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Research
Relationship between family quality of life and day occupations of young people with Down syndromeThis study aimed to explore relationships between family quality of life, day occupations and activities of daily living of young persons with Down syndrome.
Research
Deletions in the CDKL5 5 untranslated region lead to CDKL5 deficiency disorderPathogenic variants in the cyclin-dependent kinase-like 5 (CDKL5) gene are associated with CDKL5 deficiency disorder (CDD), a severe X-linked developmental and epileptic encephalopathy.
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Process evaluation of a randomised controlled trial intervention designed to improve rehabilitation services for Aboriginal Australians after brain injury: the Healing Right Way TrialHealing Right Way (HRW) aimed to improve health outcomes for Aboriginal Australians with stroke or traumatic brain injury by facilitating system-level access to culturally secure rehabilitation services. Using a stepped-wedge randomised controlled trial design, a two-pronged intervention was introduced in four rural and four urban hospitals, comprising cultural security training for staff and training/employment of Aboriginal Brain Injury Coordinators to support Aboriginal patients for 6-months post-injury.
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Real-world benefits and tolerability of trofinetide for the treatment of Rett syndrome: The LOTUS studyAim: To describe the real-world effects of trofinetide in individuals with Rett syndrome (RTT) using the 18-month follow-up analysis of the LOTUS study.
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Evaluating the Introduction of Humidified High-Flow Nasal Cannula Therapy Into an Australian Aeromedical Service Within a Paediatric Population: A Retrospective Cohort StudyHumidified high flow (HHF) oxygen is increasingly used to treat acute respiratory illnesses in children; however, use during aeromedical transfer is not well described. This was a retrospective cohort study. Children who were transferred from rural locations and were initiated on HHF prior to transfer between 1 January 2015 and 31 December 2018 were identified from the Royal Flying Doctors Service database. Clinical variables prior to transfer, during flight and after transfer were collected from medical records and flight records.
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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.
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Cohort profile: The WAACHS Linked Data StudyDespite the volume of accumulating knowledge from prospective Aboriginal cohort studies, longitudinal data describing developmental trajectories in health and well-being is limited.
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Access to Oral Healthcare in Individuals With Rett Syndrome: A Qualitative Study of Parent PerspectivesIntellectual and developmental disabilities (IDD) are varied in their nature and presentation. Barriers to oral healthcare are reported in studies of general populations with IDD but these may not reflect the barriers experienced by individuals with rare disorders such as Rett syndrome.
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The misnomer of ‘high functioning autism’: Intelligence is an imprecise predictor of functional abilities at diagnosisWe argue that 'high functioning autism' is an inaccurate clinical descriptor when based solely on intelligence quotient demarcations
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Severity Assessment in CDKL5 Deficiency DisorderA severity assessment was rapidly developed with input from multiple stakeholders. Refinement through ongoing validation is required for future clinical trials.