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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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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...
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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.
Research
Autonomic breathing abnormalities in Rett syndrome: caregiver perspectives in an international database studyOur aims were to characterize the abnormal breathing patterns and abdominal bloating, investigate the distribution of these by age and mutation type and examine their impact and management from a caregiver perspective.
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The phenotype associated with a large deletion on MECP2Multiplex ligation-dependent Probe Amplification (MLPA) has become available for the detection of a large deletion on the MECP2 gene.
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Early development and regression in Rett syndromeOur findings provide additional insight into the early clinical profile of Rett syndrome.
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Caring for a child with severe intellectual disability in China: The example of Rett syndromeIntellectual disability affects more than 1.5% of the population of children in developing countries yet we know little about the daily lives and support...
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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.