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Novel approaches to measuring cognition in individuals with severe to profound functional impairment: A pilot study in SCN2A-related disorderValid clinical outcome assessments with the ability to capture meaningful aspects of neurodevelopment for individuals with neurogenetic conditions associated with profound functional impairments are lacking, yet critical for clinical care and clinical trial readiness.
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“Broken fragments or a breathtaking mosaic”: A mixed methods study of self-reported attributes and aspirations of siblings of individuals with and without neurodevelopmental conditionsSiblings of individuals with neurodevelopmental conditions (NDCs) experience distinct challenges and have unique strengths compared to siblings of individuals without NDCs.
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Brief Report: Burden of Care in Mothers of Children with Autism Spectrum Disorder or Intellectual DisabilityMothers of children with autism spectrum disorder or intellectual disability have higher rates of treatment episodes for psychiatric disorders
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Family satisfaction following spinal fusion in Rett syndromeWe evaluated family satisfaction following spinal fusion in girls with Rett syndrome
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The relationship between maternal psychiatric disorder, autism spectrum disorder and intellectual disability in the child: a composite pictureResearch conducted by this laboratory has previously published four papers examining the relationship between maternal psychiatric disorders and having a...
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Aspects of speech-language abilities are influenced by MECP2 mutation type in girls with Rett syndromeThis study investigates relationships between methyl-CpG-binding protein 2 gene (MECP2) mutation type and speech-language abilities in girls with Rett syndrome.
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Hospital admissions and gestational age at birth: 18 Years of follow up in Western AustraliaThis effect of gestational age on rehospitalisation for infants born preterm is highest in the first year post-discharge, but almost disappeared by adolescence
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Prevalence, clinical investigation, and management of gallbladder disease in Rett syndromeThis study determined the prevalence of cholelithiasis and/or cholecystectomy in Rett syndrome, described gallbladder function in a clinical cohort, and...
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Trends in pre-existing mental health disorders among parents of infants born in Western Australia from 1990 to 2005From 1990 to 2005, there was an increase in prevalence of parents with a prior history of mental health disorders in WA.
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The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathyThe clinical understanding of the CDKL5 disorder remains limited, with most information being derived from small patient groups seen at individual centres.