Angelman Syndrome

Summarized by Plex Health
Last Updated: 03 May 2022

Angelman syndrome is a complex genetic disorder that mainly influences the nerve system. Most affected children have recurrent seizures and a small head dimension. Postponed advancement comes to be visible by the age of 6 to 12 months, and other common signs and symptoms usually show up in early childhood years. Children with Angelman syndrome generally have a happy, restless disposition with constant smiling, giggling, and hand-flapping activities. Most affected children have problem sleeping and require less sleep than typical. With age, people with Angelman syndrome become less restless, and the resting problems often tend to improve. Affected individuals continue to have intellectual handicap, serious speech impairment, and seizures throughout their lives. Adults with Angelman syndrome have distinct facial features that may be referred to as "coarse. " The life span of people with this problem seems virtually normal. A child with Angelman syndrome will start to reveal signs of postponed growth at around 6 to 12 months old, such as being unable to sit in need of support or make babbling noises. Nevertheless, most children with Angelman syndrome will be able to interact using gestures, signs or other systems. By around 2 years of age, a small head which is flat at the back may be noticeable in some children with Angelman syndrome. Children with Angelman syndrome may start to have seizures or fits around this age. Infants with Angelman syndrome might require to be dealt with for reflux. Most cases of Angelman syndrome are brought on by the child not getting a copy of the UBE3A gene from its mom, or the genetics not working. Most cases of Angelman syndrome are not inherited, although in uncommon cases a hereditary change in charge of Angelman syndrome can be acquired from a parent. People normally acquire one duplicate of the UBE3A gene from each parent. If the mother's copy of the UBE3A gene is lost because of a chromosomal change or a genetics mutation, an individual will have no active duplicates of the genetics in some components of the brain. Most cases of Angelman syndrome are not acquired, particularly those triggered by a deletion in the mother's chromosome 15 or by paternal uniparental disomy.

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