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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

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

Systematic sequencing of all X-chromosomal genes in patients with genetic evidence for X-chromosome locus involvement may resolve 58% of Fragile X-negative cases

Child Disability

Improving the lives of children with a disability and their families sits at the core of our team.

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.

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.

Research

Pregnancy and birth outcomes of mothers with intellectual disability and their infants: Advocacy needed to improve well-being

For mothers with intellectual disability, modifiable risk factors for adverse outcomes need addressing

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

Research

Feasibility of assessing diet with a mobile food record for adolescents and young adults with down syndrome

The aim was to assess the feasibility of assessing diet with an image-based mobile food record application in 51 adolescents and young adults with Down syndrome.

Research

Impacts of caring for a child with the CDKL5 disorder on parental wellbeing and family quality of life

Investigate impacts on maternal health and family quality of life in families with a child with the CDKL5 disorder