Vad är Rett syndrom?

Rak syndrom är ett sällsynt tillstånd, en allvarlig neurologisk sjukdom som drabbar främst flickor; Det är oftast upptäcks i de två första levnadsåren. Ett barns diagnos av Rett syndrom kan kännas överväldigande för föräldrar, delvis på grund av sjön förståelse och medvetenhet om de sjukdomar. Även om det inte finns något botemedel, early identification and therapy may help girls and families who are impacted by Rett syndrome, In the past, it was thought to be part of the Autism Spectrum DIsorder. Scientists now know that it is mostly genetically based.

Symptoms
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 and 18 months, and they can be immediate or progress slowly. Symptoms of Rett syndrome;

Stunted and slowed growth. The brain doesn’t grow properly, and the head is usually small (physicians call this microcephaly). This slower growth becomes clearer as the child gets older.

Difficulties with hand movements. The vast majority of children with Rett syndrome lose the use of their hands. They tend to wring or rub their hands together.
No language skills. Between ages, 1-to 4, social and communication skills start to decline. Childen with Rett syndrome stop talking and can have extreme social anxiety. 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.

Diagnosis
En diagnos av Rett syndrom är består av observation en flicka mönster av symptom och beteende. Läkare kan leverera diagnos baserad på enbart dessa observationer och genom att tala med flickans föräldrar om olika ledtrådar, som när symptomen började.
Becuase Straight syndrom är sällsynt; läkare kommer först utesluta andra villkor, inklusive autism, metaboliska störningar, cerebral palsy, och perinatala sjukdomar i hjärnan.

En genetisk undersökning kan ytterligare bekräfta diagnosen i 80% flickor med misstänkt Rett syndrom. Testerna kan också förutsäga hur allvarlig den blir.

Treatments
Trots att det finns inget botemedel mot Retts syndrom, Det finns behandlingar som kan lindra några av symptomen; however, barn bör fortsätta dessa behandlingar för hela sitt liv.
De bästa förutsättningarna finns för att behandla Retts syndrom inkluderar:

  • Physical therapy
  • Speech therapy
  • Standard sjukvård och medicin
  • Arbetsterapi
  • 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 years.