoplasm, the variation in cb-EGF-like calcium binding domain in CRELD1 protein is likely to have pathogenic consequences. Thus, we conclude that the CRELD1 gene is likely to have a major role in causation of AVSD phenotype in selected DS patients.

TÍTULO / TITLE:    - Study of congenital heart diseases in patients with Down syndrome in Algeria.

REVISTA / JOURNAL:    - East Mediterr Health J. 2017 Nov 19;23(9):632-636.

AUTORES / AUTHORS: - Boussouf K; et al.

INSTITUCIÓN / INSTITUTION: - Department of Cardiology, University Hospital of Ben Aknoun, Algiers, Algeria; Genetics Laboratory of Cardiovascular Diseases, Setif, Algeria.  

RESUMEN / SUMMARY: - This study aimed to describe and evaluate the type, frequency and patterns of congenital heart diseases (CHDs) in patients with Down Syndrome (DS) in Setif, Algeria. Down Syndrome, or trisomy 21, is the most common genetic disorder in the world. Data were collected and followed from January 2009 to December 2013. Parental consanguinity documenting pedigree analyzing, chromosome analysis and clinical examination were carried out for all cases. Results have shown that 22 (15.4%; +/- 0.06) of the total 143 known cases of DS from DS centres have CHDs and 88 (10.6%; +/- 2.2) of the total 770 patients with CHDs collected from public departments at the child and maternity teaching hospital, Setif, have DS. Among the 110 cases, 75 (68%) have single cardiac abnormalities and 35 (32%) have multiple cardiac abnormalities. The most frequent CHDs were Atrioventricular Septal Defect (AVSD). In conclusion, our study will be helpful to demonstrate the current status of DS and to identify the distribution of CHD in patients with DS in Setif, Algeria, for further study.

TÍTULO / TITLE:    - Prevalence of congenital heart diseases in children with Down syndrome in Mansoura, Egypt: a retrospective descriptive study.

REVISTA / JOURNAL:    - Ann Saudi Med. 2017 Sep-Oct;37(5):386-392. doi: 10.5144/0256-4947.2017.386.

Enlace a la Editora de la Revista http://dx.doi.org/10.5144/0256-4947.2017.386

AUTORES / AUTHORS: - El-Gilany AH et al

INSTITUCIÓN / INSTITUTION: - Correspondence: Dr. Yahya Wahba Department of Pediatrics (Genetic Unit), Faculty of Medicine, Mansoura University, Mansoura 002, Egypt   yahyawahba@ymail.com

RESUMEN / SUMMARY: - BACKGROUND: The pattern and risk factors for congenital heart diseases (CHD) in children with Down syndrome (DS) vary over time. OBJECTIVES: To update knowledge of the prevalence, types, trends and associated factors for CHD in children with DS in the Egyptian Delta. DESIGN: A retrospective hospital record-based descriptive study. SETTING: A tertiary care center in Mansoura, Egypt during a period of 14 years from 2003 up to 2016. PATIENTS AND METHODS: We studied children with genetically proven DS. Relevant sociodemographic factors, medical history, clinical examination, karyotype and echocardiographic data were statistically analyzed. MAIN OUTCOME MEASURES: Prevalence, types and risk factors of CHD in DS. RESULTS: The prevalence of overall, isolated and multiple CHD in 1720 children with DS were 36.9%, 29% and 8%, respectively. Isolated defects accounted for 78.4% of all CHD. Ventricular septal defect, atrioventricular septal defect and atrial septal defect were the most frequent isolated defects. There was a downward trend in the prevalence of overall CHD (from 56.2% to 25.0%) and isolated CHD (from 56.2% to 19.8%). The logistic regression model predicted 65.7% of CHD and revealed that passive maternal smoking, lack of folic acid/multivitamin supplementation and parental consanguinity were the independent predictors of CHD in children with DS with adjusted odds ratios of 1.9, 1.8 and 1.9, respectively. CONCLUSION: More than one-third of children with DS have CHD with ventricular septal defect, which is the most common. Avoidance of passive maternal smoking and consanguineous marriage together with maternal folic acid supplementation could contribute to further reduction of CHD in children with DS. LIMITATIONS: Single-center study and retrospective.

TÍTULO / TITLE:    - Analysis of Copy Number Variants on Chromosome 21 in Down Syndrome-Associated Congenital Heart Defects.

REVISTA / JOURNAL:    - G3 (Bethesda). 2017 Nov 15. pii: g3.117.300366. doi: 10.1534/g3.117.300366.

Enlace a la Editora de la Revista http://dx.doi.org/10.1534/g3.117.300366

AUTORES / AUTHORS: - Rambo-Martin BL; ... Zwick ME;

INSTITUCIÓN / INSTITUTION: - Emory University   mzwick@emory.edu

RESUMEN / SUMMARY: - One in five people with Down syndrome (DS) are born with an atrioventricular septal defect (AVSD), an incidence 2,000 times higher than in the euploid population. The genetic loci that contribute to this risk are poorly understood. In this study, we tested two hypotheses: 1) individuals with DS carrying chromosome 21 copy number variants (CNVs) that interrupt exons may be protected from AVSD, because these CNVs return AVSD susceptibility loci back to disomy, and 2) individuals with DS carrying chromosome 21 genes spanned by microduplications are at greater risk for AVSD because these microduplications boost the dosage of AVSD susceptibility loci beyond a tolerable threshold. We tested 198 case individuals with DS+AVSD and 211 control individuals with DS and a normal heart using a custom microarray with dense probes tiled on chromosome 21 for array CGH. We found that neither an individual chromosome 21 CNV nor any individual gene intersected by a CNV was associated with AVSD in DS. Burden analyses revealed that African American controls had more bases covered by rare deletions than did African American cases. Inversely, we found that Caucasian cases had more genes intersected by rare duplications than did Caucasian controls. We also showed that previously DS+AVSD-associated common CNVs on chromosome 21 failed to replicate. This research adds to the swell of evidence indicating that DS-associated AVSD is similarly heterogeneous, as is AVSD in the euploid population.

TÍTULO / TITLE:    - Overexpression of Chromosome 21 miRNAs May Affect Mitochondrial Function in the Hearts of Down Syndrome Fetuses.

REVISTA / JOURNAL:    - Int J Genomics. 2017;2017:8737649. doi: 10.1155/2017/8737649. Epub 2017 Sep 5.

Enlace a la Editora de la Revista http://dx.doi.org/10.1155/2017/8737649

AUTORES / AUTHORS: - Izzo A et al.

INSTITUCIÓN / INSTITUTION: - Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, 80131 Naples, Italy.  

RESUMEN / SUMMARY: - Dosage-dependent upregulation of most of chromosome 21 (Hsa21) genes has been demonstrated in heart tissues of fetuses with Down syndrome (DS). Also miRNAs might play important roles in the cardiac phenotype as they are highly expressed in the heart and regulate cardiac development. Five Hsa21 miRNAs have been well studied in the past: miR-99a-5p, miR-125b-2-5p, let-7c-5p, miR-155-5p, and miR-802-5p but few information is available about their expression in trisomic tissues. In this study, we evaluated the expression of these miRNAs in heart tissues from DS fetuses, showing that miR-99a-5p, miR-155-5p, and let-7c-5p were overexpressed in trisomic hearts. To investigate their role, predicted targets were obtained from different databases and cross-validated using the gene expression profiling dataset we previously generated for fetal hearts. Eighty-five targets of let-7c-5p, 33 of miR-155-5p, and 10 of miR-99a-5p were expressed in fetal heart and downregulated in trisomic hearts. As nuclear encoded mitochondrial genes were found downregulated in trisomic hearts and mitochondrial dysfunction is a hallmark of DS phenotypes, we put special attention to let-7c-5p and miR-155-5p targets downregulated in DS fetal hearts and involved in mitochondrial function. The let-7c-5p predicted target SLC25A4/ANT1 was identified as a possible candidate for both mitochondrial and cardiac anomalies.

TÍTULO / TITLE:    - Bradyarrhythmia in patients with down syndrome without congenital heart disease. Case description [Descripción de un caso de bradiarritmia en pacientes con síndrome de Down sin enfermedad cardiaca con

REVISTA / JOURNAL:    - (2017) Revista Facultad de Medicina, 65 (2), pp. 363-366.

AUTORES / AUTHORS: - Rodríguez-Mendieta, L.H.

INSTITUCIÓN / INSTITUTION: - Fundación Santafé de Bogotá, Departamento de Cardiología, Bogotá D.C., Colombia  

RESUMEN / SUMMARY: - Introduction: Patients with Down syndrome without structural heart disease may present with a dysfunction of the cardiac autonomic regulation, which is manifested by a reduced response of the heart rate (HR) to stimuli. Based on the hemodynamic responses, it has been postulated that individuals with Down syndrome have a reduced vagal tone and sympathetic activation. This review explains the role of the autonomic system in the control of HR and the attenuated chronotropic response observed in this population. Objective: To describe, through a clinical case presentation, the autonomic dysfunction observed in patients with Down syndrome, in order to identify the causes attributed by scientific evidence. Materials and methods: A clinical case was described and a search was made in PubMed of the terms: “Down Syndrome” AND “Bradycardia”, “VO2peak”, “Heart Rate Variability”, “Vagal Tone”, “Sympathetic Activation”. Results: The findings suggest that physical exercise may be an effective intervention to improve autonomic cardiac function in patients with Down syndrome. Furthermore, training-induced improvements were achieved by participants with lower levels of vagal modulation at the start of the study, in both patients with and without disabilities. In consequence, training may be effective to improve cardiorespiratory fitness in those who have a greater degree of autonomic dysfunction. Conclusion: A clinical case of Down syndrome with sinus dysfunction was presented in this study. This condition could be related to a dysfunction of autonomic cardiac function regulation caused by reduced HR response to stimuli.

EAR/NASAL - OTORRINOLARINGOLOGÍA

TÍTULO / TITLE:    - Characteristics and Progression of Hearing Loss in Children with Down Syndrome.

REVISTA / JOURNAL:    - J Pediatr. 2017 Nov 21. pii: S0022-3476(17)31307-0. doi: 10.1016/j.jpeds.2017.09.053.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.jpeds.2017.09.053

AUTORES / AUTHORS: - Kreicher KL; et al.

INSTITUCIÓN / INSTITUTION: - Department of Otolaryngology-Head and Neck Surgery, Medical University of South Carolina, Charleston, SC; Case Western Reserve University School of Medicine, Cleveland, OH.   kreicher@musc.edu

RESUMEN / SUMMARY: - To evaluate hearing impairment in children with Down syndrome, and to describe the factors that influence the severity of hearing loss or changes in hearing over time. STUDY DESIGN: Using the Audiological and Genetic Database (AudGenDB), audiograms of children with Down syndrome were analyzed retrospectively for type, severity, and laterality of hearing loss, as well as changes over time. Medical charts and imaging results were reviewed to identify factors influencing hearing loss. RESULTS: Among the 1088 patients with Down syndrome included in the study, 921 had hearing loss in at least 1 ear, 91.1% had bilateral hearing loss, and 8.9% had unilateral hearing loss (1760 total ears with hearing loss). Of the ears with hearing loss, 18.8% (n = 180) had moderate or worse hearing loss. “Undefined” hearing loss and pure conductive hearing loss (CHL) were the most common types, followed by mixed hearing loss and sensorineural hearing loss (SNHL). Three-quarters (75.4%) of the children had experienced chronic otitis media or more than 2 episodes of acute otitis media. Patients with bilateral, mixed hearing loss or a history of seizures were at risk for more severe hearing loss. CHL, absence of cholesteatoma, and placement of first ear tubes before age 2 years were associated with greater improvement in hearing over time, whereas SNHL and mixed hearing loss were associated with progressive decline. CONCLUSION: Children with Down syndrome who have bilateral, mixed hearing loss or a history of seizures are at risk for more severe hearing loss. SNHL and mixed hearing loss should not be overlooked in patients with CHL. All patients with Down syndrome will benefit from serial audiograms, especially those children with SNHL or mixed hearing loss, which is likely to worsen over time.

TÍTULO / TITLE:    - Clinical variables determining the success of adenotonsillectomy in children with Down syndrome.

REVISTA / JOURNAL:    - Int J Pediatr Otorhinolaryngol. 2017 Nov;102:148-153. doi: 10.1016/j.ijporl.2017.09.017. Epub 2017 S

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.ijporl.2017.09.017

AUTORES / AUTHORS: - da Rocha M; et al.

INSTITUCIÓN / INSTITUTION: - Otorhinolaryngologist, Universidade Federal de Sao Paulo, Rua Pedro de Toledo 947, 04039-002, Sao Paulo, SP, Brazil   mairadarocha@gmail.com

RESUMEN / SUMMARY: - To evaluate the evolution of polysomnographic parameters of children with Down syndrome and obstructive sleep apnea syndrome submitted to adenotonsillectomy and the interaction of comorbidities on therapeutic outcome. METHODS: Ninety patients with Down syndrome and habitual snoring were identified between 2005 and 2015 in a Pediatric Otorhinolaryngology Clinic. Parent’s complaints were evaluated by the test of equality of two proportions. Wilcoxon test was used to examine pre- and post-operative polysomnographic differences. Mann-Whitney test evaluated the influence of comorbidities. A p < 0.05 was considered significant. RESULTS: A total of 27 patients met the inclusion criteria (55.6% patients were males; mean (SD) age were 6.7 (3.6) years (range, 1.5-16 years). Significant improvement of parent’s complaints (p < 0.001), arousal index (p = 0.045), and minimum oxygen saturation were observed post-adenotonsillectomy (p = 0.034). Adenotonsillectomy was able to resolve obstructive sleep apnea syndrome in 29.6% of children with Down syndrome. Nineteen patients (70.4%) remained with obstructive sleep apnea syndrome and 44.4% showed a reduction of at least 50% of obstructive apnea-hypopnea index. Central apnea index post-adenotonsillectomy was worse in patients with heart disease (p = 0.022). Sleep efficiency (p = 0.031), N1 sleep stage (p = 0.001), apnea-hypopnea index (p = 0.023), and central apnea index (p = 0.008) were worse after surgery in patients with hypothyroidism. Patients with severe OSAS showed significant improvement in polysomnographic parameters after surgery. CONCLUSION: Although adenotonsillectomy improved symptoms and objective sleep data in children with Down syndrome, it was not able to resolve obstructive sleep apnea syndrome in most patients. Congenital heart diseases and hypothyroidism may affect the outcome.

TÍTULO / TITLE:    - Hypoglossal Nerve Stimulation in Adolescents With Down Syndrome and Obstructive Sleep Apnea.

REVISTA / JOURNAL:    - JAMA. Free access to the article (immediately).

Enlace a la Editora de la Revista http://jama.ama-assn.org/search.dtl

AUTORES / AUTHORS: - Diercks GR; et al.

INSTITUCIÓN / INSTITUTION: - Department of Otolaryngology, Massachusetts Eye and Ear Infirmary, Boston.Department of Otology and Laryngology, Harvard Medical School, Boston, Massachusetts.  

RESUMEN / SUMMARY: - Importance: Obstructive sleep apnea (OSA) affects up to 60% of children with Down syndrome (DS) and may persist in half of patients after adenotonsillectomy. Children with DS who have persistent OSA often do not tolerate treatment with positive pressure airway support devices or tracheotomy for their residual moderate to severe OSA. The hypoglossal nerve stimulator is an implantable device that delivers an electrical impulse to anterior branches of the hypoglossal nerve in response to respiratory variation, resulting in tongue base protrusion that alleviates upper airway obstruction in adults. Objective: To determine whether hypoglossal nerve stimulation is safe and effective in children with DS. Design, Setting, and Participants: Case series of the first 6 adolescents with DS to undergo hypoglossal nerve stimulator implantation. Participants were 6 children and adolescents (12-18 years) with DS and severe OSA (apnea hypopnea index [AHI] > 10 events/h) despite prior adenotonsillectomy. Intervention: Inspire hypoglossal nerve stimulator placement. Main Outcomes and Measures: Patients were monitored for adverse events. Adherence to therapy was measured by hours of use recorded by the device. Efficacy was evaluated by comparing AHI and OSA-18, a validated quality-of-life instrument, scores at baseline and follow-up. Results: In 6 patients (4 male, 2 female; aged 12-18 years), hypoglossal nerve stimulator therapy was well tolerated (mean use, 5.6-10.0 h/night) and effective, resulting in significant improvement in OSA. At 6- to 12-month follow-up, patients demonstrated a 56% to 85% reduction in AHI, with an overall AHI of less than 5 events/h in 4 children and less than 10 events/h in 2 children. Children also demonstrated a clinically significant improvement (mean [SD] overall change score, 1.5 [0.6]; range, 0.9-2.3) on the OSA-18, a validated quality-of-life instrument. Conclusions and Relevance: Hypoglossal nerve stimulation was well tolerated and effective in the st

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

REVISTA / JOURNAL:    - (2017) International Journal of Pediatric Otorhinolaryngology, 103, pp. 36-40. DOI: 10.1016/j.ijporl

AUTORES / AUTHORS: - Ghadersohi, S., et al

INSTITUCIÓN / INSTITUTION: - Ann & Robert H. Lurie Children`s Hospital of Chicago, Division of Otolaryngology – Head and Neck Surgery, Chicago, IL, United States  

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

ENDOCRINOLOGY/NUTRITION - ENDOCRINOLOGÍA/NUTRICIÓN

TÍTULO / TITLE:    - Bone Mass Assessment in a Cohort of Adults With Down Syndrome: A Cross-Sectional Study.

REVISTA / JOURNAL:    - Intellect Dev Disabil. 2017 Oct;55(5):315-324. doi: 10.1352/1934-9556-55.5.315.

Enlace a la Editora de la Revista http://dx.doi.org/10.1352/1934-9556-55.5.315

AUTORES / AUTHORS: - Costa R; et al.

