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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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Surfacing undiagnosed disease: consideration, counting and codingThe diagnostic odyssey for people living with rare diseases (PLWRD) is often prolonged for myriad reasons including an initial failure to consider rare disease and challenges to systemically and systematically identifying and tracking undiagnosed diseases across the diagnostic journey.
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Genotype and sleep independently predict mental health in Rett syndrome: An observational studyRett syndrome is a genetically caused neurodevelopmental disorder associated with severe impairments and complex comorbidities. This study examined predictors of anxiety and depression in Rett syndrome, including genotype.
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Risk and resilience factors impacting the mental health and wellbeing of siblings of individuals with neurodevelopmental conditions: A mixed methods systematic reviewThis pre-registered systematic review synthesised and evaluated the existing literature on self-reported mental health and wellbeing of siblings of individuals with neurodevelopmental conditions.
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Diagnostic services for developmental coordination disorder: Gaps and opportunities identified by parentsAffecting one in 20 children, Developmental Coordination Disorder (DCD) is a common neurodevelopmental disorder impacting a child's ability to learn motor skills. Despite its high prevalence, DCD is under-recognized and under-diagnosed, causing unnecessary frustration and stress for families who are seeking help for their child. This study aimed to understand how parents procure diagnostic services and their perspectives on needed supports and services to improve early identification and diagnosis of DCD.
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Chronic Pain in Young People with Cerebral Palsy: Activity Limitations and Coping StrategiesTo describe the effect of chronic pain on the activities of children and adolescents with cerebral palsy, to describe coping strategies, and to examine associations between effect of pain on activities, coping strategies, and level of pain.
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Improving the Journey Before, During and After Diagnosis of a Neurodevelopmental Condition: Suggestions from a Sample of Australian Consumers and ProfessionalsThe current study used a transdiagnostic approach to explore experiences of consumers and professionals on how the process of assessing and diagnosing neurodevelopmental conditions can be improved.
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Early mortality among aboriginal and non-Aboriginal women who had a preterm birth in Western Australia: A population-based cohort studyHaving a preterm (<37 weeks' gestation) birth may increase a woman's risk of early mortality. Aboriginal and Torres Strait Islander women have higher preterm birth and mortality rates compared with other Australian women.
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Patterns of depressive symptoms and social relating behaviors differ over time from other behavioral domains for young people with Down syndromePeople with intellectual disabilities are at a higher risk for experiencing behavioral, emotional, and psychiatric problems in comparison with the general...
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There is variability in the attainment of developmental milestones in the CDKL5 disorderIndividuals with the CDKL5 disorder have been described as having severely impaired development.