title: Seizure frequency in adults with Wolf-Hirschhorn syndrome.
abstract: Epilepsy is a characteristic feature of Wolf-Hirschhorn syndrome (WHS) with onset usually in the first 2 years of life. There have been several reports of epilepsy ceasing as children get older. We have inspected a register of WHS cases from the UK and identified 27 adults with the condition; their mean age was 24.8 years (range 17-40 years). We conducted a telephone survey and asked parents to comment on their experience of seizures in WHS. In 18 patients (66%) a seizure had not occurred within 3 years. The mean age of those who have been seizure free for over 3 years was 23.7 years (range 17-33 years) whereas for those who had a recent seizure their mean age was 27.1 years (range 17-40 years). The mean age of the last seizure for those who were seizure free for 3 years was 11.3 years (range 2-28 years); in the majority of patients, seizures ceased within childhood years. Many parents commented that seizures were precipitated by fever. Individuals with WHS who had a deletion were more likely to be seizure free than those with a translocation. This reached statistical significance: chi(2) = 4.6, P = 0.03, odds ratio = 6.5 (95% CI 1.1-38.6). Data from this survey may be helpful when counseling families with a very young child with WHS.
authors.affiliation: Department of Clinical Genetics, Sheffield Children's Hospital, Sheffield, UK.
authors.forename: Jeanie C
authors.initials: JC
authors.lastname: Worthington
authors.forename: Alan S
authors.initials: AS
authors.lastname: Rigby
authors.forename: Oliver W
authors.initials: OW
authors.lastname: Quarrell
mesh_terms: D000293:Adolescent; D000328:Adult; D003430:Cross-Sectional Studies; D004827:Epilepsy / Q000453:epidemiology / Q000235:genetics* / Q000503:physiopathology*; D006801:Humans; D007407:Interviews as Topic; D012042:Registries; D013577:Syndrome; D006113:United Kingdom / Q000453:epidemiology; D054877:Wolf-Hirschhorn Syndrome / Q000235:genetics*