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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...
This study determined the prevalence of cholelithiasis and/or cholecystectomy in Rett syndrome, described gallbladder function in a clinical cohort, and...
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.
In this paper, the issue of people with profound intellectual and multiple disabilities facing significant challenges to participating in their community is...
Our analysis shows that functioning in activities of daily living was related to post-school day occupation. Current health status and behaviour were found...
Our findings provide additional insight into the early clinical profile of 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...
This study aimed to explore the factors that predict functioning in families with a child with Down syndrome using a mixed methods design.
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...