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

Charlotte E Butter; Caitlin L Goldie; Jessica H Hall; Kathy Leadbitter; Emma M M Burkitt; Marianne B M van den Bree; Jonathan M Green

doi:10.1186/s40359-024-01609-9

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

BMC Psychol. 2024 Mar 12;12(1):137. doi: 10.1186/s40359-024-01609-9.

Authors

Charlotte E Butter¹, Caitlin L Goldie², Jessica H Hall³, Kathy Leadbitter², Emma M M Burkitt⁴, Marianne B M van den Bree^{3

5

6}, Jonathan M Green²

Affiliations

¹ Division of Psychology and Mental Health, School of Health Sciences, University of Manchester, Manchester, UK. charlotte.butter@manchester.ac.uk.
² Division of Psychology and Mental Health, School of Health Sciences, University of Manchester, Manchester, UK.
³ Division of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Cardiff, UK.
⁴ Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK.
⁵ Neuroscience and Mental Health Innovation Institute, Cardiff University, Cardiff, UK.
⁶ Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Cardiff, UK.

Abstract

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.

Keywords: 16p11.2 deletion; 16p11.2 duplication; Autism; Children; Experiences; Families; Neurodevelopmental; Overshadowing; Qualitative; Support.

MeSH terms

Autistic Disorder* / genetics
Child
Chromosome Deletion*
Humans
Parents

Abstract

MeSH terms

Grants and funding