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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
NTNG1 mutations are a rare cause of Rett syndromeA translocation that disrupted the netrin G1 gene (NTNG1) was recently reported in a patient with the early seizure variant of Rett syndrome (RTT).
Research
Screening for retinopathy of prematurity to prevent blindness (RETCAM)Retinopathy of prematurity (ROP) is an eye disease that can occur in premature babies. It causes abnormal blood vessels to grow in the retina, and
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Long-term developmental follow-up of very preterm infants to school age and to young adulthood, and developmental follow up of surgical infants to two years of ageTobias Strunk MD, PhD, FRACP Head, Neonatal Health tobias.strunk@thekids.org.au Head, Neonatal Health Clinical Professor Tobias Strunk is a
Research
Characterization of “bystander” effects of the diphtheria-pertussis-tetanus (DTP) vaccine on the IgE systemWe are seeking more detailed information on how the immune system of infants responds to the vaccine, with the aim of identifying which aspects of the immune r
Research
Family Study of Ear Health and Metabolic Diseases in a Western Australian Aboriginal CommunityTo determine whether these extreme manifestations of disease are associated with rare or novel genetic variants in a Western Australian Aboriginal population.
MECP2 duplication syndrome is a rare disorder neurodevelopmental disorder that, unlike Rett syndrome, mostly affects boys.
Our research covers a broad range of areas from the influence of mutation type on health outcomes to factors impacting on the lives of familes.
Regression, including the loss of previously learned skills, such as hand function and communication skills, is one of the most suggestive features of Rett synd
Our study investigated the quality of measurements obtained using the Rett Syndrome Gross Motor Scale.