Angelman syndrome in adulthood.
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.
Laan
L A
LA
Departmentn of Neurology, Leiden University Hospital, The Netherlands.
den Boer
A T
AT
Hennekam
R C
RC
Renier
W O
WO
Brouwer
O F
OF
D000328:Adult; D017204:Angelman Syndrome / Q000235:genetics / Q000503:physiopathology; D002648:Child; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D004827:Epilepsy; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged