When was the first case of Rett syndrome?
Rett syndrome was first described in 1966 by Dr Andreas Rett, who reported in German his findings in 22 patients. Recognition of the syndrome grew slowly until 1983, when a series of 35 patients from several countries was reported in English.
How did Rett syndrome get its name?
History. Andreas Rett, a pediatrician in Vienna, first described the condition in 1966. As his writings were in German, they did not become widely known in the English-speaking world. Bengt Hagberg, a Swedish pediatrician, published an English article in 1983 and named the condition after Rett.
Why do only girls get Rett syndrome?
Why is Rett syndrome usually only found in girls? Females have two copies of the X chromosome and males have one X and one Y chromosome. The MECP2 gene is found on the X chromosome, so females born with one normal and one changed copy of the MECP2 gene usually develop the symptoms of Rett syndrome.
Is Rett syndrome inheritable?
Is Rett syndrome inherited? Although Rett syndrome is a genetic disorder, less than 1 percent of recorded cases are inherited or passed from one generation to the next. Most cases are spontaneous, which means the mutation occurs randomly.
How did Andreas Rett syndrome get its name?
Rett Syndrome. In 1983, Dr. Hagberg and colleagues published their study, “A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls” in the Annals of Neurology, an English medical journal. The article named the disorder Rett syndrome, after Andreas Rett, and the medical world began to take notice.
When did Bengt Hagberg find out about Rett syndrome?
He published his finding in several German medical journals in 1966. Meanwhile, in 1960, Dr. Bengt Hagberg became aware of the similar symptoms in some of the girls and he wrote an article in 1982 on Rett syndrome. This report finally raised the profile of Rett syndrome and was a breakthrough in communicating details of the disease.
How are two girls with Rett syndrome different?
Therefore, two girls of the same age with the same mutation can appear significantly different. Rett syndrome was first described in the medical literature by an Austrian physician named Andreas Rett in 1960s. Many researchers now consider Rett syndrome as part of a spectrum of disease relating to mutations of the MECP2 gene.
When was the Indian Rett Syndrome Foundation established?
Indian Rett syndrome foundation is a national association of Parents, Families, Doctors, Scientists, Health professionals and care takers of children with Rett syndrome and was established on 27th January, 2010. The mission of IRSF is: Read more>>
What Doctor can diagnose Rett syndrome?
A pediatric neurologist, a clinical geneticist, or a developmental pediatrician should be consulted to confirm the clinical diagnosis of Rett syndrome. The doctor will use a very specific set of guidelines that are divided into three types of clinical criteria: main, support and exclusion.
What is the prognosis for Rett syndrome?
Prognosis for Rett’s syndrome: In spite of the severe impairments that characterize this disorder, the majority of individuals with Rett can be expected to reach adulthood, surviving at least into their 40s. However, the risk of death is increased. Sudden, unexplained death possibly from brainstem dysfunction with respiratory arrest often occurs.
Who is most at risk for Rett syndrome?
Affected Populations. Rett syndrome occurs almost exclusively in girls. The incidence of Rett syndrome in the United States is estimated to be 1 in 10,000 girls by age 12. Cases of Rett syndrome can go undiagnosed or misdiagnosed, making it difficult to determine the disorder’s true frequency in the general population.
What causes Rett syndrome?
Most cases of Rett syndrome are caused by a genetic mutation that affects a gene called MECP2 present on the X chromosome.