Open AccessAngelman syndrome in adulthood
Author(s) -
Laan Laura A.E.M.,
den Boer Annemieke Th.,
Hennekam Raoul C.M.,
Renier Willy O.,
Brouwer Oebele F.
Publication year - 1996
Publication title -
american journal of medical genetics
Language(s) - English
Resource type - Journals
eISSN - 1096-8628
pISSN - 0148-7299
DOI - 10.1002/(sici)1096-8628(19961218)66:3<356::aid-ajmg21>3.0.co;2-k
Subject(s) - scoliosis , angelman syndrome , electroencephalography , pediatrics , medicine , epilepsy , audiology , psychology , psychiatry , biology , genetics , gene
We studied the clinical and EEG‐findings in 28 adult patients (aged 20–53 years) with Angelman syndrome (AS). Twenty‐three showed a maternal chromosome 15q11–13 deletion; in 5, the diagnosis was based on a combination of typical clinical findings. Compared to the clinical manifestations present in childhood, “coarsening” of facial traits (100%), thoracic scoliosis (71%), and being wheelchair‐bound (39%) were found more frequently. Paroxysms of laughter were still observed in adulthood (79%), but less frequently than in childhood. Most adult patients could feed themselves, but needed help with many daily activities. The majority (82%) had epileptic seizures. Abnormal EEG‐activity consisting of 2–3/s rhythmic triphasic waves of high amplitude with a maximum over the frontal regions, which has been identified in many AS children, was found in 67% of these adult patients. © 1996 Wiley‐Liss, Inc.