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Showing results for "rett"
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...
Using information from the Australian Rett Syndrome database, we coded symptoms according to severity scales and grouped by type and location of mutation.
Therefore, we wanted to compare the features of girls and women with a C-terminal deletion with those with other MECP2 mutations.
Research
Early progressive encephalopathy in boys and MECP2 mutationsMECP2 mutations mainly occur in females with Rett syndrome. Mutations have been described in 11 boys with progressive encephalopathy...
Research
Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2Rett syndrome (RTT) is an X linked neuro-developmental disorder affecting mostly girls. Mutations in the coding region of MECP2 are found in 80% of classic...
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Home participation resource for children with disability and complex needsFor families with a child with disability, this involves many extra care duties especially if their child has high and complex needs.
Research
Hospitalisation for oral health-related conditions in children with intellectual disability in Western Australia: a population-based cohort studyHelen Leonard MBChB MPH Principal Research Fellow +61 419 956 946 helen.leonard@thekids.org.au Principal Research Fellow Areas of research expertise
Research
Overview of health issues in school-aged children with Down SyndromeOverview of Health Issues in School-aged Children with Down Syndrome
Research
Siblings of children with disabilities: challenges and opportunitiesSiblings of children with disabilities: challenges and opportunities
