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Research

Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2

Rett syndrome (RTT) is an X linked neuro-developmental disorder affecting mostly girls. Mutations in the coding region of MECP2 are found in 80% of classic...

Research

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.

Research

The triple challenges associated with age-related comorbidities in Down syndrome

Major increases in the survival of people with Down syndrome during the last two generations have resulted in extended periods of adulthood requiring...

Research

Onset of maternal psychiatric disorders after the birth of a child with intellectual disability: A retrospective cohort study

Mothers of a child with intellectual disability (ID) have more psychiatric disorders after the birth of their child than other mothers.

Research

Experiences Impacting the Quality of Life of Mothers of Children With Autism and Intellectual Disability

Mothers of autistic children and adults bewtween 11 and 24 years old were interviewed about the impacts and rewards associated with their children's disability.

Research

Influence of the environment on participation in social roles for young adults with down syndrome

The purpose of this study is to describe the social participation of young adults with Down syndrome and examine its relationship with the physical and...

Research

Community participation for girls and women living with Rett syndrome

Participation for girls and women with Rett syndrome could be enhanced by stronger local community supports.

Research

Maternal Psychiatric Disorder and the Risk of Autism Spectrum Disorder or Intellectual Disability in Subsequent Offspring

This study adds to existing evidence that the rate of pre-existing psychiatric disorders in mothers of children with autism spectrum disorder is higher than...