INSTITUCIÓN / INSTITUTION: - Intellect Dev Disabil. 2017 Oct;55(5):315-324. doi: 10.1352/1934-9556-55.5.315.   http://dx.doi.org/10.1352/1934-9556-55.5.315

RESUMEN / SUMMARY: - Differences in bone mineral density (BMD) have been observed between adults with Down syndrome (DS) and the general population. The purpose of this article is to describe the prevalence of bone mass disorders in a cohort of adults with DS and their predisposing factors. We performed a cross-sectional study of 104 consecutively recruited adults with DS from an outpatient clinic of a tertiary care hospital in Madrid, España. We recorded epidemiological and anthropometric data, nutritional variables, coexisting clinical conditions, and laboratory variables. BMD was measured at the lumbar spine, total hip, and femoral neck using dual-energy X-ray absorptiometry. The prevalence of osteopenia ranged from 48% to 52%, and that of osteoporosis ranged from 19% to 22% depending on the site of measurement (femoral neck or lumbar spine, respectively). Age was the greatest risk factor associated for lower BMD, with similar bone mass accrual curve but with lower peak of BMD than the general population. We conclude that low bone mass is an extremely prevalent condition in adult patients with DS.

TÍTULO / TITLE:    - Endocrine manifestations of Down syndrome.

REVISTA / JOURNAL:    - Curr Opin Endocrinol Diabetes Obes. 2017 Nov 11. doi: 10.1097/MED.0000000000000382.

Enlace a la Editora de la Revista http://dx.doi.org/10.1097/MED.0000000000000382

AUTORES / AUTHORS: - Whooten R; et al.

INSTITUCIÓN / INSTITUTION: - aDivision of Pediatric Endocrinology bDivision of General Academic Pediatrics, Department of Pediatrics cDepartment of Pediatrics, Down Syndrome Clinic, Massachusetts General Hospital for Children, Boston, Massachusetts, USA.  

RESUMEN / SUMMARY: - PURPOSE OF REVIEW: To summarize the recent developments in endocrine disorders associated with Down syndrome. RECENT FINDINGS: Current research regarding bone health and Down syndrome continues to show an increased prevalence of low bone mass and highlights the importance of considering short stature when interpreting dual energy x-ray absorptiometry. The underlying cause of low bone density is an area of active research and will shape treatment and preventive measures. Risk of thyroid disease is present throughout the life course in individuals with Down syndrome. New approaches and understanding of the pathophysiology and management of subclinical hypothyroidism continue to be explored. Individuals with Down syndrome are also at risk for other autoimmune conditions, with recent research revealing the role of the increased expression of the Autoimmune Regulatory gene on 21st chromosome. Lastly, Down-syndrome-specific growth charts were recently published and provide a better assessment of growth. SUMMARY: Recent research confirms and expands on the previously known endocrinopathies in Down syndrome and provides more insight into potential underlying mechanisms.

EPIDEMIOLOGY - EPIDEMIOLOGÍA

TÍTULO / TITLE:    - Dynamics in prevalence of Down syndrome in children with congenital heart disease.

REVISTA / JOURNAL:    - Eur J Pediatr. 2017 Nov 10. pii: 10.1007/s00431-017-3041-6. doi: 10.1007/s00431-017-3041-6.

Enlace a la Editora de la Revista http://dx.doi.org/10.1007/s00431-017-3041-6

AUTORES / AUTHORS: - Pfitzer C... Schmitt KRL;

INSTITUCIÓN / INSTITUTION: - Department of Congenital Heart Disease-Paediatric Cardiology, Deutsches Herzzentrum Berlin, Augustenburger Platz 1, 13353, Berlin, Germany.; DZHK (German Centre for Cardiovascular Research), partner site Berlin, Berlin, Germany.  

RESUMEN / SUMMARY: - We assessed the dynamics in the prevalence of children with congenital heart disease (CHD) and Down syndrome in Germany with regard to phenotype, severity, and gender. Data from patients with CHD and Down syndrome born between 1980 and 2014 were analyzed, who are registered with the German National Register for Congenital Heart Defects. One thousand six hundred eighteen CHD patients with Down syndrome were identified. The prevalence of children born with both Down syndrome and CHD was constant from 2005 to 2009 but increased from 2010 to 2014. Regarding CHD groups, complex and simple lesions have become more equal since 2005. The number of simple lesions with shunt has a peak prevalence in the period of 2010-2014. Atrioventricular septal defect was the most common CHD phenotype, but temporal changes were found within the group of CHD phenotypes over the observation period. CONCLUSION: Our findings suggest a growing number of CHD and Down syndrome, which may be the result of improved medical management and progress in educational, social, and financial support. This development is noteworthy as it adds new aspects to present discussions in the media and political settings. What is known: * Congenital heart disease is regarded to be the most important clinical phenomenon in children with Down syndrome, due to its significant impact on morbidity and mortality. * New developments in prenatal diagnostic and therapy management of congenital heart disease continue to influence the number of patients diagnosed with congenital heart disease and Down syndrome. What is New: * This study provides essential data giving the first overview of the dynamics in the prevalence of congenital heart disease and Down syndrome over an extended length of time up to 2015 in a large patient cohort, taking recent developments into account. * Our data suggest a growing prevalence of congenital heart disease and Down syndrome, which may be the result of improved medical management for Down syndr

GENETICS - GENÉTICA

TÍTULO / TITLE:    - CRELD1 gene variants and atrioventricular septal defects in Down syndrome.

REVISTA / JOURNAL:    - Gene. 2018 Jan 30;641:180-185. doi: 10.1016/j.gene.2017.10.044. Epub 2017 Oct 18.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.gene.2017.10.044

AUTORES / AUTHORS: - Asim A; et al.

INSTITUCIÓN / INSTITUTION: - Department of Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences (SGPGIMS), Lucknow 226014, India.   sarita@sgpgi.ac.in

RESUMEN / SUMMARY: - Congenital heart defects (CHD) are seen in around 40% of the Down syndrome patients. Atrioventricular Septal Defect (AVSD) or endocardial cushion defect is commonest form of CHD in these children. CRELD1 gene is implicated in causation of sporadic AVSD. In the present study, we evaluated the association and significance of CRELD1 variants with AVSD in Down syndrome (DS) patients. Sequencing was done in blood samples from 3 groups: group I (DS with AVSD), group II (DS without AVSD) and group III (non-syndromic AVSD cases). Twenty two variants in CRELD1 gene were identified, comprising of sixteen novel and six previously reported variants. However, on the basis of sequence, as well as structure analysis, the variant c.973G>A(p.Glu325Lys) variant was identified only in DS having AVSD group which was predicted to have significant effects on calcium binding of putative CRELD1 protein. Since CRELD1 gene acts as a regulator of calcineurin/NFATc1 signaling which is crucial for the regulation of cardiac development by dephosphorylation of the transcription factor, NFAT(nuclear factor of activated T cells),in cytoplasm, the variation in cb-EGF-like calcium binding domain in CRELD1 protein is likely to have pathogenic consequences. Thus, we conclude that the CRELD1 gene is likely to have a major role in causation of AVSD phenotype in selected DS patients.

TÍTULO / TITLE:    - DNA hydroxymethylation levels are altered in blood cells from Down syndrome persons enrolled in the MARK-AGE project.

REVISTA / JOURNAL:    - J Gerontol A Biol Sci Med Sci. 2017 Oct 21. pii: 4560777. doi: 10.1093/gerona/glx198.

Enlace a la Editora de la Revista http://dx.doi.org/10.1093/gerona/glx198

AUTORES / AUTHORS: - Ciccarone F;et al.

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - Down syndrome (DS) is caused by the presence of part or an entire extra copy of chromosome 21, a phenomenon that can cause a wide spectrum of clinically defined phenotypes of the disease. Most of the clinical signs of DS are typical of the ageing process including dysregulation of immune system. Beyond the causative genetic defect, DS persons display epigenetic alterations, particularly aberrant DNA methylation patterns that can contribute to the heterogeneity of the disease. In the present work we investigated the levels of 5-hydroxymethylcytosine (5hmC) and of the TET dioxygenase enzymes, which are involved in DNA demethylation processes and are often deregulated in pathological conditions as well as in ageing. Analyses were carried out on peripheral blood mononuclear cells of DS volunteers enrolled in the context of the MARK-AGE study, a large-scale cross-sectional population study with subjects representing the general population in eight European countries. We observed a decrease of 5hmC, TET1 and other components of the DNA methylation/demethylation machinery in DS subjects, indicating that aberrant DNA methylation patterns in DS, which may have consequences on the transcriptional status of immune cells, may be due to a global disturbance of methylation control in DS.

TÍTULO / TITLE:    - Beyond Down syndrome phenotype: Paternally derived isodicentric chromosome 21 with partial monosomy 21q22.3.

REVISTA / JOURNAL:    - Am J Med Genet A. 2017 Dec;173(12):3153-3157. doi: 10.1002/ajmg.a.38497. Epub 2017 Oct 19.

Enlace a la Editora de la Revista http://dx.doi.org/10.1002/ajmg.a.38497

AUTORES / AUTHORS: - Putra M Surti U

INSTITUCIÓN / INSTITUTION: - Department of Obstetrics, Gynecology, and Reproductive Sciences, Magee-Womens Hospital, University of Pittsburgh, Pittsburgh, Pennsylvania  

RESUMEN / SUMMARY: - Inverted isodicentric chromosome 21 is a rare form of chromosomal rearrangement that may result in trisomy 21; sometimes this rearrangement may also lead to segmental monosomy of the terminal long arm of chromosome 21. In this report, we describe the prenatal diagnosis and neonatal follow-up of a child with a paternally derived, de novo isodicentric chromosome 21 and a concurrent approximately 1.2 Mb deletion of the 21q22.3 region [46,XX,idic(21)(q22.3)]. This child presented with unusual phenotype of Down syndrome and additional defects including esophageal atresia and tethered cord syndrome. The resulting phenotype in this infant might be a coalescence of the partial trisomy and monosomy 21, as well as homozygosity for idic (21). The utilization of chromosomal microarray in this case enabled accurate characterization of a rare chromosome abnormality, potentially contributes to future phenotype-genotype correlation and produced evidence for a molecular mechanism underlying this rearrangement.

TÍTULO / TITLE:    - Parental education accounts for variability in the IQs of probands with Down syndrome: A longitudinal study.

REVISTA / JOURNAL:    - Am J Med Genet A. 2017 Nov 21. doi: 10.1002/ajmg.a.38519.

Enlace a la Editora de la Revista http://dx.doi.org/10.1002/ajmg.a.38519

AUTORES / AUTHORS: - Evans D; Uljarevic M

INSTITUCIÓN / INSTITUTION: - Olga Tennison Autism Research Centre, School of Psychology and Public Health, La Trobe University, Bundoora, Victoria, Australia.  

RESUMEN / SUMMARY: - Recent work has demonstrated that variability in probands’ phenotypes, including physical features, cognitive abilities, social functioning, and other developmental domains, is influenced by parental traits. Here we examine the role of parental education as a factor contributing to the variability of intelligence quotient (IQ) of offspring with trisomy 21. Participants were 43 probands with trisomy 21, aged 4-21 years of age, and their parents. Data were collected on parental education, and a bi-parental mean education score (BMES) was calculated. Probands’ cognitive abilities were assessed by the Stanford-Binet 4th edition at baseline (T1), and again 24 months later (T2). Probands were placed into one of two age groups: 4-12 years and 13-21 years. Results indicated higher parent-proband correlations in Age Group 2 (mean r = .47) relative to Age Group 1 (mean r = .33) and increasing parent-proband correlations across time, with mean correlations of Age Group 1, T1: r = .26, T2: 39; Age Group 2 T1: r = .49, T2: r = 46. Despite the expected IQ deficits observed in trisomy 21 probands, parental education may still contribute to the variability of probands’ cognitive abilities. These findings are consistent with the literature noting increasing heritability of IQ with development.

TÍTULO / TITLE:    - Overexpression of DYRK1A, a Down Syndrome Candidate gene, Impairs Primordial Germ Cells Maintenance and Migration in zebrafish.

REVISTA / JOURNAL:    - Sci Rep. 2017 Nov 10;7(1):15313. doi: 10.1038/s41598-017-15730-w.

Enlace a la Editora de la Revista http://dx.doi.org/10.1038/s41598-017-15730-w

AUTORES / AUTHORS: - Liu Y; ... Sun H;

INSTITUCIÓN / INSTITUTION: - SCU-CUHK Joint Laboratory for Reproductive Medicine, Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Department of Pediatrics, West China Second University Hospital, Si   sunhuaqin@scu.edu.cn

RESUMEN / SUMMARY: - DYRK1A, located on chromosome 21, is a major candidate gene of Down syndrome (DS, trisomy21), and its overexpression is associated with abnormal phenotype of Down syndrome patients. The defects of gonads and germ cells in Down Syndrome suggest that overexpression of DYRK1A has potential effect on primordial germ cells (PGCs) development. Human and zebrafish DYRK1A protein sequence possess 75.6% similarity and same function domains, suggesting the evolutional conservation. Here, we used zebrafish model to detect the definite role of excessive expression of DYRK1A in PGCs development during embryogenesis. We injected DYRK1A mRNA into embryos and detected the PGCs marker gene vasa and nanos1. Results showed depletion in numbers and disordering migration of PGCs in human or zebrafish DYRK1A overexpressed zebrafish embryos. Quantitative proteome analysis indicated that embryonic proteins were significantly altered in DYRK1A overexpressed embryos. Of note, ca15b and piwil1, two identified critical factors for PGCs development, showed ectopic expression induced by overexpressed DYRK1A. In brief, we demonstrate that overexpression of DYRK1A, a candidate gene of Down’s syndrome, impairs PGCs development during early embryogenesis by altering key factors in embryos. Importantly, our work may provide a conceivable mechanism for the gonads and germ cells defects of Down syndrome patients.

TÍTULO / TITLE:    - Systematic proteome and proteostasis profiling in human Trisomy 21 fibroblast cells.

REVISTA / JOURNAL:    - Nat Commun. 2017 Oct 31;8(1):1212. doi: 10.1038/s41467-017-01422-6.

Enlace a la Editora de la Revista http://dx.doi.org/10.1038/s41467-017-01422-6

AUTORES / AUTHORS: - Liu Y ... Antonarakis SE;

INSTITUCIÓN / INSTITUTION: - Department of Genetic Medicine and Development, University of Geneva Medical School, and University Hospitals of Geneva, 1211, Geneva, Switzerland.   Stylianos.Antonarakis@unige.ch

RESUMEN / SUMMARY: - Down syndrome (DS) is mostly caused by a trisomy of the entire Chromosome 21 (Trisomy 21, T21). Here, we use SWATH mass spectrometry to quantify protein abundance and protein turnover in fibroblasts from a monozygotic twin pair discordant for T21, and to profile protein expression in 11 unrelated DS individuals and matched controls. The integration of the steady-state and turnover proteomic data indicates that protein-specific degradation of members of stoichiometric complexes is a major determinant of T21 gene dosage outcome, both within and between individuals. This effect is not apparent from genomic and transcriptomic data. The data also reveal that T21 results in extensive proteome remodeling, affecting proteins encoded by all chromosomes. Finally, we find broad, organelle-specific post-transcriptional effects such as significant downregulation of the mitochondrial proteome contributing to T21 hallmarks. Overall, we provide a valuable proteomic resource to understand the origin of DS phenotypic manifestations.

TÍTULO / TITLE:    - Twin Studies in Brazil: Projects and Plans / Twin Research: Infant Twins’ Viewing of Social Scenes; Religiosity and Substance Abuse; Down Syndrome Among Twins; Twin Case of Chronic Periodontitis / In

REVISTA / JOURNAL:    - Twin Res Hum Genet. 2017 Oct;20(5):481-488. doi: 10.1017/thg.2017.50.

Enlace a la Editora de la Revista http://dx.doi.org/10.1017/thg.2017.50

AUTORES / AUTHORS: - Segal NL;

INSTITUCIÓN / INSTITUTION: - Department of Psychology,California State University,Fullerton,CA,USA.  

RESUMEN / SUMMARY: - Twin research in Brazil twin has expanded enormously in recent years, engaging the interests and efforts of many investigators, students and twins. Descriptions and brief summaries of this work and talks given by investigators at local conferences are presented, based on my four-city lecture tour. This is followed by summaries of twin research on infants’ viewing of social scenes, religiosity and substance abuse, Down syndrome, and chronic periodontitis. This article concludes with twin-related news and information of general interest, including identical twin property designers, twins with cerebral palsy, twins affected with the Zika virus, a pair of twin writers, twins in sports, and a set of quadruplets from my childhood neighborhood in Riverdale, New York.

TÍTULO / TITLE:    - Monozygotic twins discordant for trisomy 21: Discussion of etiological events involved.

REVISTA / JOURNAL:    - Taiwan J Obstet Gynecol. 2017 Oct;56(5):681-685. doi: 10.1016/j.tjog.2017.08.019.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.tjog.2017.08.019

AUTORES / AUTHORS: - Chang YL; ... Chang SD;

INSTITUCIÓN / INSTITUTION: - Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Linkou, College of Medicine, Chang Gung University, Taoyuan, Taiwan; Cytogenetic Laboratory, Department of Obstetrics and Gynecology, Tao-Yuan Branch, Chang Gung Memoria   gene@cgmh.org.tw

RESUMEN / SUMMARY: - OBJECTIVE: To elucidate the etiologies of discordant trisomy 21 in monozygotic twin pregnancy. CASE REPORT: A monochorionic diamniotic twin pregnancy with hydrops and cleft lip (twin 1) found in one fetus presented at gestational age of 17 weeks. Amniotic fluid karyotyping showed nonmosaic trisomy 21 in twin 1 (47, XY, +21 [20]) and a normal karyotype in twin 2 (46, XY [20]). Short tandem repeat (STR) polymorphism markers revealed that the two fetuses were monozygotic, and the two chromosomes 21 were maternal isodisomy in the trisomy fetus. The chromosomal constitution of placentas in the territory of trisomy 21 cotwin was 47, XY, +21 [20] and was a mosaic 47, XY+21 [12]/46, XY [8] in the normal karyotyped twin. CONCLUSION: Our case of monozygotic twin with discordant trisomy 21 might start with a prezygotic maternal meiosis II non-disjunction error-caused trisomy 21 zygote, and after twinning, one remained trisomy 21, and the other twin underwent trisomy rescue and became a mosaic trisomy 21 in morula or early blastocyst stage before the formation of pre-embryo, which subsequently resulted in mosaic trisomy 21 of the placental tissue and normal chromosomal constitution of the fetus.

