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Revision as of 20:42, 31 August 2011
Angelman Syndrome
Introduction
Angelman syndrome (AS) is a rare neurogenetic disorder, first described by Harry Angelman in 1956.
It is caused by maternal allele disruptions of a single gene-UBE3A. Either mutations or deletions of UBE3A are liable for a variety of symptoms.
Delayed development, seizures, motion malfunction, impairment of speech and a happy demeanor are the most frequent ones.[1] [2] [3]
The syndrome is sometimes incorrectly referred to as "happy puppet" syndrome, due to frequent laughter and excitement. [4]
About 1 in 25,000 newborn babies are affected by this disorder. There appears to be no discrepancy in males and females affected by it, and persons with the syndrome have a normal life span. [5] [6]
Up to now there is no cure for the syndrome, and current research does rather focus at improving life quality of patients with Angelman syndrome, than finding a cure. [7]
History
Timeline
Incidence
Aetiology
Pathophysiology
Symptoms
Angelman syndrome causes a variety of symptoms, and the presented symptoms may vary at different ages. [8]
In 1995 Williams et al embraced the observed clinical features of AS in a consensus statement, in order to present an appliance for clinicians.
These diagnostic criteria were updated in 2005. [9]
Angelman Syndrome individuals show the most distinct disease pattern from 2 to 16 years of age. In most cases at least 8 of the symptom traits are showen. [10]
4 characteristics appear in 100% of the cases:
Delayed development: becoming apperant by the age of 6 to 12 months. [11]
Motion and or balance malfunction
Behavior patterns like unmotivated laughter, frequent excitement; often including body movements, Hypermotoric behavior
Impairment of speech
3 characteristics appear in more than 80% of the cases:
Abnormalities in head circumference, microcephaly
Seizures
EEG shows specific pattern
Furthermore, there is a range of major and minor traits in patients with Angelman Syndrome:[12]
Physical appearance
Behavioural appearance
Differences between patients with deletions and mutations
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Diagnosis
Prognosis
Treatment
Management
Current and Future Research
Glossary
allele
deletion
disorder
mutation
neurogenetic: genetic basis of the nervous system
seizure
syndrome
References
- ↑ http://www.ncbi.nlm.nih.gov/pubmed/21592595
- ↑ http://www.ncbi.nlm.nih.gov/pubmed/21484597
- ↑ http://www.angelmansyndrome.org/home.html
- ↑ http://www.ncbi.nlm.nih.gov/books/NBK22221/
- ↑ http://www.angelmansyndrome.org/home.html
- ↑ http://www.ncbi.nlm.nih.gov/pubmed/14510623
- ↑ http://www.bbc.co.uk/health/physical_health/conditions/angelman1.shtml
- ↑ http://www.ncbi.nlm.nih.gov/pubmed?term=Clinical%20Profile%20of%20Angelman%20Syndrome%20at%20Different%20Ages
- ↑ http://www.ncbi.nlm.nih.gov/pubmed?term=Conference%20Report%20Angelman%20Syndrome%202005%3A%20Updated%20Consensus%20for%20Diagnostic%20Criteria
- ↑ http://www.ncbi.nlm.nih.gov/pubmed?term=Clinical%20profile%20of%20Angelman%20syndrome%20at%20different%20ages
- ↑ http://www.ncbi.nlm.nih.gov/pubmed/14510623
- ↑ http://www.ncbi.nlm.nih.gov/pubmed?term=Conference%20Report%20Angelman%20Syndrome%202005%3A%20Updated%20Consensus%20for%20Diagnostic%20Criteria