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Showing results for "rett"
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Intellectual disability: Population-based estimates of the proportion attributable to maternal alcohol use disorder during pregnancyThe aim of this study was to examine the association between maternal alcohol use disorder and intellectual disability in children.
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Variation over time in medical conditions and health service utilization of children with Down syndromeVariation over time in medical conditions and health service utilization of children with Down syndrome.
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Psychometric validation of the quality of life Inventory − Disability (QI-Disability) among patients with Lennox-Gastaut syndrome and Dravet syndromeTo evaluate the psychometric properties of the Quality of Life Inventory -Disability (QI-Disability) for individuals with Dravet syndrome (DS) or Lennox-Gastaut syndrome (LGS), two rare developmental and epileptic encephalopathy conditions.
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Effects of ganaxolone on non-seizure outcomes in CDKL5 Deficiency Disorder: Double-blind placebo-controlled randomized trialCDKL5 deficiency disorder (CDD) is a rare developmental and epileptic encephalopathy. Ganaxolone, a neuroactive steroid, reduces the frequency of major motor seizures in children with CDD. This analysis explored the effect of ganaxolone on non-seizure outcomes.
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"The problem with running"-Comparing the propulsion strategy of children with Developmental Coordination Disorder and typically developing childrenThis study compared strategies of propulsion and power generation at the ankle during late stance/early swing in both walking and running in children with...
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Parent-reported outcome measures evaluating communication in individuals with rare neurodevelopmental disorders: A systematic reviewCommunication impairments are a leading concern for parent caregivers of individuals with rare neurodevelopmental disorders. Clinical trials of disease modifying therapies require valid and responsive outcome measures that are relevant to individuals with RNDDs. Identifying and evaluating current psychometric properties for communication measures is a critical step towards the selection and use of appropriate instruments.
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Communication of individuals with CDKL5 deficiency disorder as observed by caregivers: A descriptive qualitative studyCDKL5 deficiency disorder (CDD) is a genetically caused developmental epileptic encephalopathy that causes severe communication impairments. Communication of individuals with CDD is not well understood in the literature and currently available measures are not well validated in this population. Accurate and sensitive measurement of the communication of individuals with CDD is important for understanding this condition, clinical practice, and upcoming interventional trials.
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Addressing challenges in gaining informed consent for a research study investigating falls in people with intellectual disabilityThis study describes how an informed consent process was developed for people with intellectual disability and how it is working in a current study
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Risk of stillbirth, preterm delivery, and fetal growth restriction following exposure in a previous birth: Systematic review and meta-analysisNonrecurrent risk of stillbirth, Preterm birth, and small for gestational age after exposure to one or more of these complications in a previous pregnancy
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Twenty-Five Year Survival of Children with Intellectual Disability in Western AustraliaTo investigate survival up to early adulthood for children with intellectual disability and compare their risk of mortality with that of children without intellectual disability.