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        541-552 of 970 results for 'Autism'

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        Improving clinical trial readiness to accelerate development of new therapeutics for Rett syndrome

        Rett syndrome is associated with severe functional impairments and many comorbidities, each in urgent need of treatments. Mutations in the MECP2 gene were identified as causing Rett syndrome in 1999. Over the past 20 years there has been an abundance of preclinical research with some studies leading to human clinical trials. ...

        Research

        Determinants of quality of life in Rett syndrome: New findings on associations with genotype

        Rett syndrome is a genetically caused neurodevelopmental disorder associated with functional deficits and comorbidities. This study investigated relationships between genotype, functional abilities and comorbidities and quality of life in Rett syndrome. ...

        Research

        Autonomic breathing abnormalities in Rett syndrome: caregiver perspectives in an international database study

        Our aims were to characterize the abnormal breathing patterns and abdominal bloating, investigate the distribution of these by age and mutation type and examine their impact and management from a caregiver perspective. ...

        Research

        Day occupation is associated with psychopathology for adolescents and young adults with Down syndrome

        In comparison to those young adults attending open employment from 2009 to 2011, those attending day recreation programs were reported to experience... ...

        Research

        Caring for a child with severe intellectual disability in China: The example of Rett syndrome

        Intellectual disability affects more than 1.5% of the population of children in developing countries yet we know little about the daily lives and support... ...

        Research

        Functioning and post-school transition outcomes for young people with Down syndrome

        Our analysis shows that functioning in activities of daily living was related to post-school day occupation. Current health status and behaviour were found... ...

        Research

        Early development and regression in Rett syndrome

        Our findings provide additional insight into the early clinical profile of Rett syndrome. ...

        Research

        To Feel Belonged: The Voices of Children and Youth with Disabilities on the Meaning of Wellbeing

        The aim of this paper was to describe the meaning of wellbeing for children and youth with disabilities from their perspective. ...

        Research

        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. ...

        Research

        The Lived Experience of Parents’ Receiving the Diagnosis of CDKL5 Deficiency Disorder for Their Child

        CDKL5 deficiency disorder (CDD), a severe developmental and epileptic encephalopathy, is being diagnosed earlier with improved access to genetic testing, but this may also have unanticipated impacts on parents’ experience receiving the diagnosis. This study explores the lived experience of parents receiving a diagnosis of CDD for their child using mixed methods. ...

        Research

        The incidence, prevalence and clinical features of MECP2 duplication syndrome in Australian children

        MECP2 duplication syndrome is a rare but important diagnosis in children because of the burden of respiratory illness and recurrence risk ...

        Research

        Use of the ketogenic diet to manage refractory epilepsy in CDKL5 disorder

        In view of its side effect profile, ketogenic diet (KD) administration should be supervised by a pediatric neurologist and specialist dietician. ...

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