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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).
We aim to ensure that high quality outcome measures are available to evaluate treatments and services for children with disability rigorously. We aim to translate our research into resources to support families, carers and clinicians.
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.
Research
Community participation: Conversations with parent-Carers of young women with Rett syndromeIn this paper, the issue of people with profound intellectual and multiple disabilities facing significant challenges to participating in their community is...
Research
Facilitators and Barriers of Participation in “Uptime” Activities in Girls and Women With Rett Syndrome: Perspectives From Parents and ProfessionalsThis study explored facilitators and barriers to "uptime" (non-sedentary) activities in Danish girls and women with Rett syndrome
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Conceptualizing a quality of life framework for girls with Rett syndrome using qualitative methodsExisting quality of life scales for children in the general population or with other disabilities did not capture the QOL of children with Rett syndrome
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Building the repertoire of measures of walking in Rett syndromeThis study aimed to determine measurement properties of a modified 2MWT and a modified Rett syndrome-specific FMS-RS in Rett syndrome.
Research
Orthopaedic issues in Rett SyndromeThis chapter reviews the prevalence, characteristics, and clinical management of orthopedic problems in RTT.