Abstracts

Angelman Syndrome: review of clinical and EEG findings

Abstract number : 2.107
Submission category : 3. Neurophysiology
Year : 2015
Submission ID : 2326590
Source : www.aesnet.org
Presentation date : 12/6/2015 12:00:00 AM
Published date : Nov 13, 2015, 12:43 PM

Authors :
Osama Muthaffar, Berge Minassian

Rationale: Angelman Syndrome (AS) is a neurogenetic disorder that is associated with developmental delay, speech impairment, seizures, microcephaly, inappropriate frequent excitability, laughing and smiling. EEG is one of the important diagnostic tools in AS.Methods: We retrospectively reviewed the charts of 13 patients with genetically confirmed AS. EEG abnormalities were classified according to previously established classifications (Type I, II and III) (Figure 1).Results: Patients were 12 months to 12 years old (mean 6.5 years), 6 were males and 7 females. Of the thirteen patients with AS, 3 (23 %) had no seizures and were not on antiepileptic medications. Patients had multiple types of seizures (including myoclonic seizures, generalized tonic clonic, tonic, absences and others). EEG findings were compatible with types I and III (table 1). Interestingly, five patients (38%) had sleep issues (difficulties in falling asleep and some had frequent awakening), which can be seen in AS patients.Conclusions: AS has a wide spectrum of signs and symptoms. It may not manifest clinically until after 12 months of age. Delta and posterior (delta-theta) EEG types were the commonest finding in our cohort, which is similar to previous studies. EEG abnormalities when observed early can guide physicians to diagnose AS.
Neurophysiology