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Research
The Western Australian family connections genealogical project: Detection of familial occurrences of single gene and chromosomal DisordersThis study utilised a Western Australian (WA) genealogical database for the identification of single gene and chromosome disorders among families.
Research
Admissions in Children with Down Syndrome: Experience of a Population-Based Cohort Followed from BirthThis study describes patterns of hospitalisations for children and young people with Down syndrome in Western Australia.
Research
Perspectives on hand function in girls and women with Rett syndromeHand function is particularly affected and we discuss theoretical and practical perspectives for optimising hand function in Rett syndrome.
Research
The experiences of mothers of young adults with an intellectual disability transitioning from secondary school to adult lifeThe transition from school to adulthood for young adults with an intellectual disability involves movement from a generally secure and supported school...
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
What does the nature of the MECP2 mutation tell us about parental origin and recurrence risk in Rett syndrome?The MECP2 mutations occurring in the severe neurological disorder Rett syndrome are predominantly de novo, with rare familial cases. The aims of this study...
News & Events
Thinking big to tackle kids’ brain developmentIf there’s one thing modern researchers and health professionals now understand, it’s that for so many diseases and conditions affecting children and adolescents, early intervention is crucial.
News & Events
Project helps Ethan belongEthan recently took part in Belong, a study led by The Kids which aims to ensure deaf and hard of hearing kids have a happy & positive school experience
News & Events
Video: One brave little girl's battle with Rett syndromeImagine your baby is developing normally, then suddenly she starts losing skills. Watch Marlee's story below and find out what researchers are doing.
Research
Resting Energy Expenditure and Metabolic Features in Children With Septo-Optic DysplasiaSepto-optic dysplasia (SOD) is a major cause of congenital hypopituitarism and is known to be associated with overweight and obesity in up to 44% of children. Given the role of the hypothalamus in hormonal regulation, we sought to assess the association of resting energy expenditure (REE), appetite and physical activity with SOD.