Angelman Syndrome Essay

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Angelman syndrome is a complex genetic disorder that primarily affects the nervous system. This genetic disorder causes developmental disabilities and neurological problems, such as difficulty speaking, balancing and walking, and, in some cases, seizures. Frequent smiles and outbursts of laughter are common for people with Angelman syndrome, and many have happy, excitable personalities. Angelman syndrome has many distinct symptoms. Signs and symptoms of Angelman syndrome include developmental delays, such as lack of crawling or babbling at 6 to 12 months, lack of minimal speech, inability to walk, move or balance well, trembling movement of arms and legs, frequent smiling and laughter, and happy, excitable personality. Many parents are concerned about how the appearance of their AS child will change physically as they grow up. The typical Angelman face in childhood has some characteristic, but quite subtle facial features. The mouth is often wide and smiling and is held open. The chin is slightly pointed and the eyes are deep set. The face is usually quite rounded, as one would expect for a child. As all children grow, the facial bones grow longer and the shape of the face changes. The same is true in AS. The face gets longer so the chin becomes more prominent. The eyes appear more deep-set. The mouth is still often held open and is wide and smiling. People who have Angelman syndrome may also have other signs and symptoms including seizures, usually beginning between 2 and 3 years of age, stiff or jerky movements, small head size, with flatness in the back of the head, crossing of the eyes, tongue thrusting, walking with arms up in the air, a lower jaw that juts out, and light pigmentation in hair, skin, and eyes. Rates of seizure freedom and seizure exacerbation for the most commonly prescribed AED in AS Communication problems are one of the most

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