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Septo-optic dysplasia and gastroschisis: trends in birth prevalence and association with maternal ageThis study aims to describe the risk factors and trends in birth prevalence of septo-optic dysplasia (SOD) and gastroschisis between 1980 and 2023. This descriptive, population-based study of SOD and gastroschisis used Western Australian Register of Developmental Anomalies data from 1980 to 2023. Birth prevalence was calculated using Midwives Notification System data for all births after 20 weeks gestation.
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Churchill Fellow will seek ways to better support young people with neurodisabilityThe Kids Research Institute Australia researcher Hayley Passmore will use a prestigious Churchill Fellowship to investigate better ways to support young people in detention who are affected by neurodisability.
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Validating the Communication and Symbolic Behavior Scales–Developmental Profile Infant–Toddler Checklist (CSBS–DP ITC) Beyond Infancy in the CDKL5 Deficiency DisorderCDKL5 deficiency disorder (CDD) results in early-onset epilepsy and lifelong cognitive and motor impairments. With no validated measure for communication in CDD, this study evaluated the psychometric properties of the Communication and Symbolic Behavior Scales-Developmental Profile Infant Toddler Checklist.
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ACTIVE STRIDES-CP: Protocol for a randomised trial of intensive rehabilitation (combined intensive gait and cycling training) for children with moderate-to-severe bilateral cerebral palsyFor children with cerebral palsy (CP), who are marginally ambulant, gross motor capacity peaks between 6 and 7 years of age with a subsequent clinical decline, impacting their ability to engage in physical activity. Active Strides-CP is a novel package of physiotherapy targeting body functions, activity and participation outcomes for children with bilateral CP. This study will compare Active Strides-CP to usual care in a multisite randomised waitlist-controlled trial.
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Association between disability status and dental attendance patterns in Australian children: A national surveyThis study investigated the dental attendance patterns of Australian children with and without disabilities using data from Growing up in Australia: The Longitudinal Study of Australian Children.
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Digenic Congenital Hypogonadotropic Hypogonadism Due to Heterozygous GNRH1 p.R31C and AMHR2 p.G445_L453del VariantsA 28-year-old man with congenital hypogonadotropic hypogonadism (CHH) was found to be heterozygous for the GNRH1 p.R31C mutation, reported in the literature as pathogenic and dominant. The same mutation was found in his son at birth, but the testing of the infant at 64 days confirmed the hormonal changes associated with minipuberty.
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Modelling quality of life in children with intellectual disability using regression treesTo identify factors associated with quality of life (QoL) in children with intellectual disability. We aimed to identify patterns of association not observable in previous hypothesis-driven regression modelling using the same data set from a cross-sectional observational study.
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Descriptive contents analysis of ParticiPAte CP: a participation-focused intervention to promote physical activity participation in children with cerebral palsyParticiPAte CP is a participation-focused therapy intervention that is effective to increase perceived performance of physical activity participation goals in children with cerebral palsy. We aimed to characterise the contents of ParticiPAte CP using validated behaviour change frameworks.
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Child protection involvement of children of mothers with intellectual disabilityChildren born to parents with intellectual disability (ID) have been shown as disproportionally represented in child protection services however with limited population-based research.
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Using Focussed Ethnography to Observe and Understand the Actions and Interactions of People With Prader-Willi Syndrome When They Exercise at a Community Gym: A ProtocolExercise for people with Prader-Willi syndrome (PWS) is important for their health and wellbeing and can provide opportunities for community participation. However, they may find it difficult to participate in some contexts, such as community gyms because social and environmental barriers in these settings may compound difficulties caused by physical impairments or intellectual disability.