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        251-260 of 528 results for 'CDKL5'

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        Research

        Characterising quality of life and its determinants for children with intellectual disability and their families

        Andrew Helen Jenny Nada Peter Whitehouse Watch and listen to Andrew Leonard Downs Murphy Jacoby AJ HM JA NM PJ PhD MBChB MPH BApplSci (physio) MSc ...

        Research

        A validation study of a modified Bouchard activity record that extends the concept of 'uptime' to Rett syndrome

        The aim of this study was to investigate the validity of using a Bouchard activity record (BAR) in individuals with Rett syndrome to measure physical... ...

        Research

        Functioning, participation, and quality of life in children with intellectual disability: an observational study

        To investigate associations between functioning, community participation, and quality of life (QoL) and identify whether participation mediates the effects of functioning on QoL. ...

        Research

        Comorbidities and quality of life in children with intellectual disability

        Many children with intellectual disability live with medical comorbidities. This study examined the impacts of comorbidities on quality of life (QOL) of children with intellectual disabilities and whether impacts varied with caregiver perceptions that medical needs had been met. ...

        Research

        Impact of Gastrostomy Placement on Nutritional Status, Physical Health, and Parental Well-Being of Females with Rett Syndrome

        Gastrostomy placement was associated with improvement in BMI in females with Rett syndrome, but its long-term impact on individuals and their families is unclear ...

        Research

        Qualitative Analysis of Parental Observations on Quality of Life in Australian Children with Down Syndrome

        We investigated parental observations to identify QOL domains in children with Down Syndrome and determined whether domains differed between children and teens. ...

        Research

        Psychometric properties of the Quality of Life Inventory-Disability (QI-Disability) measure

        Initial evaluation suggests that QI-Disability is a reliable and valid measure of quality of life across the spectrum of intellectual disability ...

        Research

        The common BDNF polymorphism may be a modifier of disease severity in Rett syndrome

        Rett syndrome (RTT) is caused by mutations in the transcriptional repressor methyl CpG-binding protein 2 (MECP2). ...

        Research

        "The problem with running"-Comparing the propulsion strategy of children with Developmental Coordination Disorder and typically developing children

        Children with Developmental Coordination Disorder (DCD) often have difficulties running. ...

        Research

        Patient-advocate-led global coalition adapting fit-for-purpose outcomes measures to assure meaningful inclusion of DEEs in clinical trials

        Existing clinical tools that measure non-seizure outcomes lack the range and granularity needed to capture skills in developmental and epileptic encephalopathy (DEE)-affected individuals who also fall in the severe to profound range of intellectual disability. This effectively excludes those with severe impairments from clinical trials, impeding the ability of sponsors to evaluate disease-modifying therapies. ...

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