How do we diagnose and treat epilepsy with myoclonic-atonic seizures (Doose syndrome)? Results of the Pediatric Epilepsy Research Consortium survey

Katherine Nickels; Ronald Thibert; Stephanie Rau; Scott Demarest; Elaine Wirrell; Eric H Kossoff; Charuta Joshi; Srishti Nangia; Renee Shellhaas; Pediatric Epilepsy Research Consortium

doi:10.1016/j.eplepsyres.2018.04.010

How do we diagnose and treat epilepsy with myoclonic-atonic seizures (Doose syndrome)? Results of the Pediatric Epilepsy Research Consortium survey

Epilepsy Res. 2018 Aug:144:14-19. doi: 10.1016/j.eplepsyres.2018.04.010. Epub 2018 Apr 25.

Authors

Katherine Nickels¹, Ronald Thibert², Stephanie Rau³, Scott Demarest⁴, Elaine Wirrell⁵, Eric H Kossoff⁶, Charuta Joshi⁷, Srishti Nangia⁸, Renee Shellhaas⁹; Pediatric Epilepsy Research Consortium

Affiliations

¹ Divisions of Pediatric Neurology and Epilepsy, Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA. Electronic address: Nickels.katherine@mayo.edu.
² Department of Neurology, Massachusetts General Hospital, Harvard Medical School, 175 Cambridge Street, Suite 340, Boston, MA 02114-2796, USA. Electronic address: RTHIBERT@mgh.harvard.edu.
³ Division of Pediatric Neurology, Department of Pediatrics, University of Michigan, Floor 6 Reception C, 1540 E. Hospital Dr. SPC 4234, Ann Arbor, MI 48109-4234, USA. Electronic address: shatchew@med.umich.edu.
⁴ Departments of Pediatrics and Neurology, School of Medicine, University of Colorado Anschutz Medical Campus, 13123 East 16th Ave, Aurora, CO 80045, USA. Electronic address: Scott.Demarest@childrenscolorado.org.
⁵ Divisions of Pediatric Neurology and Epilepsy, Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA. Electronic address: Wirrell.elaine@mayo.edu.
⁶ Department of Neurology and Pediatrics, Johns Hopkins University School of Medicine, 601N. Caroline St., Baltimore, MD 21287, USA.
⁷ Departments of Pediatrics and Neurology, School of Medicine, University of Colorado Anschutz Medical Campus, 13123 East 16th Ave, Aurora, CO 80045, USA. Electronic address: Charuta.Joshi@childrenscolorado.org.
⁸ Department of Pediatrics, Division of Child Neurology, Weill Cornell Medical College, 505 East 70th St., Helmsley Tower, 3rd Floor, New York, NY 10021, USA. Electronic address: srn9001@med.cornell.edu.
⁹ Division of Pediatric Neurology, Department of Pediatrics, University of Michigan, Floor 6 Reception C, 1540 E. Hospital Dr. SPC 4234, Ann Arbor, MI 48109-4234, USA. Electronic address: shellhaa@med.umich.edu.

PMID: 29729532
DOI: 10.1016/j.eplepsyres.2018.04.010

Abstract

Objective: To obtain and assess opinions on EMAS diagnostic criteria, recommended investigations, and therapeutic options, from a large group of physicians who care for children with EMAS.

Methods: The EMAS focus group of PERC created a survey to assess the opinions of pediatric neurologists who care for children with EMAS regarding diagnosis and treatment of this condition, which was sent to members of PERC, AES, and CNS. A Likert scale was used to assess the respondents' opinions on the importance of diagnostic and exclusion criteria (five point scale), investigations (four point scale), and treatment (six point scale) of EMAS. Inclusion/exclusion criteria were then classified as critical, strong, or modest. Investigations were classified as essential, recommended, or possible. Therapies were classified as first line, beneficial, indeterminate benefit, or contraindicated.

Results: Survey results from the 76 participants determined the following: EMAS inclusion criteria: history suggestive of MAS (critical), recorded or home video suggestive of MAS, generalized discharges on inter-ictal EEG, normal neuroimaging, normal development prior to seizure onset (strong). EMAS exclusionary criteria: epileptic spasms, abnormal neuroimaging, focal abnormal exam, seizure onset <six months or >six years (strong).

Recommended investigations: EEG and MRI (essential), amino acids, organic acids, fatty acid/acylcarnitine profile, microarray, genetic panel, lactate/pyruvate, CSF and serum glucose/lactate (strong).

Recommended treatments: Valproic acid (first line), topiramate, zonisamide, levetiracetam, benzodiazepines, and dietary therapies (beneficial).

Significance: To date, no similar surveys have been published, even though early syndrome identification and initiation of effective treatment have been associated with improved outcome in EMAS. Medications that exacerbate seizures in EMAS have also been identified. This survey identified critical and preferred diagnostic electro clinical features, investigations, and treatments for EMAS. It will guide future research and is a crucial first step in defining specific diagnostic criteria, recommended evaluation, and most effective therapies for EMAS.

Keywords: Doose; EMAS; Epileptic encephalopathy; Evaluation; Treatment.

MeSH terms

Adolescent
Advisory Committees
Anticonvulsants
Child
Child, Preschool
Cognition Disorders / drug therapy
Cognition Disorders / etiology
Disease Management*
Electroencephalography
Epilepsies, Myoclonic / complications
Epilepsies, Myoclonic / diagnosis*
Epilepsies, Myoclonic / therapy*
Epilepsy / etiology
Female
Health Surveys*
Humans
Male

Substances

Anticonvulsants