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The common BDNF polymorphism may be a modifier of disease severity in Rett syndromeRett syndrome (RTT) is caused by mutations in the transcriptional repressor methyl CpG-binding protein 2 (MECP2).
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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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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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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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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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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
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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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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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Changes in caesarean delivery rates in Western Australia from 1995 to 2010 by gestational age at birthThe objective of this paper was to measure changes in caesarean delivery rates for primiparous women in Western Australia during 1995–2010 stratified by...