title: Angelman syndrome: are the estimates too low?
abstract: More than 300 cases of Angelman Syndrome (AS) have been reported. AS is still considered a clinical diagnosis because only approximately 80% of those individuals who meet the clinical criteria will have a maternal deletion of chromosome 15q11-13. Of the reported cases of AS, very few are of adults with AS. We present our findings on 11 adults with AS identified in a long-term residential care facility for persons with severe developmental disabilities. The diagnosis of AS was not recognized at the time of their admission but was established as part of our evaluation. Thus, there may be an underestimate of the true incidence of AS especially in adults with severe developmental disabilities.
authors.affiliation: Center for Human Development and Disability, University of Washington, Seattle 98195-7920, USA.
authors.forename: R H
authors.initials: RH
authors.lastname: Buckley
authors.forename: N
authors.initials: N
authors.lastname: Dinno
authors.forename: P
authors.initials: P
authors.lastname: Weber
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D017204:Angelman Syndrome / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D002386:Cataract; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D003863:Depression; D002658:Developmental Disabilities; D004569:Electroencephalography; D005260:Female; D005767:Gastrointestinal Diseases; D006331:Heart Diseases; D006801:Humans; D015994:Incidence; D008607:Intellectual Disability; D008297:Male; D008875:Middle Aged; D012112:Residential Facilities; D012640:Seizures; D014861:Washington / Q000453:epidemiology