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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...

Family functioning in families with a child with Down syndrome: A mixed methods approach

This study aimed to explore the factors that predict functioning in families with a child with Down syndrome using a mixed methods design.

The phenotype associated with a large deletion on MECP2

Multiplex ligation-dependent Probe Amplification (MLPA) has become available for the detection of a large deletion on the MECP2 gene.

Characterising quality of life and its determinants for children with intellectual disability and their families

Andrew Helen Jenny Peter Videos Whitehouse Watch and listen to Andrew Leonard Downs Jacoby PhD MBChB MPH BApplSci (physio) MSc PhD BA (Hons) MSc

IDEA (Intellectual Disability Exploring Answers) Database

IDEA is one of the few population-based resources in the world dedicated to intellectual disability. The IDEA database contains information on all children born in Western Australia since 1983 who have been identified with having an intellectual disability. Individuals with autism spectrum disorder, both with and without intellectual disability, are also included in the database. Deidentified information is accessed from the Department of Communities WA, the WA Department of Education, and the National Disability Insurance Agency (NDIA) to create the database. IDEA can be linked to other datasets to facilitate research into the determinants, outcomes and service needs of children and adults with intellectual disability. Researchers can apply for such linked data, available in a de-identified format under approval from an ethics committee.

IDEA Database

IDEA is one of the few population-based resources in the world dedicated to intellectual disability. The IDEA database contains information on all children born in Western Australia since 1983 who have been identified with having an intellectual disability. Individuals with autism spectrum disorder, both with and

Implementing Telehealth support to increase physical activity in girls and women with Rett syndrome

Helen Jenny Leonard Downs MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Head, Child Disability +61 419 956 946 08 6319 1763

Multigenerational Familial and Environmental Risk for Autism (MINERvA) Network

Emma Helen Glasson Leonard BPsych BSc (Hons) PhD MBChB MPH Senior Research Fellow Principal Research Fellow +61 419 956 946 emma.glasson@

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...

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.