TÍTULO / TITLE:    - Down-klinefelter syndrome (48,XXY,+21) in a neonate associated with congenital heart disease

REVISTA / JOURNAL:    - (2017) Genetics and Molecular Research, 16 (3), art. no. gmr16039780

AUTORES / AUTHORS: - Rodrigues, M.A et al

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - Double aneuploidy is considered a rare phenomenon. Herein, we describe a case of double aneuploidy 48,XXY,+21 in a neonate with congenital heart defects. The 28-day-old neonate male (23-year-old mother and 24-year-old father) was admitted to a neonatal intensive care unit owing to congenital heart disease. Echocardiography showed a complete atrioventricular septal defect with Rastelli type B and significant left ventricular failure, moderate atrioventricular valve regurgitation, right-sided heart failure, and preserved systolic function. Cytogenetic analysis of the newborn showed double aneuploidy 48,XXY,+21. The maternal karyotype was 46,XX,inv(9)(p11q13) and the paternal was 46,XY. Characteristics associated with Down syndrome are observed in newborns; on the other hand, children under 10 months of age and neonates may show little or no signs of the Klinefelter syndrome. According to this study, there seem to be differences between the frequency of congenital heart disease among patients with Down-Klinefelter and Down syndrome. At about 11 months of age, the child died after undergoing heart surgeries. The early cytogenetic study is important for better diagnosis and management of the disease.

GROWTH/DEVELOPMENT - CRECIMIENTO/DESARROLLO

TÍTULO / TITLE:    - Developmental trend of children with Down’s syndrome - How do sex and neonatal conditions influence their developmental patterns?

REVISTA / JOURNAL:    - Brain Dev. 2017 Oct 17. pii: S0387-7604(17)30266-8. doi: 10.1016/j.braindev.2017.10.001.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.braindev.2017.10.001

AUTORES / AUTHORS: - Aoki S; ... Hashimoto K

INSTITUCIÓN / INSTITUTION: - Division of Rehabilitation Medicine and Developmental Evaluation Center, National Center for Child Health and Development, Japan.   hashimoto-k@ncchd.go.jp

RESUMEN / SUMMARY: - This study investigated factors that would influence developmental trend of children with Down’s syndrome (DS) in three different domains (motor, cognitive, language), specifically focusing on the effect of sex and neonatal conditions, including preterm birth, low birth weight, and congenital heart disease (CHD). METHODS: The participants were 158 children with DS (mean age at the initial test=25.5months) receiving clinical service at a rehabilitation center in Yokohama, Japan. Kyoto Scale of Psychological Development was used to measure developmental level, which derive total developmental age (DA), Posture-motor DA, Cognitive-adaptive DA, and Language-social DA. For the analyses, a multilevel model for change was adopted, as the model allowed us to investigate intrapersonal growth and the between-personal factors that are associated with individual differences in the pattern of growth. RESULTS: The developmental speed of children with DS was found to be slower than that of typical children in all the three developmental domains assessed (i.e., the estimated coefficient of the slope for chronological age on DA was less than 1). DS Girls developed significantly faster than boys in non-verbal cognitive and language abilities. Low birth weight and CHD had a significant negative impact on development of non-verbal cognitive abilities for boys, but had a somewhat positive effect for girls. CONCLUSION: As was shown in previous studies, the result of this study indicated that the children with DS develop slower than non-disabled children. Low birth weight and CHD were found to influence developmental trend of children with DS, differently for boys and girls.

TÍTULO / TITLE:    - Bone Mass Assessment in a Cohort of Adults With Down Syndrome: A Cross-Sectional Study.

REVISTA / JOURNAL:    - Intellect Dev Disabil. 2017 Oct;55(5):315-324. doi: 10.1352/1934-9556-55.5.315.

Enlace a la Editora de la Revista http://dx.doi.org/10.1352/1934-9556-55.5.315

AUTORES / AUTHORS: - Costa R; et al.

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - Differences in bone mineral density (BMD) have been observed between adults with Down syndrome (DS) and the general population. The purpose of this article is to describe the prevalence of bone mass disorders in a cohort of adults with DS and their predisposing factors. We performed a cross-sectional study of 104 consecutively recruited adults with DS from an outpatient clinic of a tertiary care hospital in Madrid, España. We recorded epidemiological and anthropometric data, nutritional variables, coexisting clinical conditions, and laboratory variables. BMD was measured at the lumbar spine, total hip, and femoral neck using dual-energy X-ray absorptiometry. The prevalence of osteopenia ranged from 48% to 52%, and that of osteoporosis ranged from 19% to 22% depending on the site of measurement (femoral neck or lumbar spine, respectively). Age was the greatest risk factor associated for lower BMD, with similar bone mass accrual curve but with lower peak of BMD than the general population. We conclude that low bone mass is an extremely prevalent condition in adult patients with DS.

HEMATOLOGY/ONCOLOGY - HEMATOLOGÍA/ONCOLOGÍA

TÍTULO / TITLE:    - Long-term sequelae in survivors of childhood leukemia with Down syndrome: A childhood cancer survivor study report.

REVISTA / JOURNAL:    - Cancer. 2017 Nov 3. doi: 10.1002/cncr.31065.

Enlace a la Editora de la Revista http://dx.doi.org/10.1002/cncr.31065

AUTORES / AUTHORS: - Goldsby RE et al.

INSTITUCIÓN / INSTITUTION: - Clinical Biostatistics and Cancer Prevention, Fred Hutchinson Cancer Research Center, Seattle, Washington.  

RESUMEN / SUMMARY: - BACKGROUND: Children with Down syndrome (DS) are at increased risk of developing acute leukemia and are more prone to acute toxicities. We studied the incidence and severity of chronic health conditions among survivors of childhood leukemia with DS compared with those without DS. METHODS: Chronic health conditions reported by questionnaire were compared between 154 pediatric leukemia survivors with DS and 581 without DS, matched by leukemia, age at diagnosis, race/ethnicity, sex, radiation location and chemotherapy exposure using Cox models to estimate hazard ratios (HRs) and 95% confidence intervals (CIs). Subjects were selected from 7139 5-year survivors of leukemia in the Childhood Cancer Survivor Study. RESULTS: Risk of at least 1 late onset chronic health condition (grade 1-5) was similar in the DS population compared with the non-DS group (HR, 1.1; 95% CI, 0.7-1.5). Serious chronic health conditions (grade 3-5) were more common in DS survivors (HR, 1.7; 95% CI, 1.1-2.6), as were >/= 3 chronic health conditions (grades 1-5) (HR, 1.7; 95% CI, 1.2-2.4). The 25-year cumulative incidence of any condition (grades 1-5) was 83% for DS survivors and 69% for non-DS survivors. CONCLUSION: Leukemia survivors with DS have therapy-related chronic health conditions comparable to those of similarly treated survivors without DS, with a few notable exceptions: 1) an increased risk of cataracts, hearing loss, and thyroid dysfunction compared with survivors without DS (though these are known risks in the DS population), 2) decreased risk of second cancers, and 3) increased risk of severe or multiple conditions. Practitioners should be aware of these risks during and after therapy. Cancer 2017. © 2017 American Cancer Society.

TÍTULO / TITLE:    - Outcome of acute lymphoblastic leukemia in children with down syndrome-Polish pediatric leukemia and lymphoma study group report.

REVISTA / JOURNAL:    - Pediatr Hematol Oncol. 2017 May;34(4):199-205. doi: 10.1080/08880018.2017.1363837. Epub 2017 Oct 17.

Enlace a la Editora de la Revista http://dx.doi.org/10.1080/08880018.2017.1363837

AUTORES / AUTHORS: - Zawitkowska J; et al

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - Children with Down syndrome (DS) have a 20-fold increased risk of developing leukemia compared with the general population. The aim of the study was to analyze the outcome of patients diagnosed with Down syndrome and acute lymphoblastic leukemia (ALL) in Poland between the years 2003 and 2010. A total of 1848 children were diagnosed with ALL (810 females and 1038 males). Of those, 41 (2.2%) had DS. The children were classified into three risk groups: a standard-risk group-14 patients, an intermediate-risk group-24, a high-risk group-3. All patients were treated according to ALLIC 2002 protocol. The median observation time of all patients was 6.1 years, and in patients with DS 5.3 years. Five-year overall survival (OS) was the same in all patients (86% vs 86%, long-rank test, p = .9). The relapse-free survival (RFS) was calculated as 73% in patients with DS and 81% in patients without DS during a median observation time (long-rank test, p = .3). No statistically significant differences were found in the incidence of nonrelapse mortality between those two groups of patients (p = .72). The study was based on children with ALL and Down syndrome who were treated with an identical therapy schedule as ALL patients without DS, according to risk group. This fact can increase the value of the presented results.

TÍTULO / TITLE:    - Acute myeloid leukemia with t(14;21) involving RUNX1 and SYNE2: A novel favorable-risk translocation?

REVISTA / JOURNAL:    - Cancer Genet. 2017 Oct;216-217:74-78. doi: 10.1016/j.cancergen.2017.07.002. Epub 2017 Jul 31.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.cancergen.2017.07.002

AUTORES / AUTHORS: - Foley N; ... Mannis GN;

INSTITUCIÓN / INSTITUTION: - Division of Hematology/Blood and Marrow Transplantation, Department of Medicine, University of California, San Francisco, CA.   gabriel.mannis@ucsf.edu

RESUMEN / SUMMARY: - In acute myeloid leukemia (AML), a translocation between chromosomes 8q22 and 21q22 leads to the RUNX1-RUNXT1 fusion gene which, in the absence of a concomitant KIT mutation, generally portends a more favorable prognosis. Translocations at 21q22, other than those involving 8q22, are uncommon, and the specific prognostic and therapeutic implications are accordingly limited by the small number of reported cases. In this report, we describe the case of a 67-year-old gentleman who presented with AML harboring t(14;21)(q23;q22). Subsequent molecular analysis revealed mutations in RUNX1, ASXL1, and SF3B1, with translocation breakpoints identified within SYNE2 on chromosome 14 and RUNX1 on chromosome 21. The functional consequence of the DNA fusion between SYNE2 and RUNX1 is unclear. Nonetheless, despite several adverse risk factors associated with this patient’s AML, he achieved a long-lasting remission with standard chemotherapy alone, potentially suggestive of a novel favorable-risk translocation in AML involving 21q22.

INFECTIOUS DISEASES - INFECCIONES

TÍTULO / TITLE:    - The TRPM2 ion channel contributes to cytokine hyperproduction in a mouse model of Down Syndrome.

REVISTA / JOURNAL:    - Biochim Biophys Acta. 2018 Jan;1864(1):126-132. doi: 10.1016/j.bbadis.2017.09.025. Epub 2017 Sep 30.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.bbadis.2017.09.025

AUTORES / AUTHORS: - Gally F; ... Perraud AL;

INSTITUCIÓN / INSTITUTION: - Linda Crnic Institute for Down Syndrome Research, CO, United States; National Jewish Health, Dept. of Biomedical Research, CO, United States; University of Colorado Denver, Dept. of Immunology and Microbiology, United States.   perrauda@njhealth.org

RESUMEN / SUMMARY: - Trisomy 21 (Down Syndrome, DS) is the most common chromosomal anomaly. Although DS is mostly perceived as affecting cognitive abilities and cardiac health, individuals with DS also exhibit dysregulated immune functions. Levels of pro-inflammatory cytokines are increased, but intrinsic alterations of innate immunity are understudied in DS. Furthermore, elevated Reactive Oxygen Species (ROS) are well documented in individuals with DS, further exacerbating inflammatory processes. Chronic inflammation and oxidative stress are often precursors of subsequent tissue destruction and pathologies, which affect a majority of persons with DS. Together with ROS, the second messenger ion Ca(2+) plays a central role in immune regulation. TRPM2 (Transient Receptor Potential Melastatin 2) is a Ca(2+)-permeable ion channel that is activated under conditions of oxidative stress. The Trpm2 gene is located on human Chromosome 21 (Hsa21). TRPM2 is strongly represented in innate immune cells, and numerous studies have documented its role in modulating inflammation. We have previously found that as a result of suboptimal cytokine production, TRPM2(-/-) mice are highly susceptible to the bacterial pathogen Listeria monocytogenes (Lm). We therefore used Lm infection to trigger and characterize immune responsiveness in the DS mouse model Dp10(yey), and to investigate the potential contribution of TRPM2. In comparison to wildtype (WT), Dp10(yey) mice show an increased resistance against Lm infection and higher IFNgamma serum concentrations. Using a gene elimination approach, we show that these effects correlate with Trpm2 gene copy number, supporting the notion that Trpm2 might promote hyperinflammation in DS.

TÍTULO / TITLE:    - Trisomy 21 causes changes in the circulating proteome indicative of chronic autoinflammation.

REVISTA / JOURNAL:    - Sci Rep. 2017 Nov 1;7(1):14818. doi: 10.1038/s41598-017-13858-3.

Enlace a la Editora de la Revista http://dx.doi.org/10.1038/s41598-017-13858-3

AUTORES / AUTHORS: - Sullivan KD; ... Blumenthal T;

INSTITUCIÓN / INSTITUTION: - Linda Crnic Institute for Down Syndrome, University of Colorado School of Medicine, Aurora, Colorado, 80045, USA   thomas.blumenthal@ucdenver.edu

RESUMEN / SUMMARY: - Trisomy 21 (T21) causes Down syndrome (DS), but the mechanisms by which T21 produces the different disease spectrum observed in people with DS are unknown. We recently identified an activated interferon response associated with T21 in human cells of different origins, consistent with overexpression of the four interferon receptors encoded on chromosome 21, and proposed that DS could be understood partially as an interferonopathy. However, the impact of T21 on systemic signaling cascades in living individuals with DS is undefined. To address this knowledge gap, we employed proteomics approaches to analyze blood samples from 263 individuals, 165 of them with DS, leading to the identification of dozens of proteins that are consistently deregulated by T21. Most prominent among these proteins are numerous factors involved in immune control, the complement cascade, and growth factor signaling. Importantly, people with DS display higher levels of many pro-inflammatory cytokines (e.g. IL-6, MCP-1, IL-22, TNF-alpha) and pronounced complement consumption, resembling changes seen in type I interferonopathies and other autoinflammatory conditions. Therefore, these results are consistent with the hypothesis that increased interferon signaling caused by T21 leads to chronic immune dysregulation, and justify investigations to define the therapeutic value of immune-modulatory strategies in DS.

MOLECULAR BIOLOGY/BIOCHEMISTRY - BIOLOGÍA MOLECULAR/BIOQUÍMICA

TÍTULO / TITLE:    - Dysfunctions of mitochondria in close association with strong perturbation of long noncoding RNAs expression in down syndrome.

REVISTA / JOURNAL:    - Int J Biochem Cell Biol. 2017 Nov;92:115-120. doi: 10.1016/j.biocel.2017.09.017. Epub 2017 Sep 29

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.biocel.2017.09.017

AUTORES / AUTHORS: - Qiu JJ; et al.

INSTITUCIÓN / INSTITUTION: - Shanghai Children’s Hospital, Shanghai Institute of Medical Genetics, Shanghai Jiao Tong University School of Medicine, Shanghai 200040, China.   jiajunqiu@hotmail.com

RESUMEN / SUMMARY: - Trisomy 21 is the most common chromosomal disorder and underlies Down syndrome. Epigenetics, such as DNA methylation and post-translational histone modifications, plays a vital role in Down syndrome. However, the functions of epigenetics-related long noncoding RNAs (lncRNAs), found to have an impact on neural diseases such as Alzheimer’s disease, remain unknown in Down syndrome. In this study, we analyzed the RNA sequencing data from Down syndrome-induced pluripotent stem cells (iPSCs) and normal iPSCs. A large number of lncRNAs were identified differentially expressed in Down syndrome-iPSCs. Notably, stronger perturbation was shown in the expression of lncRNAs compared to protein coding genes (Kolmogorov-Smirnov test, P<0.05), suggesting that lncRNAs play more important roles in Down syndrome. Through gene set enrichment analysis and bi-clustering, we also found that most of the differential expressed lncRNAs were closely associated with mitochondrial functions (e.g. mitochondrion organization, P=3.21x10(-17); mitochondrial ATP synthesis coupled electron transport, P=1.73x10(-19) and mitochondrial membrane organization, P=4.04x10(-8)). PCR-array and qRT-PCR results revealed that almost all genes related to mitochondria were down-regulated in Down syndrome-iPSCs, implying that mitochondria were dysfunctional in Down syndrome (e.g. ATP5B, Fold Change=-8.2317; COX6A1, Fold Change=-12.7788 and SLC25A17, Fold Change=-22.1296). All in all, our study indicated that a stronger perturbation of lncRNAs expression may lead to the dysfunction of mitochondria in Down syndrome.

TÍTULO / TITLE:    - Systematic proteome and proteostasis profiling in human Trisomy 21 fibroblast cells.

REVISTA / JOURNAL:    - Nat Commun. 2017 Oct 31;8(1):1212. doi: 10.1038/s41467-017-01422-6.

Enlace a la Editora de la Revista http://dx.doi.org/10.1038/s41467-017-01422-6

AUTORES / AUTHORS: - Liu Y ... Antonarakis SE

INSTITUCIÓN / INSTITUTION: - Department of Genetic Medicine and Development, University of Geneva Medical School, and University Hospitals of Geneva, 1211, Geneva, Switzerland.   Stylianos.Antonarakis@unige.ch

RESUMEN / SUMMARY: - Down syndrome (DS) is mostly caused by a trisomy of the entire Chromosome 21 (Trisomy 21, T21). Here, we use SWATH mass spectrometry to quantify protein abundance and protein turnover in fibroblasts from a monozygotic twin pair discordant for T21, and to profile protein expression in 11 unrelated DS individuals and matched controls. The integration of the steady-state and turnover proteomic data indicates that protein-specific degradation of members of stoichiometric complexes is a major determinant of T21 gene dosage outcome, both within and between individuals. This effect is not apparent from genomic and transcriptomic data. The data also reveal that T21 results in extensive proteome remodeling, affecting proteins encoded by all chromosomes. Finally, we find broad, organelle-specific post-transcriptional effects such as significant downregulation of the mitochondrial proteome contributing to T21 hallmarks. Overall, we provide a valuable proteomic resource to understand the origin of DS phenotypic manifestations.

