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Research

Validation of intellectual disability coding through hospital morbidity records using an intellectual disability population-based database in Western Australia

To investigate how well intellectual disability (ID) can be ascertained using hospital morbidity data compared with a population-based data source.

Research

Spinal fusion in girls with Rett syndrome: Post-operative recovery and family experiences

Rett syndrome is a severe neurodevelopmental disorder mainly affecting females and scoliosis is a common co-morbidity. Spinal fusion may be recommended if...

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

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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.

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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.

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Family satisfaction following spinal fusion in Rett syndrome

Families participating in the population-based and longitudinal Australian Rett Syndrome Database whose daughter had undergone spinal fusion provided data on...

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

Adapting a measure of gross motor skills for individuals with CDKL5 deficiency disorder: A psychometric study

Validated measures capable of demonstrating meaningful interventional change in the CDKL5 deficiency disorder (CDD) are lacking. The study objective was to modify the Rett Syndrome Gross Motor Scale (RSGMS) and evaluate its psychometric properties for individuals with CDD.

Research

Substances Detected During Coroner Postmortem Toxicology Analyses in Poisoning- and Nonpoisoning-Related Suicides

Determining the association between drug use and suicide is complicated but can help to inform targeted suicide prevention strategies.