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

A reflexive thematic analysis

Bibliographic Data

ID17819451
AuthorsCharlotte Butter (corresponding author), Charlotte E Butter, Caitlin Goldie (University of Manchester), Caitlin L Goldie, Jessica H Hall (Cardiff University), Kathy Leadbitter (0000-0002-0744-2800, Manchester Academic Health Science Centre), Emma M M Burkitt (Manchester University NHS Foundation Trust), Marianne B M Van Den Bree (0000-0002-4426-3254, Cardiff University), Jonathan Green (0000-0002-0143-181X, University of Manchester), Jonathan M Green (0000-0002-7449-4387)
Year2024
Volume12
Issue1
Pages137-137
Publication date2024-03-12
Peer ReviewedYes
Open AccessYes
TypeARTICLE
VenueBMC Psychology (JOURNAL)
Journal identifiersISSN: 2050-7283 • E-ISSN: 2050-7283
PublisherBioMed Central (PUBLISHER • GB)
DOI10.1186/s40359-024-01609-9
PMID38475925
OpenAlexW4392691687
LanguageEN
Citations received1
References cited25

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

Autism · Developmental psychology · Gene duplication · Qualitative research · Reflexivity · Thematic analysis · Autism Spectrum Disorder Research · Congenital heart defects research · Genomic variations and chromosomal abnormalities · Psychology · Genetics

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Open DOIOpen Access