TÍTULO / TITLE:    - Inhibition of Drp1-mediated mitochondrial fission improves mitochondrial dynamics and bioenergetics stimulating neurogenesis in hippocampal progenitor cells from a Down syndrome mouse model

REVISTA / JOURNAL:    - (2017) Biochimica et Biophysica Acta - Molecular Basis of Disease, 1863 (12), pp. 3117-31 27. DOI: 1

AUTORES / AUTHORS: - Valenti, D., et al

INSTITUCIÓN / INSTITUTION: - Institute of Biomembranes, Bioenergetics and Molecular Biotechnologies, National Council of Research, Bari, Italy  

RESUMEN / SUMMARY: - Functiona l and structural damages to mitochondria have been critically associated with the pathogenesis of Down syndrome (DS), a human multifactorial disease caused by trisomy of chromosome 21 and associated with neurodevelopmental delay, intellectual disability and early neurodegeneration. Recently, we demonstrated in neural progenitor cells (NPCs) isolated from the hippocampus of Ts65Dn mice -a widely used model of DS - a severe impairment of mitochondrial bioenergetics and biogenesis and reduced NPC proliferation. Here we further investigated the origin of mitochondrial dysfunction in DS and explored a possible mechanistic link among alteration of mitochondrial dynamics, mitochondrial dysfunctions and defective neurogenesis in DS. We first analyzed mitochondrial network and structure by both confocal and transmission electron microscopy as well as by evaluating the levels of key proteins involved in the fission and fusion machinery. We found a fragmentation of mitochondria due to an increase in mitochondrial fission associated with an up-regulation of dynamin-related protein 1 (Drp1), and a decrease in mitochondrial fusion associated with a down-regulation of mitofusin 2 (Mnf2) and increased proteolysis of optic atrophy 1 (Opa1). Next, using the well-known neuroprotective agent mitochondrial division inhibitor 1 (Mdivi-1), we assessed whether the inhibition of mitochondrial fission might reverse alteration of mitochondrial dynamics and mitochondrial dysfunctions in DS neural progenitors cells. We demonstrate here for the first time, that Mdivi-1 restores mitochondrial network organization, mitochondrial energy production and ultimately improves proliferation and neuronal differentiation of NPCs. This research paves the way for the discovery of new therapeutic tools in managing some DS-associated clinical manifestations.

TÍTULO / TITLE:    - Transcriptome Profiling Uncovers Potential Common Mechanisms in Fetal Trisomies 18 and 21

REVISTA / JOURNAL:    - (2017) OMICS A Journal of Integrative Biology, 21 (10), pp. 565-570. DOI: 10.1089/omi.2017.0123

AUTORES / AUTHORS: - Volk, M.,et al

INSTITUCIÓN / INSTITUTION: - Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, Ljubljana, Slovenia  

RESUMEN / SUMMARY: - Human trisomies have recently been investigated using transcriptomics approaches to identify the gene expression (GE) signatures characteristic of each of these specific aneuploidy conditions. We hypothesized that the viability of cells with gross genomic imbalances might be associated with the activation of resilience mechanisms that are common to different trisomies and that are reflected by specific shared GE patterns. We report in this article our microarray GE analyses of amniocytes from fetuses with viable trisomy conditions, trisomy 21 or trisomy 18, to detect such common expression signatures. Comparative analysis of significantly differentially expressed genes in trisomies 18 and 21 revealed six dysregulated genes common to both: OTUD5, ADAMTSL1, TADA2A, PPID, PIAS2, and MAPRE2. These genes are involved in ubiquitination, protein folding, cell proliferation, and apoptosis. Pathway-based enrichment analyses demonstrated that both trisomies showed dysregulation of the PI3K/AKT pathway, cell cycle G2/M DNA damage checkpoint regulation, and cell death and survival, as well as inhibition of the upstream regulator TP53. Our data collectively suggest that trisomies 18 and 21 share common functional GE signatures, implying that common mechanisms of resilience might be activated in aneuploid cells to resist large genomic imbalances. To the best of our knowledge, this is the first study to use global GE profiling data to identify potential common mechanisms in fetal trisomies. Studies of other trisomies using transcriptomics and multiomics approaches might further clarify mechanisms activated in trisomy syndromes.

TÍTULO / TITLE:    - A comprehensive diverse ‘-omics’ approach to better understanding the molecular pathomechanisms of Down syndrome.

REVISTA / JOURNAL:    - (2017) Brain Sciences, 7 (4), art. no. 44, . DOI: 10.3390/BRAINSCI7040044

AUTORES / AUTHORS: - Ishihara, K., Akiba, S.

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - Diverse ‘-omics’ technologies permit the comprehensive quantitative profiling of a variety of biological molecules. Comparative ‘-omics’ analyses, such as transcriptomics and proteomics, are powerful and useful tools for unraveling the molecular pathomechanisms of various diseases. As enhanced oxidative stress has been demonstrated in humans and mice with Down syndrome (DS), a redox proteomic analysis is useful for understanding how enhanced oxidative stress aggravates the state of individuals with oxidative stress-related disorders. In this review, ‘-omics’ analyses in humans with DS and mouse models of DS are summarized, and the molecular dissection of this syndrome is discussed.

NEUROBIOLOGY - NEUROBIOLOGÍA

TÍTULO / TITLE:    - From altered synaptic plasticity to atypical learning: A computational model of Down syndrome.

REVISTA / JOURNAL:    - Cognition. 2017 Nov 2;171:15-24. doi: 10.1016/j.cognition.2017.10.021

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.cognition.2017.10.021

AUTORES / AUTHORS: - Tovar AE; et al

INSTITUCIÓN / INSTITUTION: - Department of Psychology, Lancaster University, Lancaster LA1 4YF, United Kingdom; Facultad de Psicologia, Universidad Nacional Autonoma de Mexico, Av. Universidad 3004, 04510, Coyoacan, Mexico.   eugeniot@comunidad.unam.mx

RESUMEN / SUMMARY: - Learning and memory rely on the adaptation of synaptic connections. Research on the neurophysiology of Down syndrome has characterized an atypical pattern of synaptic plasticity with limited long-term potentiation (LTP) and increased long-term depression (LTD). Here we present a neurocomputational model that instantiates this LTP/LTD imbalance to explore its impact on tasks of associative learning. In Study 1, we ran a series of computational simulations to analyze the learning of simple and overlapping stimulus associations in a model of Down syndrome compared with a model of typical development. Learning in the Down syndrome model was slower and more susceptible to interference effects. We found that interference effects could be overcome with dedicated stimulation schedules. In Study 2, we ran a second set of simulations and an empirical study with participants with Down syndrome and typically developing children to test the predictions of our model. The model adequately predicted the performance of the human participants in a serial reaction time task, an implicit learning task that relies on associative learning mechanisms. Critically, typical and atypical behavior was explained by the interactions between neural plasticity constraints and the stimulation schedule. Our model provides a mechanistic account of learning impairments based on these interactions, and a causal link between atypical synaptic plasticity and associative learning.

TÍTULO / TITLE:    - Down Syndrome iPSC-Derived Astrocytes Impair Neuronal Synaptogenesis and the mTOR Pathway In Vitro.

REVISTA / JOURNAL:    - Mol Neurobiol. 2017 Nov 11. pii: 10.1007/s12035-017-0818-6. doi: 10.1007/s12035-017-0818-6.

Enlace a la Editora de la Revista http://dx.doi.org/10.1007/s12035-017-0818-6

AUTORES / AUTHORS: - Araujo BHS; et al.

INSTITUCIÓN / INSTITUTION: - Department of Neurosurgery and Neurology, Laboratory of Neuroscience, Universidade Federal de Sao Paulo (UNIFESP/EPM), Sao Paulo, Sao Paulo, Brazil.   bruno.araujo@lnbio.cnpem.br

RESUMEN / SUMMARY: - Several methods have been used to study the neuropathogenesis of Down syndrome (DS), such as mouse aneuploidies, post mortem human brains, and in vitro cell culture of neural progenitor cells. More recently, induced pluripotent stem cell (iPSC) technology has offered new approaches in investigation, providing a valuable tool for studying specific cell types affected by DS, especially neurons and astrocytes. Here, we investigated the role of astrocytes in DS developmental disease and the impact of the astrocyte secretome in neuron mTOR signaling and synapse formation using iPSC derived from DS and wild-type (WT) subjects. We demonstrated for the first time that DS neurons derived from hiPSC recapitulate the hyperactivation of the Akt/mTOR axis observed in DS brains and that DS astrocytes may play a key role in this dysfunction. Our results bear out that 21 trisomy in astrocytes contributes to neuronal abnormalities in addition to cell autonomous dysfunctions caused by 21 trisomy in neurons. Further research in this direction will likely yield additional insights, thereby improving our understanding of DS and potentially facilitating the development of new therapeutic approaches.

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

REVISTA / JOURNAL:    - J Neurogenet. 2017 Oct 27:1-8. doi: 10.1080/01677063.2017.1391250.

Enlace a la Editora de la Revista http://dx.doi.org/10.1080/01677063.2017.1391250

AUTORES / AUTHORS: - Montesinos ML

INSTITUCIÓN / INSTITUTION: -  

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

TÍTULO / TITLE:    - Zebrafish knockout of Down syndrome gene, DYRK1A, shows social impairments relevant to autism.

REVISTA / JOURNAL:    - Mol Autism. 2017 Sep 29;8:50. doi: 10.1186/s13229-017-0168-2. eCollection 2017.

Enlace a la Editora de la Revista http://dx.doi.org/10.1186/s13229-017-0168-2

AUTORES / AUTHORS: - Kim OH; et al.

INSTITUCIÓN / INSTITUTION: - Department of Biology, Chungnam National University, Daejeon, 34134 Republic of Korea.0000 0001 0722 6377grid.254230.2; Korean Research Institute of Biosciences and Biotechnology, Daejeon, 34141 Republic of Korea.  

RESUMEN / SUMMARY: - BACKGROUND: DYRK1A maps to the Down syndrome critical region at 21q22. Mutations in this kinase-encoding gene have been reported to cause microcephaly associated with either intellectual disability or autism in humans. Intellectual disability accompanied by microcephaly was recapitulated in a murine model by overexpressing Dyrk1a which mimicked Down syndrome phenotypes. However, given embryonic lethality in homozygous knockout (KO) mice, no murine model studies could present sufficient evidence to link Dyrk1a dysfunction with autism. To understand the molecular mechanisms underlying microcephaly and autism spectrum disorders (ASD), we established an in vivo dyrk1aa KO model using zebrafish. METHODS: We identified a patient with a mutation in the DYRK1A gene using microarray analysis. Circumventing the barrier of murine model studies, we generated a dyrk1aa KO zebrafish using transcription activator-like effector nuclease (TALEN)-mediated genome editing. For social behavioral tests, we have established a social interaction test, shoaling assay, and group behavior assay. For molecular analysis, we examined the neuronal activity in specific brain regions of dyrk1aa KO zebrafish through in situ hybridization with various probes including c-fos and crh which are the molecular markers for stress response. RESULTS: Microarray detected an intragenic microdeletion of DYRK1A in an individual with microcephaly and autism. From behavioral tests of social interaction and group behavior, dyrk1aa KO zebrafish exhibited social impairments that reproduce human phenotypes of autism in a vertebrate animal model. Social impairment in dyrk1aa KO zebrafish was further confirmed by molecular analysis of c-fos and crh expression. Transcriptional expression of c-fos and crh was lower than that of wild type fish in specific hypothalamic regions, suggesting that KO fish brains are less activated by social context. CONCLUSIONS: In this study, we established a zebrafish model to validate a cand

TÍTULO / TITLE:    - GABAA receptor subunit deregulation in the hippocampus of human foetuses with Down syndrome.

REVISTA / JOURNAL:    - Brain Struct Funct. 2017 Nov 22. pii: 10.1007/s00429-017-1563-3. doi: 10.1007/s00429-017-1563-3.

Enlace a la Editora de la Revista http://dx.doi.org/10.1007/s00429-017-1563-3

AUTORES / AUTHORS: - Milenkovic I et al.

INSTITUCIÓN / INSTITUTION: - Neurodegeneration Research Group, Institute of Neurology, Medical University of Vienna, Vienna, Austria.  

RESUMEN / SUMMARY: - The function, regulation and cellular distribution of GABAA receptor subunits have been extensively documented in the adult rodent brain and are linked to numerous neurological disorders. However, there is a surprising lack of knowledge on the cellular (sub-) distribution of GABAA receptor subunits and of their expressional regulation in developing healthy and diseased foetal human brains. To propose a role for GABAA receptor subunits in neurodevelopmental disorders, we studied the developing hippocampus of normal and Down syndrome foetuses. Among the alpha1-3 and gamma2 subunits probed, we find significantly altered expression profiles of the alpha1, alpha3 and gamma2 subunits in developing Down syndrome hippocampi, with the alpha3 subunit being most affected. alpha3 subunits were selectively down-regulated in all hippocampal subfields and developmental periods tested in Down syndrome foetuses, presenting a developmental mismatch by their adult-like distribution in early foetal development. We hypothesized that increased levels of the amyloid precursor protein (APP), and particularly its neurotoxic beta-amyloid (1-42) fragment, could disrupt alpha3 gene expression, likely by facilitating premature neuronal differentiation. Indeed, we find increased APP content in the hippocampi of the Down foetuses. In a corresponding cellular model, soluble beta-amyloid (1-42) administered to cultured SH-SY5Y neuroblastoma cells, augmented by retinoic acid-induced differentiation towards a neuronal phenotype, displayed a reduction in alpha3 subunit levels. In sum, this study charts a comprehensive regional and subcellular map of key GABAA receptor subunits in identified neuronal populations in the hippocampus of healthy and Down syndrome foetuses and associates increased beta-amyloid load with discordant down-regulation of alpha3 subunits.

TÍTULO / TITLE:    - GABAergic over-inhibition, a promising hypothesis for cognitive deficits in Down syndrome

REVISTA / JOURNAL:    - 2017) Free Radical Biology and Medicine, Article in Press. DOI: 10.1016/j.freeradbiomed.2017.10.002

AUTORES / AUTHORS: - Javier, Z.D.S.M., et al.

INSTITUCIÓN / INSTITUTION: - INSERM U1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMRS 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France  

RESUMEN / SUMMARY: - Down syndrome (DS), also known as trisomy 21, is the most common genetic cause of intellectual disability. It is also a model human disease for exploring consequences of gene dosage imbalance on complex phenotypes. Learning and memory impairments linked to intellectual disabilities in DS could result from synaptic plasticity deficits and excitatory-inhibitory alterations leading to changes in neuronal circuitry in the brain of affected individuals. Increasing number of studies in mouse and cellular models converge towards the assumption that excitatory-inhibitory imbalance occurs in DS, likely early during development. Thus increased inhibition appears to be a common trend that could explain synaptic and circuit disorganization. Interestingly using several potent pharmacological tools, preclinical studies strongly demonstrated that cognitive deficits could be restored in mouse models of DS. Clinical trials have not yet provided robust data for therapeutic application and additional studies are needed. Here we review the literature and our own published work emphasizing the over-inhibition hypothesis in DS and their links with gene dosage imbalance paving the way for future basic and clinical research.

TÍTULO / TITLE:    - Inhibition of Drp1-mediated mitochondrial fission improves mitochondrial dynamics and bioenergetics stimulating neurogenesis in hippocampal progenitor cells from a Down syndrome mouse model

REVISTA / JOURNAL:    - (2017) Biochimica et Biophysica Acta - Molecular Basis of Disease, 1863 (12), pp. 3117-31 27. DOI: 1

AUTORES / AUTHORS: - Valenti, D., et al

INSTITUCIÓN / INSTITUTION: - Institute of Biomembranes, Bioenergetics and Molecular Biotechnologies, National Council of Research, Bari, Italy  

RESUMEN / SUMMARY: - Functiona l and structural damages to mitochondria have been critically associated with the pathogenesis of Down syndrome (DS), a human multifactorial disease caused by trisomy of chromosome 21 and associated with neurodevelopmental delay, intellectual disability and early neurodegeneration. Recently, we demonstrated in neural progenitor cells (NPCs) isolated from the hippocampus of Ts65Dn mice -a widely used model of DS - a severe impairment of mitochondrial bioenergetics and biogenesis and reduced NPC proliferation. Here we further investigated the origin of mitochondrial dysfunction in DS and explored a possible mechanistic link among alteration of mitochondrial dynamics, mitochondrial dysfunctions and defective neurogenesis in DS. We first analyzed mitochondrial network and structure by both confocal and transmission electron microscopy as well as by evaluating the levels of key proteins involved in the fission and fusion machinery. We found a fragmentation of mitochondria due to an increase in mitochondrial fission associated with an up-regulation of dynamin-related protein 1 (Drp1), and a decrease in mitochondrial fusion associated with a down-regulation of mitofusin 2 (Mnf2) and increased proteolysis of optic atrophy 1 (Opa1). Next, using the well-known neuroprotective agent mitochondrial division inhibitor 1 (Mdivi-1), we assessed whether the inhibition of mitochondrial fission might reverse alteration of mitochondrial dynamics and mitochondrial dysfunctions in DS neural progenitors cells. We demonstrate here for the first time, that Mdivi-1 restores mitochondrial network organization, mitochondrial energy production and ultimately improves proliferation and neuronal differentiation of NPCs. This research paves the way for the discovery of new therapeutic tools in managing some DS-associated clinical manifestations.

