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Research
Recurrence Risk of Autism in Siblings and Cousins: A Multinational, Population-Based StudyThe present estimates of relative recurrence risks for autism spectrum disorder and childhood autism will assist clinicians and families in understanding autism risk
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Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical ReviewClinical presentations and genetic variations in Cyclin-dependent kinase-like 5 deficiency disorder based on a systematic literature review and experience
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Incidence and associated risk factors for falls in adults with intellectual disabilityPeople with intellectual disability fall at a younger age compared with the broader community
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A Pilot Study Delivering Physiotherapy Support for Rett Syndrome Using a Telehealth Framework Suitable for COVID-19 LockdownRett syndrome (RTT) is a genetically caused neurodevelopmental disorder associated with severe disability. We assessed the feasibility of a telehealth program supporting gross motor skills in RTT. Five girls with RTT were assessed and a home-based exercise program developed in response to functional goals. Families then participated in monthly Skype sessions for 6 months, guided by a physiotherapist to monitor progress and adjust the program as necessary.
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There is variability in the attainment of developmental milestones in the CDKL5 disorderIndividuals with the CDKL5 disorder have been described as having severely impaired development.
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Parental perspectives on the communication abilities of their daughters with Rett syndromeHow females with Rett syndrome communicate in everyday life and the barriers and facilitators to successful communication
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A validation study of a modified Bouchard activity record that extends the concept of 'uptime' to Rett syndromeThe aim of this study was to investigate the validity of using a Bouchard activity record (BAR) in individuals with Rett syndrome to measure physical...
Research
Rett syndrome: Establishing a novel outcome measure for walking activity in an era of clinical trials for rare disordersRett syndrome is a pervasive neurological disorder with impaired gait as one criterion.
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Patterns of depressive symptoms and social relating behaviors differ over time from other behavioral domains for young people with Down syndromePeople with intellectual disabilities are at a higher risk for experiencing behavioral, emotional, and psychiatric problems in comparison with the general...
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Onset of maternal psychiatric disorders after the birth of a child with intellectual disability: A retrospective cohort studyMothers of a child with intellectual disability (ID) have more psychiatric disorders after the birth of their child than other mothers.