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Showing results for "autism"
Rett syndrome is a rare but serious neurological disorder that affects about 1 in 9,000 girls. Even more rarely, boys may be affected.
Research
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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The incidence, prevalence and clinical features of MECP2 duplication syndrome in Australian childrenMECP2 duplication syndrome is a rare but important diagnosis in children because of the burden of respiratory illness and recurrence risk
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The Lived Experience of Parents’ Receiving the Diagnosis of CDKL5 Deficiency Disorder for Their ChildCDKL5 deficiency disorder (CDD), a severe developmental and epileptic encephalopathy, is being diagnosed earlier with improved access to genetic testing, but this may also have unanticipated impacts on parents’ experience receiving the diagnosis. This study explores the lived experience of parents receiving a diagnosis of CDD for their child using mixed methods.
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Development of an International Database for a Rare Genetic Disorder: The MECP2 Duplication Database (MDBase)The natural history of MECP2 duplication syndrome (MDS), a rare X-linked neurodevelopmental disorder with an estimated birth prevalence of 1/150,000 live births, is poorly understood due to a lack of clinical data collected for research. Such information is critical to the understanding of disease progression, therapeutic endpoints and outcome measures for clinical trials, as well as the development of therapies and orphan products.
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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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Determinants of sleep disturbances in Rett syndrome: Novel findings in relation to genotypePrevalence and determinants of sleep problems in Rett syndrome
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Sleep disturbances in Rett syndrome: Impact and management including use of sleep hygiene practicesAttention to sleep hygiene remains an important management strategy for sleep problems in Rett syndrome