NEUROLOGY - NEUROLOGÍA

TÍTULO / TITLE:    - Craniospinal Germinomas in Patient with Down Syndrome Successfully Treated with Standard-Dose Chemotherapy and Craniospinal Irradiation: Case Report and Literature Review

REVISTA / JOURNAL:    - (2017) World Neurosurgery, . Article in Press. 

AUTORES / AUTHORS: - Miyake, Y., et al

INSTITUCIÓN / INSTITUTION: - Department of Neuro-Oncology/Neurosurgery, Saitama Medical University International Medical Center, Hidaka, Saitama, Japan  

RESUMEN / SUMMARY: - Background: Patients with Down syndrome (DS) are more likely to develop chemotherapy-related complications. The standard treatment for these patients with cancer has not yet been established, and the risks of standard chemotherapy are unclear. In this paper, a rare case of multiple craniospinal germinomas in a patient with DS, which was successfully treated with standard-dose chemotherapy combined with craniospinal irradiation, is reported. Case Description: The authors report a case of multiple craniospinal germinomas in a DS patient who presented with bilateral oculomotor and facial nerve palsy and hearing loss. The patient underwent 3 courses of combination chemotherapy using a standard dose of carboplatin and etoposide and 23.4 Gy of concurrent craniospinal irradiation. Posttreatment magnetic resonance imaging showed reduction of the tumors. Both fluorodeoxyglucose- and methionine-positron emission tomography demonstrated no uptake in the residual tumors. Follow-up magnetic resonance imaging and positron emission tomography did not reveal tumor recurrence for 18 months. Conclusions: As far as we know, this is the first case of multiple craniospinal germinomas in a patient with DS who achieved a successful treatment result without fatal adverse events. The literature review indicated that disseminated germinomas may need intensive treatment to reduce recurrence risk. However, intensive chemotherapy using a combination of 3 or more anticancer drugs can increase the rate of treatment-related death during the early stage. Our case indicated that multiple craniospinal germinoma of DS patients could be treated with a standard dose of carboplatin and etoposide regimen with concurrent craniospinal irradiation along with appropriate supportive therapy and careful observation.

TÍTULO / TITLE:    - Infantile Spasms

REVISTA / JOURNAL:    - (2017) Models of Seizures and Epilepsy: Second Edition, pp. 977-993. DOI: 10.1016/B978-0-12-804066-9

AUTORES / AUTHORS: - Galanopoulou, A.S., Moshé, S.L.

INSTITUCIÓN / INSTITUTION: - Albert Einstein College of Medicine, Bronx, NY, United States  

RESUMEN / SUMMARY: - West syndrome is an infantile epileptic encephalopathy with infantile spasms that are characteristic seizures associated with electrodecremental responses, hypsarrhythmia, and intellectual disabilities. There is a need to develop better therapies for West syndrome. Several rodent models of infantile spasms have been developed recently to elucidate the pathogenesis, and help identify new treatments. These are acute models, in which spasms occur only immediately after induction, and chronic models of infantile spasms that recapitulate many features of the syndrome. In this chapter, we are summarizing the main features and findings stemming from these models, as well as discuss their utility in the development of treatments for infantile spasms, other associated seizures, and their comorbidities.

OPHTALMOLOGY - OFTALMOLOGÍA

TÍTULO / TITLE:    - A Case of Endophthalmitis After Bilateral M edial Rectus Recession

REVISTA / JOURNAL:    - (2017) Journal of pediatric ophthalmology and strabismus, 54, pp. e37-e 41. DOI: 10.3928/01913913-20

AUTORES / AUTHORS: - Patel, S.B., et al

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - A 9-mont h-old male infant with a history of Down syndrome underwent bilateral medial rectus recession. Two weeks postoperatively, he developed leukocoria of the left eye with a white opacity posterior to the lens, numerous undulations, necrosis, and hemorrhages in the retrolental space. His contralateral eye had white retinal lesions nasally. Ultrasound examination of the left eye showed a funnel retinal detachment, loculated debris, and a small, central, hyperechoic area concerning for calcification. He underwent enucleation because retinoblastoma could not be definitively ruled out. Given this patient`s low visual potential, enucleation was a definitive and safe treatment option. Ocular pathology showed significant inflammation and necrosis. There was an area of scleral perforation by a suture adherent to the retina and vitreous, surrounded by inflammatory cells. This case uniquely demonstrates pediatric endophthalmitis following strabismus surgery, secondary to scleral perforation confirmed by histopathological analysis. Care must be taken during scleral passage of sutures to prevent inadvertent scleral perforation and the potential complication of endophthalmitis. [J Pediatr Ophthalmol Strabismus. 2017;54:e37-e41.].

ORTHOPEDICS - ORTOPEDÍA

TÍTULO / TITLE:    - Acetabular Global Insufficiency in Patients with Down Syndrome and Hip-Related Symptoms: A Matched-Cohort Study.

REVISTA / JOURNAL:    - J Bone Joint Surg Am. 2017 Oct 18;99(20):1760-1768. doi: 10.2106/JBJS.17.00341.

Enlace a la Editora de la Revista http://dx.doi.org/10.2106/JBJS.17.00341

AUTORES / AUTHORS: - Bulat E; et al.

INSTITUCIÓN / INSTITUTION: - 1Department of Orthopedic Surgery (E.B., D.A.M., M.B.M., Y.-J.K., and E.N.N.) and Clinical Research Center (L.A.K.), Boston Children’s Hospital, Boston, Massachusetts 2Ribeirao Preto Medical School, University of Sao Paulo, Sao Paulo, Brazi  

RESUMEN / SUMMARY: - BACKGROUND: The etiology of hip instability in Down syndrome is not completely understood. We investigated the morphology of the acetabulum and femur in patients with Down syndrome and compared measurements of the hips with those of matched controls. METHODS: Computed tomography (CT) images of the pelvis of 42 patients with Down syndrome and hip symptoms were compared with those of 42 age and sex-matched subjects without Down syndrome or history of hip disease who had undergone CT for abdominal pain. Each of the cohorts had 23 male and 19 female subjects. The mean age (and standard deviation) in each cohort was 11.3 +/- 5.3 years. The lateral center-edge angle (LCEA), acetabular inclination angle (IA), acetabular depth-width ratio (ADR), acetabular version, and anterior and posterior acetabular sector angles (AASA and PASA) were compared. The neck-shaft angle and femoral version were measured in the patients with Down syndrome only. The hips of the patients with Down syndrome were further categorized as stable (n = 21) or unstable (n = 63) for secondary analysis. RESULTS: The hips in the Down syndrome group had a smaller LCEA (mean, 10.8 degrees +/- 12.6 degrees compared with 25.6 degrees +/- 4.6 degrees ; p < 0.0001), a larger IA (mean, 17.4 degrees +/- 10.3 degrees compared with 10.9 degrees +/- 4.8 degrees ; p < 0.0001), a lower ADR (mean, 231.9 +/- 56.2 compared with 306.8 +/- 31.0; p < 0.0001), a more retroverted acetabulum (mean acetabular version as measured at the level of the centers of the femoral heads [AVC], 7.8 degrees +/- 5.1 degrees compared with 14.0 degrees +/- 4.5 degrees ; p < 0.0001), a smaller AASA (mean, 55.0 degrees +/- 9.9 degrees compared with 59.7 degrees +/- 7.8 degrees ; p = 0.005), and a smaller PASA (mean, 67.1 degrees +/- 10.4 degrees compared with 85.2 degrees +/- 6.8 degrees ; p < 0.0001). Within the Down syndrome cohort, the unstable hips showed greater femoral anteversion (mean, 32.7 degrees +/- 14.6 degrees compared with 23.6 degr

PHYSIOTHERAPY - FISIOTERAPIA

TÍTULO / TITLE:    - Analysis of Movement Acceleration of Down’s Syndrome Teenagers Playing Computer Games.

REVISTA / JOURNAL:    - Games Health J. 2017 Dec;6(6):358-364. doi: 10.1089/g4h.2017.0026. Epub 2017 Oct 10.

Enlace a la Editora de la Revista http://dx.doi.org/10.1089/g4h.2017.0026

AUTORES / AUTHORS: - Carrogi-Vianna D; et al.

INSTITUCIÓN / INSTITUTION: - 1 Post-Graduate Program in Developmental Disorders, Mackenzie Presbyterian University , Sao Paulo, Brazil  

RESUMEN / SUMMARY: - OBJECTIVE: This study aimed to evaluate movement acceleration characteristics in adolescents with Down syndrome (DS) and typical development (TD), while playing bowling and golf videogames on the Nintendo(®) Wii. MATERIALS AND METHODS: The sample comprised 21 adolescents diagnosed with DS and 33 with TD of both sexes, between 10 and 14 years of age. The arm swing accelerations of the dominant upper limb were collected as measures during the bowling and the golf games. The first valid measurement, verified by the software readings, recorded at the start of each of the games, was used in the analysis. RESULTS: In the bowling game, the groups presented significant statistical differences, with the maximum (M) peaks of acceleration for the Male Control Group (MCG) (M = 70.37) and Female Control Group (FCG) (M = 70.51) when compared with Male Down Syndrome Group (MDSG) (M = 45.33) and Female Down Syndrome Group (FDSG) (M = 37.24). In the golf game the groups also presented significant statistical differences, the only difference being that the maximum peaks of acceleration for both male groups were superior compared with the female groups, MCG (M = 74.80) and FCG (M = 56.80), as well as in MDSG (M = 45.12) and in FDSG (M = 30.52). CONCLUSION: It was possible to use accelerometry to evaluate the movement acceleration characteristics of teenagers diagnosed with DS during virtual bowling and golf games played on the Nintendo Wii console.

PRENATAL DIAGNOSIS - DIAGNÓSTICO

TÍTULO / TITLE:    - Has non-invasive prenatal testing impacted termination of pregnancy and live birth rates of infants with Down syndrome?

REVISTA / JOURNAL:    - Prenat Diagn. 2017 Nov 7. doi: 10.1002/pd.5182.

Enlace a la Editora de la Revista http://dx.doi.org/10.1002/pd.5182

AUTORES / AUTHORS: - Hill M et al.

INSTITUCIÓN / INSTITUTION: - Department of Obstetrics and Gynaecology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore.  

RESUMEN / SUMMARY: - BACKGROUND: Implementation of non-invasive prenatal testing (NIPT) as a highly accurate aneuploidy screening test has raised questions around whether the high uptake may result in more terminations of pregnancies and fewer births of children with Down Syndrome (DS). AIM: Investigate the impact of NIPT on termination and live birth rates for DS. METHODS: Literature reporting pregnancy outcomes following NIPT was reviewed. Termination rates were calculated for women with a high-risk NIPT result for DS. Two audits of pregnancy outcomes where NIPT indicated DS were conducted in England and Singapore. RESULTS: Fourteen studies, from the USA, Asia, Europe and the UK, were included in the review. Live births of children with DS were reported in eight studies. Termination rates following NIPT were unchanged or decreased when compared to termination rates prior to the introduction of NIPT. Audits found 15 of 43 women in the UK and two of six in Singapore continued pregnancies following a high-risk NIPT result. CONCLUSIONS: Termination rates following the detection of DS by NIPT are unchanged or decreased compared to historical termination rates. Impact on live birth rates may be minimal in settings where termination rates fall. Population-based studies are required to determine the true impact.

TÍTULO / TITLE:    - Prenatal reflex DNA screening for trisomies 21, 18, and 13.

REVISTA / JOURNAL:    - enet Med. 2017 Nov 9. pii: gim2017188. doi: 10.1038/gim.2017.188.

Enlace a la Editora de la Revista http://dx.doi.org/10.1038/gim.2017.188

AUTORES / AUTHORS: -

INSTITUCIÓN / INSTITUTION: - Wolfson Institute of Preventive Medicine, Queen Mary University of London, London, UK.  

RESUMEN / SUMMARY: - PurposeThe purpose of the study was to determine the screening performance of prenatal reflex DNA screening for trisomies 21 (T21), 18 (T18), and 13 (T13) as part of a routine service at five hospitals.MethodsWomen who accepted screening had a first-trimester combined test (pregnancy-associated plasma protein A, free beta-human chorionic gonadotropin, nuchal translucency interpreted with maternal age). Those with a risk of having an affected pregnancy >/=1 in 800 were reflexed to a DNA sequencing test using stored plasma from the original blood sample, thereby avoiding the need to recall them.ResultsOf 22,812 women screened (including 106 with affected pregnancies), 2,480 (10.9%) were reflexed to DNA testing; 101/106 were detected (69/73 T21, 24/25 T18, and 8/8 T13), a 95% detection rate (95% confidence interval 89-98%) with four false positives (0.02%, 95% confidence interval 0.00-0.05%). The odds of being affected given a positive result were 25:1. Of the 105 screen-positive pregnancies, 91 (87%) had an invasive diagnostic test. Reflex DNA screening avoided up to 530 invasive diagnostic tests compared with using the combined test.ConclusionReflex DNA screening was successfully implemented in routine care, achieving a high detection rate, low false-positive rate, and, consequently, greater safety with fewer invasive diagnostic tests than other methods of screening. GENETICS in MEDICINE advance online publication, 9 November 2017; doi:10.1038/gim.2017.188.

TÍTULO / TITLE:    - A new approach of digital PCR system for non-invasive prenatal screening of trisomy 21.

REVISTA / JOURNAL:    - Clin Chim Acta. 2017 Nov 21;476:75-80. doi: 10.1016/j.cca.2017.11.015.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.cca.2017.11.015

AUTORES / AUTHORS: - Lee SY; ... Hwang SY;

INSTITUCIÓN / INSTITUTION: - BioCore Co. Ltd., Division of Biotechnology, Guro-gu, Seoul, Republic of Korea; Department of Bio-Nanotechnology, Hanyang University, Sangnok-gu, Ansan, Gyeonggi-do, Republic of Korea; Department of Molecular and Life Science, Hanyang Unive   syhwang@bio-core.com

RESUMEN / SUMMARY: - Non-invasive prenatal screening (NIPS) of trisomy 21 (T21) using digital PCR (dPCR) with several advantages will be very effective. Here, we developed a dPCR system for T21 screening which allows high sensitivity and real-time diagnosis and thus overcome sequence based analysis. METHODS: Cut-off value was established using DNA extracted from all 157 T21 negative samples including 47 pregnant woman samples and 3 T21 positive pregnant woman samples extracted from 4 different sample types. To increase the portion of the cell-free fetal DNA (cffDNA) in maternal cell-free DNA (cfDNA), a size selection method was devised. We evaluated the clinical reliability of NIPS using dPCR through analysis of 877 pregnant woman samples. RESULTS: We could demonstrate the possibility of NIPS using dPCR performed by applying cut-off value and size selection method. The overall accuracy was derived at 99.66% using 877 pregnant woman plasma samples. CONCLUSION: Our results showed that dPCR can meet the requirements for NIPS for T21. It is relatively inexpensive, easy to use in a screening method and compatible with ethical concerns regarding access to nucleotide sequence information. This study may be a basic data for the development of population-wide screening for T21 in pregnant women.

TÍTULO / TITLE:    - Economic analysis of prenatal screening strategies for Down syndrome in singleton pregnancies in Turkey.

REVISTA / JOURNAL:    - Eur J Obstet Gynecol Reprod Biol. 2017 Dec;219:40-44. doi: 10.1016/j.ejogrb.2017.09.025. Epub 2017 O

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.ejogrb.2017.09.025

AUTORES / AUTHORS: - Okem ZG; et al

INSTITUCIÓN / INSTITUTION: - TOBB University of Economics and Technology, Department of International Entrepreneurship, Turkey   guldemokem@gmail.com

RESUMEN / SUMMARY: - To examine the costs and outcomes of different screening strategies for Down Syndrome (DS) in singleton pregnancies. STUDY DESIGN: A decision-analytic model was developed to compare the costs and the outcomes of different prenatal screening strategies. Five strategies were compared for women under 35-year of age: 1A) triple test (TT), 2A); combined test (CT), 3A) Non-invasive Prenatal Screening Test by using cell free fetal DNA (NIPT), 4A) and 5A) NIPT as a second-step screening for high-risk patients detected by either TT, or CT respectively. For women> /=35-year of age, 1B) implementing invasive test (amniocentesis -AC) and 2B) NIPT for all women were compared. Data was analyzed to obtain the outcomes, total costs, the cost per women and the incremental cost-effectiveness ratios (ICERs) for screening strategies. RESULTS: Among the current strategies for women under 35 years old, CT is clearly dominated to TT, as it is more effective and less costly. Although, the current routine practice (2A) is the least-costly strategy, implementing NIPT as a second step screening to high-risk women identified by CT (5A) would be more effective than 2A; leading to a 10.2% increase in the number of detected DS cases and a 96.3% reduction in procedural related losses (PRL). However, its cost to the Social Security Institution that is a public entity would be 17 times higher and increase screening costs by 1.5 times. Strategy 5A would result in an incremental cost effectiveness of 6,873,082 (PPP) US$ when compared to the current one (2A). Strategy 1B-for offering AC to all women >/=35-year of age is dominated over NIPT (2B), as it would detect more DS cases and would be less costly. On the other hand, there would be 206 PRL associated with AC, but NIPT provides clear clinical benefits as there would be no PRL with NIPT. CONCLUSIONS: NIPT leads to very high costs despite its high effectiveness in terms of detecting DS cases and avoiding PRL. The cost of NIPT should be decreased, oth

TÍTULO / TITLE:    - Women’s Preference For Non-Invasive Prenatal DNA Testing (NIPT) Versus Chromosomal Microarray After Screening For Down Syndrome: A Prospective Study.

REVISTA / JOURNAL:    - BJOG. 2017 Nov 10. doi: 10.1111/1471-0528.15022.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/1471-0528.15022

AUTORES / AUTHORS: - Cheng YKY; et al.

INSTITUCIÓN / INSTITUTION: - Dept Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong, China.  

