Angelman Syndrome.

Topics: Chromosome, UBE3A, DNA Pages: 3 (1062 words) Published: April 4, 2013
Angelman Syndrome
In America, about 6 million students are known to have some kind of intellectual disability. Intellectual disabilities are not always determined by the IQ level of an individual but rather how they react to their peers, self-perception, problem solving, personal care, etc.. It could develop before birth, after birth or even in one’s later life. Usually, these disabilities are caused by mutation in one of the chromosomes of a fetus. For example, some syndromes are the result of a trisomy in one of the chromosomes, which means that there is an extra copy of the chromosome in the cell nuclei. Another situation is when one of the parents’ genes is not present. Angelman syndrome (AS) is a disability that is caused by a missing gene. AS is a neuro-genetic disorder, this causes the child to have some development issues. Those who live with AS are affected in so many ways and some scientists say that there are different methods to treat it.

Although they appear to be normal, individuals with Angelman syndrome go through an abnormal life. It is a rare genetic disorder that happens in one of 15,000 live births. According to The Gale Encyclopedia of Genetic Disorders, this occurs when the UBE3A gene from the mother disappears or is mutated causing damage to the gene. Without it, the father’s genes will not activate and play its proper role. Unfortunately, when this particular gene is gone, it causes impairment to the development of the child.

There are several symptoms of AS. When babies are born, the signs of Angelman syndrome are not fully developed. The first noted signs in infants are the delayed ability to walk (ataxia), having poor muscle tone (hypotonia) and lack of speech. Due to their delayed ability to walk, chances are, they will not start walking until between the ages of two to six years old. When they reach the age of one, their heads are usually small in size. This is called, microcephaly. Also, showing a happy, bouncy demeanor is...
Continue Reading

Please join StudyMode to read the full document

You May Also Find These Documents Helpful

  • Angelman Syndrome Research Paper
  • Essay about Angelman Syndrome
  • What Is Angelman Syndrome? Essay
  • Angelman Syndrome Essay
  • Angelman Syndrome
  • Essay about Angel Man Syndrome
  • Noonan Syndrome Essay
  • Phantom Limb Syndrome Essay

Become a StudyMode Member

Sign Up - It's Free