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Research

Towards a molecular characterization of autism spectrum disorders: An exome sequencing and systems approach

This paper profiles the functional pattern of DNA variants found at a higher rate in patients with autism spectrum disorder (ASD), X-linked intellectual...

Research

Community participation for girls and women living with Rett syndrome

This paper aimed to describe the relationships between level of impairment and participation in community activities for girls and women with Rett syndrome.

Research

Intellectual disability and other neuropsychiatric outcomes in high-risk children of mothers with schizophrenia, bipolar disorder and unipolar major depression

We examined risk of intellectual disability and other neuropsychiatric outcomes in children of mothers with and without schizophrenia, bipolar or depression.

News & Events

Feeding change helps keep kids with intellectual disability out of hospital

Children with intellectual disability who underwent gastrostomy – a feeding tube placed into the stomach – had better overall health and fewer hospitalisations for all causes except acute respiratory illnesses, research led by The Kids Research Institute Australia has found.

News & Events

Improving health access for children and families living with intellectual disability

A project led by The Kids Research Institute Australia’s child disability team will seek to reduce potentially preventable hospitalisations and build health literacy for children and young people with intellectual disability.

Research

Evaluation of the processes of family-centred care for young children with intellectual disability in Western Australia

Government early intervention services for children with intellectual disability (ID) in Western Australia have adopted the model of family-centred care.

Research

International trends of Down syndrome 1993-2004: Births in relation to maternal age and terminations of pregnancies

The aim of this study was to examine trends of Down syndrome (DS) in relation to maternal age and termination of pregnancies (ToP) in 20 registries

Rare Diseases

While individual diseases are rare, as a group, rare diseases are common. Recent estimates suggest that between 3% and 6% of the world’s population are affected by rare disease.

Research

Health conditions and their impact among adolescents and young adults with down syndrome

The aim of this study was to examine the prevalence of medical conditions and use of health services among young adults with Down syndrome and describe the...

Research

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.