RESUMEN / SUMMARY: - To examine preference for follow-up test in women screened high or intermediate risk in 1(st) or 2(nd) trimester Down syndrome screening. DESIGN: Prospective cohort study. SETTING: Three public hospitals in Hong Kong, China. SAMPLE: Women with term high risk> /= 1:250 (HR) or intermediate risk 1:251-1:1200 (IR). METHODS: Women screened high risk were asked to decide among 1) an invasive test plus chromosomal microarray (CMA) to obtain more detailed fetal genetic information, 2) a non-invasive cell free prenatal DNA screening (NIPT) to detect trisomies 13, 18 and 21 to avoid procedure related miscarriage, and 3) decline further testing. Women received standardized counselling, reporting times were identical, procedure miscarriage risk was 0.1-0.2% and that there was no charge. Women with risk between 1:251 -1:1200 (IR) were offered NIPT as a secondary screening test. MAIN OUTCOME MEASURE: NIPT uptake rate. RESULTS: Three hundred and forty-seven women were HR, 344(99.1%) opted for follow-up testing of which 216 (62.2%) chose NIPT. Five hundred and seven (82.6%) of 614 women with IR risk chose NIPT. Seven (21%) of 34 women with nuchal translucency> /=3.5mm opted for NIPT. CONCLUSIONS: In a setting where reporting times are similar and there is no cost difference between options, approximately 60% of HR women would opt for NIPT offering simple but limited aneuploidy assessment over a diagnostic procedure with comprehensive and more detailed assessment. This article is protected by copyright. All rights reserved.

TÍTULO / TITLE:    - Women’s Understanding and Attitudes towards Down Syndrome and Other Genetic Conditions in the Context of Prenatal Screening.

REVISTA / JOURNAL:    - J Genet Couns. 2017 Oct 24. pii: 10.1007/s10897-017-0167-7. doi: 10.1007/s10897-017-0167-7.

Enlace a la Editora de la Revista http://dx.doi.org/10.1007/s10897-017-0167-7

AUTORES / AUTHORS: - Long S et al.

INSTITUCIÓN / INSTITUTION: - Faculty of Health Sciences, Curtin University, Perth, WA, Australia.;   School of Women’s and Infants’ Health, The University of Western Australia, Perth, WA, Australia.

RESUMEN / SUMMARY: - In order to explore the impact of potential new technologies in the area of prenatal screening, we conducted a baseline study using qualitative interviews to explore women’s attitudes and knowledge regarding current and future prenatal screening technology and methods. Three cohorts were interviewed, including healthy women without children, healthy women with healthy children, and healthy women with children who have de novo genetic disorders. This study aimed to assess the baseline understanding and attitudes of women in Western Australia. Women from each cohort demonstrated adequate knowledge of the differences between screening and diagnostic tests, but were mostly unaware of the conditions for which screening is currently available except Down syndrome. Women who had children with de novo genetic conditions were generally aware of more genetic conditions than women with or without healthy children. Most women recognised the genetic basis for the conditions mentioned. Two thirds of women understood that Down syndrome is a chromosomal condition; just one third recognised that the phenotype is variable. Most women expressed a positive attitude towards Down syndrome. Social acceptance of children with Down syndrome was commonly mentioned as a concern. While the majority of women with children supported screening for Down syndrome, they emphasised that it must be an autonomous choice. General knowledge of genetic conditions illustrated that women are exposed to diverse conditions from lived experience as well as the media.

TÍTULO / TITLE:    - Screening for trisomy 21 based on maternal age, nuchal translucency measurement, first trimester biochemistry and quantitative and qualitative assessment of the flow in the DV - the assessment of effi

REVISTA / JOURNAL:    - Ginekol Pol. 2017;88(9):481-485. doi: 10.5603/GP.a2017.0088.

Enlace a la Editora de la Revista http://dx.doi.org/10.5603/GP.a2017.0088

AUTORES / AUTHORS: - Czuba B... et al. Wegrzyn P;

INSTITUCIÓN / INSTITUTION: - Department of Obstetrics and Perinatology, Medical University of Warsaw, Zwirki i Wigury Str 63ª, 02-091, Warsaw, Poland.   piotr.wegrzyn@wum.edu.pl

RESUMEN / SUMMARY: - OBJECTIVES: The aim of the study was to compare effects of addition of two methods of ductus venosus (DV) flow assessment: qualitative - the assessment of shape of the A-wave (positive or negative), and quantitative - based on the pulsatility index for veins (DVPI) to the basic screening for trisomy 21 at 11 to 13 + 6 weeks of pregnancy. MATERIAL AND METHODS: The ultrasound examination was performed in 8230 fetuses in singleton pregnancies at 11- -13 + 6 wks, as a part of a routine screening for chromosomal defects. In DV A-wave was assessed and DVPI was calculated. After the scan blood sample was taken for first trimester biochemistry (BC). Risk for chromosomal defects was calculated and high-risk patients were offered an invasive test for karyotyping. RESULTS: Basic screening with following combination of markers: MA, NT and BC provided lowest detection rate (DR) 87.50% for FPR = 6.94%. After adding qualitative DV A-wave assessment DR increased to 88.75% for FPR = 5.65%. The best DR = 93.75% for FPR = 5.55% was achieved when quantitative DVPI was added. The application of the Receiver Operating Curves curve confirmed validity of the addition of DV flow assessment to the screening model. The highest diagnostic power of the test was achieved when DVPI was added, with the ROC AUC of 0.974. CONCLUSIONS: The assessment of DV flow performed at 11-13 + 6 weeks increases DR for trisomy 21 and reduces FPR. The screening model based on the quantitative DV flow analysis (DVPI) gives better results compared to the qualitative flow assessment.

TÍTULO / TITLE:    - Implementing non-invasive prenatal testing into publicly funded antenatal screening services for Down syndrome and other conditions in Aotearoa New Zealand.

REVISTA / JOURNAL:    - BMC Pregnancy Childbirth. 2017 Oct 4;17(1):344. doi: 10.1186/s12884-017-1535-x.

Enlace a la Editora de la Revista http://dx.doi.org/10.1186/s12884-017-1535-x

AUTORES / AUTHORS: - Filoche S et al

INSTITUCIÓN / INSTITUTION: - Department of Obstetrics and Gynaecology, Faculty of Medicine and Health Sciences, The University of Auckland, Auckland, New Zealand.  

RESUMEN / SUMMARY: - Non-invasive prenatal testing (NIPT) is a relatively new screen for congenital conditions - specifically, common fetal aneuploidies including Down Syndrome. The test is based on isolating freely circulating fragments of fetal-placental DNA that is present in the mother’s blood. NIPT has a superior clinical performance compared to current screening, and has been available privately in Aotearoa New Zealand for the last 4 years. MAIN ISSUE: The proposed implementation of NIPT as a publicly funded service may widen the inequity in access to optional antenatal screening that already exists in this country. CONCLUSION: This paper discusses precautions that can be taken at the health system, organisation, and personnel levels to ensure that access to NIPT is equitable, that services are culturally responsive, and women’s informed choice is promoted and protected. The adoption of NIPT into publicly funded services is an example of how genetic screening is becoming mainstreamed into health services; as such our approach may also have relevance around the introduction of other genetic and genomic screening initiatives.

PSYCHIATRY - PSIQUIATRÍA

TÍTULO / TITLE:    - Verbal short-term memory shows a specific association with receptive but not productive vocabulary measures in Down syndrome.

REVISTA / JOURNAL:    - J Intellect Disabil Res. 2017 Nov 20. doi: 10.1111/jir.12443.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/jir.12443

AUTORES / AUTHORS: - Majerus S; Barisnikov K

INSTITUCIÓN / INSTITUTION: - Psychology & Neuroscience of Cognition Research Unit, Universite de Liege, Liege, Belgium  

RESUMEN / SUMMARY: - Verbal short-term memory (STM) capacity has been considered to support vocabulary learning in typical children and adults, but evidence for this link is inconsistent for studies in individuals with Down syndrome (DS). The aim of this study was explore the role of processing demands on the association between verbal STM and vocabulary measures in DS, by comparing receptive vocabulary measures with high STM processing demands to productive vocabulary measures with low STM processing demands. METHOD: Forty-seven adults with Down syndrome were administered receptive vocabulary and productive vocabulary tasks, as well as measures of verbal STM abilities and intellectual efficiency. RESULTS: Bayesian regression analyses showed that verbal STM abilities were strongly and specifically associated with receptive vocabulary measures but not productive lexical abilities after controlling for intellectual efficiency, and this is despite the fact that vocabulary abilities as measured by receptive and productive vocabulary tasks were closely associated. CONCLUSIONS: In Down syndrome, verbal STM abilities may be predictive of specific task demands associated with receptive vocabulary tasks rather than of vocabulary development per se.

QUALITY OF LIFE - CALIDAD DE VIDA

TÍTULO / TITLE:    - Co-occurring medical conditions in adults with Down syndrome: A systematic review toward the development of health care guidelines.

REVISTA / JOURNAL:    - Am J Med Genet A. 2017 Nov 12. doi: 10.1002/ajmg.a.38512.

Enlace a la Editora de la Revista http://dx.doi.org/10.1002/ajmg.a.38512

AUTORES / AUTHORS: - Capone GT et al.

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - Adults with Down syndrome (DS) represent a unique population who are in need of clinical guidelines to address their medical care. The United States Preventive Service Task Force (USPSTF) has developed criteria for prioritizing conditions of public health importance with the potential for providing screening recommendations to improve clinical care. The quality of existing evidence needed to inform clinical guidelines has not been previously reviewed. Using the National Library of Medicine (NLM) database PubMed, we first identified 18 peer reviewed articles that addressed co-occurring medical conditions in adults with DS. Those conditions discussed in over half of the articles were prioritized for further review. Second, we performed detailed literature searches on these specific conditions. To inform the search strategy and review process a series of key questions were formulated a priori. The quality of available evidence was then graded and knowledge gaps were identified. The number of participating adults and the design of clinical studies varied by condition and were often inadequate for answering all of our key questions. We provide data on thyroid disease, cervical spine disease, hearing impairment, overweight-obesity, sleep apnea, congenital heart disease, and osteopenia-osteoporosis. Minimal evidence demonstrates massive gaps in our clinical knowledge that compromises clinical decision-making and management of these medically complex individuals. The development of evidence-based clinical guidance will require an expanded clinical knowledge-base in order to move forward.

TÍTULO / TITLE:    - Infants Born with Down Syndrome: Burden of Disease in the Early Neonatal Period.

REVISTA / JOURNAL:    - J Pediatr. 2017 Nov 23. pii: S0022-3476(17)31300-8. doi: 10.1016/j.jpeds.2017.09.046.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.jpeds.2017.09.046

AUTORES / AUTHORS: - Martin T; ...El-Khuffash A;

INSTITUCIÓN / INSTITUTION: - Department of Neonatology, The Rotunda Hospital, Dublin, Ireland; School of Medicine (Department of Pediatrics), Royal College of Surgeons in Ireland, Dublin, Ireland.   afifelkhuffash@rcsi.ie

RESUMEN / SUMMARY: - To evaluate the incidence of direct admission of infants with Down syndrome to the postnatal ward (well newborn nursery) vs the neonatal intensive care unit (NICU), and to describe the incidence of congenital heart disease (CHD) and pulmonary hypertension (PH). STUDY DESIGN: This retrospective cohort study of Down syndrome used the maternal/infant database (2011-2016) at the Rotunda Hospital in Dublin, Ireland. Admission location, early neonatal morbidities, outcomes, and duration of stay were evaluated and regression analyses were conducted to identify risk factors associated with morbidity and mortality. RESULTS: Of the 121 infants with Down syndrome, 54 (45%) were initially admitted to the postnatal ward, but 38 (70%) were later admitted to the NICU. Low oxygen saturation profile was the most common cause for the initial and subsequent admission to the NICU. Sixty-six percent of the infants (80/121) had CHD, 34% (41/121) had PH, and 6% died. Risk factors independently associated with primary NICU admission included antenatal diagnosis of Down syndrome, presence of CHD, PH, and the need for ventilation. CONCLUSIONS: Infants with Down syndrome initially admitted to the postnatal ward have a high likelihood of requiring NICU admission. Overall, high rates of neonatal morbidity were noted, including rates of PH that were higher than previously reported. Proper screening of all infants with Down syndrome for CHD and PH is recommended to facilitate timely diagnoses and potentially shorten the duration of the hospital stay.

TÍTULO / TITLE:    - Developmental trend of children with Down’s syndrome - How do sex and neonatal conditions influence their developmental patterns?

REVISTA / JOURNAL:    - Brain Dev. 2017 Oct 17. pii: S0387-7604(17)30266-8. doi: 10.1016/j.braindev.2017.10.001.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.braindev.2017.10.001

AUTORES / AUTHORS: - Aoki S; ... Hashimoto K;

INSTITUCIÓN / INSTITUTION: - Division of Rehabilitation Medicine and Developmental Evaluation Center, National Center for Child Health and Development, Japan   hashimoto-k@ncchd.go.jp

RESUMEN / SUMMARY: - This study investigated factors that would influence developmental trend of children with Down’s syndrome (DS) in three different domains (motor, cognitive, language), specifically focusing on the effect of sex and neonatal conditions, including preterm birth, low birth weight, and congenital heart disease (CHD). METHODS: The participants were 158 children with DS (mean age at the initial test=25.5months) receiving clinical service at a rehabilitation center in Yokohama, Japan. Kyoto Scale of Psychological Development was used to measure developmental level, which derive total developmental age (DA), Posture-motor DA, Cognitive-adaptive DA, and Language-social DA. For the analyses, a multilevel model for change was adopted, as the model allowed us to investigate intrapersonal growth and the between-personal factors that are associated with individual differences in the pattern of growth. RESULTS: The developmental speed of children with DS was found to be slower than that of typical children in all the three developmental domains assessed (i.e., the estimated coefficient of the slope for chronological age on DA was less than 1). DS Girls developed significantly faster than boys in non-verbal cognitive and language abilities. Low birth weight and CHD had a significant negative impact on development of non-verbal cognitive abilities for boys, but had a somewhat positive effect for girls. CONCLUSION: As was shown in previous studies, the result of this study indicated that the children with DS develop slower than non-disabled children. Low birth weight and CHD were found to influence developmental trend of children with DS, differently for boys and girls.

TÍTULO / TITLE:    - Parenting children with Down syndrome: Societal influences.

REVISTA / JOURNAL:    - J Child Health Care. 2017 Dec;21(4):488-497. doi: 10.1177/1367493517727131. Epub 2017 Aug 28.

Enlace a la Editora de la Revista http://dx.doi.org/10.1177/1367493517727131

AUTORES / AUTHORS: - Huiracocha L; et al.

INSTITUCIÓN / INSTITUTION: - 1 Department of Pediatrics, Faculty of Medical Sciences, University of Cuenca, Cuenca, Azuay, Ecuador.  

RESUMEN / SUMMARY: - Most studies of parenting children with Down syndrome (DS) have been conducted in industrialized countries. They suggest that sensitive communication on the part of professionals, and social support, can lead to acceptance and positive adjustments in the family. This study examined the impact of a diagnosis of DS on Ecuadorian families, in particular at how the diagnosis had been communicated and received, as well as the feelings and experiences which followed. Despite considerable progress in recent years, Ecuador is still marked by discriminatory attitudes which affect children with disabilities and their families, and by the persistence of widespread poverty. This qualitative study, conducted in Cuenca, Ecuador’s third largest city, is based on a focus group discussion and four in-depth interviews with Ecuadorian parents of DS children attending a specialist center in the city. The study shows that, reflecting the effects of status differences and lack of appropriate training, professionals rarely communicate a DS diagnosis in an appropriate manner. Further, it is shown that lack of social support, and the widespread stigmatization confronting children with DS and their families, hinder development of positive and empowering adjustments that would best serve the child’s and the family’s interest.

TÍTULO / TITLE:    - Yeah that Made a Big Difference!”: The Importance of the Relationship between Health Professionals and Fathers Who Have a Child with Down Syndrome.

REVISTA / JOURNAL:    - J Genet Couns. 2017 Nov 20. pii: 10.1007/s10897-017-0171-y. doi: 10.1007/s10897-017-0171-y.

Enlace a la Editora de la Revista http://dx.doi.org/10.1007/s10897-017-0171-y

AUTORES / AUTHORS: - Docherty F; Dimond R

INSTITUCIÓN / INSTITUTION: - School of Social Sciences, Cardiff University, Cardiff, UK.  

RESUMEN / SUMMARY: - Evidence suggests that medical services do not reflect the increased involvement of fathers in childcare, a discrepancy that can often lead to feelings of exclusion and inequality. Fathers who have a child with Down syndrome may encounter many different health professionals during their child’s life, therefore it is important to consider this relationship, and investigate the factors that influence their experiences. This is particularly important because the limited research focusing on fathers suggest that those who have a child with Down syndrome can experience increased stress levels and lasting feelings of loss and grief. It is therefore important to address their relationships with health professionals, as these may be a significant resource to prevent these feelings. This study used interpretative phenomenological analysis (IPA) to explore the experiences of seven fathers who have a child with Down syndrome, focusing on their interactions with health professionals. The analysis showed that the major factors associated with negative experiences were feelings of exclusion, receiving overly negative information about the condition and a perceived lack of on-going support. Positive experiences were associated with being made to feel like an equal parent, being given direct/clear information and being congratulated on the birth of their child. These results provide an insight into what fathers expect in terms of their own and their child’s care and highlight that health professionals have an important and extensive role in influencing fathers’ experiences of Down syndrome.

TÍTULO / TITLE:    - Self-reported stress among adolescent siblings of individuals with autism spectrum disorder and Down syndrome.

REVISTA / JOURNAL:    - Autism. 2017 Nov 1:1362361317722432. doi: 10.1177/1362361317722432.

Enlace a la Editora de la Revista http://dx.doi.org/10.1177/1362361317722432

AUTORES / AUTHORS: - Shivers CM; et al.

INSTITUCIÓN / INSTITUTION: - Virginia Tech, USA.  

