Terapias complementarias y alternativas para el síndrome de Down

Los padres de hijos con síndrome de Down, en su papel de defensores comprometidos de sus hijos, han indagado siempre por terapias alternativas, sobre todo para mejorar su función cognitiva, pero también para mejorar su aspecto. Las terapias complementarias y alternativas más frecuentemente utilizadas han sido los suplementos de tipo nutritivo. Se ha usado la terapia celular, la cirugía plástica, la terapia hormonal y un conjunto de otras estrategias como puede ser el masaje. Carecemos de estudios científicos bien diseñados sobre el empleo de las terapias alternativas en las personas con síndrome de Down. Los productos antioxidantes ofrecen una perspectiva terapéutica para el tratamiento de los problemas de tipo cognitivo, inmunitario, neoplástico y de envejecimiento precoz, asociados al síndrome de Down que están en fase de estudio. Los medicamentos para el tratamiento de la enfermedad de Alzheimer pueden también beneficiar a la población con síndrome de Down

Velo-Cardio-Facial Syndrome

Purpose of review: Velo-cardio-facial syndrome has emerged from obscurity to become one of the most researched disorders this past decade. It is one of the most common genetic syndromes in humans, the most common contiguous gene syndrome in humans, the most common syndrome of cleft palate, and the most common syndrome of conotruncal heart malformations. Velo-cardio-facial syndrome has an expansive phenotype, a factor reflected in the wide range of studies that cover both clinical features and molecular genetics. In this review, we cover multiple areas of research during the past year, including psychiatric disorders, neuroimaging, and the delineation of clinical features. Recent findings: The identification of candidate genes for heart anomalies, mental illness, and other clinical phenotypes has been reported in the past year with a focus on TBX1 for cardiac and craniofacial phenotypes and COMT and PRODH for psychiatric disorders. The expansive phenotype of velo-cardio-facial syndrome continues to grow with new behavioral and structural anomalies reported. Treatment issues are beginning to draw attention, although most authors continue to focus on diagnostic issues. Summary: Its high population prevalence, estimated to be as common as 1:2000 has sparked a large amount of research, as has the model the syndrome serves for identifying the causes of mental illness and learning disabilities, but it is obvious that more information is needed. Intensive scrutiny of velo-cardio-facial syndrome will undoubtedly continue for many years to come with the hope that researchers will turn more of their attention to treatment and treatment outcomes

22q11.2 Deletion Syndrome: Are Motor Deficits More Than Expected for IQ Level?

To examine motor function in children with 22q11.2 deletion syndrome (22q11.2) and a Full Scale IQ (FSIQ) comparable control group. This study was part of a prospective study of neuropsychological function in children 9 to 15 years of age with 22q11.2 and community control subjects and included children from these two populations with comparable FSIQs. Verbal IQs on the WISC-R for 40 children with 22q11.2 (88.4) and 24 community control subjects (87.2) were not different (P=.563). However, the performance IQs were (22q11.2; 81.1 vs community controls; 89.3;

Opportunities, barriers, and recommendations in down syndrome research

Recent advances in medical care have increased life expectancy and improved the quality of life for people with Down syndrome (DS). These advances are the result of both pre-clinical and clinical research but much about DS is still poorly understood. In 2020, the NIH announced their plan to update their DS research plan and requested input from the scientific and advocacy community. The National Down Syndrome Society (NDSS) and the LuMind IDSC Foundation worked together with scientific and medical experts to develop recommendations for the NIH research plan. NDSS and LuMind IDSC assembled over 50 experts across multiple disciplines and organized them in eleven working groups focused on specific issues for people with DS. This review article summarizes the research gaps and recommendations that have the potential to improve the health and quality of life for people with DS within the next decade. This review highlights many of the scientific gaps that exist in DS research. Based on these gaps, a multidisciplinary group of DS experts has made recommendations to advance DS research. This paper may also aid policymakers and the DS community to build a comprehensive national DS research strategy

Terapias alternativas y complementarias para el síndrome de Down

Los padres de hijos con síndrome de Down, en su papel de defensores comprometidos de sus hijos, han indagado siempre por terapias alternativas, sobre todo para mejorar su función cognitiva, pero también para mejorar su aspecto. Las terapias complementarias y alternativas más frecuentemente utilizadas han sido los suplementos de tipo nutritivo. Se ha usado la terapia celular, la cirugía plástica, la terapia hormonal y un conjunto de otras estrategias como puede ser el masaje. Carecemos de estudios científicos bien diseñados sobre el empleo de las terapias alternativas en las personas con síndrome de Down. Los productos antioxidantes ofrecen una perspectiva terapéutica para el tratamiento de los problemas de tipo cognitivo, inmunitario, neoplásico y de envejecimiento precoz, asociados al síndrome de Down. Los medicamentos para el tratamiento de la enfermedad de Alzheimer pueden también beneficiar a la población con síndrome de Down

Asymptomatic Celiac Disease in Children with Trisomy 21 at 26 Months of Age or Less

We report three cases of asymptomatic celiac disease identified in children with Down syndrome after being screened at around twenty-four months of age.  These cases raise the question as to what age is screening for celiac disease indicated in a child with Down syndrome and no symptoms

Children with Disabilities

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