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Research

The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy

The clinical understanding of the CDKL5 disorder remains limited, with most information being derived from small patient groups seen at individual centres.

Research

Altered attainment of developmental milestones influences the age of diagnosis of rett syndrome

This study describes the attainment of gross developmental milestones and regression, and assesses the relationships between genotype and age at diagnosis.

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It's not what you were expecting, but it's still a beautiful journey: The experience of mothers of children with Down syndrome

The purpose of this study was to describe qualitatively the experience of parenting for mothers of a child with Down syndrome.

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Leisure participation for school-aged children with Down syndrome

Leisure participation for school-aged children with Down syndrome.

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Family Functioning in Families with a Child with Down syndrome: A Mixed Methods Approach

Family Functioning in Families with a Child with Down syndrome: A Mixed Methods Approach...

Research

A comparison of autism prevalence trends in Denmark and Western Australia

Prevalence statistics for autism spectrum disorders (ASD) vary widely across geographical boundaries. Some variation can be explained by diagnostic methods...

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Trends in pre-existing mental health disorders among parents of infants born in Western Australia from 1990 to 2005

From 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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Use of equipment and respite services and caregiver health among Australian families living with Rett syndrome

This study assessed factors that could influence equipment and respite services use among Australian families caring for a girl/woman with Rett syndrome and...

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A fine balance and a shared learning journey: Exploring healthcare engagement through the experiences of youth with Neuromuscular Disorders

Explored Youth with Neuromuscular Disorders perceptions of health, health behaviors and healthcare engagement

Research

Family satisfaction following spinal fusion in Rett syndrome

We evaluated family satisfaction following spinal fusion in girls with Rett syndrome