RESUMEN / SUMMARY: - Despite the prevalence of studies showing increased stress among mothers of individuals with autism spectrum disorders, few studies have examined general stress among typically developing siblings. This study used an online survey to compare the levels of self-reported stress between adolescent siblings of individuals with autism spectrum disorder and Down syndrome. Sibling of individuals with autism reported significantly more overall stress than did siblings of individuals with Down syndrome, as well as more stress specifically attributed to the brother/sister with autism. The two groups did not differ on perceived social support from family and friends. In linear regression models, the disability group (autism vs Down syndrome) was significantly related to sibling stress above and beyond target child behavior problems, perceived social support, and demographic factors. These results help shed light on the daily experiences of adolescent siblings of individuals with autism and call for more research into potential interventions to address increased stress levels.

TÍTULO / TITLE:    - Bioethics: The need for its application in the care of Down syndrome children [Bioética: Necesidad de su aplicación en la atención a niños con síndrome de Down]

REVISTA / JOURNAL:    - (2017) Revista Cubana de Medicina General Integral, 32 (3), 9 p.

AUTORES / AUTHORS: - Pineda Pérez, E.J.

INSTITUCIÓN / INSTITUTION: - Policlínico Docente “Ana Betancourt”, Facultad Docente “Victoria de Girón”, Universidad de Ciencias Médicas “Victoria de Girón”La Habana, Cuba  

RESUMEN / SUMMARY: - Introduction: Bioethics essentially concerns the human being, in relation to the environmental factors but its scope is broader and more interdisciplinary medical ethics. It is necessary that all medical professionals or specialists from special education to know notions of bioethics for the management of children with Down Syndrome from an early age, since these notions play an important role in managing these children and the family. Objective: Highlight the need for the bioethics principles in the comprehensive care for children with Down syndrome and their families at all levels of health care, mostly in Primary Health Care. Conclusion: The treatment to children with Down syndrome should include a comprehensiveness in aspects of care including application of bioethical principles in order to achieve the greatest possible dignity.

TÍTULO / TITLE:    - Behaviour support training for parents of children with Down syndrome: Perceptions, feedback, and attitudes

REVISTA / JOURNAL:    - (2017) International Journal of Diverse Identities, 17 (3), pp. 17-29. DOI: 10.18848/2327-7866/CGP/v

AUTORES / AUTHORS: - Gaad, E., Thabet, R.A.

INSTITUCIÓN / INSTITUTION: - Faculty of Education, The British University in Dubai, Dubai, United Arab Emirates  

RESUMEN / SUMMARY: - While there is a lot of interest in the area of inclusion of children with challenging behaviour in mainstream schooling in the Gulf and Middle East, little has been published in relation to the support of parents of such children to cope with this behaviour. This research article reports on findings related to a funded project by Al Jalila Foundation known as the Ta`alouf (Harmony in Arabic) Training Programme. This program ran for just over four years, supporting batches of parents. It aimed at raising the professional standards of parents who are engaged in the management of the challenging behaviour of children with disabilities and improving the practice of those parents by encouraging them to support the development of their children with disabilities. A set of qualitative research methods were applied to measure the impact of the Ta`alouf Training Programme on parents of children with special needs and disabilities (SEND). The findings of this study show that the course has had a large impact on parents. The article ends with recommendations for future practice.

RESPIRATORY - RESPIRATORIO

TÍTULO / TITLE:    - Endotracheal Intubation in a Down Syndrome Adult Undergoing Cataract Surgery - a Multidisciplinary Approach.

REVISTA / JOURNAL:    - Maedica (Buchar). 2017 Jun;12(2):127-132.

AUTORES / AUTHORS: - Moldoveanu GG; et al

INSTITUCIÓN / INSTITUTION: - Department of Anesthesiology and Intensive Care, “Elias” Emergency University Hospital, “Carol Davila” University of Medicine and Pharmacy, Bucharest, Romania.  

RESUMEN / SUMMARY: - The present case report aims to describe and discuss the approach for the management of difficult endotracheal intubation in an adult with Down syndrome undergoing cataract surgery. A 26-year-old female with Down syndrome and a validated diagnosis of cataract requiring surgery was examined in order to assess the degree of difficulty of endotracheal intubation. Patients with Down syndrome have characteristic craniofacial abnormalities which require a thorough pre-operative assessment to anticipate and prepare for a difficult endotracheal intubation. Before the surgery, a series of clinical and paraclinical examinations were conducted. Although cataract surgery generally requires loco-regional anesthesia, in our case it was performed under general anesthesia. Indicators of potentially difficult intubation were macroglossia, prognathism, short neck, limited degree of head extension and obesity. The pre-operative examinations, which revealed a high degree of endotracheal intubation, allowed the anesthetist to achieve a better peri- and intra-operative management of the patient.

TÍTULO / TITLE:    - Hypoglossal Nerve Stimulation in Adolescents With Down Syndrome and Obstructive Sleep Apnea

REVISTA / JOURNAL:    - JAMA. Free access to the article (immediately).Bibliographic Citation JAMA: <> Otolaryngol Head Neck

Enlace a la Editora de la Revista http://jama.ama-assn.org/search.dtl

AUTORES / AUTHORS: - Diercks GR; et al.

INSTITUCIÓN / INSTITUTION: - Department of Otolaryngology, Massachusetts Eye and Ear Infirmary, Boston.Department of Otology and Laryngology, Harvard Medical School, Boston, Massachusetts.  

RESUMEN / SUMMARY: - Obstructive sleep apnea (OSA) affects up to 60% of children with Down syndrome (DS) and may persist in half of patients after adenotonsillectomy. Children with DS who have persistent OSA often do not tolerate treatment with positive pressure airway support devices or tracheotomy for their residual moderate to severe OSA. The hypoglossal nerve stimulator is an implantable device that delivers an electrical impulse to anterior branches of the hypoglossal nerve in response to respiratory variation, resulting in tongue base protrusion that alleviates upper airway obstruction in adults. Objective: To determine whether hypoglossal nerve stimulation is safe and effective in children with DS. Design, Setting, and Participants: Case series of the first 6 adolescents with DS to undergo hypoglossal nerve stimulator implantation. Participants were 6 children and adolescents (12-18 years) with DS and severe OSA (apnea hypopnea index [AHI] > 10 events/h) despite prior adenotonsillectomy. Intervention: Inspire hypoglossal nerve stimulator placement. Main Outcomes and Measures: Patients were monitored for adverse events. Adherence to therapy was measured by hours of use recorded by the device. Efficacy was evaluated by comparing AHI and OSA-18, a validated quality-of-life instrument, scores at baseline and follow-up. Results: In 6 patients (4 male, 2 female; aged 12-18 years), hypoglossal nerve stimulator therapy was well tolerated (mean use, 5.6-10.0 h/night) and effective, resulting in significant improvement in OSA. At 6- to 12-month follow-up, patients demonstrated a 56% to 85% reduction in AHI, with an overall AHI of less than 5 events/h in 4 children and less than 10 events/h in 2 children. Children also demonstrated a clinically significant improvement (mean [SD] overall change score, 1.5 [0.6]; range, 0.9-2.3) on the OSA-18, a validated quality-of-life instrument. Conclusions and Relevance: Hypoglossal nerve stimulation was well tolerated and effective in the study populati

TÍTULO / TITLE:    - The evaluation and management of respiratory disease in children with Down syndrome (DS)

REVISTA / JOURNAL:    - (2017) Paediatric Respiratory Reviews, Article in Press. DOI: 10.1016/j.prrv.2017.07.003

AUTORES / AUTHORS: - Alsubie, H.S., Rosen, D.

INSTITUCIÓN / INSTITUTION: - Specialized Medical Center, Department of Pediatric Respiratory Medicine, Sleep Disorders Center, Box 84350, Riyadh 11671, Saudi Arabia  

RESUMEN / SUMMARY: - Children w ith Down syndrome (DS) have wide range of respiratory problems. Although underlying abnormalities in the respiratory system are important causes of morbidity and mortality in children with DS, particularly in the young, abnormalities in other organ systems may also impact respiratory function. A comprehensive evaluation of the child with DS and respiratory disease may prevent short-term morbidity and mortality, and reduce the incidence of complications in the long term. This review provides an overview of the various causes of respiratory disease, and insight into some of the newer therapies available to treat obstructive sleep apnea, in this population.

SURGERY - CIRUGÍA

TÍTULO / TITLE:    - Endotracheal Intubation in a Down Syndrome Adult Undergoing Cataract Surgery - a Multidisciplinary Approach.

REVISTA / JOURNAL:    - Maedica (Buchar). 2017 Jun;12(2):127-132.

AUTORES / AUTHORS: - Moldoveanu GG; et al

INSTITUCIÓN / INSTITUTION: - Department of Anesthesiology and Intensive Care, “Elias” Emergency University Hospital, “Carol Davila” University of Medicine and Pharmacy, Bucharest, Romania.  

RESUMEN / SUMMARY: - The present case report aims to describe and discuss the approach for the management of difficult endotracheal intubation in an adult with Down syndrome undergoing cataract surgery. A 26-year-old female with Down syndrome and a validated diagnosis of cataract requiring surgery was examined in order to assess the degree of difficulty of endotracheal intubation. Patients with Down syndrome have characteristic craniofacial abnormalities which require a thorough pre-operative assessment to anticipate and prepare for a difficult endotracheal intubation. Before the surgery, a series of clinical and paraclinical examinations were conducted. Although cataract surgery generally requires loco-regional anesthesia, in our case it was performed under general anesthesia. Indicators of potentially difficult intubation were macroglossia, prognathism, short neck, limited degree of head extension and obesity. The pre-operative examinations, which revealed a high degree of endotracheal intubation, allowed the anesthetist to achieve a better peri- and intra-operative management of the patient.

THERAPEUTICS - TERAPÉUTICA

TÍTULO / TITLE:    - Fetal Therapy for Down Syndrome: Report of Three Cases and a Review of the Literature.

REVISTA / JOURNAL:    - Issues Law Med. 2017 Spring;32(1):31-41.

AUTORES / AUTHORS: - Baggot PJ; Baggot RM

INSTITUCIÓN / INSTITUTION: - Guadalupe Medical Center, 3020 Wilshire, No. 219, Los Angeles, CA 90010,   pjbaggot@hotmail.com

RESUMEN / SUMMARY: - BACKGROUND: Down syndrome (trisomy 21) is a well-known cause of mental retardation. It can be diagnosed in early pregnancy. Scientists have made great strides in outlining the pathophysiologic mechanisms of mental retardation in Down syndrome. Much less has been published on human therapy. To our knowledge, these are the first published cases of fetal therapy for Down syndrome. METHODOLOGY: Reports of three cases. In all cases, treatment was both biochemical (e.g. nutritional) and educational. In all cases, treatment was both before and after birth. RESULTS: All children lacked the characteristic faces usually seen in the children with Down syndrome. This suggests a treatment effect before birth. All children had better than expected development. DISCUSSION: Enhancement of development is proposed as a new therapeutic principle. Developing neurons exchange neurotrophic factors during development when they give or receive stimulation from other neurons. Neurons which receive neurotrophic stimulation survive, and those, which do not, are lost to apoptosis. The developmental therapeutic principle seeks to optimize brain development. Biochemical inputs (neurotransmitters, drugs, hormones, nutrients) and functional stimulation are integrated to optimize the growth and survival of neurons individually; other cells; subcellular organelles; and the brain as a whole. Treatment may be before and after birth, both biochemical and functional. These principles may be applied to Down syndrome, other conditions, and normal fetuses or children. PREVIOUSLY PUBLISHED: Baggot PJ and Baggot RM (2014). Fetal Therapy for Down Syndrome: Report of three cases and review of the literature. J Am Phys Surg 19(1):20-24.

TÍTULO / TITLE:    - Doubling the rate of neurologic development in Down syndrome: a pilot study.

REVISTA / JOURNAL:    - Issues Law Med. 2016 Fall;31(2):125-137.

AUTORES / AUTHORS: - Baggot PJ;

INSTITUCIÓN / INSTITUTION: - Obstetrician/Gynecologist in Private Practice, Los Angeles CA.   pjbaggot@hotmail.com

RESUMEN / SUMMARY: - Recently, Von Tetzchner and colleagues completed the first study in three decades of the method of Institutes for the Achievement of Human Potential (IAHP.) They found no benefit. Because Von Tetzchner’s study had few patients (17-18), many diagnoses, and numerous (13) different outcome measures, these flaws may have obscured a treatment benefit with excessive variance. This study was designed to correct those flaws. One diagnosis (Down syndrome), a larger study (218), and a single outcome measure were used before and after (the IAHP developmental profile). Each child was compared to himself, before and after treatment. The goal was to minimize variance. METHODS: Study patients were encouraged to crawl early and engage in movement and balance exercises. Patterning was used to help children learn to crawl. The children were taught to read and count from a very young age. Nutrition and physiology was also addressed. RESULTS: Before IAHP treatment, children had neurologic age/chronologic age=0.55. This is consistent with standard median Down syndrome IQs of about 40. After treatment, from initial exam to first follow-up, children had delta NA/CA = 1.43. The rate of neurologic progress more than doubled. The p value was p < 10-15. DISCUSSION: The animal literature on environmental studies provides strong foundation for IAHP methods. Human adoption literature demonstrates substantial catch-up recovery is possible in humans. While surprising, these results are consistent with scientific literature. CONCLUSION: Conventional methods, according to von Tetzchner, have no proven benefit. The evidence presented here demonstrates a strong, clinically significant benefit, which is highly statistically significant. The IAHP method enhances development and cognitive performance, and is highly cost effective since 1) it works and 2) most of therapy is done by parents. 

URINARY/RENAL - URINARIO/RENAL

TÍTULO / TITLE:    - Smoking and its association with cryptorchidism in Down syndrome.

REVISTA / JOURNAL:    - Rev Assoc Med Bras (1992). 2017 Aug;63(8):693-696. doi: 10.1590/1806-9282.63.08.693.

Enlace a la Editora de la Revista http://dx.doi.org/10.1590/1806-9282.63.08.693

AUTORES / AUTHORS: - Duarte AMBR; et al.

INSTITUCIÓN / INSTITUTION: - Universidade Federal de Juiz de Fora, Juiz de Fora, MG, Brazil.  

RESUMEN / SUMMARY: - Cryptorchidism is a common and prevalent condition in patients with Down syndrome. Environmental factors, such as smoking, can be associated with malformations during fetal development. The study of the prevalence of cryptorchidism and its association with parental tobacco use in Down syndrome can contribute to alert health care professionals, patients and family members regarding the prevention of the harms caused by cryptorchidism and its possible predisposing factors. OBJECTIVE: To evaluate the prevalence of cryptorchidism in Down syndrome and its association with maternal and paternal smoking. METHOD: Forty (40) patients of a public clinic specialized in Down syndrome were evaluated, using a semi-structured questionnaire for evaluation of antecedents and sociodemographic characteristics, as well as physical and complementary examinations. RESULTS: Cryptorchidism was observed in 27.5% of the patients (95CI 15.98-42.96). Of these, 55% (5/9) were the children of mothers who smoked during pregnancy, and 19.35% (6/31) were the children of mothers who did not smoke during pregnancy (OR = 5.26 [95CI 1.06-25.41]; p=0.032). Similarly, paternal smoking was also observed in greater frequency among the parents of cryptorchid patients compared with subjects with descended testis, 63.36% (7/11) and 31.03% (9/29), respectively (OR = 3.89 [95CI 0.91-16.73]; p=0.060). CONCLUSION: The prevalence of cryptorchidism is high in patients with Down syndrome. We can show a strong association between smoking parents and the occurrence of cryptorchidism, especially when it comes to maternal smoking.

EDUCATION - EDUCACIÓN

TÍTULO / TITLE:    - Performance and Ratings Based Measures of Executive Function in School-Aged Children with Down Syndrome.

REVISTA / JOURNAL:    - Dev Neuropsychol. 2017;42(6):351-368. doi: 10.1080/87565641.2017.1360303.

Enlace a la Editora de la Revista http://dx.doi.org/10.1080/87565641.2017.1360303

AUTORES / AUTHORS: - Daunhauer LA; et al

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

RESUMEN / SUMMARY: - We examined performance-based laboratory tasks and ratings-based assessments of executive function (EF) in school-aged children with Down syndrome and mental-age matched peers along with adaptive functioning. METHODS: A battery of assessments including EF laboratory tasks was collected. RESULTS: The DS group performed both working memory/inhibition and planning laboratory tasks with significant challenges. Moderate correlations were evident only between some laboratory tasks and ratings-based EF domains. However, ratings-based EF better predicted adaptive function than performance on an EF laboratory-based task. CONCLUSIONS: Findings underscore the need to address early and targeted EF intervention in children with DS.

TÍTULO / TITLE:    - Parental education accounts for variability in the IQs of probands with Down syndrome: A longitudinal study.

REVISTA / JOURNAL:    - Am J Med Genet A. 2017 Nov 21. doi: 10.1002/ajmg.a.38519.

Enlace a la Editora de la Revista http://dx.doi.org/10.1002/ajmg.a.38519

AUTORES / AUTHORS: - Evans D; Uljarevic M

INSTITUCIÓN / INSTITUTION: - Olga Tennison Autism Research Centre, School of Psychology and Public Health, La Trobe University, Bundoora, Victoria, Australia.  

RESUMEN / SUMMARY: - Recent work has demonstrated that variability in probands’ phenotypes, including physical features, cognitive abilities, social functioning, and other developmental domains, is influenced by parental traits. Here we examine the role of parental education as a factor contributing to the variability of intelligence quotient (IQ) of offspring with trisomy 21. Participants were 43 probands with trisomy 21, aged 4-21 years of age, and their parents. Data were collected on parental education, and a bi-parental mean education score (BMES) was calculated. Probands’ cognitive abilities were assessed by the Stanford-Binet 4th edition at baseline (T1), and again 24 months later (T2). Probands were placed into one of two age groups: 4-12 years and 13-21 years. Results indicated higher parent-proband correlations in Age Group 2 (mean r = .47) relative to Age Group 1 (mean r = .33) and increasing parent-proband correlations across time, with mean correlations of Age Group 1, T1: r = .26, T2: 39; Age Group 2 T1: r = .49, T2: r = 46. Despite the expected IQ deficits observed in trisomy 21 probands, parental education may still contribute to the variability of probands’ cognitive abilities. These findings are consistent with the literature noting increasing heritability of IQ with development.

