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Application of Population-Based Linked Data to the Study of Intellectual Disability and Autism

Data linkage is the bringing together of specific datasets from different sources using demographic information on individuals within a population.

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...

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 and to explore spirituality.

Relationship between family quality of life and day occupations of young people with Down syndrome

This study aimed to explore relationships between family quality of life, day occupations and activities of daily living of young persons with Down syndrome.

The Western Australian family connections genealogical project: Detection of familial occurrences of single gene and chromosomal Disorders

This study utilised a Western Australian (WA) genealogical database for the identification of single gene and chromosome disorders among families.

The diagnostic odyssey to Rett syndrome: The experience of an Australian family

The diagnosis of a rare disorder is dependent on the clinician's particular knowledge and experience, and can be challenging when the presentation is variable.

Barriers to diagnosis of a rare neurological disorder in China-Lived experiences of Rett syndrome families

Fourteen of 74 Chinese families known to the International Rett Syndrome Phenotype Database participated in this qualitative study.

Early development and regression in Rett syndrome

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

Validating the rett syndrome gross motor scale

The Rett Syndrome Gross Motor Scale could be an appropriate measure of gross motor skills in clinical practice and clinical trials

There is variability in the attainment of developmental milestones in the CDKL5 disorder

Individuals with the CDKL5 disorder have been described as having severely impaired development.