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Showing results for "autism"
Research
Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation familiesEpilepsy and mental retardation limited to females (EFMR) is an intriguing X-linked disorder affecting heterozygous females and sparing hemizygous males.
Research
Impact for DCDMelissa Gail Matt Jenny Andrew Videos Licari Alvares Cooper Downs Whitehouse Watch and listen to Andrew PhD PhD BCA Marketing, BSc Statistics and
Research
IDEA (Intellectual Disability Exploring Answers) DatabaseIDEA is one of the few population-based resources in the world dedicated to intellectual disability. The IDEA database contains information on all children born in Western Australia since 1983 who have been identified with having an intellectual disability. Individuals with autism spectrum disorder, both with and without intellectual disability, are also included in the database. Deidentified information is accessed from the Department of Communities WA, the WA Department of Education, and the National Disability Insurance Agency (NDIA) to create the database. IDEA can be linked to other datasets to facilitate research into the determinants, outcomes and service needs of children and adults with intellectual disability. Researchers can apply for such linked data, available in a de-identified format under approval from an ethics committee.
News & Events
The Kids researchers named as finalists in 2023 Premier’s Science AwardsFive The Kids Research Institute Australia researchers working across diverse and highly impactful areas of child health research have been named as finalists for the 2023 Premier’s Science Awards.
Research
Patterns, trends, and factors influencing hospitalizations for craniosynostosis in Western Australia. A population-based studyUnderstanding hospital service use among children with a diagnosis of craniosynostosis is important to improve services and outcomes. This study aimed to describe population-level trends, patterns, and factors influencing hospitalizations for craniosynostosis in Western Australia.
Research
Dental admissions in children under two years - A total-population investigationThis paper describes dental and oral cavity admissions and associated factors in children under two years of age using total-population databases.
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Health care utilization and costs for children and adults with duchenne muscular dystrophyThe annual economic cost of DMD was found to be high, reflecting a significant socioeconomic burden, especially in boys who reach adulthood
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The common BDNF polymorphism may be a modifier of disease severity in Rett syndromeRett syndrome (RTT) is caused by mutations in the transcriptional repressor methyl CpG-binding protein 2 (MECP2).
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Investigating genotype-phenotype relationships in Rett syndrome using an international data setThis study uses data from a large international database, InterRett, to examine genotype-phenotype relationships and compares these with previous findings in...
