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        97-108 of 493 results for 'CDKL5''

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        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

        Relationship between family quality of life and day occupations of young people with Down syndrome

        This study aimed to explore relationships between family quality of life, day occupations and activities of daily living of young persons with Down syndrome. ...

        Research

        Gross Motor Profile in Rett Syndrome as Determined by Video Analysis

        This study used video supplemented by parent report data to describe the gross motor profile in females with Rett syndrome (n=99) and to investigate... ...

        Research

        Associations Between Hyperphagia, Symptoms of Sleep Breathing Disorder, Behaviour Difficulties and Caregiver Well-Being in Prader-Willi Syndrome: A Preliminary Study

        Prader-Willi syndrome (PWS) is a rare genetic disorder characterised by neurodevelopmental delays, hyperphagia, difficulties with social communication and challenging behaviours. Individuals require intensive supervision from caregivers which may negatively affect caregiver quality of life. This study used data collected in the Australasian PWS Registry to evaluate associations between child behaviours and caregiver mental well-being. ...

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        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

        Daytime sleepiness and emotional and behavioral disturbances in Prader-Willi syndrome

        Individuals with Prader-Willi syndrome (PWS) often have excessive daytime sleepiness and emotional/behavioral disturbances. The objective of this study was to examine whether daytime sleepiness was associated with these emotional/behavioral problems, independent of nighttime sleep-disordered breathing, or the duration of sleep. ...

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        Use of equipment and respite services and caregiver health among Australian families living with Rett syndrome

        This study assessed factors that could influence equipment and respite services use among Australian families caring for a girl/woman with Rett syndrome and... ...

        Research

        Family satisfaction following spinal fusion in Rett syndrome

        We evaluated family satisfaction following spinal fusion in girls with Rett syndrome ...

        Research

        Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband

        Comprehensive genetic screening programs have led to the identification of pathogenic methyl-CpG-binding protein 2 (MECP2) mutations... ...

        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

        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

        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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