ArticleAnnals of medicine2025
Real-world experience of diagnosis, disability, and daily management in parents of children with different genetic developmental and epileptic encephalopathies: a qualitative study.
Article in Annals of medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed.
- Consensus-based follow-up and treatment registry for GNAO1-associated disorder.Developmental medicine and child neurology · 2026Article
- Values of Individuals With Rare Genetic Neurodevelopmental Disorders and Their Family/Caregivers in Healthcare: A Scoping Review to Inform Guideline Development.Journal of intellectual disability research : JIDR · 2026Article
- "Listening to the word autism changes everything": the impact of an Autism Spectrum disorder diagnosis on families.Frontiers in psychology · 2026Article
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Authors and funding
10 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeThis study describes the experience of parents of children with developmental and epileptic encephalopathies (DEE) and how the disease impacts their daily lives. MATERIALS AND
methodsA descriptive qualitative study was conducted using purposeful sampling. Twenty-one parents of children with DEEs caused by SCN1A, KCNQ2, CDKL5, PCDH19, and GNAO1 variants were included. Data collection was based on in-depth interviews and researchers' field notes. An inductive thematic analysis was performed.
resultsFive themes emerged: (a) the diagnostic process, which describes the path from the time parents recognize the first symptoms until diagnostic confirmation is obtained; (b) the relationship with health professionals during the search for a diagnosis, which describes how the entire process is conditioned by the relationships established; (c) the world of disability, revealing how the disease and disability impact the life of the parents; (d) living day to day, the parents continuously change their plans in anticipation of the onset of a seizure; (e) the disease progression, a cause of great concern in the parents.
conclusionsOur results show the need to develop recovery programs that integrate health and social interventions to support parents of children with DEE in the process of diagnosis and disease management.
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