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Background: Achondroplasia, the most prevalent skeletal dysplasia, stems from a functional mutation in the fibroblast growth factor receptor 3 gene, leading to growth impairment. This condition presents multifaceted medical, functional and psychosocial challenges throughout childhood, adolescence and adulthood. Current management strategies aim to minimise medical complications, optimise functional capabilities and provide comprehensive supportive care. Vosoritide (trade name: VOXZOGO®, BioMarin Pharmaceuticals) is the first disease-modifying pharmaceutical treatment approved for the management of patients with achondroplasia and became available in Australia in May 2023. Methods: Standardised clinical guidelines for its optimal use are not yet widely available. To address this gap, a multidisciplinary Australian Vosoritide Working Group, comprising 12 experts with experience in achondroplasia management from across Australia, developed recommendations to guide the use of vosoritide in clinical practice. Results: The recommendations, which are expert opinions of the Australian Vosoritide Working Group, aim to (i) standardise the use of vosoritide across Australia, (ii) support the safe clinical rollout of vosoritide and (iii) support universal access. Conclusions: These recommendations have been developed for healthcare professionals and institutions that are engaged in using vosoritide in the management of achondroplasia and will be revised using a formal framework for clinical guideline development once more evidence is available. [ABSTRACT FROM AUTHOR]

Aim: To establish the burden of respiratory illness in cerebral palsy (CP) on the Western Australian health care system by quantifying the costs of respiratory hospitalizations in children with CP, compared with non‐respiratory hospitalizations. Method: A 2‐year (2014–2015) retrospective study using linked hospital data (excluding emergency department visits), in a population of children with CP in Western Australia aged 18 years and under (median age at hospitalization 7 years; interquartile range 5–12 years). Results: In 671 individuals (57% male) there were 726 emergency hospitalizations, and 1631 elective hospitalizations. Although there were more elective hospitalizations, emergency hospitalizations were associated with longer stays in hospital, and more days in an intensive care unit, resulting in a higher total cost of emergency hospitalizations than elective hospitalizations (total costs: emergency AU$7 748 718 vs elective AU$6 738 187). 'Respiratory' was the leading cause of emergency hospitalizations, contributing to 36% of all emergency admission costs. For a group of high‐cost inpatient users (top 5% of individuals with the highest total inpatient costs) the most common reason for hospitalization was 'respiratory'. Where non‐respiratory admissions were complicated by an additional respiratory diagnosis, length of stay was greater. Interpretation: Respiratory hospitalizations in CP are a significant driver of health care costs. In the paediatric group, they are a burden for a subgroup of children with CP. What this paper adds: Respiratory illness is the most costly area for unplanned, emergency hospitalizations for children and young people with cerebral palsy.The top 5% of individuals with the highest total inpatient costs account for a disproportionate amount of health care costs. What this paper adds: Respiratory illness is the most costly area for unplanned, emergency hospitalizations for children and young people with cerebral palsy.The top 5% of individuals with the highest total inpatient costs account for a disproportionate amount of health care costs. [ABSTRACT FROM AUTHOR]

Aim: To provide a birds-eye view of the trends of cerebral palsy (CP) for Australian Aboriginal and Torres Strait Islander children and young adults. Method: Data were obtained for this population-based observational study from the Australian Cerebral Palsy Register (ACPR), birth years 1995 to 2014. The Indigenous status of children was classified by maternal Aboriginal and Torres Strait Islander or non-Indigenous status. Descriptive statistics were calculated for socio-demographic and clinical characteristics. Prenatal/perinatal and post-neonatal birth prevalence was calculated per 1000 live births and per 10 000 live births respectively, and Poisson regression used to assess trends. Results: Data from the ACPR were available for 514 Aboriginal and Torres Strait Islander individuals with CP. Most children could walk independently (56%) and lived in urban or regional areas (72%). One in five children lived in socioeconomically disadvantaged remote/very remote areas. The birth prevalence of prenatal/perinatal CP declined after the mid-2000s from a high of 4.8 (95% confidence interval 3.2-7.0) to 1.9 per 1000 live births (95% confidence interval 1.1-3.2) (2013-2014), with marked declines observed for term births and teenage mothers. Interpretation: The birth prevalence of CP in Aboriginal and Torres Strait Islander children in Australia declined between the mid-2000s and 2013 to 2014. This birds-eye view provides key stakeholders with new knowledge to advocate for sustainable funding for accessible, culturally safe, antenatal and CP services. [ABSTRACT FROM AUTHOR]

