Critical incidents, nocturnal supervision, and caregiver knowledge on SUDEP in patients with Dravet syndrome: A prospective multicenter study in Germany.
encephalopathy
epilepsy
near-SUDEP
seizure
Journal
Epilepsia
ISSN: 1528-1167
Titre abrégé: Epilepsia
Pays: United States
ID NLM: 2983306R
Informations de publication
Date de publication:
17 Oct 2023
17 Oct 2023
Historique:
revised:
12
10
2023
received:
07
07
2023
accepted:
12
10
2023
pubmed:
17
10
2023
medline:
17
10
2023
entrez:
17
10
2023
Statut:
aheadofprint
Résumé
The aim was to investigate the monitoring, interventions, and occurrence of critical, potentially life-threatening incidents in patients with Dravet syndrome (DS) and caregivers' knowledge about sudden unexpected death in epilepsy (SUDEP). This multicenter, cross-sectional study of patients with DS and their caregivers in Germany consisted of a questionnaire and prospective diary querying the disease characteristics and demographic data of patients and caregivers. Our analysis included 108 questionnaires and 82 diaries. Patients with DS were 49.1% male (n = 53), with a mean age of 13.5 (SD ± 10.0 years) and primary caregivers were 92.6% (n = 100) female, with a mean age of 44.7 (SD ± 10.6 years). Monitoring devices were used regularly by 75.9% (n = 82) of caregivers, and most monitored daily/nightly. Frequently used devices were pulse oximeters (64.6%), baby monitors (64.6%), thermometers (24.1%), and Epi-Care (26.8%). Younger caregiver and patient age and history of status epilepticus were associated with increased use of monitoring, and 81% of monitor users reported having avoided a critical incident with nocturnal monitoring. The need for resuscitation due to cardiac or respiratory arrest was reported by 22 caregivers (20.4%), and most cases (72.7%) were associated with a seizure. Caregivers reported frequently performing interventions at night, including oropharyngeal suction, oxygenation, personal hygiene, and change of body position. Most caregivers were well informed about SUDEP (n = 102; 94%) and monitored for a lateral or supine body position; however, only 39.8% reported receiving resuscitation training, whereas 52.8% (n = 57) knew what to do in case the child's breathing or heart activity failed. Critical incidents and the need for resuscitation are reported frequently by caregivers and may be related to high mortality and SUDEP rates in DS. Resuscitation training is welcomed by caregivers and should be continuously provided. Oxygen monitoring devices are frequently used and considered useful by caregivers.
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© 2023 The Authors. Epilepsia published by Wiley Periodicals LLC on behalf of International League Against Epilepsy.
Références
Dravet C. The core Dravet syndrome phenotype. Epilepsia. 2011;52(Suppl 2):3-9.
Strzelczyk A, Schubert-Bast S. Therapeutic advances in Dravet syndrome: a targeted literature review. Expert Rev Neurother. 2020;20(10):1065-1079.
Lee J, Lee C, Park WY, Lee J. Genetic diagnosis of Dravet syndrome using next generation sequencing-based epilepsy gene panel testing. Ann Clin Lab Sci. 2020;50(5):625-637.
Depienne C, Trouillard O, Saint-Martin C, Gourfinkel-An I, Bouteiller D, Carpentier W, et al. Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients. J Med Genet. 2009;46(3):183-191.
Mei D, Cetica V, Marini C, Guerrini R. Dravet syndrome as part of the clinical and genetic spectrum of sodium channel epilepsies and encephalopathies. Epilepsia. 2019;60(S3):S2-S7.
Watkins L, Shankar R, Sander JW. Identifying and mitigating sudden unexpected death in epilepsy (SUDEP) risk factors. Expert Rev Neurother. 2018;18(4):265-274.
Strzelczyk A, Schubert-Bast S. A practical guide to the treatment of Dravet syndrome with anti-seizure medication. CNS Drugs. 2022;36(3):217-237.
Connolly MB. Dravet syndrome: diagnosis and long-term course. Can J Neurol Sci. 2016;43(Suppl 3):S3-S8.
Cooper MS, McIntosh A, Crompton DE, McMahon JM, Schneider A, Farrell K, et al. Mortality in Dravet syndrome. Epilepsy Res. 2016;128:43-47.
Kim Y, Bravo E, Thirnbeck CK, Smith-Mellecker LA, Kim SH, Gehlbach BK, et al. Severe peri-ictal respiratory dysfunction is common in Dravet syndrome. J Clin Invest. 2018;128(3):1141-1153.
Wheless JW, Fulton SP, Mudigoudar BD. Dravet syndrome: a review of current management. Pediatr Neurol. 2020;107:28-40.
Wirrell EC, Laux L, Donner E, Jette N, Knupp K, Meskis MA, et al. Optimizing the diagnosis and management of Dravet syndrome: recommendations from a North American consensus panel. Pediatr Neurol. 2017;68:18-34.e13.
