Ho N, Kroner B, et al. The Journal of Pediatrics, Sep 2018 ahead of print.
Epilepsy is a complex medical condition that goes beyond seizures. For example, mental health, memory, and sleep issues are commonly reported as issues for people living with epilepsy. In addition to seizures, each of these co-conditions can dramatically impact quality of life for the individual and his or her family.
Few studies have examined how these co-occurring conditions impact our rare epilepsy community. It is important to study these issues if we want to fully understand the experience of having a rare epilepsy. Understanding comorbidities can improve overall care and guide conversations with providers about optimal treatments to improve quality of life for families living with a rare epilepsy.
Description of Study
The Rare Epilepsy Network (REN) is a network of people impacted by rare epilepsy and their loved ones. A key component of the REN is a patient registry that collects information about people living with rare epilepsies. Currently, there are over 1,450 individuals enrolled in the registry from across the globe. While some individuals can answer the registry questions themselves, caregivers completed the questions for many others.
Those in the network were surveyed about a wide range of issues from oral/dental and vision problems to mental health and sleep disorders to brain abnormalities and bone disorders.
Summary of Study Findings
- 795 participants represent over 30 different rare epilepsy syndromes responded to the survey.
- Over half of respondents reported five or more chronic conditions in addition to poor seizure control.
- Over two-thirds of respondents reported learning disabilities, mental health issues, and sleep disorders.
- Over one-third to one-half of respondents reported brain abnormalities, muscle tone issues, eye vision disorders, oral issues, and bone problems.
- 97 percent of respondents could be classified as having complex chronic conditions.
- Different rare epilepsies had slightly different issues. The rare epilepsies with the highest number of co-occurring conditions reported were Aicardi Syndrome, Phelan-McDermid Syndrome, and tuberous-sclerosis complex.
- Compared to other epilepsies (either occurring in children or adults), rare epilepsy syndromes have a higher number of co-occurring conditions.
What does this mean?
The REN is spearheaded by the Epilepsy Foundation. It is a partnership between the Foundation, over 30 rare epilepsy organizations, Columbia University, and Research Triangle International (RTI). The network conducts and facilitates research to improve outcomes for people with rare conditions associated with epilepsy and seizures. The goals of REN are to unlock the causes of rare epilepsies, improve diagnosis (avoiding delay and misdiagnosis), improve treatment and quality of life, and find cures.
The survey’s findings suggest that for those diagnosed with a rare epilepsy syndrome, co-occurring conditions should be screened for and considered in diagnosis, management, and multidisciplinary care. Future studies will examine how treatment can impact the outcomes and prognosis of comorbid conditions in people living with rare epilepsy syndromes.
The REN is involved in the Epilepsy Learning Healthcare System, a new initiative of the Epilepsy Foundation. We believe in creating a healthcare system in which we learn from every person with epilepsy and, in turn, improve outcomes for everyone with epilepsy.
For more information about the Rare Epilepsy Network or the Epilepsy Learning Healthcare System, please contact the Director of Clinical Research Dr. Kathleen Farrell (firstname.lastname@example.org).