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Research
Seizure variables and their relationship to genotype and functional abilities in the CDKL5 disorderEpilepsy is pervasive but not mandatory for the CDKL5 disorder, and genotype and functional abilities were related to seizure frequency
Research
Down syndrome or Rett syndrome in the family: Parental reflections on sibling experienceSiblings of children with intellectual disability have unique family experiences, varying by type of disability.
Research
Conceptualizing a quality of life framework for girls with Rett syndrome using qualitative methodsExisting quality of life scales for children in the general population or with other disabilities did not capture the QOL of children with Rett syndrome
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Communication of individuals with CDKL5 deficiency disorder as observed by caregivers: A descriptive qualitative studyCDKL5 deficiency disorder (CDD) is a genetically caused developmental epileptic encephalopathy that causes severe communication impairments. Communication of individuals with CDD is not well understood in the literature and currently available measures are not well validated in this population. Accurate and sensitive measurement of the communication of individuals with CDD is important for understanding this condition, clinical practice, and upcoming interventional trials.
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Parent-reported outcome measures evaluating communication in individuals with rare neurodevelopmental disorders: A systematic reviewCommunication impairments are a leading concern for parent caregivers of individuals with rare neurodevelopmental disorders. Clinical trials of disease modifying therapies require valid and responsive outcome measures that are relevant to individuals with RNDDs. Identifying and evaluating current psychometric properties for communication measures is a critical step towards the selection and use of appropriate instruments.
News & Events
Children with disabilities 3 times more likely to be maltreated but risk varies by disability typeA new study has found children with disabilities are 3 times more likely to be maltreated compared to other children but that risk varies by type of disability.
Research
Multi-site validation of a suite of clinical outcome measures for clinical trial readiness in the CDKL5 Deficiency DisorderHelen Jenny Peter Leonard Downs Jacoby HM JA PJ MBChB MPH BApplSci (physio) MSc PhD BA (Hons) MSc Principal Research Fellow Program Head,
Research
The natural history of the MECP2 Duplication disorder: Australian surveillance and plans for development of an international registerHelen Jenny Leonard Downs HM JA MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Program Head, Development and Disability +61 419 956
The Sibling Project focuses on children, adolescents and emerging adults who have a sibling with a disability, investigating their mental health, relationships and quality of life.
Following on from the CHARGE Australasia 2024 Conference, we would like to invite: Siblings aged 18+ who have a brother or sister with CHARGE