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Showing results for "rett"
We developed recommendations to assess and manage issues relating to poor growth and weight gain in Rett syndrome, including consideration of gastrostomy.
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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.
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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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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).
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Rett Syndrome Behaviour Questionnaire: Variability of Scores and Related FactorsRett syndrome (RTT) is a severe neurodevelopmental disorder affecting predominantly females and associated with variants in the MECP2 gene. Recent success in clinical trials have resulted in an expanded use of the Rett Syndrome Behaviour Questionnaire (RSBQ) for clinical and research purposes.
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Measurement of Sedentary Behaviors or "downtime" in Rett SyndromeThis study aimed to validate measures of sedentary time in individuals with Rett syndrome.
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Community participation for girls and women living with Rett syndromeThis paper aimed to describe the relationships between level of impairment and participation in community activities for girls and women with Rett syndrome.
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Linking MECP2 and pain sensitivity: the example of Rett syndromeThis study investigated the nature and prevalence of atypical pain responses in Rett syndrome and their relationships with specific MECP2 mutations.
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Rett syndrome in Australia: a review of the epidemiologyTo examine the prevalence, cumulative incidence, and survival in an Australian cohort with Rett syndrome (RTT).
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Correlation between clinical severity in patients with Rett syndromeRett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder that is usually associated with mutations in the MECP2 gene.