| Angelman Syndrome is a genetic disorder caused by | | | | Researchers have found a very small deleted area in |
| a fault in chromosome 15. There are many ways to | | | | this chromosome in patients with AS. This deleted |
| treat the disorder but unfortunately, there are no | | | | area contains genes that can be either activated or |
| proven methods to cure it. However, researchers are | | | | inactivated, depending on which parent the |
| continuing to search for ways to permanently cure | | | | chromosome was inherited from. The gene for this |
| the disease. Angelman Syndrome, sometimes called | | | | disease is called UBE3A. When this gene is turned on, |
| AS for short was once known as 'happy puppet' | | | | Angelman Syndrome does not occur. However when |
| because of the patient's sunny outlook and jerky | | | | it is turned off or missing, Angelman Syndrome |
| movements. It was later renamed after Harry | | | | occurs. In patients with Angelman Syndrome, a |
| Angelman, the physician who pioneered investigation | | | | missing UBE3A gene only occurs in the chromosome |
| into symptoms of the disease in 1965. AS causes | | | | given by the mother. |
| developmental delay and neurological problems, and | | | | For this reason, it seems that the UBE3A gene is |
| can affect any person regardless of their race, | | | | turned on only on the chromosome inherited from |
| gender, or age. | | | | mother. Researchers have also found that Angelman |
| Angelman Syndrome is usually not recognized at birth | | | | Syndrome is caused when a child inherits both |
| or in infancy since the developmental problems are | | | | chromosomes 15 from the father. This condition is |
| nonspecific during this time. Parents may begin to | | | | called paternal uniparental disomy (UPD). In this case, |
| suspect the diagnosis after reading about AS or | | | | both chromosomes have their UBE3A genes turned |
| meeting a child with the condition. The most common | | | | off. There is a control region, called the Imprinting |
| age of diagnosis is between three and seven years | | | | Center (IC), which can control or turn on or off the |
| of age, when the characteristic behaviors and | | | | action of the UBE3A gene. Mutations in the area of |
| features become most evident. A child who has | | | | the Imprinting Center can also cause Angelman |
| Angelman Syndrome will show many symptoms, | | | | Syndrome, as well as many other genetic disorders. |
| some which are omnipresent and others which can | | | | Some disorders have similar or even the same |
| remain dormant for long periods of time. | | | | symptoms as Angelman Syndrome. Therefore, when |
| Some symptoms that are always present include | | | | a doctor is diagnosing a patient, he/she must |
| severe speech impairment, hyperactive behavior, | | | | somehow rule out the other disorders to ensure that |
| movement or balance disorders, and developmental | | | | they will come up with a precise diagnosis. Some of |
| delay in sitting, crawling, walking, or mental | | | | the other disorders include Prader-Willi Syndrome, |
| retardation. Jerky marionette-type movements, | | | | Cerebral Palsy, Rett Syndrome, Idiopathic Epilepsy, |
| stiff-legged walking, hand flapping, and unique | | | | and Static Encephalopathy. AS is a fairly rare disorder. |
| behavior with an inappropriate happy demeanor that | | | | While an exact count of cases in the United States is |
| includes frequent laughing, smiling, and excitability are | | | | not available, the Angelman Syndrome Foundation |
| also some of the usual symptoms in a diagnosed | | | | (ASF) has found around 1000 cases in the U.S. and |
| child. Symptoms that are not always evident include | | | | Canada. However, the most important aspect of this |
| having a small head, characteristic EEG abnormalities, | | | | disease has yet to be recognized: a cure. |
| tremulousness of the limbs, and seizures onset | | | | In the recent years, there has been some beneficial |
| before three years of age. Many children with this | | | | research into the location and identification of the |
| disease will also have a protruding tongue, disturbed | | | | genes causing Angelman Syndrome. Now efforts are |
| sleep, frequent drooling, and feeding difficulty during | | | | being directed towards examination of the precise |
| infancy. Microcephaly and Epilepsy are both common | | | | functions of these genes. There is still much progress |
| in children with this irreversible disorder. | | | | to be made in understanding the symptoms of this |
| There is no standard course of treatment for | | | | condition, particularly the communication problems and |
| Angelman Syndrome because there is no known way | | | | the seizure disorder. Therefore, the research is |
| to prevent or cure it. Treatment is mainly focused on | | | | divided into two categories. One is Scientific research, |
| providing physical therapy and adaptive devices to | | | | which involves using laboratory techniques to find out |
| assist with gait and balance problems. Early language | | | | about the basic chemical, physiological and anatomical |
| evaluation and intervention is also recommended. | | | | abnormalities in the condition and aids diagnosis. |
| Patients with epilepsy are often prescribed | | | | The other is Clinical research, which involves the |
| anticonvulsant medications. Parents of children with | | | | observation and study of patients themselves. Both |
| AS usually find strength, valuable information, and | | | | types of research will be vital in the quest to cure |
| comfort from support groups. | | | | AS. It is thought to be unlikely that gene therapy will |
| Occupational therapies, communication therapy, and | | | | ever be able to cure Angelman Syndrome, due to |
| behavioral therapies are important in allowing | | | | the fact that some of the effects on early brain |
| individuals with Angelman syndrome to reach their | | | | development are irreversible. Understanding of the |
| maximum developmental potential. Most individuals | | | | genes involved, however, could be a valuable guide |
| with AS will have severe developmental delays, | | | | as to which drugs might be used to treat the |
| speech limitations, and motor difficulties. However, | | | | condition. Quality clinical research can help to teach |
| people with this irrevokable disease can have normal | | | | more about which therapies are particularly useful in |
| life spans and generally do not show developmental | | | | the management of AS. There are now many |
| regression as they age. Early diagnosis and the | | | | centers all over the world which are involved in |
| tailored interventions and therapies listed above can | | | | researching a cure. With all these ideas from major |
| help improve the quality of life for those who were | | | | centers, as well as help from Angelman Syndrome |
| unfortunately diagnosed with this dire genetic | | | | families, researchers should be able to understand |
| disorder. | | | | more about how the genes on chromosome 15 |
| Angelman Syndrome is caused by an abnormal | | | | cause the symptoms of Angelman Syndrome. |
| expression of a group of genes on chromosome 15. | | | | |