Angelman syndrome in adulthood

✍ Scribed by Laan, Laura A.E.M.; den Boer, Annemieke Th.; Hennekam, Raoul C.M.; Renier, Willy O.; Brouwer, Oebele F.

• Publisher: John Wiley and Sons
• Year: 1996
• Tongue: English
• Weight: 527 KB
• Volume: 66
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/(sici)1096-8628(19961218)66:3<356::aid-ajmg21>3.0.co;2-k

✦ Synopsis

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.