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The trajectories of sleep disturbances in Rett syndromeThis paper demonstrated that the evolution of sleep problems differed between subgroups of girls and women with Rett syndrome, in part explained by age and...
Research
Pubertal trajectory in females with Rett syndrome: A population-based studyThe aim of this study was to describe pubertal development in a population-based cohort of females with Rett syndrome.
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Longitudinal bone mineral content and density in Rett syndrome and their contributing factorsBone mass and density are low in females with Rett syndrome.
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Experience of gastrostomy using a quality care framework: The example of rett syndromeGastrostomy assisted the management of feeding difficulties and poor weight gain, and was acceptable to families
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Autism and intellectual disability are differentially related to sociodemographic background at birthWe used population data on Western Australian singletons born from 1984 to 1999 (n = 398,353) to examine the sociodemographic characteristics of children...
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Measuring use and cost of health sector and related care in a population of girls and young women with Rett syndromeThis study measured use and cost of health sector and related services in Rett syndrome and effects of socio-demographic, clinical severity and genetic factors
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Use of the ketogenic diet to manage refractory epilepsy in CDKL5 disorderIn view of its side effect profile, ketogenic diet (KD) administration should be supervised by a pediatric neurologist and specialist dietician.
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Clinical guidelines for management of bone health in rett syndrome based on expert consensus and available evidenceA clinically significant history of fracture in combination with low bone densitometry findings is necessary for a diagnosis of osteoporosis in Rett Syndrome
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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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Expanding the clinical picture of the MECP2 Duplication syndromePerinatal characteristics, early childhood development and medical co-morbidities in MECP2 Duplication syndrome