Retrospective clinical study of 8 cases with Angelman syndrome

Abstract

Objective To explore the clinical and electroencephalogram(EEG) characteristics, genetic data and the effect of ketogenic diet(KD) for children with Angelman syndrome(AS). Methods The clinical and EEG characteristics of 8 patients with AS at the Department of Neurology, Children's Hospital of Fudan University from Jan.2012 to Dec.2013 were analyzed retrospectively.The treatment and prognosis were also followed up. Results Of 8 patients, there were 4 male and 4 female.All patients(100%) had apparently happy demeanor or smile, general developmental delay and movement disorder, and head circumference of 4 patients was smaller or microcephaly diagnosed.Epilepsy was present in 7 cases(88%) with onset age from 6 to 33 months.Most frequent types were myoclonic seizures, atypical absences, atonic seizures and generalized tonic-clonic seizures.Myoclonic status epilepticus was present in 4 cases(57%). Rhythmic delta and theta in the anterior, the posterior and the generalized areas mixing with spikes and ware waves were the characteristic EEG patterns.Genetic testing by methylation specificity multiple link probe amplification techniques(MS-MLPA)was done for all patients, 6 cases(75%) were confirmed with a maternal deletion involving the chromosome 15q11PWS/AS critical region.Seven patients were treated with multiple antiepileptic drugs, while 6 patients(86%) belonged to refractory epilepsy.Three cases were treated with KD, 1 month after KD, seizure improved effectively in 2 cases, but 1 case had no improvement, 3 months after KD, 1 case got seizure free, and 1 case had seizure reduced effectively, while 1 case with seizure had no improvement. Conclusions There are relative and characteristic EEG manifestations clinically in AS and the diagnosis can be assisted by genetic test.Epilepsy is common and myoclo-nic status epilepticus is also frequent in AS.Epilepsy in AS is often hard to control but KD can be used as a treatment option for AS with refractory epilepsy. Key words: Angelman syndrome; Epilepsy; Electroencephalogram; Ketogenic diet