Angelman+Syndrome+Gary+P

Angelman Syndrome **Description:** Angelman Syndrome (AS) affects the nervous system. This causes the arms and legs to flail spontaneously. AS also causes developmental delays and learning disabilities such as absence or near absence of speech. People with AS may experience seizures, sleep disorders, and feeding difficulties. Some people affected by AS have distinctive facial features.

**Inheritance: **  AS can be inherited two ways, by mutation or the parents(rarely). If the child inherits two paternal chromosomes from the father then the child can have AS. Also if the child inherits chromosome 15 with the paternal pattern of gene functioning so that UBE3A expression is turned off. The most common way to receive the syndrome is by mutation. This is caused by a large deletion of material chromosomes 15q12 region. **Symptoms: ** · Developmental delays · Mental retardation · Lack of or minimal speech · Inability to walk, move or balance well · Trembling movement of arms and legs · Frequent smiling and laughter · Happy, excitable personality

**Daily Life: **

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**Diagnosis: **  People with AS are diagnosed between the ages 3 and 7. The doctor looks at the facial appearance, behavior, and physical movements of the child they are observing. There are also test that can be taken to diagnose a child, such as: Abnormal Electroencephalography (EEG) test to check for abnormalities in their brain activity. <span style="color: black; font-family: Times,serif; font-size: 12pt; line-height: 14.25pt; margin-bottom: 0in;">Cytogenetic testing to check for rearrangement of chromosomal structure. <span style="font-family: Times,serif; font-size: 12pt; line-height: 14.25pt; margin-bottom: 0in;"> DNA methylation Analysis, most important test to check for AS. <span style="font-family: Times,serif; font-size: 12pt; line-height: 14.25pt; margin-bottom: 0in;">Fluorescent In Sita Hybridization (FISH) checks for the deletion of the chromosomal copy. **<span style="color: black; font-family: Times,serif; font-size: 12pt;">Treatment: ** <span style="color: black; font-family: Times,serif; font-size: 12pt; line-height: normal; margin-bottom: 0in;">The best treatment is early diagnosis and early intervention. People with AS make steady developmental progress without regressing. If a person with AS experiences seizures, they need to take medicine to control them. They also need medical care to control their seizures. A way to improve an AS patients life, they need physical, occupational, speech and behavioral therapies. **<span style="color: black; font-family: Times,serif; font-size: 12pt;">Research: ** <span style="color: black; font-family: Times,serif; font-size: 12pt; line-height: normal; margin-bottom: 0in;">The NINDS conducts research on AS to develop techniques to diagnose, treat, prevent and cure it

**<span style="color: black; font-family: Times,serif; font-size: 12pt;">Additional Facts: ** <span style="color: black; font-family: Times,serif; font-size: 12pt; line-height: normal; margin-bottom: 0in;">AS was discovered by Dr. Harry Angelman. It was first called Happy Puppet Syndrome due to its characteristics. The well known Disney character, Dopey, was thought to have modeled an AS patient. The sister disorder to AS is Proder-Will Syndrome. A very odd characteristic of AS is an abnormal fascination with water. 1 in 15,000 people have AS. The race that is most likely to have this disease is Caucasian. A disease that AS is usually misdiagnosed with is Cerebral palsy. **<span style="color: black; font-family: Times,serif; font-size: 12pt;">Pedigree Chart: **

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