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Orthopaedic issues in Rett SyndromeThis chapter reviews the prevalence, characteristics, and clinical management of orthopedic problems in RTT.
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Improving clinical trial readiness to accelerate development of new therapeutics for Rett syndromeRett syndrome is associated with severe functional impairments and many comorbidities, each in urgent need of treatments. Mutations in the MECP2 gene were identified as causing Rett syndrome in 1999. Over the past 20 years there has been an abundance of preclinical research with some studies leading to human clinical trials.
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Determinants of quality of life in Rett syndrome: New findings on associations with genotypeRett syndrome is a genetically caused neurodevelopmental disorder associated with functional deficits and comorbidities. This study investigated relationships between genotype, functional abilities and comorbidities and quality of life in Rett syndrome.
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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...
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Real-world benefits and tolerability of trofinetide for the treatment of Rett syndrome: The LOTUS studyAim: To describe the real-world effects of trofinetide in individuals with Rett syndrome (RTT) using the 18-month follow-up analysis of the LOTUS study.
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Can telehealth increase physical activity in individuals with Rett syndrome? A multicentre randomized controlled trialTo evaluate the effects of a physical activity programme on sedentary behaviour and physical activity in ambulant individuals with Rett syndrome.
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Down syndrome or Rett syndrome in the family: Parental reflections on sibling experienceSiblings of children with intellectual disability have unique family experiences, varying by type of disability.
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Access to Oral Healthcare in Individuals With Rett Syndrome: A Qualitative Study of Parent PerspectivesIntellectual and developmental disabilities (IDD) are varied in their nature and presentation. Barriers to oral healthcare are reported in studies of general populations with IDD but these may not reflect the barriers experienced by individuals with rare disorders such as Rett syndrome.
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.
Regression, including the loss of previously learned skills, such as hand function and communication skills, is one of the most suggestive features of Rett synd