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Research

Adapting a measure of gross motor skills for individuals with CDKL5 deficiency disorder: A psychometric study

Validated 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 experience

Childhood 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 America

Developmental 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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Oral health experiences of individuals with Rett syndrome: A retrospective study

Social advantage may provide some protection for dental health in individuals with Rett syndrome

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Intraoperative neurophysiology monitoring in scoliosis surgery in children

Our study adds to the literature supporting the role of intraoperative neurophysiology monitoring in scoliosis surgery in children

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Association of Genetic and Environmental Factors with Autism in a 5-Country Cohort

Based on population data from 5 countries, the heritability of ASD was estimated to be approximately 80%

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Birth seasonality and risk of autism spectrum disorder

In the first multinational study of birth seasonality of autism spectrum disorder, there was evidence supporting the presence of seasonal trends in Finland and Sweden

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The effects of JASPER intervention for children with autism spectrum disorder: A systematic review

Naturalistic developmental behavioural interventions are promising approaches for young children with, or suspected of having, autism spectrum disorder. Joint attention, symbolic play, engagement and regulation intervention (JASPER) is a well-researched naturalistic developmental behavioural intervention but, to date, no reviews have specifically evaluated its effects.

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Environmental enrichment intervention for Rett syndrome: An individually randomised stepped wedge trial

We investigated the effects of environmental enrichment on gross motor skills and blood BDNF levels in girls with Rett syndrome.

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

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