Developmental and epileptic encephalopathy: Personal utility of a genetic diagnosis for families

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dc.citation.issue1
dc.citation.volume6
dc.contributor.authorJeffrey JS
dc.contributor.authorLeathem J
dc.contributor.authorKing C
dc.contributor.authorMefford HC
dc.contributor.authorRoss K
dc.contributor.authorSadleir LG
dc.coverage.spatialUnited States
dc.date.accessioned2023-11-27T20:22:27Z
dc.date.accessioned2024-07-25T06:43:16Z
dc.date.available2021-01-19
dc.date.available2023-11-27T20:22:27Z
dc.date.available2024-07-25T06:43:16Z
dc.date.issued2021-03
dc.description.abstractObjectives Identifying genetic pathogenic variants improves clinical outcomes for children with developmental and epileptic encephalopathy (DEE) by directing therapy and enabling accurate reproductive and prognostic information for families. We aimed to explore the additional personal utility of receiving a genetic diagnosis for families. Methods Semi-structured interviews were conducted with fifteen families of children with a DEE who had received a genetic diagnosis. The interviews stimulated discussion focusing on the impact of receiving a genetic diagnosis for the family. Interview transcripts were analyzed using the six-step systematic process of interpretative phenomenological analysis (IPA). Results Three key themes were identified: “Importance of the label,” “Relief to end the diagnostic journey,” and “Factors that influence personal utility.” Families reported that receiving a genetic label improved their knowledge about the likely trajectory of the DEE, increased their hope for the future, and helped them communicate with others. The relief of finally having an answer for the cause of their child's DEE alleviated parental guilt and self-blame as well as helped families to process their grief and move forward. Delay in receipt of a genetic diagnosis diluted its psychological impact. Significance To date, the factors associated with the personal utility of a genetic diagnosis for DEEs have been under appreciated. This study demonstrates that identifying a genetic diagnosis for a child's DEE can be a psychological turning point for families. A genetic result has the potential to set these families on an adaptive path toward better quality of life through increased understanding, social connection, and support. Early access to genetic testing is important as it not only increases clinical utility, but also increases personal utility with early mitigation of family stress, trauma, and negative experiences.
dc.format.pagination149-159
dc.identifier.author-urlhttps://www.ncbi.nlm.nih.gov/pubmed/33681658
dc.identifier.citationJeffrey JS, Leathem J, King C, Mefford HC, Ross K, Sadleir LG. (2021). Developmental and epileptic encephalopathy: Personal utility of a genetic diagnosis for families.. Epilepsia Open. 6. 1. (pp. 149-159).
dc.identifier.doi10.1002/epi4.12458
dc.identifier.eissn2470-9239
dc.identifier.elements-typejournal-article
dc.identifier.issn2470-9239
dc.identifier.urihttps://mro.massey.ac.nz/handle/10179/70744
dc.languageeng
dc.publisherWiley Periodicals LLC on behalf of International League Against Epilepsy
dc.relation.isPartOfEpilepsia Open
dc.subjectcaregiver
dc.subjectfamily impact
dc.subjectgenetics
dc.subjectpsychological well‐being
dc.subjectqualitative
dc.subjectAdolescent
dc.subjectAdult
dc.subjectBrain Diseases
dc.subjectChild
dc.subjectChild, Preschool
dc.subjectEpileptic Syndromes
dc.subjectFemale
dc.subjectGenetic Predisposition to Disease
dc.subjectGenetic Testing
dc.subjectHumans
dc.subjectInfant
dc.subjectInfant, Newborn
dc.subjectInterviews as Topic
dc.subjectMale
dc.subjectNeurodevelopmental Disorders
dc.subjectParents
dc.subjectYoung Adult
dc.titleDevelopmental and epileptic encephalopathy: Personal utility of a genetic diagnosis for families
dc.typeJournal article
pubs.elements-id440113
pubs.organisational-groupOther
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