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Showing results for "autism"
Research
Altered attainment of developmental milestones influences the age of diagnosis of rett syndromeThis study describes the attainment of gross developmental milestones and regression, and assesses the relationships between genotype and age at diagnosis.
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Atypical presentations and specific genotypes are associated with a delay in diagnosis in females with Rett syndromeThere is often delay between onset of Rett syndrome symptoms and its diagnosis, possibly related to symptom presentation or socio-demographic factors.
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Implementing Telehealth support to increase physical activity in girls and women with Rett syndromeHelen Jenny Leonard Downs MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Head, Child Disability +61 419 956 946 08 6319 1763
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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.
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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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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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Updating the profile of C-terminal MECP2 deletions in Rett syndromeThis study aimed to compare the phenotype of Rett syndrome cases with C-terminal deletions to that of cases with different MECP2 mutations
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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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Functioning and post-school transition outcomes for young people with Down syndromeOur analysis shows that functioning in activities of daily living was related to post-school day occupation. Current health status and behaviour were found...
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To Feel Belonged: The Voices of Children and Youth with Disabilities on the Meaning of WellbeingThe aim of this paper was to describe the meaning of wellbeing for children and youth with disabilities from their perspective.