Abstracts

How Do We Diagnose and Treat Epilepsy with Myoclonic-Atonic Seizures (Doose Syndrome)?

Abstract number : 1.165
Submission category : 4. Clinical Epilepsy / 4B. Clinical Diagnosis
Year : 2016
Submission ID : 191561
Source : www.aesnet.org
Presentation date : 12/3/2016 12:00:00 AM
Published date : Nov 21, 2016, 18:00 PM

Authors :
Katherine C. Nickels, Mayo Clinic Rochester; Scott Demarest, University of Colorado School of Medicine, Children's Hospital Colorado, Colorado; Elaine Wirrell, Mayo Clinic Rochester; Eric Kossoff, Johns Hopkins University; Charuta Joshi, University of Iow

Rationale: Epilepsy with Myoclonic-Atonic Seizures (MAE) presents in early childhood when otherwise normal children develop multiple types of generalized seizures with concurrent emergence of developmental plateauing and cognitive impairment. While myoclonic-atonic are most characteristic, other generalized seizures and non-convulsive status epilepticus are common. Children with this syndrome are often misdiagnosed with Lennox-Gastaut syndrome (LGS). Unlike LGS, the long term cognitive outcome, especially if seizure control is achieved early, can be favorable. Despite this, there is no consensus for diagnosis and treatment of MAE. Therefore, the objective of this study was to assess the diagnostic and treatment practices of MAE by members of the Pediatric Epilepsy Research Consortium (PERC). Methods: The MAE focus group of PERC compiled a survey requesting physicians' opinions regarding the importance of specific diagnostic and exclusion criteria, investigations, and recommended treatments for MAE. The survey was sent to members of PERC and the American Epilepsy Society (AES). Responses were recorded according to a 4-6 point Likert scale. Results: Thirty-nine child and adolescent neurologists responded, 37 of whom were epilepsy subspecialists. There was considerable variability among providers regarding multiple aspects of diagnosis and management, including those for which the International League Against Epilepsy (ILAE) provides guidelines. According to the ILAE, all children with MAE have myoclonic-atonic seizures, normal development prior to seizure onset, and normal neuroimaging. Findings concerning for glucose transporter disorders, focal seizures, and epileptic spasms are exclusionary. As expected, survey respondents indicated that it was important/essential to record myoclonic-atonic seizures (79%) or have a history suggestive thereof (90%). Furthermore, 89% of providers almost always obtain MRI, but normal neuroimaging was indicated to be very important/essential for diagnosis by only 64%. Low cerebrospinal fluid (CSF) glucose was felt to be very important/exclusionary from diagnosis by 64% and is investigated routinely by only 59%. Focal seizures and epileptic spasms were felt to be very important/exclusionary by 38% and 59%, respectively. Finally, only 41% of respondents considered a history of developmental delay prior to seizure onset to be very important/exclusionary. There was more consensus among providers regarding preferred and contraindicated therapies. Treatments used as first or second choice included valproic acid (67%), levetiracetam (41%), ketogenic diet (38%), and benzodiazepines (35%). More than 85% of respondents indicated that the following medications should not be prescribed for children with MAE: carbamazepine, eslicarbazepine, oxcarbazepine, ezogabine, phenytoin, and tiagabine. Conclusions: There is considerable variability among pediatric epilepsy physicians regarding diagnostic/exclusionary criteria for MAE, even for the criteria which the ILAE has deemed essential for syndrome classification. There is also variability, but increased consensus, for preferred initial treatments and contraindicated therapies. Further study is necessary to refine the recommended diagnostic criteria and evaluation, as well as preferred management of this potentially treatable childhood onset epileptic encephalopathy. Funding: This work was completed on behalf of PERC.
Clinical Epilepsy