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        241-252 of 492 results for 'CDKL5'

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        Patient-advocate-led global coalition adapting fit-for-purpose outcomes measures to assure meaningful inclusion of DEEs in clinical trials

        Existing clinical tools that measure non-seizure outcomes lack the range and granularity needed to capture skills in developmental and epileptic encephalopathy (DEE)-affected individuals who also fall in the severe to profound range of intellectual disability. This effectively excludes those with severe impairments from clinical trials, impeding the ability of sponsors to evaluate disease-modifying therapies. ...

        Research

        Investigating genotype-phenotype relationships in Rett syndrome using an international data set

        This study uses data from a large international database, InterRett, to examine genotype-phenotype relationships and compares these with previous findings in... ...

        Research

        Factors associated with dental hospitalisations in children with intellectual disability or autism spectrum disorder: a Western Australian population-based retrospective cohort study

        This study investigated dental hospitalisations in Western Australian (WA) children with intellectual disability (ID) and/or autism spectrum disorder (ASD) aged up to 18 years. ...

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        Strengths and challenging behaviors in children and adolescents with Prader-Willi syndrome: Two sides to the coin

        Prader-Willi Syndrome (PWS) is a rare genetic disorder associated with emotional/behavioral disturbances. These difficulties are well documented in the literature, but the positive attributes of these individuals are not described. ...

        Research

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

        The 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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        Dental admissions in children under two years - A total-population investigation

        This 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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        Initial assessment of the StepWatch Activity Monitor™ to measure walking activity in Rett syndrome

        In girls and women with Rett syndrome, we assessed the accuracy of the StepWatch Activity Monitor™ and investigated relationships between daily step counts,... ...

        Research

        Medical Comorbidities in MECP2 Duplication Syndrome: Results from the International MECP2 Duplication Database

        Since the discovery of MECP2 duplication syndrome (MDS) in 1999, efforts to characterise this disorder have been limited by a lack of large datasets, with small case series often favouring the reporting of certain conditions over others. This study is the largest to date, featuring 134 males and 20 females, ascertained from the international MECP2 Duplication Database (MDBase). ...

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        Longitudinal effects of caregiving on parental well-being: the example of Rett syndrome, a severe neurological disorder

        Our findings suggest that some opportunities do exist for clinicians to help optimise parental well-being ...

        Research

        Diagnosis of Autism Spectrum Disorder According to Maternal-Race Ethnicity and Country of Birth: A Register-Based Study

        An increased prevalence of autism spectrum disorder (ASD) among children of immigrant backgrounds has been observed ...

        Research

        Requirements for improving health and well-being of children with Prader-Willi syndrome and their families

        Prader-Willi syndrome (PWS) is a rare genetic condition with multi-system involvement ...

        Research

        Young adults with intellectual disability transitioning from school to post-school: A literature review framed within the ICF

        The purpose of this review was to describe literature relating to transition for young people with an intellectual disability and identify knowledge base gaps. ...

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