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        121-132 of 390 results for 'rett syndrome'

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        Measuring use and cost of health sector and related care in a population of girls and young women with Rett syndrome

        This study measured use and cost of health sector and related services in Rett syndrome and effects of socio-demographic, clinical severity and genetic factors ...

        Research

        Measuring use and cost of health sector and related care in a population of girls and young women with Rett syndrome

        This study measured use and cost of health sector and related services in Rett syndrome and effects of socio-demographic, clinical severity and genetic... ...

        Research

        A brief history of MECP2 duplication syndrome: 20-years of clinical understanding

        MECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder caused by a duplication of the methyl-CpG-binding protein 2 (MECP2) gene-a gene in which loss-of-function mutations lead to Rett syndrome (RTT). MDS has an estimated live birth prevalence in males of 1/150,000. ...

        Research

        Overview of health issues in school-aged children with Down Syndrome

        Overview of Health Issues in School-aged Children with Down Syndrome ...

        Research

        Resourceful and creative methods are necessary to research rare disorders

        Our investigation used the infrastructure of InterRett, established in 2002 with dual aims of encour- aging international collaboration and ascertaining the... ...

        Research

        Comparing Parental Well-Being and Its Determinants Across Three Different Genetic Disorders Causing Intellectual Disability

        This cross-sectional study examined parental well-being in caregivers of children with one of three genetic disorders associated with intellectual disability. ...

        Research

        The natural history of the MECP2 Duplication disorder: Australian surveillance and plans for development of an international register

        Helen Jenny Leonard Downs HM JA MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Program Head, Development and Disability +61 419 956 946 08 6319 1763 helen.leonard@telethonkids.org.au Jenny.Downs@telethonkids.org.au Principal Research ...

        Research

        CDKL5 deficiency disorder: clinical features, diagnosis, and management

        CDKL5 deficiency disorder (CDD) was first identified as a cause of human disease in 2004. Although initially considered a variant of Rett syndrome, CDD is now recognised as an independent disorder and classified as a developmental epileptic encephalopathy. ...

        Research

        Expanding the clinical picture of the MECP2 Duplication syndrome

        Perinatal characteristics, early childhood development and medical co-morbidities in MECP2 Duplication syndrome ...

        Research

        Family Functioning in Families with a Child with Down syndrome: A Mixed Methods Approach

        Family Functioning in Families with a Child with Down syndrome: A Mixed Methods Approach... ...

        Research

        Leisure participation for school-aged children with Down syndrome

        Leisure participation for school-aged children with Down syndrome. ...

        Research

        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. ...

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