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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.
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.
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.
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).
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.
Citation: Marpole R, Langdon K, Wilson A. Gastrostomy feeding in children with severe cerebral palsy in Western Australia. Acta Paediatr Int J
Accelerate will develop and pilot, a multi-directorate teaching and training network for early detection of cerebral palsy (CP), encompassing key clinical partners across CAHS and WACHS.
Cerebral palsy is a diagnosis based on clinical signs and not aetiology or pathology, with only ~50% of children receiving a clinical diagnosis in the first year of life; limiting the opportunity for intervention where maximal neuronal plasticity may occur.
This study described the rehabilitation services accessed by children with stroke following acute admission to two Australian paediatric tertiary hospitals prior to the implementation of clinical practice guidelines. It also evaluated quality-of-care indicators for inpatient rehabilitation within these two settings.
To describe writhing General Movements Assessment (GMA) classification and General Movement Optimality Score-Revised (GMOS-R) profiles in the general population; to explore relationships between GMOS-R scores and GMA classification, age of assessment and infant socio-demographic factors; and to establish the inter-rater reproducibility of writhing age GMA classification and GMOS-R.