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Maternal Conditions and Perinatal Characteristics Associated with Autism Spectrum Disorder and Intellectual Disability

Findings show that indicators of a poor intrauterine environment are associated with an elevated risk of ID, while for ASD, and particularly ASD without ID,...

Video: One brave little girl's battle with Rett syndrome

Imagine your baby is developing normally, then suddenly she starts losing skills. Watch Marlee's story below and find out what researchers are doing.

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

Early development and regression in Rett syndrome

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

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.

Birth seasonality and risk of autism spectrum disorder

In the first multinational study of birth seasonality of autism spectrum disorder, there was evidence supporting the presence of seasonal trends in Finland and Sweden