The neurological and diagnostic aspects of Angelman syndrome (AS) are The facial features and general physical examination are generally. Angelman syndrome (AS) is a genetic disorder characterised by severe mental retardation, subtle dysmorphic facial features, a characteristic. An EEG study has been carried out on 19 children (including siblings in 3 families) with clinical features of Angelman syndrome. The age at time of the first EEG.

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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.

Angelman syndrome: is there a characteristic EEG?

Download this page as a PDF. The diagnosis becomes more evident after 1 or 2 years of age, when speech does not develop, walking is impaired by severe ataxia, and seizures occur. The diagnosis is usually obvious clinically after 3 years of age and is sometimes first suggested by the parents. BrothmanCinzia Galasso Pediatrics Citations Publications citing this paper.

Showing of 20 references. Mild Angelman syndrome phenotype due to a mosaic methylation imprinting defect. Brouwer American journal of medical genetics Start Submission Become a Reviewer. Chromosome 15 FISH analysis is necessary to distinguish which mechanism is involved.


Neurologic and EEG Findings in Angelman Syndrome

The severity of developmental disturbance in AS is not invariably related to the severity of epilepsy, although repetitive nonconvulsive status epilepticus can sometimes result feztures transient or permanent mental and motor deterioration. RenierOebele F.

Sedation with dexmedetomidine for conducting electroencephalogram in a patient with Angelman syndrome: Despite high dose antiepileptic medications seizures and hyperpyrexia persisted, with near continuous shaking.

Cortical myoclonus in Angelman syndrome. Myoclonus was accompanied by only muscle activity on EEG and it responded to reserpine and clonazepam. From This Paper Topics from this paper. DNA methylation testing of blood is a sensitive and specific screening for 3 of the 4 genetic mechanisms.

Angelman syndrome: is there a characteristic EEG?

Vagal nerve stimulation for medically refractory epilepsy in Angelman syndrome: AS can be caused by various genetic mechanisms involving the chromosome 15q region.

Four variants of the delta pattern were recognized: She had dysmorphic and clinical features of AS, and chromosomal analysis revealed a deletion at the 15qll-ql3 region.

Published on 01 Sep AS patients with featurfs deletion of chromosome 15q have more prominent EEG abnormalities than patients with other genetic disturbances of the chromosome 15 region. Diagnosis of Angelman syndrome: The clinical diagnostic criteria of AS include impairment of neurologic development, poor or no language acquisition, a characteristic behavioral profile, sometimes termed happy puppet syndrome unprovoked laughter, happy demeanor, hand flapping, hyperactivity, and attention deficit disorderand a wide-based ataxic gait with jerky movements.


Posterior runs of sharp waves were seen in 19 patients. AS patients with a deletion of chromosome 15ql featuers more prominent EEG abnormalities than those with other genetic disorders of chromosome 15 region.

Theta pattern TP in 8 patients was generalized or posterior. Neurological aspects of the Angelman syndrome.

Brain Dev Mar syndeome Subsequently, the ubiquitin ligase gene, UBE3A, located at 15ql1. Facial characteristics of Angelman syndrome may be subtle but sometimes include a small head microcephalypointed chin, wide jaw, widely spaced teeth, protruding tongue and deep set eyes. Jump to Discussions Related content. References Publications referenced by this paper.

A year-old woman was admitted with refractory seizures and episodic hyperpyrexia.

Patton European Journal of Pediatrics Angelman syndrome without sydrome chromosome 15q anomaly: Maternally derived chromosome 15 was implicated inwith microdeletion of 15qll.