Health Science Reviews

By Anna Butler

Parenting small children is hard enough – chickenpox, tantrums and stepping on lego in the middle of the night! Now imagine a real curveball: your child suddenly develops epileptic seizures. You’ve seen all the doctors and tried every medication, but nothing seems to work. Being in and out of the hospital affects your quality of life, and you’re unsure how to manage it. On top of this, your child appears to have developmental delays, and you’re not sure if these are related to the seizures or not.

This is a real experience faced by families of children affected by developmental and epileptic encephalopathies (DEE), a group of epilepsy disorders characterised by medication-resistant seizures starting in early and childhood as well as developmental deficits.

Genetic testing DEE patients has revolutionised management of these disorders. It allows for a genetic diagnosis to be made, meaning that doctors can focus on treating the underlying problem rather than symptoms alone. While much research has explored the clinical benefit of genetic testing, less is known about its emotional impact on parents.

To address this gap, a multidisciplinary research team from the University of New South Wales conducted the first study looking into psychosocial effects of genetic testing in DEE. They recruited 25 parents of children who had undergone genetic testing for DEE. Methods included semi-structured interviews and two questionnaires: the Quality-of-Life Scale (family version) (QoL-FV) and the Genetic Counselling Satisfaction Scale (GCSS). The interview results were analysed for emerging themes which were compared with the survey findings to gain a fuller picture of parents’ experiences.

The study revealed that parents valued compassionate genetic counselling, and that it contributed to increased hope and processing of the diagnosis. However, they also reported significant stress after receiving results, largely due to feelings of uncertainty about their child’s future and lack of diagnosis-specific resources. Many of the parents felt isolated initially but indicated that participating in peer support groups and connecting with other families helped to adapt to the diagnosis.

This study highlights that genetic testing is more than just a medical process – it is an emotional journey for families. While a genetic diagnosis can bring long-awaited answers and relief from uncertainty, it can also create new stresses and unanswered questions. Ongoing genetic counselling, paired with clear and accessible information, can help families process the diagnosis and plan for the future. Just as importantly, connecting with others who share similar experiences provides comfort and reduces the sense of isolation many parents feel.

Reference:

Nevin, S.M., Wakefield, C.E., Barlow‐Stewart, K., McGill, B.C., Bye, A., Palmer, E.E., Dale, R.C., Gill, D., Kothur, K., Boggs, K., Le Marne, F., Beavis, E., Macintosh, R. and Sachdev, R. (2021). Psychosocial impact of genetic testing on parents of children with developmental and epileptic encephalopathy. Developmental Medicine & Child Neurology, 64(1), 95–104. doi:https://doi.org/10.1111/dmcn.14971.