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Angelman Syndrome - Andrea

Page history last edited by Andrea A 7 years, 6 months ago


What are genetic disorders and how are they passed along to offspring?


A genetic disorder is an abnormality in the DNA in an individual, that affects their physical, mental, etc. being. It is a disease caused by a different or an alteration of a gene. Mutations, alterations of a gene, can occur randomly or due to exposure to a harmful environment. Genetic disorders can be inherited. A mutated gene can be passed through several generations and the children of each new generation are able to inherit the mutated gene that causes the disease. Many times, a recessive form of a genetic disorder is passed down and the disease does not affect the offspring, even if they carry the mutated gene. However, if the carrier of the recessive mutated gene procreates with another carrier, the mutated gene may show and affect their offspring. Individuals with dominant forms of genetic disorders can produce children who express the genetic disorder, even if only one parent has the gene.


Angelman Syndrome


Angelman Syndrome is a genetic disorder that mainly affects the nervous system. Individuals with Angelman Syndrome typically have speech impairment, delayed development, are disabled intellectually, and have ataxia (movement and balance problems). Common signs and symptoms of Angelman Syndrome typically appear early in individual's childhood. Angelman Syndrome affects around 1 in 10 000 people.


Symptoms of Angelman Syndrome are developmental delay mostly on an intellectual level. Children with Angelman Syndrome are prone to seizure disorders and constant sleep disturbance. They usually have moving disabilities and jerky movements, mainly ataxia. Most children with Angelman Syndrome seem extremely happy and always in a joyful mood, and sometimes hold a fascination to water.


There is no known cure for Angelman Syndrome because it is a chromosome defect, but certain medicines and therapies may be available to manage the symptoms. Anti-seizure medication may be necessary to control the patient's seizures. Physical, behavioral, and communication therapy can be used. Physical therapy may be able to help the patient to control their movement problems. Communication therapy can help the patient by allowing them to learn different communication methods, such as sign language and picture communication. Perhaps it may help them form more sentences. Behavioral therapy may aid in the control of the patient's hyperactivity, and may aid overcome their short attention span.


History of Angelman Syndrome


Dr Harry Angelman was an English pediatrician who noticed odd similarities in a few children's behaviors. He noticed their restricted mental and physical development, their similar appearances and their extreme happiness. He also noticed the unusual amount of seizures they experienced. He called this the 'Happy Puppet Syndrome', but it was eventually renamed as 'Angelman Syndrome'. This was in 1965, and the first reports of the syndrome were given to the US in the 1980's. The director of the research for AS in the University of Florida was Dr Charles Williams. In 1987, it was discovered that a genetic marker for Angelman Syndrome was chromosome 15: it had a missing genetic code. In 1997, Dr. Joseph Wagstaff, and Dr. Arthur Beaudet found out that if Angelman Syndrome was inherited, it was caused by a mutation in the gene UBE3A. As of today, four different markers of Angelman Syndrome can be confirmed by genetic testing.


Controversies surrounding Angelman Syndrome


A controversy surrounding Angelman Syndrome is whether or not it is related to autism. Those who have Angelman Syndrome usually do not show any signs of autism. Still, some researchers believe that the phenotypes of autistic individuals relate to the intellectual level of individuals who have Angelman Syndrome.


Another debatable topic concerning Angelman Syndrome is the idea that Prader-Willi Syndrome is related to Angelman Syndrome. Some researchers believe that Prader-Willi Syndrome patients all have something abnormal with chromosome 15, whilst only 70% of Prader-Willi patients have problems with chromosome 15. Roughly 10 percent of individuals who have Prader-Willi Syndrome experience seizures, a trait that is characteristic of Angelman Syndrome patients. There are also many individuals who have Angelman Syndrome who have red or blonde hair and blue eyes, traits that are characteristic with Prader-Willi patients.


A controversial topic is whether or not Beckwith-Wiedemann Syndrome and Angelman Syndrome are related. BWS is an imprinting disorder, where genes are not imprinted properly on chromosomes. Some researchers believe that the faulty chromosome 15 in AS is an imprinting effect. This leads them to believe that BWS and AS are related.


Gene Therapy and Angelman Syndrome


Gene therapy is a therapy technique that uses genes to treat or prevent ailments. It is still undergoing experiments. This technique may be able to allow doctors to treat or prevent ailments by replacing a mutated gene, stabilizing a functioning gene or implanting a gene to assist the body, instead of using surgery or drugs. Gene therapy is very risky and quite advanced, therefore is only tested for diseases with no known cures.


Usually, when foreign genes are injected into cells, they are not read properly, and therefore do not function. Therefore, a vector, a carrier, is then engineered to properly deliver the gene. Viruses are often used as vectors because they can easily take over a cell, but are modified so they cannot infect the body. The vector can be injected or delivered through IV into strategic parts in the body, where cells can then take over. If the treatment is successful, the gene carried by the vector can then do its job.


There are no records of gene therapy for Angelman Syndrome yet.


A 17th century painting by Gian Francesco Caroto

that inspired Dr Angelman to name the syndrome

"Happy Puppet Syndrome".


Source: http://www.angelmanproject.com/history.htm



1:20 - 2:40

Colin Farell talks about his son who has Angelman Syndrome, giving a basic summary of the

syndrome and talking about what is happening with his son concerning his disability.


2:55 - 3:25

A clip of Colin Farell and his son, so you can observe how an Angelman Syndrome patient

looks like, interacts with people, and his motor skills.


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













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