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Showing results for "autism"
Research
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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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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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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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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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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Research
Adapting a measure of gross motor skills for individuals with CDKL5 deficiency disorder: A psychometric studyValidated measures capable of demonstrating meaningful interventional change in the CDKL5 deficiency disorder (CDD) are lacking. The study objective was to modify the Rett Syndrome Gross Motor Scale (RSGMS) and evaluate its psychometric properties for individuals with CDD.
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Impact of Gastrostomy Placement on Nutritional Status, Physical Health, and Parental Well-Being of Females with Rett SyndromeGastrostomy placement was associated with improvement in BMI in females with Rett syndrome, but its long-term impact on individuals and their families is unclear