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Perspectives on hand function in girls and women with Rett syndromeHand function is particularly affected and we discuss theoretical and practical perspectives for optimising hand function in Rett syndrome.
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The Western Australian family connections genealogical project: Detection of familial occurrences of single gene and chromosomal DisordersThis study utilised a Western Australian (WA) genealogical database for the identification of single gene and chromosome disorders among families.
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Family satisfaction following spinal fusion in Rett syndromeFamilies participating in the population-based and longitudinal Australian Rett Syndrome Database whose daughter had undergone spinal fusion provided data on...
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Health conditions and their impact among adolescents and young adults with down syndromeThe aim of this study was to examine the prevalence of medical conditions and use of health services among young adults with Down syndrome and describe the...
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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...
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Adapting a measure of gross motor skills for individuals with CDKL5 deficiency disorder: A psychometric studyValidated measures capable of demonstrating meaningful interventional change in the CDKL5 deficiency disorder (CDD) are lacking. The study objective was to modify the Rett Syndrome Gross Motor Scale (RSGMS) and evaluate its psychometric properties for individuals with CDD.
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Young adult outcomes following premature birth: A Western Australian experienceChildhood outcomes following preterm birth are widely published, however long-term adult outcomes are less well described. We aimed to determine the quality of life and burden of co-morbidities experienced by preterm-born young adults in Western Australia.
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The impact for DCD – USA study: The current state of Developmental Coordination Disorder (DCD) in the United States of AmericaDevelopmental Coordination Disorder (DCD) is among the most under-recognized and under-supported disorders worldwide. The aim of this study was to present a preliminary national study that evaluated the unmet needs of children with DCD in the USA using the Impact for DCD survey.
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Substances Detected During Coroner Postmortem Toxicology Analyses in Poisoning- and Nonpoisoning-Related SuicidesDetermining the association between drug use and suicide is complicated but can help to inform targeted suicide prevention strategies.
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Systematic Review and Meta-analysis: Early Irritability as a Transdiagnostic Neurodevelopmental Vulnerability to Later Mental Health ProblemsIrritability is a transdiagnostic indicator of child and adolescent internalizing and externalizing problems that is measurable from early life. The objective of this systematic review was to determine the strength of the association between irritability measured from 0 to 5 years and later internalizing and externalizing problems, to identify mediators and moderators of these relationships, and to explore whether the strength of the association varied according to irritability operationalization.