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        133-144 of 492 results for 'CDKL5'

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        Using directed-content analysis to identify a framework for understanding quality of life in adults with Rett syndrome

        Rett syndrome (RTT) is a rare neurodevelopmental disorder mainly affecting females and is caused by a mutation in the MECP2 gene. Recent research identified the domains of quality of life (QOL) important for children with RTT but there has been no investigation of domains important for adults. This qualitative study explored QOL in adults with RTT and compared domains with those previously identified for children. ...

        Research

        Oral health education and promotion in special needs children: Systematic review and meta-analysis

        To review the effectiveness of oral health education and oral health promotion interventions for children and adolescents with intellectual and developmental disabilities (IDD), in ensuring optimal gingival health, caries experience and oral health-related quality of life, compared to no interventions or alternative interventions. ...

        Research

        Measurement of Sedentary Behaviors or "downtime" in Rett Syndrome

        This study aimed to validate measures of sedentary time in individuals with Rett syndrome. ...

        Research

        Gastrointestinal dysmotility in rett syndrome

        Through evidence review and the consensus of an expert panel, we developed recommendations for the clinical management of gastroesophageal reflux disease,... ...

        Research

        Change in Gross Motor Abilities of Girls and Women With Rett Syndrome Over a 3- to 4-Year Period

        We describe change in gross motor function over 3 to 4 years for 70 subjects participating in the Australian Rett Syndrome Database ...

        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

        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

        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

        Admissions in Children with Down Syndrome: Experience of a Population-Based Cohort Followed from Birth

        This study describes patterns of hospitalisations for children and young people with Down syndrome in Western Australia. ...

        Research

        The experiences of mothers of young adults with an intellectual disability transitioning from secondary school to adult life

        The transition from school to adulthood for young adults with an intellectual disability involves movement from a generally secure and supported school... ...

        Research

        What does the nature of the MECP2 mutation tell us about parental origin and recurrence risk in Rett syndrome?

        The MECP2 mutations occurring in the severe neurological disorder Rett syndrome are predominantly de novo, with rare familial cases. The aims of this study... ...

        Research

        Health conditions and their impact among adolescents and young adults with down syndrome

        The aim of this study was to examine the prevalence of medical conditions and use of health services among young adults with Down syndrome and describe the... ...

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