Developmental Medicine and Child Neurology最新文献

Aim: To describe research priority-setting activities for cerebral palsy (CP) that have been conducted worldwide involving people with lived experience, focusing on participant characteristics, methods employed, identified research priorities, and collaboration as research partners.

Method: The JBI scoping review approach was followed. Six electronic databases and grey literature were searched for all publications up to February 2024. We extracted study and participant characteristics, methods, and research priorities. Priorities were then categorized into prevention and cure, quality of life and community engagement, and service provision and intervention.

Results: Five studies from North America and Australia met the inclusion criteria. Participants with lived experience were most often parents/caregivers (n = 135, proportion 12-80%), with 54 (proportion 12-25%) people with CP participating in the priority-setting exercises. The studies' methods were varied, with surveys and workshops being the most common. The most reported category of research priorities was optimal intervention. People with lived experience collaborated as research partners (e.g. in aspects of study development/analysis/reporting) in four studies.

Interpretation: This review, the first to examine CP research priority-setting efforts on a global scale, identified five activities conducted to date. The small overall number of participants with lived experience of CP, originating only from North America and Australia, highlights the need for increased representation to better reflect the diverse CP community worldwide. Future projects need to address these gaps, using rigorous methodologies, and continued collaboration with research partners to ensure their perspectives shape and enhance the research agenda.

Aim: To examine the adaptive behaviour profiles of children with monogenic neurodevelopmental disorders (NDDs) to determine whether syndrome-specific or transdiagnostic approaches provide a better understanding of the adaptive behavioural phenotypes of these NDDs.

Method: This cross-sectional study included parents and caregivers of 243 (48% female) individuals (age range = 1-25 years; mean = 8 years 10 months, SD = 5 years 8 months) with genetically confirmed monogenic NDDs (CDK13, DYRK1A, FOXP2, KAT6A, KANSL1, SETBP1, BRPF1, and DDX3X). Parents and caregivers completed the Vineland Adaptive Behavior Scales, Third Edition to assess communication, daily living, socialization, and motor skills.

Results: Linear regression models comparing mean adaptive behaviours between monogenic NDDs, adjusting for the presence of intellectual disability, revealed few group differences. Children with variants in BRPF1 or KANSL1 had better adaptive behaviour skills compared to children with variants in CDK13, DDX3X, DYRK1A, and KAT6A, although group differences varied across domains. A latent profile analysis showed compelling evidence for a five-profile model. These profiles were homogeneous, with similar delays across the subdomain scores in each profile. Additionally, each monogenic NDD was represented in each profile, with a few exceptions.

Interpretation: Transdiagnostic approaches to understand adaptive behaviour in monogenic NDDs provide a better understanding of individual strengths and challenges, enabling more targeted support.