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Survival with Rett syndrome: comparing Rett's original sample with data from the Australian Rett syndrome DatabaseRett syndrome is a severe neurodevelopmental disorder that typically affects females. Little is known about the natural history and survival time of these femal
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Level of purposeful hand function as a marker of clinical severity in Rett syndromeWe investigated relationships between hand function and genotype and aspects of phenotype in Rett syndrome
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Valproate and risk of fracture in Rett syndromeThis study investigated the relationships between fracture risk and commonly used AEDs in Rett syndrome.
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Early determinants of fractures in Rett syndromeThe goals were to compare the fracture incidence in Rett syndrome with that in the general population and to investigate the impact of genotype, epilepsy,...
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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...
The Quality of Life Inventory - Disability
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Expanding the phenotype of the CDKL5 deficiency disorder: Are seizures mandatory?These cases, both without seizures but with apparent behavioral symptomatology, together question whether seizures are mandatory in this disorder
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The contributions of fetal growth restriction and gestational age to developmental outcomes at 12 months of age: A cohort studyDevelopmental assessment of infants with fetal growth restriction was mostly comparable to those born without fetal growth restriction at 12 months
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The incidence, prevalence and clinical features of MECP2 duplication syndrome in Australian childrenMECP2 duplication syndrome is a rare but important diagnosis in children because of the burden of respiratory illness and recurrence risk
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Incidence and associated risk factors for falls in adults with intellectual disabilityPeople with intellectual disability fall at a younger age compared with the broader community