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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...

Prevalence, clinical investigation, and management of gallbladder disease in Rett syndrome

This study determined the prevalence of cholelithiasis and/or cholecystectomy in Rett syndrome, described gallbladder function in a clinical cohort, and...

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.

Community participation: Conversations with parent-Carers of young women with Rett syndrome

In this paper, the issue of people with profound intellectual and multiple disabilities facing significant challenges to participating in their community is...

Functioning and post-school transition outcomes for young people with Down syndrome

Our analysis shows that functioning in activities of daily living was related to post-school day occupation. Current health status and behaviour were found...

Early development and regression in Rett syndrome

Our findings provide additional insight into the early clinical profile of Rett syndrome.

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.

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...