The Effects of Angelman Syndrome on Behavior, Cognition, and Development

Angelman syndrome is a genetic disorder affecting the nervous system. Angelman syndrome, also known as AS, affects children's behavior, cognition, and developmental function, but most of the symptoms are not seen until the second half of life (Williams et al.). In 1965, a British medical doctor Harry Angelman studied three children with similar symptoms. He noticed that these children have many parallel features. The first term of Angelman syndrome was "Happy Puppet", but in 1982 the word Happy Puppet was considered low morale and concluded that this condition should be called Angelman syndrome (Williams & Frias, 1982).

... Angelman syndrome What is Angelman syndrome? Angelman syndrome is a neurogenic disorder originally reported by Dr. Harry Angelman in 1965. This is the origin of the name of the disease. Dr. Angelin calls this disease a "happy puppet syndrome." That is because the people affected by it, walk like a kind of happiness, kind of grace, stiffness, oyster, and marionette. Angie man syndrome ... sounds around. Instead, the boy was diagnosed with Savant's syndrome. Sabant's syndrome is extremely rare. A person with autism, developmental disability, or mental retardation may be born. After brain damage and certain dementia (schizophrenia), it may develop in childhood or later in adulthood. It happens more frequently in men than in women, with a ratio of 6: 1. All people with Savant syndrome

In 1965, Dr. Harry Angelman was the first person to report the signs of Angelman's syndrome. This disease occurs in about 15,000 newborns and is characterized by a happy personality of developmental disorders, mental retardation, sleep disorders, seizures, ataxia, hyperactivity, and laughing occurrence (Angelman, 1965). ; Falls et al., 1999). Prader-Willie syndrome and Angelman's syndrome are the first imprinted diseases found in humans. Although the symptoms of these two diseases are very different, scientists have discovered that both diseases are caused by indistinguishable deletions on chromosome 15 of 15q11-q13 region (Knoll et al., 1989). The difference in these diseases lies in the origin of the parent of the affected chromosome. In particular, Prader-Willie syndrome is caused by the loss of paternal genetic genes on chromosome 15 (Butler et al., 1986; Nicholls et al., 1989a, 1989b).

Angelman syndrome, also known as Happy Syndrome, is a hereditary disorder named after a doctor who first explained it in 1965. It is estimated that Angeman syndrome affects 1 in 10,000 to 20,000 people. Typical features of patients with angioman syndrome include mental retardation, blond hair, pale, dark eyes, long chin, crouching gait and absurd laughter. This is where the nickname "Happy Syndrome" is located. (Angelman's Syndrome) Angelman's syndrome has a big cause. People usually have two UBE3A genes. Both copies of this gene are active in many body tissues. However, in the brain, only copies (copies of mothers) inherited from the mother's mother are effective. If the parent copy is lost due to a chromosomal alteration or genetic mutation, there is no active copy of the UBE3A gene in the brain.