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Showing results for "autism"
Research
The impact of having a sibling with an intellectual disability:parental perspectives in two disordersThis study describes the impact of having a sibling with Down syndrome or Rett syndrome using a questionnaire completed by parents.
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Physical and mental health of mothers caring for a child with Rett syndromeThis study compared the behavior profile of cases in the Australian Rett Syndrome Database (ARSD) with those in a British study using the Rett Syndrome...
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Maternal life events during pregnancy and offspring language ability in middle childhoodThere is accumulating evidence for a link between maternal stress during pregnancy and later behavioural and emotional problems in children.
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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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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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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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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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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