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Showing results for "rett"
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Charting developmental trajectories from 12 to 36 months and associated early risk and protective factorsTo investigate developmental trajectories in early childhood and predictors of class assignment.
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The Risk of Neurodevelopmental Disabilities in Children of Immigrant and Refugee Parents: Current Knowledge and Directions for Future ResearchWe investigated the literature from 2002 to 2016 describing the risk of ASD, intellectual disability and ADHD in children of refugee and immigrant backgrounds.
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The Feasibility of Personalized Endpoints in Assessing Treatment Outcomes for Rare Diseases: A Pilot Study of Goal Attainment Scaling in SCN2A-AssociatedFor individuals living with rare neurodevelopmental disorders, particularly those who are at the most severe end of the spectrum, standardized outcome measures may lack the sensitivity to capture small but meaningful changes.
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Using Focussed Ethnography to Observe and Understand the Actions and Interactions of People With Prader-Willi Syndrome When They Exercise at a Community Gym: A ProtocolExercise for people with Prader-Willi syndrome (PWS) is important for their health and wellbeing and can provide opportunities for community participation. However, they may find it difficult to participate in some contexts, such as community gyms because social and environmental barriers in these settings may compound difficulties caused by physical impairments or intellectual disability.
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FDA Patient-Focused Drug Development Guidances: Considerations for Trial Readiness in Rare Developmental and Epileptic EncephalopathiesDevelopmental and epileptic encephalopathies (DEE) are rare, often monogenic neurodevelopmental conditions. Most affected individuals have refractory seizures. All have multiple severe impairments which can be as life-limiting as or more limiting than the seizures themselves. Mechanism- and gene-targeted therapies for these individually rare, genetic conditions hold hope for treatment, amelioration of disease expression, and even cure.
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Unraveling the Optimum Latent Structure of Attention-Deficit/Hyperactivity Disorder: Evidence Supporting ICD and HiTOP FrameworksAttention Deficit/hyperactivity disorder (ADHD) is conceptualized differently in the Diagnostic and Statistical Manual (DSM-5), the International Classification of Diseases-10 (ICD-10), and the Hierarchical Taxonomy of Psychopathology (HiTOP) frameworks. This study applied independent cluster confirmatory factor analysis (ICM-CFA), exploratory structure equation model with target rotation (ESEM), and the S-1 bi-factor CFA approaches to evaluate seven ADHD models yielded by different combinations of these taxonomic frameworks.
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“I have a good life”: the meaning of well-being from the perspective of young adults with Down syndromeThe purposes of this study were to explore what makes for a "good life" from the perspective of young adults with Down syndrome and to identify the barriers...
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The International Collaboration for Autism Registry Epidemiology (iCARE): Multinational Registry-Based Investigations of Autism Risk Factors and TrendsiCARE provides a unique, unprecedented resource in autism research that will significantly enhance the ability to detect environmental and genetic...
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Health care utilization and costs for children and adults with duchenne muscular dystrophyAnnual economic cost of Duchenne Muscular Dystrophy was found to be high, reflecting a significant socioeconomic burden, especially in boys who reach adulthood
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Development of an International Database for a Rare Genetic Disorder: The MECP2 Duplication Database (MDBase)The natural history of MECP2 duplication syndrome (MDS), a rare X-linked neurodevelopmental disorder with an estimated birth prevalence of 1/150,000 live births, is poorly understood due to a lack of clinical data collected for research. Such information is critical to the understanding of disease progression, therapeutic endpoints and outcome measures for clinical trials, as well as the development of therapies and orphan products.