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        131-140 of 529 results for 'CDKL5''

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        Research

        Rett syndrome: Establishing a novel outcome measure for walking activity in an era of clinical trials for rare disorders

        Rett syndrome is a pervasive neurological disorder with impaired gait as one criterion. ...

        Research

        Valproate and risk of fracture in Rett syndrome

        This study investigated the relationships between fracture risk and commonly used AEDs in Rett syndrome. ...

        Research

        Early determinants of fractures in Rett syndrome

        The goals were to compare the fracture incidence in Rett syndrome with that in the general population and to investigate the impact of genotype, epilepsy,... ...

        Research

        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 ...

        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. ...

        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

        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. ...

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