Angelman Disease: Dr. Harry Angleman

In 1965, British doctor Harry Angleman discovered Angelman disease in the UK and named it. He is observing some children with the same symptoms, including abnormal happiness, silence, seizures, mental retardation and similar facial expressions. Dr. Angelman expressed these patients as "happy dolls" or "angles" as they always have a happy look and a youthful appearance. After diagnosing these children as children of hearing impaired, he kept writing papers on his findings. In his thesis, there is no reason to cause this disease.

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).

Prader-Willi syndrome and Angleman syndrome are caused by loss of region 15q11-13 or a single parent (Ledbetter, 1981). If both copies of the chromosome are inherited from the father then the child will have Angelman and from the mother the child will have Prader-Willi syndrome (Horsthemke, 1996). The incidence of Prader-Willi is one in 10,000 people and the birthrate of Angelman is one in 20,000 (Clayton-Smith, 1993; Petersen et al., 1995). Prader Willi syndrome is characterized by lethargy and Angelman gives a laugh (Zori et al., 1992). These cytogenetic microdeletions in the long arm of chromosome 15 can be seen using FISH (fluorescence in situ hybridization) or DNA analysis using probes from deletion regions (Nicholls, 1994) .

Angelman syndrome can not be cured. Treatment includes treatment of physical and behavioral problems related to the disease. Epilepsy is usually difficult to treat. Plans for children's special educational needs are often helpful. Angleman syndrome is also not preventable. Because it is caused by randomness, Angelman syndrome can not be prevented. Even if it is caught, it can not stop because there is no cure. (Rare pediatrics department)