Browse study websites

Discover. Prevent. Cure.

Menu Fundraise Donate

    Recommended pages

      Do you mean

        253-264 of 493 results for 'CDKL5''

        Refine research

        Research

        The phenotype associated with a large deletion on MECP2

        Multiplex ligation-dependent Probe Amplification (MLPA) has become available for the detection of a large deletion on the MECP2 gene. ...

        Research

        The Brain Basis of Comorbidity in Neurodevelopmental Disorders

        This review discusses early brain development and the etiological factors that may give rise to atypical developmental trajectories, along with neuroimaging insights ...

        Research

        Psychometric Properties of the EQ-5D-Y-5L for Children With Intellectual Disability

        The EQ-5D-Y-5L is a generic preference-based measure of health-related quality of life for children. This study aimed to describe the distributional properties, test-retest reliability, and convergent validity of the EQ-5D-Y-5L in children with intellectual disability (ID).  ...

        Research

        Interobserver Agreement When Diagnosing Hypoventilation in Children With Neuromuscular Disorders

        Neuromuscular disorders can lead to nocturnal hypoventilation. Accurate diagnosis of hypoventilation is imperative to guide treatment decisions. This study determined interobserver agreement for a number of definitions of nocturnal hypoventilation in children and adolescents with neuromuscular disorders. ...

        Research

        Content validation of the Quality of Life Inventory—Disability

        Satisfactory content validity is reported, where ongoing consumer feedback shaped the dataset from which the final items were selected ...

        Research

        Hospitalizations from Birth to 28 Years in a Population Cohort of Individuals Born with Five Rare Craniofacial Anomalies in Western Australia

        To describe trends, age-specific patterns, and factors influencing hospitalizations for 5 rare craniofacial anomalies. ...

        Research

        Functioning and post-school transition outcomes for young people with Down syndrome

        Our analysis shows that functioning in activities of daily living was related to post-school day occupation. Current health status and behaviour were found... ...

        Research

        Effect of sitting posture on development of scoliosis in duchenne muscular dystrophy cases

        This study assessed the contribution of physical factors including lumbar posture to scoliosis in non-ambulatory youth with DMD in Nepal. ...

        Research

        Day occupation is associated with psychopathology for adolescents and young adults with Down syndrome

        In comparison to those young adults attending open employment from 2009 to 2011, those attending day recreation programs were reported to experience... ...

        Research

        Updating the profile of C-terminal MECP2 deletions in Rett syndrome

        This study aimed to compare the phenotype of Rett syndrome cases with C-terminal deletions to that of cases with different MECP2 mutations ...

        Research

        Data Linkage: Canadian and Australian Perspectives on a Valuable Methodology for Intellectual and Developmental Disability Research

        Building data linkage capabilities, and how linked databases can be used to identify persons with IDD and used for population-based research ...

        Research

        Factors influencing public perceptions of child neglect: A mixed methods study

        More than 1 in 5 children experience neglect, exposing them to several adverse consequences. Children with intellectual disability experience additional neglect related challenges. Public perceptions significantly influence the identification, intervention, and prevention of child neglect.  ...

        Page 22 of 42