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        205-216 of 492 results for 'CDKL5'

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        Environmental enrichment intervention for Rett syndrome: an individually randomised stepped wedge trial

        Helen Jenny Leonard Downs HM JA MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Program Head, Development and Disability +61 419 956 946 08 6319 1763 helen.leonard@telethonkids.org.au Jenny.Downs@telethonkids.org.au Principal Research ...

        Research

        Hospital admissions in children with developmental disabilities from ethnic minority backgrounds

        Children with CP and intellectual disability, particularly from minority backgrounds, were at higher risk of being admitted to hospital after the first year of life ...

        Research

        Parent-reported health-related quality of life of children with Down syndrome: A descriptive study

        To describe health-related quality of life of Australian children and adolescents with Down syndrome and compare it with norm-referenced data. ...

        Research

        Surgical fusion of early onset severe scoliosis increases survival in Rett syndrome: A cohort study

        We investigated the impact of spinal fusion on survival and risk of severe lower respiratory tract infection in Rett syndrome. ...

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        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 PhD MAPP BA (Hons) MSc Angela Wright Bennett Professor of Autism Research at Telethon Kids and ...

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        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

        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

        How Well Does the EQ-5D-Y-5L Describe Children With Intellectual Disability?: “There's a Lot More to My Child Than That She Can't Wash or Dress Herself.”

        The EQ-5D-5L is a generic health utility instrument for measuring health-related quality of life (HRQoL), with self-report and proxy report versions for children (EQ-5D-Y-5L). Children with intellectual disability (ID) are a heterogeneous population whose impairments and comorbidities place them at risk of poor HRQoL. This study aimed to describe the content validity and suitability for children with ID of a proxy report version of the EQ-5D-Y-5L as seen by their caregivers. ...

        Research

        Sleep-disordered breathing in Australian children with Prader-Willi syndrome following initiation of growth hormone therapy

        In children with Prader-Willi syndrome (PWS), growth hormone (GH) improves height and body composition; however, may be associated with worsening sleep-disordered breathing (SDB). Some studies have reported less SDB after GH initiation, but follow-up with polysomnography is still advised in most clinical guidelines. ...

        Research

        Early mortality and primary causes of death in mothers of children with intellectual disability or Autism spectrum disorder

        Mothers of children with intellectual disability or autism spectrum disorder (ASD) have poorer health than other mothers. ...

        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 ...

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