What is Rett Syndrome?

Reguit sindroom is 'n seldsame toestand, 'n ernstige neurologiese versteuring wat meestal meisies tref; Dit is gewoonlik ontdek in die eerste twee jaar van die lewe. 'n Kind se diagnose van Rett sindroom kan oorweldigend om ouers voel, deels te wyte aan die poel van begrip en bewustheid van die siektes. Selfs al is daar geen kuur, vroeë identifisering en behandeling kan meisies en gesinne wat geraak word deur Rett-sindroom te help, In die verlede, dit was gedink om deel van die outisme spektrum versteuring wees. Wetenskaplikes weet nou dat dit meestal geneties is gebaseer.

simptome
Die ouderdom wanneer simptome verskyn wissel, maar die meeste babas met Rett sindroom lyk gewoonlik groei vir die eerste ses maande voor enige tekens van die siekte is opvallend. Die meeste gereeld verander gewoonlik opdaag wanneer babas is tussen 12 en 18 maande, en hulle kan stadig onmiddellike of vordering wees. Simptome van Reguit sindroom;

Vertraagde en vertraag groei. Die brein nie behoorlik groei, en die kop is gewoonlik klein (dokters noem dit microcefalie). Hierdie stadiger groei word duideliker as die kind ouer word.

Probleme met handbewegings. Die oorgrote meerderheid van kinders met Rett sindroom verloor die gebruik van hul hande. Hulle is geneig om te wring of vryf hulle hande saam.
Geen taalvaardigheid. tussen die ouderdomme, 1-om 4, sosiale en kommunikasievaardighede begin om te daal. Kinderloos met Rett sindroom uitgepraat raak en kan uiterste sosiale angs het. Hulle mag nodig wees om weg te bly van al dan nie belangstel in ander mense, speelgoed, en hul omgewing.
Hulle kan probleme met spiere en koördinasie het. 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.

diagnose
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, serebrale gestremdheid, 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.

behandelings
Despite there being no cure for Rett syndrome, there are treatments that can help alleviate some of the symptoms; egter, children should continue these treatments for their entire life.
The best prospects available to treat Rett syndrome include:

  • Physical therapy
  • Speech therapy
  • Standard medical care and medication
  • Occupational therapy
  • 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 jaar.