Impact of genetic testing in developmental and epileptic encephalopathy- parents' perspective

Developmental and epileptic encephalopathies (DEEs) are a group of severe and heterogeneous epilepsies. Most of the affected patients have treatment refractory seizures, intellectual disability (ID), and multiple comorbidities. The condition has a negative impact on quality of life, both for the patients and their families. In recent decades, genetic testing has become an important part of the diagnostic routine investigation of patients with DEE. However, there are few quantitative studies on parental experiences and their perspectives on the genetic testing of their children. The aim of the present study was to describe parental experiences and perspectives concerning genetic testing, to investigate the importance of receiving an etiologic diagnosis, and consider the emotional impact of test results on parents.

Based on a systematic literature search, a semi-quantitative questionnaire was designed to investigate the experiences of caregivers of patients with DEE, focusing on the period of genetic investigation. Eligible participants were caregivers of patients with epilepsy and intellectual disability or psychomotor delay (DEE) who had been through genetic investigation. Participants were consecutively recruited at Drammen Hospital (Norway) and through online recruitment in 2022-2023. The study was explorative and descriptive, and statistical analyses were performed with STATA.

Among the 60 responding caregivers, 59 were biological parents (32-75 years old) of children with DEE (1-43 years old) and were included in the statistical analyses. Among them, 67 % had a child with a genetic diagnosis. Knowing the etiology of the child's DEE was important for 91 %. Prior to genetic diagnostics, 62 % thought that knowing the cause of disease would make it easier to handle the epilepsy and other medical challenges. A large proportion (71 %) reported having had concerns about the cause of their child's disease before a potential genetic diagnosis was established, and, among these, 67 % suspected that something had happened during pregnancy or birth. The result of the genetic test led to a significantly higher degree of self-reported relief, grief, sadness, loneliness, and despair for the parents of a child that received a specific genetic diagnosis, compared to those who did not receive a diagnosis. While 24 % of parents had felt guilt concerning their child's epileptic condition (at any time), only 8,6% reported feeling guilt when receiving the result of the genetic test.

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.