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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

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.

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.

The CDKL5 Disorder

One of the many reasons for setting up the International CDKL5 Disorder Database was to learn more about this condition.

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

Improved Survival in Down Syndrome over the Last 60 Years and the Impact of Perinatal Factors in Recent Decades

Improved survival for children born with Down syndrome over the last 60 years has occurred incrementally, but disparities still exist

Research

The experiences of mothers of young adults with an intellectual disability transitioning from secondary school to adult life

The transition from school to adulthood for young adults with an intellectual disability involves movement from a generally secure and supported school...