Economic Evaluation of Newborn Screening for Severe Combined Immunodeficiency

Evidence on the cost-effectiveness of newborn screening (NBS) for severe combined immunodeficiency (SCID) in the Australian policy context is lacking. In this study, a pilot population-based screening program in Australia was used to model the cost-effectiveness of NBS for SCID from the government perspective. Markov cohort simulations were nested within a decision analytic model to compare the costs and quality-adjusted life-years (QALYs) over a time horizon of 5 and 60 years for two strategies: (1) NBS for SCID and treat with early hematopoietic stem cell transplantation (HSCT); (2) no NBS for SCID and treat with late HSCT. Incremental costs were compared to incremental QALYs to calculate the incremental cost-effectiveness ratios (ICER). Sensitivity analyses were performed to assess the model uncertainty and identify key parameters impacting on the ICER. In the long-term over 60 years, universal NBS for SCID would gain 10 QALYs at a cost of US $0.3 million, resulting in an ICER of US$33,600/QALY. Probabilistic sensitivity analysis showed that more than half of the simulated ICERs were considered cost-effective against the common willingness-to-pay threshold of A$50,000/QALY (US$35,000/QALY). In the Australian context, screening for SCID should be introduced into the current NBS program from both clinical and economic perspectives

Newborn screening for spinal muscular atrophy with disease-modifying therapies: A cost-effectiveness analysis

Objective: To assess cost-effectiveness of newborn screening (NBS) for spinal muscular atrophy (SMA) and early treatment with nusinersen or onasemnogene abeparvovec (gene therapy), compared with nusinersen without SMA screening. Methods: Informed by an Australian state-wide SMA NBS programme, a decision analytical model nested with Markov models was constructed to evaluate costs and quality-adjusted life-years (QALYs) from a societal perspective with sensitivity analyses. Results: By treating one presymptomatic SMA infant with nusinersen or gene therapy, an additional 9.93 QALYs were gained over 60 years compared with late treatment in clinically diagnosed SMA. The societal cost was $9.8 million for early nusinersen treatment,$4.4 million for early gene therapy and $4.8 million for late nusinersen treatment. Compared with late nusinersen treatment, early gene therapy would be dominant, gaining 9.93 QALYs while saving$360 000; whereas early nusinersen treatment would result in a discounted incremental cost-effectiveness ratio (ICER) of $507 000/QALY. At a population level, compared with no screening and late treatment with nusinersen, NBS and early gene therapy resulted in 0.00085 QALY gained over 60 years and saving$24 per infant screened (85 QALYs gained and $2.4 million saving per 100 000 infants screened). More than three quarters of simulated ICERs by probability sensitivity analyses showed NBS and gene therapy would be dominant or less than$50 000/QALY, compared with no screening and late nusinersen treatment. Conclusion: NBS coupled with gene therapy improves the quality and length of life for infants with SMA and would be considered value-for-money from an Australian clinical and policy context

Bike skills training for children with cerebral palsy: protocol for a randomised controlled trial

INTRODUCTION: Two-wheel bike riding can be a goal for children with cerebral palsy (CP) and a means of participating in physical activity. It is possible for some children with CP to ride a two-wheel bike; however, currently far fewer can ride compared with their typically developing peers. Evidence supports training targeted towards goals of the child with CP and their family; yet there is little evidence to guide best-practice bike skills training. Task-specific training may lead to attainment of two-wheel bike-specific goals. This study aims to determine if a novel task-specific approach to training two-wheel bike skills is more effective than a parent-led home programme for attaining individualised two-wheel bike-specific goals in independently ambulant children with CP aged 6-15 years. METHODS AND ANALYSIS: Sixty eligible children with CP (Gross Motor Function Classification System levels I-II) aged 6-15 years with goals relating to riding a two-wheel bike will be randomised to either a novel task-specific centre-based group programme (intervention) or a parent-led home-based programme (comparison), both involving a 1-week intervention period. The primary outcome is goal attainment in the week following the intervention period (T1). Secondary outcomes include: goal attainment and participation in physical activity at 3 months postintervention (T2) and bike skills, attendance and involvement in bike riding, self-perception and functional skills at T1 and T2. Economic appraisal will involve cost-effectiveness and cost-utility analyses. Adherence of clinicians and parents to the intervention and comparison protocols will be assessed. Linear and logistic regression will be used to assess the effect of the intervention, adjusted for site as used in the randomisation process. ETHICS AND DISSEMINATION: This study was approved by the Human Research and Ethics Committees at The Royal Children's Hospital (#36209). Results will be disseminated via peer-reviewed publications and conference presentations. TRIAL REGISTRATION NUMBER: NCT03003026; Pre-results

An Examination of Parent-Reported Facilitators and Barriers to Organized Physical Activity Engagement for Youth With Neurodevelopmental Disorders, Physical, and Medical Conditions

Organized physical activity (OPA) is an important contributor to physical, social, and emotional health and well-being; however, young people with disabilities are participating at lower rates than their peers without disabilities. This study aimed to (1) compare facilitators and barriers to OPA for young people with disabilities who currently do and do not participate in OPA and (2) to assess whether groups differed in the type of internal and external assets they reported. Parents of 218 young people (41% with a primary diagnosis of autism spectrum disorder) with a diverse representation of disabilities completed an online survey. Young people were categorized as either participants in OPA (n = 131) or non-participants (n = 87) by parent report. Non-participation was significantly predicted by the barrier "there are no activities my child enjoys" and by a lack of children's motivation and happiness during OPA. Significant internal assets differentiating participants from non-participants were the ability to understand simple instructions, love of sport, and meeting physical activity guidelines. Significant external assets were parent and sibling participation in OPA, school type, and household income. The findings from this study have important implications for the design of public health interventions that aim to promote OPA in young people with disabilities, highlighting the need to make activities enjoyable, promote participation of siblings and parents, and support low-income families to participate