Angelman syndrome: is there a characteristic EEG? 2005

Laura A E M Laan, and Alla A Vein
Department of Neurology and Clinical Neurophysiology, Leiden University Medical Center, P.O. Box 9600, 2300 RC Leiden, The Netherlands. l.a.e.m.laan.neurology@lumc.nl

Angelman syndrome (AS) is a genetic disorder characterised by severe mental retardation, subtle dysmorphic facial features, a characteristic behavioural phenotype, epileptic seizures and EEG abnormalities. AS can be caused by various genetic mechanisms involving the chromosome 15q11-13 region. Neurophysiological studies report a variety of EEG abnormalities seen in AS patients. The objective of this article was to analyse whether there are characteristic EEG changes in AS, whether this varies with age and what the differential diagnosis is. Most of the authors agree about the existence of three main EEG patterns in AS which may appear in isolation or in various combinations in the same patient. The pattern most frequently observed both in children and in adults has prolonged runs of high amplitude rhythmic 2-3 Hz activity predominantly over the frontal regions with superimposed interictal epileptiform discharges. High amplitude rhythmic 4-6 Hz activity, prominent in the occipital regions, with spikes, which can be facilitated by eye closure, is often seen in children under the age of 12 years. There is no difference in EEG findings in AS patients with or without epileptic seizures. AS patients with a deletion of chromosome 15q11-13 have more prominent EEG abnormalities than patients with other genetic disturbances of the chromosome 15 region. The EEG findings are characteristic of AS when seen in the appropriate clinical context and can help to identify AS patients at an early age when genetic counselling may be particularly important.

UI MeSH Term Description Entries
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D003937 Diagnosis, Differential Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures. Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis
D004569 Electroencephalography Recording of electric currents developed in the brain by means of electrodes applied to the scalp, to the surface of the brain, or placed within the substance of the brain. EEG,Electroencephalogram,Electroencephalograms
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D000367 Age Factors Age as a constituent element or influence contributing to the production of a result. It may be applicable to the cause or the effect of a circumstance. It is used with human or animal concepts but should be differentiated from AGING, a physiological process, and TIME FACTORS which refers only to the passage of time. Age Reporting,Age Factor,Factor, Age,Factors, Age
D017204 Angelman Syndrome A syndrome characterized by multiple abnormalities, MENTAL RETARDATION, and movement disorders. Present usually are skull and other abnormalities, frequent infantile spasms (SPASMS, INFANTILE); easily provoked and prolonged paroxysms of laughter (hence "happy"); jerky puppetlike movements (hence "puppet"); continuous tongue protrusion; motor retardation; ATAXIA; MUSCLE HYPOTONIA; and a peculiar facies. It is associated with maternal deletions of chromosome 15q11-13 and other genetic abnormalities. (From Am J Med Genet 1998 Dec 4;80(4):385-90; Hum Mol Genet 1999 Jan;8(1):129-35) Happy Puppet Syndrome,Puppet Children,Children, Puppet,Syndrome, Angelman,Syndrome, Happy Puppet

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