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Research

Birk-Landau-Perez syndrome is a genetic disorder caused by biallelic pathogenic variants in SLC30A9 presenting with a complex movement disorder, developmental regression, oculomotor abnormalities, and renal impairment. It has previously been reported in 2 families. We describe the clinical phenotype of 8 further individuals from 4 unrelated families with SLC30A9-related disease.

Research

For 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.

Research

Achondroplasia is the most common form of skeletal dysplasia. In addition to altered growth, children and young people with achondroplasia may experience medical complications, develop and function differently to others and require psychosocial support. International, European and American consensus guidelines have been developed for the management of achondroplasia. The Australian focused guidelines presented here are designed to complement those existing guidelines.

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We investigate the construct validity, test re-test reliability, and responsiveness of the Wrist Position Sense Test (WPST) for children with hemiplegic cerebral palsy (CP).

Research

To systematically identify and evaluate the measurement properties of patient-reported outcome measures (PROMs) and observer-reported outcome measures (parent proxy report) of pain coping tools that have been used with children and young adults (aged 0–24 years) with a neurodevelopmental disability.

Research

Citation: Marpole R, Langdon K, Wilson A. Gastrostomy feeding in children with severe cerebral palsy in Western Australia. Acta Paediatr Int J

Research

Measuring exercise intensity for safety and to inform prescription in acute burn survivors, is challenging. This study aimed to assess the validity of adult patient end-of-workout rating of session perceived exertion (sRPE); and calculated training load (TL) (sRPE × session duration) as measures of exercise intensity. Secondly, the study aimed to compare clinician and patient perception of exercise effort during physiotherapist-led sessions.

Research

Many young people are exposed to risk factors that increase their risk of mental illness. Physical activity provision is an increasingly popular approach to protect against mental illness in the face of these risk factors. We examined the effectiveness of physical activity interventions for the promotion of mental health outcomes in at-risk children and adolescents.

Research

Chronic pain assessment tools exist for children, but may not be valid, reliable, and feasible for populations with functional, cognitive or communication limitations, for example, cerebral palsy (CP). This study aimed to (i) identify chronic pain assessment tools used with children and young people and rate their measurement properties; (ii) develop a CP specific feasibility rating tool to assess the feasibility of tools in CP; and (iii) categorise tools according to reporting method.

Research

Physical literacy development in early childhood, viewed by many as the foundation for lifelong physical activity engagement, is significantly influenced by parents. Our aim was to explore parents' understanding of physical literacy and gain insight into their perspectives on physical literacy promotion.