Outcomes and comorbidities of SCN1A-related seizure disorders

Autor: Bobby P. C. Koeleman, Nine V A M Knoers, Eva H. Brilstra, Marjan J. A. van Kempen, Iris M de Lange, Lisette J. J. M. van Gemert, Claudia Sinoo, Nienke E. Verbeek, Anja C M Sonsma, Boudewijn Gunning, Joost Nicolai
Přispěvatelé: RS: MHeNs - R1 - Cognitive Neuropsychiatry and Clinical Neuroscience, Klinische Neurowetenschappen, MUMC+: MA Med Staf Spec Neurologie (9)
Jazyk: angličtina
Rok vydání: 2019
Předmět:
Male
Pediatrics
GEFS
DRAVET-SYNDROME
Epilepsies
Myoclonic
CBCL
CHILDREN
Comorbidity
VARIANTS
Dravet
spectrum
Comorbidities
Cohort Studies
Behavioral Neuroscience
Epilepsy
0302 clinical medicine
Quality of life
QUALITY-OF-LIFE
Surveys and Questionnaires
REDUCED SODIUM CURRENT
030212 general & internal medicine
SCN1A
Child
MUTATION
SCN1A GENE
education.field_of_study
SEVERE MYOCLONIC EPILEPSY
Medical record
Middle Aged
Treatment Outcome
Neurology
Child
Preschool
Cohort
Female
Spasms
Infantile
Adult
GEFS+
medicine.medical_specialty
Adolescent
Population
Behavioral problems
Affect (psychology)
Seizures
Febrile
Young Adult
03 medical and health sciences
Dravet syndrome
medicine
Journal Article
Humans
education
Aged
Retrospective Studies
business.industry
behavior
medicine.disease
NAV1.1 Voltage-Gated Sodium Channel
Cross-Sectional Studies
Quality of Life
Neurology (clinical)
business
Epileptic Syndromes
030217 neurology & neurosurgery
Zdroj: Epilepsy & Behavior, 90, 252-259. Elsevier Science
Epilepsy & Behavior, 90, 252-259. ACADEMIC PRESS INC ELSEVIER SCIENCE
Epilepsy & Behavior, 90, 252. Academic Press Inc.
ISSN: 1525-5050
DOI: 10.1016/j.yebeh.2018.09.041
Popis: Purpose: Differentiating between Dravet syndrome and non-Dravet SCN1A-related phenotypes is important for prognosis regarding epilepsy severity, cognitive development, and comorbidities. When a child is diagnosed with genetic epilepsy with febrile seizures plus (GEFS+) or febrile seizures (FS), accurate prognostic information is essential as well, but detailed information on seizure course, seizure freedom, medication use, and comorbidities is lacking for this milder patient group. In this cross-sectional study, we explore disease characteristics in milder SCNTA-related phenotypes and the nature, occurrence, and relationships of SCN1A-related comorbidities in both patients with Dravet and non-Dravet syndromes.Methods: A cohort of 164 Dutch participants with SCN1A-related seizures was evaluated, consisting of 116 patients with Dravet syndrome and 48 patients with either GEFS+, febrile seizures plus (FS+), or FS. Clinical data were collected from medical records, semi-structured telephone interviews, and three questionnaires: the Functional Mobility Scale (FMS), the Pediatric Quality of Life Inventory (PedsQL) Measurement Model, and the Child or Adult Behavior Checklists (CBCL/ABCL).Results: Walking disabilities and severe behavioral problems affect 71% and 43% of patients with Dravet syndrome respectively and are almost never present in patients with non-Dravet syndromes. These comorbidities are strongly correlated to lower quality-of-life (QoL) scores. Less severe comorbidities occur in patients with non-Dravet syndromes: learning problems and psychological/behavioral problems are reported for 27% and 38% respectively. The average QoL score of the non-Dravet group was comparable with that of the general population. The majority of patients with non-Dravet syndromes becomes seizure-free after 10 years of age (85%).Conclusions: Severe behavioral problems and walking disabilities are common in patients with Dravet syndrome and should receive specific attention during clinical management. Although the epilepsy course of patients with non-Dravet syndromes is much more favorable, milder comorbidities frequently occur in this group as well. Our results may be of great value for clinical care and informing newly diagnosed patient and their parents about prognosis. (C) 2018 The Authors. Published by Elsevier Inc.
Databáze: OpenAIRE
Externí odkaz: