March 14, 2022

CHOP Study Suggests New Method for Measuring Quality of Life in Children with Severe Epilepsies

Article published by CHOP News

Researchers from the Epilepsy Neurogenetics Initiative (ENGIN) at Children’s Hospital of Philadelphia (CHOP) found that assessing the days children are minimally impacted by seizures may be a more appropriate method of evaluating severe childhood epilepsies than measuring seizure frequency alone when determining a patient’s quality of life. The findings were published online by the journal Developmental Medicine and Child Neurology.

Developmental and epileptic encephalopathies (DEEs) are a group of severe epilepsies that frequently begin in childhood and significantly impact health and wellbeing. Many of these result in therapy-resistant seizures in addition to other neurological symptoms and medical problems. A significant proportion of severe DEE have a genetic basis.

For this study, CHOP researchers worked with patient advocacy organizations and developed a novel questionnaire that was distributed to primary caregivers of patients with genetic epilepsies. The questionnaire addressed 89 items including demographic characteristics, genetic diagnosis, clinical features and quality of life. A total of 176 responses were received and covered a variety of genetic diagnoses such as mutations of the SCN1A, KCNQ2, and SLC6A1 genes, which result in some of the most common genetic epilepsies in children.

The researchers found that quality of life scores were strongly associated with the number of days minimally disrupted by seizures rather than seizure frequency alone. Cohen and collaborators also found associations with medication side effects, genetic diagnosis, and whether the patients lived in rural or urban communities. Individuals in this study had significantly lower quality of life scores than those with Rett syndrome, cerebral palsy, autism spectrum disorder, and Down syndrome, highlighting the more severe impact of genetic epilepsies on quality of life compared to other neurodevelopmental disorders.

Ultimately, the researchers found that there was a lack of association between quality of life and reported seizure frequency, which suggests the need to re-evaluate how disease severity is measured in DEEs and genetic epilepsies in a way that is more useful in both present day patient care and future precision medicine clinical trials.