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Research
The Neurological Hand Deformity Classification: Construct validity, test-retest, and inter-rater reliabilityThe Neurological Hand Deformity Classification (NHDC) is an impairment-based tool that classifies hand deformity into one of two ordinal scales: flexion or extension deformities. Classification is made from live observation or from recorded video footage. Differentiation between the levels is determined by wrist position and wrist and finger movement.
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Kindy Moves: a protocol for establishing the feasibility of an activity-based intervention on goal attainment and motor capacity delivered within an interdisciplinary framework for preschool aged children with cerebral palsyPreschool aged children with cerebral palsy (CP) and like conditions are at risk of performing below their peers in key skill areas of school readiness. Kindy Moves was developed to support school readiness in preschool aged children with CP and like conditions that are dependent on physical assistance and equipment throughout the day. The primary aims are to determine the feasibility of motor-based interventions that are functional and goal directed, adequately dosed and embedded into a play environment with interdisciplinary support to optimise goal-driven outcomes.
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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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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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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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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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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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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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The Feasibility of Personalized Endpoints in Assessing Treatment Outcomes for Rare Diseases: A Pilot Study of Goal Attainment Scaling in SCN2A-AssociatedFor individuals living with rare neurodevelopmental disorders, particularly those who are at the most severe end of the spectrum, standardized outcome measures may lack the sensitivity to capture small but meaningful changes.
News & Events
The Kids researchers who helped identify rare disorder now poised to help the hunt for treatmentTwo The Kids Research Institute Australia researchers recognised for their role in building a global database for CDKL5 deficiency disorder are now helping to set the scene for clinical trials of much-needed potential treatments.