Document Detail

Angelman syndrome in adulthood.
MedLine Citation:
PMID:  9072912     Owner:  NLM     Status:  MEDLINE    
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.
L A Laan; A T den Boer; R C Hennekam; W O Renier; O F Brouwer
Publication Detail:
Type:  Journal Article; Multicenter Study    
Journal Detail:
Title:  American journal of medical genetics     Volume:  66     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1996 Dec 
Date Detail:
Created Date:  1997-03-21     Completed Date:  1997-03-21     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  356-60     Citation Subset:  IM    
Departmentn of Neurology, Leiden University Hospital, The Netherlands.
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MeSH Terms
Angelman Syndrome* / genetics,  physiopathology
Chromosome Deletion
Chromosomes, Human, Pair 15 / genetics
Middle Aged

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