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Research
Impact of prenatal screening and diagnostic testing on trends in Down syndrome births and terminations in Western Australia 1980 to 2013To assess how prenatal screening and diagnostic testing have impacted the diagnosis, termination and birth prevalence of Down syndrome in Western Australia...
Research
Onset of maternal psychiatric disorders after the birth of a child with autism spectrum disorder: A retrospective cohort studyMothers of a child with autism spectrum disorder have more psychiatric disorders after the birth of their child.
Research
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genesSystematic sequencing of all X-chromosomal genes in patients with genetic evidence for X-chromosome locus involvement may resolve 58% of Fragile X-negative cases
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 disabilityA 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 hospitalChildren 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.
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 DisabilityFindings 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
Validation of intellectual disability coding through hospital morbidity records using an intellectual disability population-based database in Western AustraliaTo investigate how well intellectual disability (ID) can be ascertained using hospital morbidity data compared with a population-based data source.
Research
Impacts of caring for a child with the CDKL5 disorder on parental wellbeing and family quality of lifeInvestigate impacts on maternal health and family quality of life in families with a child with the CDKL5 disorder