TÍTULO / TITLE:    - Speech disfluencies in children with Down Syndrome.

REVISTA / JOURNAL:    - J Commun Disord. 2017 Nov 8. pii: S0021-9924(16)30179-4. doi: 10.1016/j.jcomdis.2017.11.001.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.jcomdis.2017.11.001

AUTORES / AUTHORS: - Eggers K; Van Eerdenbrugh S

INSTITUCIÓN / INSTITUTION: - Dept. of Speech-Language Therapy and Audiology, Thomas More University College, Antwerp, Belgium; Dept. of Psychology and Speech-Language Pathology, University of Turku, Finland.   kurt.eggers@thomasmore.be

RESUMEN / SUMMARY: - Speech and language development in individuals with Down syndrome is often delayed and/or disordered and speech disfluencies appear to be more common. These disfluencies have been labeled over time as stuttering, cluttering or both. FINDINGS: were usually generated from studies with adults or a mixed age group, quite often using different methodologies, making it difficult to compare findings. Therefore, the purpose of this study was to analyze and describe the speech disfluencies of a group, only consisting of children with Down Syndrome between 3 and 13 years of age. METHOD: Participants consisted of 26 Dutch-speaking children with DS. Spontaneous speech samples were collected and 50 utterances were analyzed for each child. Types of disfluencies were identified and classified into stuttering-like (SLD) and other disfluencies (OD). The criterion of three or more SLD per 100 syllables (cf. Ambrose & Yairi, 1999) was used to identify stuttering. Additional parameters such as mean articulation rate (MAR), ratio of disfluencies, and telescoping (cf. Coppens-Hofman et al., 2013) were used to identify cluttering and to differentiate between stuttering and cluttering. RESULTS & CONCLUSION: Approximately 30 percent of children with DS between 3 and 13 years of age in this study stutter, which is much higher than the prevalence in normally developing children. Moreover, this study showed that the speech of children with DS has a different distribution of types of disfluencies than the speech of normally developing children. Although different cluttering-like characteristics were found in the speech of young children with DS, none of them could be identified as cluttering or cluttering-stuttering.

TÍTULO / TITLE:    - Mental rotation ability and everyday-life spatial activities in individuals with Down syndrome.

REVISTA / JOURNAL:    - Res Dev Disabil. 2017 Oct 25;72:33-41. doi: 10.1016/j.ridd.2017.10.019.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.ridd.2017.10.019

AUTORES / AUTHORS: - Meneghetti C; ... Lanfranchi S;

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

RESUMEN / SUMMARY: - Although certain visuospatial abilities, such as mental rotation, are crucially important in everyday activities, they have been little explored in individuals with Down syndrome (DS). This study investigates: i) mental rotation ability in individuals with DS; and ii) its relation to cognitive abilities and to everyday spatial activities. Forty-eight individuals with DS and 48 typically-developing (TD) children, matched on measures of vocabulary and fluid intelligence, were compared on their performance in a rotation task that involved detecting which of two figures would fit into a hole if rotated (five angles of rotation were considered: 0 degrees , 45 degrees , 90 degrees , 135 degrees , 180 degrees ). Participants were also assessed on their visuospatial and verbal cognitive abilities, and on their parents and/or educators reports regarding their everyday spatial activities. Results showed that: (i) individuals with DS were less accurate in mental rotation than TD children, with larger differences between the groups for smaller angles of rotation; individuals with DS could not mentally rotate through 180 degrees , while TD children could; (ii) mental rotation ability was related to fluid intelligence and to spatial activities (though other cognitive abilities are also involved in the latter) to a similar degree in the DS group and the matched TD children. These results are discussed with regard to the atypical development domain and spatial cognition models.

TÍTULO / TITLE:    - Environment learning from virtual exploration in individuals with down syndrome: the role of perspective and sketch maps.

REVISTA / JOURNAL:    - J Intellect Disabil Res. 2017 Nov 9. doi: 10.1111/jir.12445.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/jir.12445

AUTORES / AUTHORS: - Toffalini E... Lanfranchi S

INSTITUCIÓN / INSTITUTION: - Department of Developmental Psychology and Socialization, University of Padova, Padua, Italy.  

RESUMEN / SUMMARY: - Spatial knowledge about an environment is an important determinant of ability to move effectively within it and of personal autonomy. Individuals with Down’s syndrome (DS) have difficulty managing configural visuospatial information. METHOD: Twenty-nine individuals with DS and 29 typically developing (TD) children, matched for mental age, learned about environments through virtual exploration using a route or survey view. A sketch map of the environment was or was not presented before exploration. Then the acquisition of configural knowledge (landmark locations) and route retracing were tested. RESULTS: Individuals with DS were able to acquire configural knowledge through virtual exploration in all presentation conditions, and generally performed no worse than matched TD children. However, they were not able to benefit from the conditions that facilitated acquisition of configural knowledge in TD children, that is, seeing a sketch map before exploring and exploring in survey (rather than route) view. As regards route retracing, individuals with DS paused more often than controls and tended to travel longer paths, which made them slower overall. CONCLUSIONS: DS reduces children’s ability to benefit from additional survey information and may be related to difficulty in elaborating configural/simultaneous information.

TÍTULO / TITLE:    - Verbal short-term memory shows a specific association with receptive but not productive vocabulary measures in Down syndrome.

REVISTA / JOURNAL:    - J Intellect Disabil Res. 2017 Nov 20. doi: 10.1111/jir.12443.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/jir.12443

AUTORES / AUTHORS: - Majerus S; Barisnikov K

INSTITUCIÓN / INSTITUTION: - Psychology & Neuroscience of Cognition Research Unit, Universite de Liege, Liege, Belgium  

RESUMEN / SUMMARY: - BACKGROUND: Verbal short-term memory (STM) capacity has been considered to support vocabulary learning in typical children and adults, but evidence for this link is inconsistent for studies in individuals with Down syndrome (DS). The aim of this study was explore the role of processing demands on the association between verbal STM and vocabulary measures in DS, by comparing receptive vocabulary measures with high STM processing demands to productive vocabulary measures with low STM processing demands. METHOD: Forty-seven adults with Down syndrome were administered receptive vocabulary and productive vocabulary tasks, as well as measures of verbal STM abilities and intellectual efficiency. RESULTS: Bayesian regression analyses showed that verbal STM abilities were strongly and specifically associated with receptive vocabulary measures but not productive lexical abilities after controlling for intellectual efficiency, and this is despite the fact that vocabulary abilities as measured by receptive and productive vocabulary tasks were closely associated. CONCLUSIONS: In Down syndrome, verbal STM abilities may be predictive of specific task demands associated with receptive vocabulary tasks rather than of vocabulary development per se.

TÍTULO / TITLE:    - Inferential language use by youth with Down syndrome during narration.

REVISTA / JOURNAL:    - Res Dev Disabil. 2017 Dec;71:98-108. doi: 10.1016/j.ridd.2017.10.002. Epub 2017 Oct 13.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.ridd.2017.10.002

AUTORES / AUTHORS: - Ashby SA ... Abbeduto L

INSTITUCIÓN / INSTITUTION: - Department of Speech and Hearing Science, University of Illinois at Urbana-Champaign, 901 S. Sixth Street, Champaign, IL, 61820, USA   sashby2@illinois.edu

RESUMEN / SUMMARY: - We examined inferential language use by youth with Down syndrome (DS) in the context of narrative storytelling relative to younger typically developing (TD) children and same-aged peers with fragile X syndrome (FXS) matched on nonverbal cognitive ability level. Participants’ narratives were coded for the use of different types of inferential language. Participants with DS used proportionately less inferential language overall relative to their counterparts with TD or FXS, although mean length of utterance accounted for group differences observed for the DS-TD group comparison only. Patterns of inferential language use varied across inferential subtypes and across participant groups, with mean length of utterance playing a significant role in group differences. These findings suggest potential syndrome specificity to the DS phenotype regarding impairments in inferential language use that can be partially explained by level of expressive syntactic ability and should be considered in future research. Clinical interventions within the DS population, therefore, should target to some extent the use of inferential language and complex sentence structure.

TÍTULO / TITLE:    - Speech therapy in adolescents with Down syndrome: In pursuit of communication as a fundamental human right.

REVISTA / JOURNAL:    - Int J Speech Lang Pathol. 2017 Nov 10:1-9. doi: 10.1080/17549507.2018.1392605.

Enlace a la Editora de la Revista http://dx.doi.org/10.1080/17549507.2018.1392605

AUTORES / AUTHORS: - Rvachew S; Folden M

INSTITUCIÓN / INSTITUTION: - a School of Communication Sciences and Disorders , McGill University , Montreal , Canada and.  

RESUMEN / SUMMARY: - PURPOSE: The achievement of speech intelligibility by persons with Down syndrome facilitates their participation in society. Denial of speech therapy services by virtue of low cognitive skills is a violation of their fundamental human rights as proclaimed in the Universal Declaration of Human Rights in general and in Article 19 in particular. Here, we describe the differential response of an adolescent with Down syndrome to three speech therapy interventions and demonstrate the use of a single subject randomisation design to identify effective treatments for children with complex communication disorders. METHOD: Over six weeks, 18 speech therapy sessions were provided with treatment conditions randomly assigned to targets and sessions within weeks, specifically comparing auditory-motor integration prepractice and phonological planning prepractice to a control condition that included no prepractice. All treatments involved high intensity practice of nonsense word targets paired with tangible referents. RESULT: A measure of generalisation from taught words to untaught real words in phrases revealed superior learning in the auditory-motor integration condition. CONCLUSION: The intervention outcomes may serve to justify the provision of appropriate supports to persons with Down syndrome so that they may achieve their full potential to receive information and express themselves.

TÍTULO / TITLE:    - Predictors of receptive and expressive vocabulary development in children with Down syndrome.

REVISTA / JOURNAL:    - Int J Speech Lang Pathol. 2017 Oct 18:1-13. doi: 10.1080/17549507.2017.1363290.

Enlace a la Editora de la Revista http://dx.doi.org/10.1080/17549507.2017.1363290

AUTORES / AUTHORS: - Deckers SRJM; et al.

INSTITUCIÓN / INSTITUTION: - a Radboud University Nijmegen , Nijmegen , The Netherlands  

RESUMEN / SUMMARY: - PURPOSE: There is a lack of longitudinal data on predictors of vocabulary development in children with Down syndrome (DS). In typically developing children, many internal and external predictors of vocabulary development have been determined before. The purpose of the present study was to investigate the role of these variables in the receptive and expressive vocabulary development of children with DS. METHOD: The present study used a longitudinal design in young children with DS to study the vocabulary development over a period of 1.6 years and investigated the possible predictive role of child-related and environmental variables. RESULT: Receptive vocabulary development was best predicted by the adaptive level of functioning and early receptive vocabulary skills. Expressive vocabulary development was best predicted by the adaptive level of functioning, receptive vocabulary, maternal educational level, level of communicative intent of the child, attention skills and phonological/phonemic awareness. CONCLUSION: A wide range of internal and external predictors for vocabulary development of children with DS was found. Predictors resemble those predicting vocabulary development in peers with typical development between 1 and 6 years of age, as identified in other studies.

TÍTULO / TITLE:    - Implicit theories concerning the intelligence of individuals with Down syndrome.

REVISTA / JOURNAL:    - PLoS One. 2017 Nov 22;12(11):e0188513. doi: 10.1371/journal.pone.0188513. eCollection 2017.

Enlace a la Editora de la Revista http://dx.doi.org/10.1371/journal.pone.0188513

AUTORES / AUTHORS: - Enea-Drapeau C; Carlier M; Huguet P

INSTITUCIÓN / INSTITUTION: - PSYCLE, Aix Marseille Univ, Aix-en-Provence, France.   claire.enea-drapeau@univ-amu.fr

RESUMEN / SUMMARY: - Studies over the past three decades have shown that learning difficulties are not only determined by neurological disorders, but also by motivational and/or socio-cognitive factors Among these factors, implicit theories of intelligence (also referred to as conceptions, mindsets or beliefs about intelligence) are key elements. The belief that intelligence is fixed (entity theory), as opposed to malleable (incremental theory), is generally associated with negative teaching practices and poorer student outcomes, yet beliefs about the intelligence of individuals with intellectual disabilities have not received much attention. We propose the first study on conceptions of intelligence of persons with intellectual disabilities, here people with Down syndrome. Participants were 55 professionally qualified people working with individuals with intellectual disabilities and 81 adults from the community. We compared what both groups of participants believe about intelligence of typical people and what they believe about the intelligence of individuals with Down syndrome. We also investigated implicit theories of intelligence as predictors of explicit judgments about intelligence and implicit attitudes toward people with Down syndrome. Whatever the work experience in the field of intellectual disability, implicit theories of intelligence were found to be less incremental when considering people with Down syndrome than when considering typical people; and the stronger the belief in entity theory, the more negative (and less positive) the judgments expressed explicitly. Implicit theories of intelligence were also found to be predictors of negative implicit attitude but only in adults from the community. These findings offer prospects for improving practices by people working in the field of intellectual disability. They might interest a wide range of people caring for people with intellectual disabilities, such as teachers, but also other professional caregivers, and other scienti

TÍTULO / TITLE:    - Impairments in the Visual Processing of Global Biological Motion Cues in Down Syndrome

REVISTA / JOURNAL:    - (2017) Perception, 46 (11), pp. 1283-1297. DOI: 10.1177/0301006617718716

AUTORES / AUTHORS: - Riddell, H., et al

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - Down syndrome (DS) is one of the most common chromosomal disorders and is often associated with a number of motor and cognitive impairments. Little research has been dedicated to investigating the perceptual abilities of individuals with DS. The visual processing of biological motion has been shown to be impaired in DS. It has been proposed that these impairments may stem from an inability to process the global patterns of full-body motion produced by a moving actor; however, this has not been explicitly investigated. We tested groups of participants with and without DS on a task requiring the visual discrimination of point-light walkers from spatially scrambled versions of point-light walkers. Participants with DS demonstrated poorer performance and slower reaction times on the task than healthy controls. From these results, we conclude that biological motion processing is impaired in DS and that this deficit is related to an inability to integrate global configural cues. In a second experiment, individuals with DS were able to discriminate the direction in which laterally translating walkers moved, suggesting that the global motion processing deficit observed in Experiment 1 is specific to biological motion recognition and does not generalise to other types of global motion.

TÍTULO / TITLE:    - The impact of assistive technology on Down syndrome students in Kingdom of Bahrain

REVISTA / JOURNAL:    - (2017) Turkish Online Journal of Educational Technology, 16 (4), pp. 103-119.

AUTORES / AUTHORS: - Alammary, J et al

INSTITUCIÓN / INSTITUTION: - College of Information Technology, University of Bahrain, Bahrain  

RESUMEN / SUMMARY: - Assistive Technology is playing an enabler role in the life of Down Syndrome. Assistive Technology can allow Down Syndrome to engage in the normal life activities and be more social and independent. The Arab countries are providing vital effort on facilitating the life of Dawn Syndrome and encouraging their engagement in normal social life. However, there is a lack in utilizing Assistive Technology in supporting such segment of people in these countries. The main aim of the current research is to investigate the current situation regarding the adoption of AT in the teaching and learning processes of Down Syndrome students in inclusion schools and rehabilitation centers in Kingdom of Bahrain. In addition, the impacts of AT in enhancing the independence, performance and social interaction of Down Syndrome students were examined. To achieve these objectives, two different questionnaires were administered to a non-random sample of teachers or specialists and families of Down Syndrome at Kingdom of Bahrain. In general the results show that the adoption of AT in teaching and learning of Down Syndrome students can enable them to be more social and independent person. AT can enhance the Down Syndrome communication which in turn can improve their independence, social interaction, and performance. However, to perceived the greatest and sustainable advantage on using AT, there is still a need for enhancing the capabilities and skills of the teachers/specialists and families to be able to adopt the AT for getting the best results. The research outcomes address several recommendations to enhance the educational process for the Down Syndrome students and other disabled people in Kingdom of Bahrain. Moreover, the study has a vital contribution to the theoretical literature and knowledge by building new model for examining the impact of AT on the Down Syndrome which is rarely develop by previous literature. In addition, it has developed new measurements which can be adopted in

TÍTULO / TITLE:    - A study on the efficacy of the structuring of support on professional training for young people with intellectual disabilities [UN ESTUDIO SOBRE LA EFICACIA EN LA ESTRUCTURACIÓN DE LOS APOYOS EN FORMA

REVISTA / JOURNAL:    - (2016) Siglo Cero, 47 (2), pp. 99-114. DOI: 10.14201/scero201647299114

Enlace a la Editora de la Revista Conte, E.V., Delgado-Pastor, L.C.

AUTORES / AUTHORS: - Universidad de Zaragoza, Facultad de Ciencias Humanas y de la Educación de Huesca, C/Valentín Carderera, Huesca,. Asoc iación Down Huesca, Spain

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - In the context of an innovative teaching project approved by the Government of Aragon and the University of Zaragoza a study on professional training for young people with intellectual disabilities (ID) was developed. The objective was to investigate the support system and to check the effectiveness of a design based on sources of natural and professional support. 9 young people with DI took part together with diverse support staff -parents, volunteers, university students through a service learning experience, professionals, adults with ID-. The theoretical bases of the project were linked to independent life projects, the supported employment and the supports model. The methodological references were the mediational teaching approach and cooperative learning. As evaluation tools, the Adaptive Skills Inventory (CALS), the questionnaire of social interaction skills (CHIS) and the questionnaires of satisfaction were used. The results indicate a high achievement regarding the acquisition of skills by the participants, as well as a high degree of satisfaction from the experience. Despite several limitations present in our study, our results support the desirability of establishing new designs that enhance the effectiveness of the professional training of young people with DI and promote social and labor availability in inclusive environments.
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