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        157-168 of 390 results for 'rett syndrome'

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        “I have a good life”: the meaning of well-being from the perspective of young adults with Down syndrome

        The purposes of this study were to explore what makes for a "good life" from the perspective of young adults with Down syndrome and to identify the barriers... ...

        Research

        International CDKL5 Disorder Database

        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

        Description of Total Population Hospital Admissions for Treacher Collins Syndrome in Australia

        To describe patterns and demographic characteristics of total-population hospital admissions with a diagnosis of Treacher Collins syndrome (TCS) in Australia. ...

        Research

        Initial Validation and Reliability of the CDKL5 Deficiency Disorder Hand Function Scale (CDD-Hand)

        Pathogenic variants in the CDKL5 gene result in CDKL5 deficiency disorder (CDD), which is characterized by early-onset epilepsy, severe developmental delay, and often, cortical visual impairment. Validated clinical outcome measures are needed for future clinical trials to be successful. This study aimed to adapt the Rett Syndrome Hand Function Scale for CDKL5 deficiency disorder and evaluate its feasibility, acceptability, content validity, and reliability. ...

        Research

        Young people with intellectual disability transitioning to adulthood: Do behaviour trajectories differ in those with and without down syndrome

        Changes in emotional and behavioural problems for young people with intellectual disability with and without Down syndrome as they transition into adulthood ...

        Research

        Determinants of sleep problems in children with intellectual disability

        Children with intellectual disabilities are more likely to experience sleep disorders of insomnia, excessive daytime sleepiness and sleep breathing disorders than typically developing children. The present study examined risk factors for these sleep disorders in 447 children (aged 5-18 years), diagnosed with an intellectual disability and comorbid autism spectrum disorder, cerebral palsy, Down syndrome or Rett syndrome. Primary caregivers reported on their child's sleep using the Sleep Disturbance Scale for Children (SDSC), as well as medical comorbidities and functional abilities. ...

        Research

        Parent Carer Quality of Life and Night-Time Attendance in Non-Ambulant Youth with Neuromuscular Disorders

        To describe and explore carer quality of life and night-time attendance to their child in parents of non-ambulant youth with Neuromuscular Disorders. A cross-sectional population-based, comprehensive survey including the Adult Carer questionnaire, measures of social context and youths' physical status. Associations between carer-QoL or frequency of parents' night-time attendance with independent variables were explored using linear and logistic regression models, respectively. ...

        Research

        Mental wellbeing in non-ambulant youth with neuromuscular disorders: What makes the difference?

        Mental wellbeing was independently associated with academic achievement and perceived family support but not with physical health variables ...

        Research

        Women Diagnosed with Ovarian Cancer: Patient and Carer Experiences and Perspectives

        By directly engaging with women diagnosed with ovarian cancer, this study aimed to explore and identify their view of the health symptoms and outcomes that matter most to them as they traverse their disease pathway. ...

        Research

        The impact of having a sibling with an intellectual disability:parental perspectives in two disorders

        This study describes the impact of having a sibling with Down syndrome or Rett syndrome using a questionnaire completed by parents. ...

        Research

        Establishing a national platform for the provision of evidence based practice in Prader-Willi syndrome

        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

        Development of an International Database for a Rare Genetic Disorder: The MECP2 Duplication Database (MDBase)

        The natural history of MECP2 duplication syndrome (MDS), a rare X-linked neurodevelopmental disorder with an estimated birth prevalence of 1/150,000 live births, is poorly understood due to a lack of clinical data collected for research. Such information is critical to the understanding of disease progression, therapeutic endpoints and outcome measures for clinical trials, as well as the development of therapies and orphan products. ...

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