Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome.
Adolescent
Adult
Age of Onset
Child
Child, Preschool
Electroencephalography
Epilepsy
/ diagnosis
Female
Genetic Diseases, Inborn
/ complications
Humans
Infant
Male
Matrix Attachment Region Binding Proteins
/ genetics
Nervous System Malformations
/ diagnosis
Retrospective Studies
Sleep Stages
/ physiology
Sleep Wake Disorders
/ diagnosis
Syndrome
Transcription Factors
/ genetics
Young Adult
Electroencephalography
Epilepsy
Glass syndrome
SATB2
Seizure semiology
Journal
Pediatric neurology
ISSN: 1873-5150
Titre abrégé: Pediatr Neurol
Pays: United States
ID NLM: 8508183
Informations de publication
Date de publication:
11 2020
11 2020
Historique:
received:
03
03
2020
revised:
01
04
2020
accepted:
04
04
2020
pubmed:
25
5
2020
medline:
24
8
2021
entrez:
25
5
2020
Statut:
ppublish
Résumé
Seizures are an under-reported feature of the SATB2-associated syndrome phenotype. We describe the electroencephalographic findings and seizure semiology and treatment in a population of individuals with SATB2-associated syndrome. We performed a retrospective review of 101 individuals with SATB2-associated syndrome who were reported to have had a previous electroencephalographic study to identify those who had at least one reported abnormal result. For completeness, a supplemental survey was distributed to the caregivers and input from the treating neurologist was obtained whenever possible. Forty-one subjects were identified as having at least one prior abnormal electroencephalography. Thirty-eight individuals (93%) had epileptiform discharges, 28 (74%) with central localization. Sleep stages were included as part of the electroencephalographies performed in 31 individuals (76%), and epileptiform activity was recorded during sleep in all instances (100%). Definite clinical seizures were diagnosed in 17 individuals (42%) with a mean age of onset of 3.2 years (four months to six years), and focal seizures were the most common type of seizure observed (42%). Six subjects with definite clinical seizures needed polytherapy (35%). Delayed myelination and/or abnormal white matter hyperintensities were seen on neuroimaging in 19 individuals (61%). Epileptiform abnormalities are commonly seen in individuals with SATB2-associated syndrome. A baseline electroencephalography that preferably includes sleep stages is recommended during the initial evaluation of all individuals with SATB2-associated syndrome, regardless of clinical suspicion of epilepsy.
Sections du résumé
BACKGROUND
Seizures are an under-reported feature of the SATB2-associated syndrome phenotype. We describe the electroencephalographic findings and seizure semiology and treatment in a population of individuals with SATB2-associated syndrome.
METHODS
We performed a retrospective review of 101 individuals with SATB2-associated syndrome who were reported to have had a previous electroencephalographic study to identify those who had at least one reported abnormal result. For completeness, a supplemental survey was distributed to the caregivers and input from the treating neurologist was obtained whenever possible.
RESULTS
Forty-one subjects were identified as having at least one prior abnormal electroencephalography. Thirty-eight individuals (93%) had epileptiform discharges, 28 (74%) with central localization. Sleep stages were included as part of the electroencephalographies performed in 31 individuals (76%), and epileptiform activity was recorded during sleep in all instances (100%). Definite clinical seizures were diagnosed in 17 individuals (42%) with a mean age of onset of 3.2 years (four months to six years), and focal seizures were the most common type of seizure observed (42%). Six subjects with definite clinical seizures needed polytherapy (35%). Delayed myelination and/or abnormal white matter hyperintensities were seen on neuroimaging in 19 individuals (61%).
CONCLUSIONS
Epileptiform abnormalities are commonly seen in individuals with SATB2-associated syndrome. A baseline electroencephalography that preferably includes sleep stages is recommended during the initial evaluation of all individuals with SATB2-associated syndrome, regardless of clinical suspicion of epilepsy.
Identifiants
pubmed: 32446642
pii: S0887-8994(20)30122-3
doi: 10.1016/j.pediatrneurol.2020.04.006
pii:
doi:
Substances chimiques
Matrix Attachment Region Binding Proteins
0
SATB2 protein, human
0
Transcription Factors
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
94-100Informations de copyright
Copyright © 2020 Elsevier Inc. All rights reserved.