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        157-168 of 493 results for 'CDKL5''

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        Expanding the clinical picture of the MECP2 Duplication syndrome

        People with two or more copies of MECP2 gene, located at Xq28, share clinical features and a distinct facial phenotype called MECP2 Duplication syndrome. ...

        Research

        Respiratory morbidity in Rett syndrome: An observational study

        Rett syndrome is associated with increased vulnerability to lower respiratory tract infection requiring hospitalization ...

        Research

        FDA Patient-Focused Drug Development Guidances: Considerations for Trial Readiness in Rare Developmental and Epileptic Encephalopathies

        Developmental 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.  ...

        Research

        The International Collaboration for Autism Registry Epidemiology (iCARE): Multinational Registry-Based Investigations of Autism Risk Factors and Trends

        iCARE provides a unique, unprecedented resource in autism research that will significantly enhance the ability to detect environmental and genetic... ...

        Research

        The conductive environment enhances gross motor function of girls with Rett syndrome. A pilot study

        This study assessed the functional skills of three girls with RTT aged 35 years before and during participation in a CE programme. ...

        Research

        Unraveling the Optimum Latent Structure of Attention-Deficit/Hyperactivity Disorder: Evidence Supporting ICD and HiTOP Frameworks

        Attention 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. ...

        Research

        Health care utilization and costs for children and adults with duchenne muscular dystrophy

        Annual economic cost of Duchenne Muscular Dystrophy was found to be high, reflecting a significant socioeconomic burden, especially in boys who reach adulthood ...

        Research

        “I have a good life”: the meaning of well-being from the perspective of young adults with Down syndrome

        The 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... ...

        Research

        Longitudinal bone mineral content and density in Rett syndrome and their contributing factors

        Bone mass and density are low in females with Rett syndrome. ...

        Research

        Evolving Trends of Gastrostomy Insertion Within a Pediatric Population

        New gastrostomy insertion among children who require long-term enteral feeding support increased over the study period ...

        Research

        Quality of life beyond diagnosis in intellectual disability – Latent profiling

        To compare quality of life (QOL) across diagnoses associated with intellectual disability, construct QOL profiles and evaluate membership by diagnostic group, function and comorbidities. ...

        Research

        Perspectives on the essential skills of healthcare decision making in children and adolescents with intellectual disability

        Involvement in healthcare decisions is associated with better health outcomes for patients. For children and adolescents with intellectual disability, parents and healthcare professionals need to balance listening to a child's wishes with the responsibility of keeping them safe.  ...

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