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        Research

        Leisure participation for school-aged children with Down syndrome

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

        Research

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

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

        Research

        Validating the rett syndrome gross motor scale

        The Rett Syndrome Gross Motor Scale could be an appropriate measure of gross motor skills in clinical practice and clinical trials ...

        Research

        Family satisfaction following spinal fusion in Rett syndrome

        Families participating in the population-based and longitudinal Australian Rett Syndrome Database whose daughter had undergone spinal fusion provided data on... ...

        Research

        Gross Motor Profile in Rett Syndrome as Determined by Video Analysis

        This study used video supplemented by parent report data to describe the gross motor profile in females with Rett syndrome (n=99) and to investigate... ...

        Research

        Associations Between Hyperphagia, Symptoms of Sleep Breathing Disorder, Behaviour Difficulties and Caregiver Well-Being in Prader-Willi Syndrome: A Preliminary Study

        Prader-Willi syndrome (PWS) is a rare genetic disorder characterised by neurodevelopmental delays, hyperphagia, difficulties with social communication and challenging behaviours. Individuals require intensive supervision from caregivers which may negatively affect caregiver quality of life. This study used data collected in the Australasian PWS Registry to evaluate associations between child behaviours and caregiver mental well-being. ...

        Research

        Relationship between family quality of life and day occupations of young people with Down syndrome

        This study aimed to explore relationships between family quality of life, day occupations and activities of daily living of young persons with Down syndrome. ...

        Research

        The common BDNF polymorphism may be a modifier of disease severity in Rett syndrome

        Rett syndrome (RTT) is caused by mutations in the transcriptional repressor methyl CpG-binding protein 2 (MECP2). ...

        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

        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. ...

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