Angelman Syndrome

Angelman Syndrome

By Ciera Carr

Dr. Glimps

2006

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Ciera Carr

Dr. Glimps

Research Paper

Angelman Syndrome

Angelman syndrome is a genetic disorder that is caused by a couple of different attributes. The first one is “a deletion on chromosome 15 of maternal origin or paternal uniparental disomy”(Curfs, 2004, p. 1263). There has also been found that some people with the disorder have no deletion on the chromosome at all. Angelman syndrome was first discovered in 1965 by a doctor named Harry Angelman. Back then, the syndrome was termed “happy puppet” because of the clinical features of the disorder(Clarke, 2000, p. 25). There are many distinct characteristics of the disorder, these include, low birth weight, neonatal feeding problems, gastro esophageal reflux in childhood, and poor weight gain in infancy. Facial characteristics usually are thin upper lip, protruding tongue, wide mouth, widely spaced teeth, and pointed chin. When dealing with motor

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development, there legs are usually widely based and stiffed-legged, flapping hands, and jerky movements. The main characteristic of Angelman Syndrome is the inappropriate bursts of laughter(Clarke, 2000, p. 25).

Many people are diagnosed with Angelman syndrome early, whether it be prenatal or early infancy. This is because it is very easy to notice the characteristics in people and to find the missing chromosome. A lot of the times with this disorder, the person will have seizures and epilepsy; this occurs in more than 80% of people affected (Clarke, 2000, p. 25). This whole syndrome causes problems in communication as well. This could be the most intense problem that doctors, parents, and speech therapists have to deal with concerning people with Angelman syndrome.

Communication is not very common among people with Angelman syndrome. Most people do not have the mind set or ability to focus long enough to learn any type of communication skills. There have been many tests to try and figure out what type of communication skills these people can learn and what was come up with is using the Verbal Behavior Assessment Scale, or VerBAS. This test, tested the communicative functioning of three things, ability to use manding, to use tacting, and to use echoing

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(Curfs, 2004, p. 1264). For those that do not know, manding is the ability to nonverbally request wanted objects and reject the unwanted ones, usually by pushing away. Tacting is the ability to nonverbally label objects. Echoing is the ability to nonverbally imitate behaviors displayed by others. Echoing is the one thing that people with Angelman syndrome cannot do. When finished with the VerBAS, the test indicated that “individuals with AS that mean total VerBAS score was associated with the presence of a seizure disorder, profound mental retardation, and use of medication” (Curfs, 2004, p. 1266).

It has been mentioned by doctors and scientists, that Angelman syndrome and autism may have some overlapping features and may be associated with each other. This is one test that have not been proven true. It is very hard to prove that people with AS could also be put into the category of having autism, or vise versa. Although during testing, some people did qualify for having both disorders, there was no correlation between enough people to make a true statement. In fact, there have only been two studies of this hypothesis, and both yielded conflicting results (Bacino, 2004, p. 531).

Although Angelman syndrome is still to this day quite

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unpopular and unheard of my many people, it is becoming more and more popular. When first found, it occurred in 1 in 20,000 live births. Now it occurs in less than 1 in 10,000 live births. This number is getting smaller and smaller and doctors and scientist do not seem to know why this is happening (Calculator, 2002, p. 340). It is also estimated that more than 70% of individuals with Angelman syndrome are positive for deletion of the affected chromosome. Then, the other 20% have the disorder and it is undetectable. The children who are deletion positive tend to have more pronounced characteristics of Angelman Syndrome (Calculator, 2002, p. 340). Children of both of these types of AS have sever motor and intellectual retardation (Lombroso, 2000, p. 931).

Working with children who have Angelman syndrome is not an easy task. It is very have for them to focus and learn anything. The communicative skills that are usually taught are gestures. These gestures do not work all of the time and sometimes not at all. A lot of the time, these children have no speech or have a language vocabulary of about 3-5 words total in life. When using gestures, the types of things done is fine and gross motor skills like facial expressions, eye behaviors, and postures. The only

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way for these things to work is to have both communication partners must understand it (Calculator, 2002, p. 341). Parents are

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