PARENTAL VIEW OF EPILEPSY IN ANGELMAN-SYNDROME - A QUESTIONNAIRE STUDY

Purpose-To explore parents' opinions and concerns about seizures, anti convulsants, and the effect of treatment in children with Angelman syn drome. Design-A postal questionnaire was sent to members of one of the UK lay groups for Angelman syndrome (ASSERT) who had a child affected by Angelman syndrome. The questionnaire requested general medical inf ormation and information about the epilepsy, its treatment, and treatm ent responses. Results-One hundred and fifty questionnaires were sent out with an ASSERT routine mailing and 78 completed questionnaires wer e returned. Forty three patients were boys and 35 were girls; ages ran ged from 1.7 to 25 years (mean 7.5 years). The overall general clinica l and cytogenetic data were mostly consistent with previous reports. E pilepsy was reported in 68 children, most of whom had a detectable cyt ogenetic deletion. The most common seizure types reported by the famil ies were absence seizures, tonic clonic seizures, drop attacks, and my oclonic seizures; in four patients only febrile seizures occurred. The age at onset of the seizures was < 2 years in more than half of the p atients. Antiepileptic drug treatment with valproate (VPA), clonazepam (CZP), and lamotrigine (LTG) as monotherapy or a combination of VPA a nd CZP or VPA and LTG was more often viewed favourably and considered effective with fewer side effects on the child's behaviour and alertne ss, versus more frequent adverse effects and increased frequency and s everity of seizures with carbamazepine (CBZ) and vigabatrin (VGB) in m onotherapy or in combination with other anti-epileptic drugs. Seizures did tend to improve with age but were still present and disabling at older ages. Conclusions-This is the first study to record parents' opi nions about seizures, anti-epileptic drugs, and treatment responses in children with Angelman syndrome, and it is one of the largest series on epilepsy and Angelman syndrome to be reported to date.