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        251-260 of 510 results for 'rett syndrome'

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        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

        Brief Report: Burden of Care in Mothers of Children with Autism Spectrum Disorder or Intellectual Disability

        Mothers of children with autism spectrum disorder or intellectual disability have higher rates of treatment episodes for psychiatric disorders ...

        Research

        Medical Comorbidities in MECP2 Duplication Syndrome: Results from the International MECP2 Duplication Database

        Since the discovery of MECP2 duplication syndrome (MDS) in 1999, efforts to characterise this disorder have been limited by a lack of large datasets, with small case series often favouring the reporting of certain conditions over others. This study is the largest to date, featuring 134 males and 20 females, ascertained from the international MECP2 Duplication Database (MDBase). ...

        Research

        Requirements for improving health and well-being of children with Prader-Willi syndrome and their families

        Prader-Willi syndrome (PWS) is a rare genetic condition with multi-system involvement ...

        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 ...

        Research

        How Families Manage the Complex Medical Needs of Their Children with MECP2 Duplication Syndrome

        MECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder resulting from the duplication of the methyl-CpG-binding protein 2 (MECP2) gene. The clinical features of MDS include severe intellectual disability, global developmental delay, seizures, recurrent respiratory infections, and gastrointestinal problems. The aim of this qualitative study was to explore how the parents of children with MDS manage their child's seizures, recurrent respiratory infections, and gastrointestinal symptoms, and the impact on them as parents. ...

        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

        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

        A framework for understanding quality of life domains in individuals with the CDKL5 deficiency disorder

        This study aimed to identify the quality of life domains important for individuals with CDKL5 deficiency disorder ...

        Research

        Severity Assessment in CDKL5 Deficiency Disorder

        A severity assessment was rapidly developed with input from multiple stakeholders. Refinement through ongoing validation is required for future clinical trials. ...

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