Angelman syndrome: difficulties in EEG pattern recognition and possible misinterpretations. Generic terms were used to simplify the analysis. DP occurred in 22 patients with four variants-hypsarrhythmic-like: irregular, high-amplitude, generalized delta activity DA with multifocal epileptiform discharges EDs ; slow variant: regular, high-amplitude, generalized DA with rare EDs; ill-defined slow spike-and-wave: regular, high-amplitude, generalized DA with superimposed EDs characterizing a slow wave, with notched appearance; triphasic-like: rhythmic, moderate-amplitude DA over anterior regions with superimposed EDs. TP was observed in eight patients, as generalized or over the posterior regions. PDs were seen in 19 patients as runs of sharp waves or runs of high-amplitude slow waves with superimposed EDs.

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Relationship between severity of epilepsy and developmental outcome in Angelman syndrome. Cortical myoclonus in Angelman syndrome. Sedation with dexmedetomidine for conducting electroencephalogram in a patient with Angelman syndrome: Brouwer American journal of medical genetics By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy PolicyTerms of Serviceand Dataset License.

EEG abnormalities are helpful in the diagnosis of AS at an early age. Download this page as a PDF. Skip to search syndromw Skip to main content. The diagnosis is usually obvious clinically after 3 years of age and is sometimes first suggested by the parents. Pediatric Neurology Briefs syndroem, 19 2pp. TP was age related, in patients younger than 8 years, and only in those with maternal chromosome 15qq13 deletions.

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. Neurological aspects of the Angelman syndrome. RenierOebele F. Posterior runs of sharp waves were seen in 19 patients.

Overview of the presentation This presentation was delivered by Chris Patton European Journal of Pediatrics Some individuals may walk with their arms raised and their wrists and elbows flexed. Jump to Discussions Related content. She had dysmorphic and clinical features of AS, and chromosomal analysis revealed a deletion at the 15qll-ql3 region.

Ann Neurol Jul 1: Behavior is often outgoing, hyperactive, hyperexcitable with excessive laughing, grabbing to engage siblings, putting objects in the mouth, and drooling. Start Submission Become a Reviewer. Four variants of the delta pattern were recognized: AS can be caused by various genetic mechanisms involving the chromosome 15q region.

The delta pattern was most specific for AS. 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.

AS patients with a deletion of chromosome 15q have more prominent EEG abnormalities than patients with other angelmn disturbances of the chromosome 15 region.

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The EEG in early diagnosis of the Angelman (happy puppet) syndrome.

CC BY 4. The delta pattern was recorded in 41 EEGs ages from 0. Four variants of the delta pattern were recognized: 1 Hypsarrhythmia-like variant; 2 Slow spike and wave variant; 3 Triphasic-like variant; and 4 Slow variant. Theta pattern TP in 8 patients was generalized or posterior. Posterior runs of sharp waves were seen in 19 patients.


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Treatment[ edit ] Melatonin There is currently no cure available. The epilepsy can be controlled by the use of one or more types of anticonvulsant medications. However, there are difficulties in ascertaining the levels and types of anticonvulsant medications needed to establish control, because people with AS often have multiple types of seizures. Many individuals with Angelman syndrome sleep for a maximum of five hours at any one time[ citation needed ]. Mild laxatives are also used frequently to encourage regular bowel movements[ citation needed ]. Early intervention with physiotherapy is sometimes used to encourage joint mobility and prevent stiffening of the joints. Speech and Language Therapy is commonly employed to assist individuals with Angelman syndrome and their communication issues.

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