Aim: To provide recommendations for interventions to improve physical function for children and young people with cerebral palsy. Method: An expert panel prioritized questions and patient‐important outcomes. Using Grading of Recommendations Assessment, Development and Evaluation (GRADE) methods, the panel assessed the certainty of evidence and made recommendations, with international expert and consumer consultation. Results: The guideline comprises 13 recommendations (informed by three systematic reviews, 30 randomized trials, and five before–after studies). To achieve functional goals, it is recommended that intervention includes client‐chosen goals, whole‐task practice within real‐life settings, support to empower families, and a team approach. Age, ability, and child/family preferences need to be considered. To improve walking ability, overground walking is recommended and can be supplemented with treadmill training. Various approaches can facilitate hand use goals: bimanual therapy, constraint‐induced movement therapy, goal‐directed training, and cognitive approaches. For self‐care, whole‐task practice combined with assistive devices can increase independence and reduce caregiver burden. Participation in leisure goals can combine whole‐task practice with strategies to address environmental, personal, and social barriers. Interpretation: Intervention to improve function for children and young people with cerebral palsy needs to include client‐chosen goals and whole‐task practice of goals. Clinicians should consider child/family preferences, age, and ability when selecting specific interventions. This clinical practice guide is commented by Saloojee on page 530 of this issue. [ABSTRACT FROM AUTHOR]

Objective: To investigate feasibility of aquatic high intensity interval training for adolescents with cerebral palsy, who can ambulate independently but may choose a mobility aid in some circumstances. Design: Pilot randomised controlled trial. Method: Following baseline assessments, participants were randomised to usual care or ten weeks of twice weekly aquatic high intensity interval training. Each class comprised 10 one-minute exercise intervals separated by one-minute rest. High intensity exercise was defined as the attainment of ⩾80% of peak heart rate measured by telemetry. Setting: Tertiary paediatric hospital. Main Measures: Primary outcomes related to the feasibility of the protocol to progress to a definitive trial. Consumer feedback was obtained. Results: Of 119 potential participants, 46 appeared eligible and 17 consented, resulting in a recruitment fraction of 37% (95% CI 23–52). Twelve completed baseline assessments and were randomised (5 males; 14 years 7 months SD 2 years 0 months). In the intervention group, of the 1190 exercise stations (across all participants and sessions), heart rate data were available for 1180 stations and high intensity exercise was achieved during 1111 stations (93%, 95% CI 92–95). All randomised participants completed the study and reported that the intervention was fun and provided friendship opportunities. There were no major adverse events or exacerbation of pain. Conclusions: Aquatic high intensity interval training in ambulant adolescents with cerebral palsy is feasible, while maintaining adherence and fidelity. Uncertainty remains on the efficacy of the intervention, highlighting the need for a large definitive trial. [ABSTRACT FROM AUTHOR]

The prevalence of fundoplication in WA children with CP was 1% and highest in GMFCS V. The majority of the fundoplications were done at the time of gastrostomy insertion; however, few of these were performed in WA. Keywords: cerebral palsy; fundoplication; gastrojejunal tubes; gastrostomy; severe disability EN cerebral palsy fundoplication gastrojejunal tubes gastrostomy severe disability 680 681 2 02/24/22 20220301 NES 220301 Oropharyngeal dysphagia and gastrooesophageal reflux are common complications in children with cerebral palsy (CP), and both are risk factors for respiratory disease.1 The likely cause of foregut dysfunction in severe neurodisability is their primary brain injury as the enteric nervous system is modulated by the central nervous system.2 A mitigation strategy around dysphagia is mealtime modification of food and drinks, with some children requiring gastrostomy insertion to ensure adequate nutrition and growth and for administration of medication. [Extracted from the article]

Records were eligible for inclusion if the children had CP, were aged 0 to 18 years, had a Gross Motor Function Classification System (GMFCS) Level of IV or V, and had a respiratory-related hospital admission between 1 January 2010 and 31 December 2014. Abbreviations BiPAP bilevel positive airway pressure CP cerebral palsy CPAP continuous positive airway pressure GMFCS Gross Motor Function Classification System ICD-10 International Statistical Classification of Diseases and Related Health Problems, 10th Revision ICU intensive care unit LOS length of stay M mean SD standard deviation Key Notes Respiratory illness can lead to prolonged hospital admission in children with cerebral palsy. Children with severe cerebral palsy (CP) have many medical co-morbidities, often managed by hospital inpatient admissions. [Extracted from the article]

Respiratory illness is the leading cause of mortality in children with cerebral palsy (CP). Although risk factors for developing chronic respiratory illness have been identified, comprehensive clinical care recommendations for the prevention and management of respiratory illness do not currently exist. We invited over 200 clinicians and researchers from multiple disciplines with expertise in the management of respiratory illness in children with CP to develop care recommendations using a modified Delphi method on the basis of the RAND Corporation-University of California Los Angeles Appropriateness Method. These recommendations are intended for use by the wide range of practitioners who care for individuals living with CP. They provide a framework for recognizing multifactorial primary and secondary potentially modifiable risk factors and for providing coordinated multidisciplinary care. We describe the methods used to generate the consensus recommendations, and the overall perspective on assessment, prevention, and treatment of respiratory illness in children with CP. WHAT THIS PAPER ADDS: The first consensus statement for preventing and managing respiratory disease in cerebral palsy (CP). Risk factors for respiratory disease in CP should be identified early. Individuals with CP at risk of respiratory disease require regular assessment of risk factors. Effective partnerships between multidisciplinary teams, individuals with CP, and families are essential. Treatment of respiratory disease in individuals with CP must be proactive., (© 2020 The Authors. Developmental Medicine & Child Neurology published by John Wiley & Sons Ltd on behalf of Mac Keith Press.)