2011 Group Project 7: Difference between revisions
| Line 19: | Line 19: | ||
==Aetiology== | ==Aetiology== | ||
==Pathophysiology== | ==Pathophysiology== | ||
== | ==Symptoms== | ||
Angelman syndrome causes a variety of symptoms in patients. | |||
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. <ref>http://www.ncbi.nlm.nih.gov/pubmed?term=Conference%20Report%20Angelman%20Syndrome%202005%3A%20Updated%20Consensus%20for%20Diagnostic%20Criteria</ref> | |||
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. <ref>http://www.ncbi.nlm.nih.gov/pubmed/14510623</ref> | |||
<ref> </ref> | |||
==Diagnosis== | ==Diagnosis== | ||
==Prognosis== | ==Prognosis== | ||
Revision as of 19:44, 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 in patients.
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. [8]
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. [9]
Cite error: Invalid <ref> tag; refs with no name must have content
Diagnosis
Prognosis
Treatment
Management
Current and Future Research
Glossary
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=Conference%20Report%20Angelman%20Syndrome%202005%3A%20Updated%20Consensus%20for%20Diagnostic%20Criteria
- ↑ http://www.ncbi.nlm.nih.gov/pubmed/14510623
