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This systematic review aimed to identify the most important social, environmental, biological, and/or genetic risk factors for intellectual disability.
This study investigated the influence of factors at birth and in infancy on the likelihood of achieving major motor milestones in CDKL5 Deficiency Disorder (CDD). Data on 350 individuals with a pathogenic CDKL5 variant was sourced from the International CDKL5 Disorder Database.
The natural history of MECP2 duplication syndrome (MDS), a rare X-linked neurodevelopmental disorder with an estimated birth prevalence of 1/150,000 live births, is poorly understood due to a lack of clinical data collected for research. Such information is critical to the understanding of disease progression, therapeutic endpoints and outcome measures for clinical trials, as well as the development of therapies and orphan products.
Preterm birth is a global public health problem with a significant burden on the individuals affected. The study aimed to extend current research on preterm birth prognostic model development by developing and internally validating models using machine learning classification algorithms and population-based routinely collected data in Western Australia.
Having 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.
Pathogenic variants in the CDKL5 gene result in CDKL5 deficiency disorder (CDD), which is characterized by early-onset epilepsy, severe developmental delay, and often, cortical visual impairment. Validated clinical outcome measures are needed for future clinical trials to be successful. This study aimed to adapt the Rett Syndrome Hand Function Scale for CDKL5 deficiency disorder and evaluate its feasibility, acceptability, content validity, and reliability.
To evaluate the effects of a physical activity programme on sedentary behaviour and physical activity in ambulant individuals with Rett syndrome.
Alcohol related harms disproportionately affect Aboriginal people in Australia. Motives to drink have been identified as the most proximal factor to alcohol consumption.The aim of this study is to assess the validity of a culturally modified Drinking Motives Questionnaire-Revised (DMQ-R) (Cooper, 1994) with Aboriginal participants. The study was cross sectional, utilising data collected via face-to-face surveys with a sample of adult Aboriginal participants.
To 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.
This population-based cohort study investigated dental procedures in the hospital setting in Western Australian children with or without intellectual disability (ID) and/or autism spectrum disorder (ASD) aged up to 18 years.