Modeling Bainbridge-Ropers Syndrome in Xenopus laevis Embryos

In this study, we utilize the frog, Xenopus laevis as a simpler and more accessible vertebrate neurodevelopmental model system to understand the embryological cause of Bainbridge-Ropers syndrome. We have found that ASXL3 protein knockdown during early embryo development highly perturbs neural cell fate specification, potentially resembling the Bainbridge-Ropers syndrome phenotype in humans. Thus, the frog embryo is a powerful tool for understanding the etiology of Bainbridge-Ropers syndrome in humans.
Source: Frontiers in Physiology - Category: Physiology Source Type: research

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BOSTON (AP) — At school, Rose Hayes, 8, works with a team of teachers and therapists trained to help with her genetic condition. They set goals for her reading, give her physical therapy to improve her balance and make sure she stays on track. But for the last two weeks, her only connection to school has been through a computer screen. Rose, home amid the coronavirus pandemic that has shuttered schools across the country, now watches lessons her teacher posts to YouTube. Her therapists check in via video chat. In between, she works through daily assignments. Her parents say it’s the best they can expect, but th...
Source: WBZ-TV - Breaking News, Weather and Sports for Boston, Worcester and New Hampshire - Category: Consumer Health News Authors: Tags: Boston News Education Health Syndicated CBSN Boston Coronavirus Source Type: news
Authors: Uysal SP, Sahin M Abstract Tuberous sclerosis complex (TSC) is an autosomal dominant, multisystem disorder that is characterized by cellular and tissue dysplasia in With the advent of genetic and molecular techniques, mutations in TSC1 or TSC2 genes were discovered to be responsible for mTOR overactivation, which is the underlying mechanism of pathogenesis. TSC is a highly heterogenous clinical entity with variable presentations and severity of disease. The brain, heart, skin, eyes, kidneys, and lungs are commonly involved in this syndrome, with the neurologic symptoms comprising a significant source of mo...
Source: Turkish Journal of Medical Sciences - Category: General Medicine Tags: Turk J Med Sci Source Type: research
Persons with NDDs participating in an art competition organized on the occasion of birthday of Father of the Nation Bangabandhu Sheikh Mujibur Rahman, March 2019. Credit: NDD Protection Trust, BangladeshBy Saima W. HossainDHAKA, Bangladesh, Mar 30 2020 (IPS) A few days ago, a friend said to me that my focus on autism, although rather successful, had “sucked out all energy from other critical areas of social need in Bangladesh.” My friend wanted to know if I would be interested in expanding my visibility and successful approach to autism, to other issues that have apparently been left by the wayside due to every...
Source: IPS Inter Press Service - Health - Category: International Medicine & Public Health Authors: Tags: Aid Asia-Pacific Development & Aid Education Featured Global Headlines Health Human Rights TerraViva United Nations Source Type: news
ConclusionOur results show thatmiR-146a expression is critical for correct differentiation of neural stem cell during brain development and provide for the first time a strong argument for a postnatal role ofmiR-146a in regulating hippocampal-dependent memory. Furthermore, the demonstration that theMir146a−/− mouse recapitulates several aspects reported in DBD patients, including impaired neurogenesis, abnormal brain anatomy, and working and spatial memories deficits, provides convincing evidence that the dysregulation ofmiR146a contributes to the pathogenesis of DBDs.
Source: Molecular Autism - Category: Molecular Biology Source Type: research
The objective of this systematic review was to identify and analyze the information available on sexual communication between parents and adolescents with autism spectrum disorder (ASD). Medline/PubMed, Lilacs, Ebsco, Embase, Scielo, Google Scholar, Scirus and Redalyc databases were used to find articles. The inclusion criteria were studies published in indexed databases in English, Spanish and Portuguese with a quantitative and qualitative approach in full text, studies that include a population of parents of adolescents with ASD and adolescents between 10 and 19  years of age with a diagnosis of ASD, and studies tha...
Source: Sexuality and Disability - Category: Disability Source Type: research
ConclusionsPsychosocial interventions should address problems of anxiety and depression that people with MDs frequently experience, even through fostering parents ’ and childrens’ engagement coping over disengagement coping.
Source: Journal of Neurology - Category: Neurology Source Type: research
Calgary-based digital healthcare services company provides digital health expertise and platform that ensures ongoing healthcare delivery in no and low-touch environments
Source: Disabled World - Category: Disability Tags: Telemedicine Source Type: news
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Source: WBZ-TV - Breaking News, Weather and Sports for Boston, Worcester and New Hampshire - Category: Consumer Health News Authors: Tags: Boston News Featured Health Syndicated Local Autism Beverly News Juli McDonald Source Type: news
de J, Poynter JN, Hallas-Muchow L, Constantino JN, Fitzgerald RT, Zahorodny W, Shenouda J, Daniels JL, Warren Z, Vehorn A, Salinas A, Durkin MS, Dietz PM Abstract PROBLEM/CONDITION: Autism spectrum disorder (ASD). PERIOD COVERED: 2016. DESCRIPTION OF SYSTEM: The Autism and Developmental Disabilities Monitoring (ADDM) Network is an active surveillance program that provides estimates of the prevalence of ASD among children aged 8 years whose parents or guardians live in 11 ADDM Network sites in the United States (Arizona, Arkansas, Colorado, Georgia, Maryland, Minnesota, Missouri, New Jersey, North Carolin...
Source: MMWR Surveill Summ - Category: Epidemiology Authors: Tags: MMWR Surveill Summ Source Type: research
Abstract PROBLEM/CONDITION: Autism spectrum disorder (ASD). PERIOD COVERED: 2016. DESCRIPTION OF SYSTEM: The Early Autism and Developmental Disabilities Monitoring (Early ADDM) Network, a subset of the overall ADDM Network, is an active surveillance program that estimates ASD prevalence and monitors early identification of ASD among children aged 4 years. Children included in surveillance year 2016 were born in 2012 and had a parent or guardian who lived in the surveillance area in Arizona, Colorado, Missouri, New Jersey, North Carolina, or Wisconsin, at any time during 2016. Children were identified fro...
Source: MMWR Surveill Summ - Category: Epidemiology Authors: Tags: MMWR Surveill Summ Source Type: research
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