Epilepsy Characteristics in 79 Patients with Aicardi Syndrome
Abstract number :
1.159
Submission category :
Year :
2001
Submission ID :
2812
Source :
www.aesnet.org
Presentation date :
12/1/2001 12:00:00 AM
Published date :
Dec 1, 2001, 06:00 AM
Authors :
T. Rosser, MD, Neurology, Children[ssquote]s National Medical Center, Washington, DC; M.T. Acosta, MD, Neurology, Children[ssquote]s National Medical Center, Washington, DC; P.L. Pearl, MD, Neurology, Children[ssquote]s National Medical Center, Washington
RATIONALE: Aicardi Syndrome is a rare X-linked condition characterized by infantile spasms, agenesis of the corpus callosum, and chorioretinal lacunae. While most patients are low functioning developmentally with intractable epilepsy, an increasingly wide range of clinical involvement has been noted. We report on the epilepsy and developmental characteristics of our large database of patients with Aicardi syndrome.
METHODS: We reviewed the seizure frequency, classification, anticonvulsant use, and developmental milestones of 79 patients based on data from the Aicardi Syndrome Foundation[ssquote]s compilation of family-based, self-report questionnaires plus patients from our clinical practice.
RESULTS: Patient ages ranged from 1 to 25 years (mean 7.2 yr). Active seizures were reported in 79% of patients, occurring daily in 67.5%. Infantile spasms were the most common seizure type, but multiple other seizure types were reported (myoclonic 11%, generalized tonic clonic 10%, atypical absence 5%, atonic 5%, focal 2%, mixed 79%). Anticonvulsants currently used are: valproic acid, phenytoin, phenobarbital, carbamazepine, oxcarbazepine, topiramate, gabapentin, lamotrigine, tiagabine, felbamate, vigabatrin, clonazepam, zonisamide, nitrazepam, clorazepate, and ACTH. 69% of patients were taking 2 or more anticonvulsants. Topiramate and valproic acid were the most frequently prescribed anticonvulsants, used in 37.6% and 26 %, respectively; 2 patients were on the ketogenic diet. Vagus nerve stimulator was used as adjuvant in 5 patients. One patient underwent hemispherectomy, is tapering off tiagabine, and remains seizure-free over two years. All patients were significantly developmentally delayed with milestones ranging from 2-36 months (average developmental quotient of 10, range 3-50). 83% of patients attained milestones no higher than 12 months.
CONCLUSIONS: 1) Most patients with Aicardi syndrome continue to have intractable epilepsy independent of treatment; 2) A wide range of all available anticonvulsants are utilized in this population with the majority of patients on polytherapy; 3) Epilepsy surgical options, such as the vagus nerve stimulator and hemispherectomy, should be considered; 4) Most patients are profoundly developmentally impaired but a small proportion has developmental quotients up to 50.