ArticleEpilepsia open2021
Developmental and epileptic encephalopathy: Personal utility of a genetic diagnosis for families.
Article in Epilepsia open, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed.
- Genetic Diagnosis in Epilepsy: Implications for Clinical Management.Current neurology and neuroscience reports · 2026Review
- The expected utility and psychological impacts of exome sequencing results in the DDD-Africa study.Journal of genetic counseling · 2026Article
- Genome sequencing boosts diagnostic yield for the developmental and epileptic encephalopathies.medRxiv : the preprint server for health sciences · 2026Article
- The personal utility of genetic testing in children with epilepsy.Journal of genetic counseling · 2026Article
- "Listening to the word autism changes everything": the impact of an Autism Spectrum disorder diagnosis on families.Frontiers in psychology · 2026Article
- Real-world experience of diagnosis, disability, and daily management in parents of children with different genetic developmental and epileptic encephalopathies: a qualitative study.Annals of medicine · 2025Article
- Medical Biases and Misconceptions Impact Diagnoses in Males With Loss of Function MECP2 Variants.American journal of medical genetics. Part A · 2025Article
- Putting control into parents' hands: Parent experiences with a genomic results e-booklet.Journal of genetic counseling · 2025Article
- Parental attitudes and experiences in pursuing genetic testing for their child's motor speech disorder.European journal of human genetics : EJHG · 2025Article
- Monogenic Epilepsies in Adult Epilepsy Clinics and Gene-Driven Approaches to Treatment.Current neurology and neuroscience reports · 2025Review
- Psychological evaluation of candidates for the uterus transplantation French trial.Acta obstetricia et gynecologica Scandinavica · 2025Article
- 'You constantly have to be switched on': A qualitative interview study of parents of children with STXBP1-related disorders in the Netherlands.Orphanet journal of rare diseases · 2025Article
- Developmental and Epileptic Encephalopathy: Pathogenesis of Intellectual Disability Beyond Channelopathies.Biomolecules · 2025Review
- Role of next generation sequencing in diagnosis and management of critically ill children with suspected monogenic disorder.European journal of human genetics : EJHG · 2024Article
- Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement.Nature communications · 2024Article
- Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study.The Lancet. Neurology · 2023Article
- Early-infantile developmental and epileptic encephalopathy: the aetiologies, phenotypic differences and outcomes-a prospective observational study.Brain communications · 2023Article
- Hearing parents' voices: A priority-setting workshop to inform a suite of psychological resources for parents of children with rare genetic epilepsies.PEC innovation · 2022Article
- Targeted Whole Exome Sequencing in Children With Early-Onset Epilepsy: Parent Experiences.Journal of child neurology · 2022Article
- Current practice in diagnostic genetic testing of the epilepsiesEpileptic disorders : international epilepsy journal with videotape · 2022Article
Corrections and comments
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Objectives: 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.
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