Experiences and concerns of parents of children with a 16p11.2 deletion or duplication diagnosis: a reflexive thematic analysis.

BACKGROUND: 16p11.2 proximal deletion and duplication syndromes (Break points 4-5) (593KB, Chr16; 29.6-30.2mb - HG38) are observed to have highly varied phenotypes, with a known propensity for lifelong psychiatric problems. This study aimed to contribute to a research gap by qualitatively exploring the challenges families with 16p11.2 deletion and duplication face by answering three research questions: (1) What are parents' perceptions of the ongoing support needs of families with children who have 16p11.2 living in the UK?; (2) What are their experiences in trying to access support?; (3) In these regards, do the experiences of parents of children with duplication converge or vary from those of parents of children with 16p11.2 deletion? METHODS: 33 parents with children (aged 7-17 years) with 16p11.2 deletion or duplication participated in structured interviews, including the Autism Diagnostic Interview- Revised (ADI-R). Their answers to the ADI-R question 'what are your current concerns' were transcribed and subsequently analysed using Braun and Clarke's six step reflexive thematic analysis framework. RESULTS: Three themes were identified: (1) Child is Behind Peers (subthemes: developmentally; academically; socially; emotionally); (2) Metabolism and Eating Patterns and; (3) Support (subthemes: insufficient support available; parent has to fight to access support; COVID-19 was a barrier to accessing support; 16p11.2 diagnosis can be a barrier to support, child is well-supported). CONCLUSIONS: Parents of children with either 16p11.2 deletion or duplication shared similar experiences. However, metabolism concerns were specific to parents of children with 16p11.2 deletion. The theme Child is Behind Peers echoed concerns raised in previous Neurodevelopmental Copy Number Variant research. However, there were some key subthemes relating to research question (2) which were specific to this study. This included parents' descriptions of diagnostic overshadowing and the impact of a lack of eponymous name and scant awareness of 16p11.2.

Early Autism Intervention Components Deliverable by Non-specialists in Low- and Middle-Income Countries: A Scoping Review.

Introduction: The past decade has seen key advances in early intervention for autistic children in high-income countries, with most evidence based on specialist delivery of interventions. The care gap seen in low- and middle-income countries (LMIC) remains close to 100%. A key challenge in addressing this care gap concerns the paucity of specialists available to deliver services. Task-sharing provides an important potential solution; there is a need to identify interventions that are suitable for scaled-up delivery through task-sharing in low-resourced settings. We aimed to conduct a scoping review to identify studies which reported autism intervention delivered by non-specialists within LMIC and, using established frameworks, specify intervention components with evidence of successful non-specialist delivery. Methods: A scoping literature search, conducted within four databases, generated 2,535 articles. Duplicates were removed, followed by screening of titles and abstracts, with 10% double-rated for reliability. 50 full text articles were then screened independently by two raters. Articles were included if studies: (a) were conducted in LMIC; (b) included samples of autistic children (age < 10); (c) evaluated psycho-social interventions delivered by non-specialists; (d) reported child outcomes; and (e) were peer-reviewed full-texts in English. Two established frameworks - @Practicewise and NDBI-Fi framework - were then used to ascertain the commonly delivered components of these interventions. Results: Two studies met the inclusion criteria. Both studies evaluated parent-mediated interventions delivered by non-specialists in South Asia. Through the two frameworks, we identified elements and techniques that had been delivered successfully by non-specialists. Conclusion: There is evidence from two acceptability and feasibility trials that non-specialists can be trained to deliver some intervention elements and techniques within parent-mediated interventions, with good fidelity and acceptability and evidence of effectiveness. The review points up the lack of a widespread evidence base in this area and need for further research in low resourced settings, including well-powered trials and mechanistic analyses to identify active ingredients. A focus on the pre-requisites for non-specialist delivery is critical to reduce inequity and provide universal health coverage within resource-constrained health systems.