右症候群とは何ですか?

ストレート症候群はまれな疾患であります, 主に女の子を打つ激しい神経疾患; これは通常、人生の最初の2年間に発見されています. レット症候群の子供の診断は、両親への圧倒的な感じることができます, 一部起因疾患の理解の湖と意識へ. 治療法はありませんにもかかわらず, 早期発見と治療は、レット症候群の影響を受けている少女と家族を助けるかもしれません, 過去には, it was thought to be part of the Autism Spectrum DIsorder. Scientists now know that it is mostly genetically based.

症状
The age when symptoms appear varies, but most babies with Rett syndrome seem to grow normally for the first six months before any signs of the disorder are noticeable. The most regularly change usually show up when babies are between 12 そして 18 ヶ月, and they can be immediate or progress slowly. Symptoms of Rett syndrome;

いじけと成長を鈍化. 脳は正常に成長しません, ヘッドは通常小さく、 (医師はこの小頭を呼び出します). 子供が古くなると、この低成長が明確になります.

手の動きとの難しさ. レット症候群を持つ子どもたちの大半は彼らの手の使用を失います. 彼らは一緒に手を絞るか、こすりする傾向があります.
いいえ言語スキルません. 年齢層の間, 1-に 4, 社会的、コミュニケーションスキルが減少し始めます. レット症候群とChilden話を停止し、極端な社会不安を持つことができます. They may need to stay away from or not be interested in other people, toys, and their surroundings.
They may have problems with muscles and coordination. This can make walking awkwardly.
There can be trouble with breathing. A child with Rett may have uncoordinated or uncontrolled breathing and seizures, which may be very fast breathing (hyperventilation), swallowing salvia, forceful exhaling of air.
Children with Rett syndrome also are more likely to become agitated and irritable as they get older. They may cry or scream for elongated periods of time, or have long spells of laughter.

Symptoms of Rett syndrome normally don’t get better over time. It is a lifelong ailment. Often the symptoms deteriorate very slowly or don’t change. It’s unusual for people with Rett syndrome to be able to live independently.

Causes of Rett Syndrome
Most children with Rett syndrome have a deviation on the X chromosome. Precisely what this gene does to prompt Retts development, or how its mutation leads to Rett syndrome, is not clear. Researchers believe that the single gene may regulate many other genes involved in development.

Although Rett syndrome is genetic, there are rarely cases where children inherit the defective gene from their parents, Rather, it’s a chance mutation that occurs in DNA.

When males acquire the Rett syndrome mutation, they rarely live past birth. Boys possess only one X chromosome (instead of the two girls have), so the effects of the disease are much more grave and almost invariably fatal.

診断
A diagnosis of Rett syndrome is consist of observation a girl’s pattern of symptoms and behavior. Physicians can deliver the diagnosis based on these observations alone and by speaking with the girl’s parents about different clues, like when the symptoms began.
Becuase Rett syndrome is rare; doctors will first rule other conditions, including autism spectrum disorder, metabolic disorders, 脳性まひ, and perinatal brain disorders.

A genetic examination can further confirm the diagnosis in 80% of girls with suspected Rett syndrome. The tests may also predict how severe it will be.

トリートメント
Despite there being no cure for Rett syndrome, there are treatments that can help alleviate some of the symptoms; しかしながら, children should continue these treatments for their entire life.
The best prospects available to treat Rett syndrome include:

  • 理学療法
  • 言語療法
  • Standard medical care and medication
  • 作業療法
  • Good nutrition
  • Behavioral therapy
  • Supportive Services

Experts conclude that therapy can assist girls with Rett syndrome and their parents. Some girls may be able to go to school and learn sufficient social interaction.
Medicines can treat some of the symptoms with movement in Rett syndrome Medication can also help restraint seizures.
Many girls with Rett syndrome can grow into adults living at least into their middle age. Research is studying women with the disease, which only widely recognized the last 20 年.