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        Research

        Qualitative Analysis of Parental Observations on Quality of Life in Australian Children with Down Syndrome

        We investigated parental observations to identify QOL domains in children with Down Syndrome and determined whether domains differed between children and teens. ...

        Research

        Choice making in Rett syndrome: a descriptive study using video data

        We describe the choice-making abilities of girls and women with Rett syndrome. ...

        Research

        Validation of intellectual disability coding through hospital morbidity records using an intellectual disability population-based database in Western Australia

        To investigate how well intellectual disability (ID) can be ascertained using hospital morbidity data compared with a population-based data source. ...

        Research

        Improved Survival in Down Syndrome over the Last 60 Years and the Impact of Perinatal Factors in Recent Decades

        Improved survival for children born with Down syndrome over the last 60 years has occurred incrementally, but disparities still exist ...

        Research

        Maternal Conditions and Perinatal Characteristics Associated with Autism Spectrum Disorder and Intellectual Disability

        Findings show that indicators of a poor intrauterine environment are associated with an elevated risk of ID, while for ASD, and particularly ASD without ID,... ...

        Research

        Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays

        Parents of children living with rare chronic and complex diseases have called for better education and resourcing of health professionals ...

        Research

        Feasibility of assessing diet with a mobile food record for adolescents and young adults with down syndrome

        The aim was to assess the feasibility of assessing diet with an image-based mobile food record application in 51 adolescents and young adults with Down syndrome. ...

        Research

        The Western Australian family connections genealogical project: Detection of familial occurrences of single gene and chromosomal Disorders

        This study utilised a Western Australian (WA) genealogical database for the identification of single gene and chromosome disorders among families. ...

        Research

        What does the nature of the MECP2 mutation tell us about parental origin and recurrence risk in Rett syndrome?

        The MECP2 mutations occurring in the severe neurological disorder Rett syndrome are predominantly de novo, with rare familial cases. The aims of this study... ...

        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 ...

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