Impact of genetic testing in developmental and epileptic encephalopathy– parents’ perspective
This study provides insight into the parental experiences of genetic testing in children with DEE. It is important for the parents of a child with DEE to know the cause of disease. Parents of children with DEE who received a genetic diagnosis experienced relief, but also negative feelings associated with receiving the result of the genetic test. Support and follow-up after a conclusive diagnostic test should therefore be prioritized.
Authors
- Jeanette Koht (ORCID: https://orcid.org/0000-0002-5499-0818)
- Ida Stenshorne (ORCID: https://orcid.org/0000-0002-4632-4903)
- Marte Syvertsen (ORCID: https://orcid.org/0000-0003-2182-4247)
- Kaja Kristine Selmer (ORCID: https://orcid.org/0000-0003-4871-112X)
- Anette Ramm‐Pettersen
- Mari Wold Henriksen
Institutions
- Oslo University Hospital (NO)
- University of Oslo (NO)
- Drammen Hospital (NO)
- Vestre Viken Hospital Trust (NO)
Publication Details
- Journal
- Epilepsy & Behavior
- Published
- 2024-12-22
- DOI
- https://doi.org/10.1016/j.yebeh.2024.110174
- Citations
- 2
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 1.10
Funders
- Helse Sør-Øst RHF