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        641-650 of 1299 results for 'Autism'

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        Chance to showcase WA expertise on the international stage thanks to Aspire Awards

        Two of Telethon Kids Institute’s best and brightest will share in $10,000 of funding to use for investment in their professional growth through attendance at an international conference, when safe to do so. ...

        Research

        Implementing Telehealth support to increase physical activity in girls and women with Rett syndrome

        Helen Jenny Leonard Downs HM JA MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Program Head, Development and Disability +61 419 956 ...

        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

        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

        Oral health education and promotion in special needs children: Systematic review and meta-analysis

        To review the effectiveness of oral health education and oral health promotion interventions for children and adolescents with intellectual and developmental disabilities (IDD), in ensuring optimal gingival health, caries experience and oral health-related quality of life, compared to no interventions or alternative interventions. ...

        Research

        Using directed-content analysis to identify a framework for understanding quality of life in adults with Rett syndrome

        Rett syndrome (RTT) is a rare neurodevelopmental disorder mainly affecting females and is caused by a mutation in the MECP2 gene. Recent research identified the domains of quality of life (QOL) important for children with RTT but there has been no investigation of domains important for adults. This qualitative study explored QOL in adults with RTT and compared domains with those previously identified for children. ...

        Research

        Longitudinal Evaluation of the Stability of Hand Function in Rett Syndrome

        We investigated the longitudinal stability of hand function in Rett syndrome and to analyze further the relationships between stability of hand function and genotype, age, and walking ability. Study design: Longitudinal video data of functional abilities of individuals with genetically confirmed Rett syndrome were collected by families of individuals registered with the Australian Rett Syndrome Database. ...

        Research

        Measurement of Sedentary Behaviors or "downtime" in Rett Syndrome

        This study aimed to validate measures of sedentary time in individuals with Rett syndrome. ...

        Research

        Gastrointestinal dysmotility in rett syndrome

        Through evidence review and the consensus of an expert panel, we developed recommendations for the clinical management of gastroesophageal reflux disease,... ...

        Research

        Change in Gross Motor Abilities of Girls and Women With Rett Syndrome Over a 3- to 4-Year Period

        We describe change in gross motor function over 3 to 4 years for 70 subjects participating in the Australian Rett Syndrome Database ...

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