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Facilitators and Barriers of Participation in “Uptime” Activities in Girls and Women With Rett Syndrome: Perspectives From Parents and ProfessionalsThis study explored facilitators and barriers to "uptime" (non-sedentary) activities in Danish girls and women with Rett syndrome
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The misnomer of ‘high functioning autism’: Intelligence is an imprecise predictor of functional abilities at diagnosisWe argue that 'high functioning autism' is an inaccurate clinical descriptor when based solely on intelligence quotient demarcations
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Severity Assessment in CDKL5 Deficiency DisorderA severity assessment was rapidly developed with input from multiple stakeholders. Refinement through ongoing validation is required for future clinical trials.
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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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Conceptualizing a quality of life framework for girls with Rett syndrome using qualitative methodsExisting quality of life scales for children in the general population or with other disabilities did not capture the QOL of children with Rett syndrome
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Autonomic breathing abnormalities in Rett syndrome: caregiver perspectives in an international database studyOur aims were to characterize the abnormal breathing patterns and abdominal bloating, investigate the distribution of these by age and mutation type and examine their impact and management from a caregiver perspective.
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Comparing Parental Well-Being and Its Determinants Across Three Different Genetic Disorders Causing Intellectual DisabilityThis cross-sectional study examined parental well-being in caregivers of children with one of three genetic disorders associated with intellectual disability.
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Quality of Life and Psychosocial Well-Being in Youth With Neuromuscular Disorders Who Are Wheelchair Users: A Systematic ReviewTo investigate quality of life (QOL) and psychosocial well-being in youth with neuromuscular disorders (NMDs) who are wheelchair users.
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Seizure variables and their relationship to genotype and functional abilities in the CDKL5 disorderEpilepsy is pervasive but not mandatory for the CDKL5 disorder, and genotype and functional abilities were related to seizure frequency
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Propulsion strategy in the gait of primary school children; the effect of age and speedAnkle and hip power generation as a propulsion strategy during the late stance/early swing phases of walking and running in typically developing children