Domaradzki J, Walkowiak D. Emotional experiences of family caregivers of children with Dravet syndrome. Epilepsy Behav. 2023;142:109193.
Strzelczyk A, Lagae L, Wilmshurst JM, Brunklaus A, Striano P, Rosenow F, et al. Dravet syndrome: a systematic literature review of the illness burden. Epilepsia Open. 2023; https://doi.org/10.1002/epi4.12832.
von Elm E, Altman DG, Egger M, Pocock SJ, Gøtzsche PC, Vandenbroucke JP. The strengthening the reporting of observational studies in epidemiology (STROBE) statement: guidelines for reporting observational studies. J Clin Epidemiol. 2008;61(4):344-349.
Strzelczyk A, Kalski M, Bast T, Wiemer-Kruel A, Bettendorf U, Kay L, et al. Burden-of-illness and cost-driving factors in Dravet syndrome patients and carers: a prospective, multicenter study from Germany. Eur J Paediatr Neurol. 2019;23(3):392-403.
Makiello P, Feng T, Dunwoody B, Steckler F, Symonds J, Zuberi SM, et al. Comorbidities and predictors of health-related quality of life in Dravet syndrome: a 10-year, prospective follow-up study. Epilepsia. 2023;64(4):1012-1020.
Sakauchi M, Oguni H, Kato I, Osawa M, Hirose S, Kaneko S, et al. Retrospective multiinstitutional study of the prevalence of early death in Dravet syndrome. Epilepsia. 2011;52(6):1144-1149.
Devinsky O, Hesdorffer DC, Thurman DJ, Lhatoo S, Richerson G. Sudden unexpected death in epilepsy: epidemiology, mechanisms, and prevention. Lancet Neurol. 2016;15(10):1075-1088.
Langan Y, Nashef L, Sander JW. Case-control study of SUDEP. Neurology. 2005;64(7):1131-1133.
Nashef L, Fish DR, Garner S, Sander JW, Shorvon SD. Sudden death in epilepsy: a study of incidence in a young cohort with epilepsy and learning difficulty. Epilepsia. 1995;36(12):1187-1194.
Lamberts RJ, Thijs RD, Laffan A, Langan Y, Sander JW. Sudden unexpected death in epilepsy: people with nocturnal seizures may be at highest risk. Epilepsia. 2012;53(2):253-257.
Strzelczyk A, Zschebek G, Bauer S, Baumgartner C, Grond M, Hermsen A, et al. Predictors of and attitudes toward counseling about SUDEP and other epilepsy risk factors among Austrian, German, and Swiss neurologists and neuropediatricians. Epilepsia. 2016;57(4):612-620.
Wadle NE, Schwab C, Seifart C, von Podewils F, Knake S, Willems LM, et al. Prospective, longitudinal, multicenter study on the provision of information regarding sudden unexpected death in epilepsy to adults with epilepsy. Epilepsia. 2023;64(2):406-419.
Wirrell EC, Hood V, Knupp KG, Meskis MA, Nabbout R, Scheffer IE, et al. International consensus on diagnosis and management of Dravet syndrome. Epilepsia. 2022;63(7):1761-1777.
van Nuland A, Ivanenko A, Meskis MA, Villas N, Knupp KG, Berg AT. Sleep in Dravet syndrome: a parent-driven survey. Seizure. 2021;85:102-110.
Villas N, Meskis MA, Goodliffe S. Dravet syndrome: characteristics, comorbidities, and caregiver concerns. Epilepsy Behav. 2017;74:81-86.
Licheni SH, McMahon JM, Schneider AL, Davey MJ, Scheffer IE. Sleep problems in Dravet syndrome: a modifiable comorbidity. Dev Med Child Neurol. 2018;60(2):192-198.
Rugg-Gunn F, Duncan J, Hjalgrim H, Seyal M, Bateman L. From unwitnessed fatality to witnessed rescue: nonpharmacologic interventions in sudden unexpected death in epilepsy. Epilepsia. 2016;57(S1):26-34.
Seyal M, Bateman LM, Li CS. Impact of periictal interventions on respiratory dysfunction, postictal EEG suppression, and postictal immobility. Epilepsia. 2013;54(2):377-382.
Mahr K, Bergmann MP, Kay L, Möller L, Reif PS, Willems LM, et al. Prone, lateral, or supine positioning at seizure onset determines the postictal body position: a multicenter video-EEG monitoring cohort study. Seizure. 2020;76:173-178.
Verheyen K, Wyers L, Lambrecht E, Schoonjans AS, Ceulemans B, van de Walle P, et al. Functional mobility in children and young adults with Dravet syndrome. Dev Med Child Neurol. 2023;65:1343-1356.
Liebenthal JA, Wu S, Rose S, Ebersole JS, Tao JX. Association of prone position with sudden unexpected death in epilepsy. Neurology. 2015;84(7):703-709.