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Showing results for "autism"
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The development, content and response process validation of a caregiver-reported severity measure for CDKL5 deficiency disorderCDKL5 Deficiency Disorder (CDD) is a severe X-linked developmental and epileptic encephalopathy. Existing developmental outcome measures have floor effects and cannot capture incremental changes in symptoms. We modified the caregiver portion of a CDD clinical severity assessment (CCSA) and assessed content and response-process validity.
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Does gastrostomy improve the lives of children with severe disability and their families?Approximately 13,000 children in Australia live with moderate to severe intellectual disability.
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Towards evidence based care for Rett syndrome: a research model to inform management of rare disordersHelen Jenny Leonard Downs MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Head, Child Disability +61 419 956 946 08 6319 1763
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Psychometric evaluation of clinician- and caregiver-reported clinical severity assessments for individuals with CDKL5 deficiency disorderThe CDKL5 Clinical Severity Assessment is a comprehensive, content-validated measurement tool capturing the diverse challenges of cyclin-dependent kinase-like 5 deficiency disorder, a genetically caused developmental epileptic encephalopathy. The CCSA is divided into clinician-reported and caregiver-reported assessments. The aim of this study was to evaluate the factor structure of these measures through confirmatory factor analysis and evaluate their validity and reliability.
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The natural history of the MECP2 Duplication disorder: Australian surveillance and plans for development of an international registerHelen Jenny Leonard Downs MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Head, Child Disability +61 419 956 946 08 6319 1763
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Establishing a national platform for the provision of evidence based practice in Prader-Willi syndromeHelen Jenny Leonard Downs MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Head, Child Disability +61 419 956 946 08 6319 1763
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Community participation for girls and women living with Rett syndromeThis paper aimed to describe the relationships between level of impairment and participation in community activities for girls and women with Rett syndrome.
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Measuring the Burden of Epilepsy Hospitalizations in CDKL5 Deficiency DisorderInformation on the hospital service use among individuals with CDKL5 Deficiency Disorder, an ultrarare developmental epileptic encephalopathy, is limited, evidence of which could assist with service planning. Therefore, using baseline and longitudinal data on 379 genetically verified individuals in the International CDKL5 Disorder Database, we aimed to investigate rates of seizure-related and other hospitalizations and associated length of stay in this cohort.
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Associations between genotype, phenotype and behaviours measured by the Rett syndrome behaviour questionnaire in Rett syndromeRett syndrome (RTT) is a rare neurodevelopmental disorder with developmental impairments, comorbidities, and abnormal behaviours such as hand stereotypies and emotional features. The Rett Syndrome Behaviour Questionnaire (RSBQ) was developed to describe the behavioural and emotional features of RTT.
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Growth patterns in individuals with CDKL5 deficiency disorderAim: To compare growth in individuals with cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder with population norms and to investigate the effect of gastrostomy on growth.