Photosensitivity as a Marker of Genetic Aetiology in Infantile Spasms
Abstract number :
1.211
Submission category :
4. Clinical Epilepsy / 4B. Clinical Diagnosis
Year :
2022
Submission ID :
2204851
Source :
www.aesnet.org
Presentation date :
12/3/2022 12:00:00 PM
Published date :
Nov 22, 2022, 05:26 AM
Authors :
Marvin Braun, MD, PhD, MSc – Janet Weiss Children's Hospital, Geisinger Medical Center; Michael Esser, MD – Alberta Children's Hospital; Julia Jacobs, Pediatric Neurologist – Alberta Children's Hospital; Morris Scantlebury, MD – Alberta Children's Hospital
Rationale: Infantile spasms (IS) are a severe yet relatively common form of epileptic encephalopathy in infants. Early diagnosis leading to appropriate treatment is crucial in maximizing outcome. However, in children with genetic etiologies of IS, there is often a significant delay in diagnosis and management. Photosensitivity (PS), or an abnormal excitatory cortical response to light stimulation, is a genetically influenced phenomenon occurring most commonly in patients with genetic epilepsies, however, the prevalence of PS in IS is unknown.
Methods: We performed a retrospective review of 42 patients with IS between the ages of 1 and 2 years old to assess both the prevalence of photosensitivity in that syndrome and if there was any association with genetic aetiologies.
Results: Seven of the patients in the study population had single gene mutations not associated with structural abnormalities. All seven patients demonstrated photosensitivity during intermittent photic stimulation, indicative of a very strong association of photosensitivity with single gene aetiologies of infantile spasms.
Conclusions: These findings suggest that intermittent photic stimulation should become a routine part of IS screening, as the presence of photosensitivity would strongly suggest a genetic etiology, with implications for the work-up and management of these patients.
Funding: Robert Haslam Fellowship in Pediatric Neurology
Clinical Epilepsy