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Burden of illness in Rett syndrome: initial evaluation of a disorder-specific caregiver surveyRett syndrome (RTT) is a severe X-linked neurodevelopmental disorder associated with multiple neurologic impairments. Previous studies have shown challenges to the quality of life of individuals with RTT and their caregivers. However, instruments applied to quantify disease burden have not adequately captured the impact of these impairments on affected individuals and their families. Consequently, an international collaboration of stakeholders aimed at evaluating Burden of Illness in RTT was organized.
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Associations between genotype, phenotype and behaviours measured by the Rett syndrome behaviour questionnaire in Rett syndromeRett syndrome (RTT) is a rare neurodevelopmental disorder with developmental impairments, comorbidities, and abnormal behaviours such as hand stereotypies and emotional features. The Rett Syndrome Behaviour Questionnaire (RSBQ) was developed to describe the behavioural and emotional features of RTT.
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The Risk of Neurodevelopmental Disabilities in Children of Immigrant and Refugee Parents: Current Knowledge and Directions for Future ResearchWe investigated the literature from 2002 to 2016 describing the risk of ASD, intellectual disability and ADHD in children of refugee and immigrant backgrounds.
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Risk of Developmental Disorders in Children of Immigrant Mothers: A Population-Based Data Linkage EvaluationIncreased risk of autism spectrum disorder with intellectual disability and cerebral palsy with intellectual disability for mothers of some foreign-born groups
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Epidemiology of gastrostomy insertion for children and adolescents with intellectual disabilityGastrostomy is increasingly used in multiple neurological conditions associated with intellectual disability, with no apparent accessibility barriers
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Risk of Mortality into Adulthood According to Gestational Age at BirthTo quantify the independent risks of neonatal, postneonatal, 1 to 5 and 6 to 30 year mortality by gestational age and investigate changes in survival over time.
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Powered standing wheelchairs promote independence, health and community involvement in adolescents with Duchenne muscular dystrophyThis study used qualitative methods to explore how adolescents with Duchenne muscular dystrophy used a powered wheelchair standing device in their daily lives
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Impact of biobanks on research outcomes in rare diseases: a systematic reviewThis review made the important observation that registries with biobanks had the function of both stand-alone registries and stand-alone rare disease biobanks
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Investigating falls in adults with intellectual disability living in community settings and their experiences of post-fall care servicesThis study will determine the rate of falls among older adults with ID living in community based settings, which will assist to identify the extent of this problem
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Mental wellbeing in non-ambulant youth with neuromuscular disorders: What makes the difference?Mental wellbeing was independently associated with academic achievement and perceived family support but not with physical health variables