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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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“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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Pre-existing differences in mothers of children with Autism Spectrum disorder and/or intellectual disability: A reviewThe aim of this study is to review research on the pre-existing characteristics which differentiate mothers of children with ASD and/or ID of unknown cause...
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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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Dental admissions in children under two years - A total-population investigationThis paper describes dental and oral cavity admissions and associated factors in children under two years of age using total-population databases.
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"The problem with running"-Comparing the propulsion strategy of children with Developmental Coordination Disorder and typically developing childrenChildren with Developmental Coordination Disorder (DCD) often have difficulties running.
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Maternal Race-Ethnicity, Immigrant Status, Country of Birth, and the Odds of a Child With AutismIn this study, we used 134 204 mother population to examine the odds of ASD with intellectual disability in children from 1994 to 2005 with these features
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Health care utilization and costs for children and adults with duchenne muscular dystrophyThe annual economic cost of DMD was found to be high, reflecting a significant socioeconomic burden, especially in boys who reach adulthood
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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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The increasing prevalence of reported diagnoses of childhood psychiatric disorders: a descriptive multinational comparisonThe objective of this study is to compare the time trend of reported diagnoses of autism spectrum disorder, hyperkinetic disorder, Tourette's syndrome, and...