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Gross Motor Profile in Rett Syndrome as Determined by Video AnalysisThis study used video supplemented by parent report data to describe the gross motor profile in females with Rett syndrome (n=99) and to investigate...
Research
The impact of having a sibling with an intellectual disability:parental perspectives in two disordersThis study describes the impact of having a sibling with Down syndrome or Rett syndrome using a questionnaire completed by parents.
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The diagnosis of autism in a female: could it be Rett syndrome?The aims of this study were to compare the early and subsequent clinical courses of female subjects with Rett syndrome categorised by whether...
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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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Sleep problems in Rett syndromeSleep problems are thought to occur commonly in Rett syndrome, but there has been little research on prevalence or natural history.
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Development of a video-based evaluation tool in Rett syndromeThis paper describes the development of a video-based evaluation tool for use in Rett syndrome (RTT).
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Seizures in Rett syndrome: an overview from a one-year calendar studyInformation on daily seizure occurrence and health service utilization and monthly anti-epileptic drug use was provided on 162 Rett syndrome cases for a...
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Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male probandComprehensive genetic screening programs have led to the identification of pathogenic methyl-CpG-binding protein 2 (MECP2) mutations...
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Physical and mental health of mothers caring for a child with Rett syndromeThis study compared the behavior profile of cases in the Australian Rett Syndrome Database (ARSD) with those in a British study using the Rett Syndrome...
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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...