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Stephanie Angelman Syndrome

Page history last edited by Stephanie 7 years, 8 months ago


      Angelman's disorder is a genetic disorder that damages the nervous system(1). People with this syndrome often appear really happy, sometimes called the Happy Puppet Syndrome (1). This syndrome becomes visible in babies within 6 to 12 months (1). Most cases of Angelman Syndrome are not inherited, specifically those caused by a deletion in the maternal chromosome or by paternal uniparental disomy (1). People affected with Angelman's have no history in their family (1). A rare genetic change can be responsible for Angelman Syndrome and can be inherited then (1).



     Dr. Harry Angelman, who was an English pediatrician who first described Angelman Syndrome in a published newspaper in 1965 (2).  Dr. Angelman had under his care three children who all had a similar pattern of developmental problems (3). At that time, Harry Angelman could not find the cause of this disorder (3). Over the next 20 years, very few people who had Angelman Syndrome were reported and the condition was said to be very rare (3). When a diagnostic test was available for Angelman Syndrome, peopel began to test it for more and many more people discovered that they had the condition (3).



Causes and Risk Factors


     Angelman Syndrome is not always inherited, but caused by a deletion in the maternal chromosome or by paternal uniparental disomy (1). Paternal uniparnetal disomy is when both chromosome pairs come from the same parent rather than one from each (6). Deletion of the maternal chromosome means the chromosomes that comes from the mother is not present (7).


     Usually, it is by chance or genetic fluke that someone would have Angelman Syndrome which means there's no way to prevent it. However,  there is risk if a mother has Angelman Syndrome due to a deletion of the maternal chromosome (8). Since she lacks this chromosomes it is impossible for her to pass it on to her offspring, which means her offspring will have Angelman Syndrome (8). There is statistics showing that Angelman Syndrome affects 1 in 12,000 to 20,000 people (9).



Symptoms and Diagnosis


The following list are the symptoms of Angelman Syndrome (9):


  • Hand flapping or walking with arms in the air
  • Jerky body movements
  • Stiffed-leg walk
  • Little or no speech
  • Attention deficits
  • Hyperactivity
  • Feeding problems, especially in infancy
  • Sleep problems and a need for less sleep than their peers
  • Delays in motor development
  • Frequent laughter that may occur at inappropriate times
  • Excitable personality
  • Tongue thrusting
  • Strabismus (crossing of the eyes)
  • Small head size with flatness in the back of the head
  • A lower jaw that juts out
  • Light pigmentation in the hair skin and eyes


     Although there are many symptoms, the life span of someone living with Angelman Sydrome has a normal life span (9).  They usually live in group homes when they are older and can do normal everyday tasks such as chores (9). Diagnosis of AS is a genetic test called methylation testing and costs $300 (10). This test diagnoses by only the main causes of AS, but someone could have a negative result and still have AS because of a different genetic reason (10).


Treatments and Gene Therapy


     There are no treatments, no cures, and few therapies that support AS. However, a child with AS can attend physical, occupational, commuicational, and behavioral therapy to maximize their functioning (12). There is research being done to find a cure or better genetic therapy (12).


Controversies Surronding Angelman's Syndrome


     There are controversies surronding whether or not Autism should also be diagnosed with Angelman Syndrome (11). There are many symptoms that over lap between the two syndromes (11). At this time, doctors and researchers believe that they should not be diagnosed together because even though they have similar symptoms Autism has very different diagnoses than Angelmans Syndrome (11).


Pictures and Media





This a photograph is representing that Angelman syndrome has been around for a long time, but not recognized by doctors until 1965 (1).


  This hows shows all the chromosomes and chomosome 15 is effected (5).


YouTube Video: http://www.youtube.com/watch?v=TLtx2dj-FHw


Colin Farrell speaks about his son who has Angelman Syndrome during the clip (2 mins - 4 mins). He talks about how he noticed unusual symptoms in his son and how he is helping his son through this syndrome.   







5- http://www.cureangelman.org/what-testing101.html 





10- http://www.angelman.org/understanding-as/medical-info/diagnostic-testing/

11- http://www.medlink.com/medlinkcontent.asp

12- http://www.ninds.nih.gov/disorders/angelman/angelman.htm#Clinical_trials

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