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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

Research

Investigating falls in adults with intellectual disability living in community settings and their experiences of post-fall care services

This study will determine the rate of falls among older adults with ID living in community based settings, which will assist to identify the extent of this problem

Research

Onset of maternal psychiatric disorders after the birth of a child with autism spectrum disorder: A retrospective cohort study

Mothers of a child with autism spectrum disorder have more psychiatric disorders after the birth of their child.

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.

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.

The CDKL5 Disorder

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

Research

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,...

Research

Admissions in Children with Down Syndrome: Experience of a Population-Based Cohort Followed from Birth

This study describes patterns of hospitalisations for children and young people with Down syndrome in Western Australia.

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...