Electrical Status Epilepticus of Sleep and Development in Individuals with Mowat-wilson Syndrome
Abstract number :
1.305
Submission category :
4. Clinical Epilepsy / 4A. Classification and Syndromes
Year :
2024
Submission ID :
1303
Source :
www.aesnet.org
Presentation date :
12/7/2024 12:00:00 AM
Published date :
Authors :
Presenting Author: Rachel Weaver, M.S – Children National hospital
Mongkol Chanvanichtrakool, MD – Mahidol university
Taylor Haughton, MS – Children National hospital
Madison Berl, PhD – Children's National Hospital
John Schreiber, MD – Children’s National Hospital, George Washington University School of Medicine & Health Sciences, Washington, DC
Rationale: Mowat-Wilson Syndrome (MWS) is caused by pathogenic mutations or deletions of the ZEB2 gene. Affected individuals commonly experience seizures and about one third develop electrical status epilepticus of sleep (ESES), typically between five and 13 years old. However, it remains unknown the impact of ESES on people with MWS. This study examines development in MWS and any association with ESES.
Methods: Individuals diagnosed with MWS with genetically-confirmed MWS and who had an EEG including sleep were enrolled in this study between 2022 and 2024. Caregivers completed two developmental assessments: 1) a survey documenting ages at which various salient CDC developmental milestones were achieved, to document developmental trajectory over time, and 2) the Vineland Adaptive Behavior Scales Assessment, 3rd edition (VABS-3) interview remotely, to provide a detailed measure of current adaptive functioning. We defined ESES as electrical status epilepticus of sleep, a rare finding associated with acquired epileptic aphasia and related forms of developmental regression.
Results: Twenty-seven caregivers with children diagnosed with MWS completed both developmental assessments, with a median age of 7 (IQR 3-14) years. Seven children had been diagnosed with ESES. Overall, median standardized VABS-3 composite score was 43 (IQR 33-56). Domain scores were 29 (IQR 20-40), 44 (IQR 20-58), 56 (44-73), and 48 (20-68) for communication, daily living skills, socialization, and motor skills, respectively. There were no significant differences between children with and without ESES for VABS-3 composite or domain scores. Similarly, there were no significant differences in the proportion of expected milestones achieved by age in subjects with and without ESES.
Conclusions: Individuals with MWS are well below age expectations in adaptive functioning with particular challenges in the communication domain. Equipped with this knowledge, health care professionals can better guide appropriate therapies/ interventions, such as early use of augmentative and alternative communication devices. Given that these children are functioning at the lowest levels for age, it is possible that any impact of ESES is not detectable due to floor effects of these measures. Future studies might utilize different measures or have include more children with ESES to truly determine if ESES confers greater risk of impairment.
Funding: This study was funded by the Mowat-Wilson Syndrome Foundation.
Clinical Epilepsy