Rett syndrome
What is Retts? Rett syndrome is a disorder of the nervous system that leads to developmental reversals, especially in the areas of expressive language and hand use. Who is affected? It is a very rare and severe form of autism that affects GIRLS ONLY. In most cases, it gets discovered in the first two years of life. It's very rare only affecting about one in 10,000 - 15,000 girls. Cures? Although science is still reserching for a cure, as of right now there is no cure for this, but if detected early, treatment can help slow the progression. Who fast does Rett's start affecting? With many cases of Rett syndrome, the child develops normally for the first 6-18 months of life. After that, changes begin to happen with the mental patterns and devolopment. What Are the Symptoms of Rett Syndrome? Usually the first signs aren't always detectable but the first sign to look for is slowing of the head growth. Usually, muscle atrophy (weakness) and tone begin to decline. Later on the child will lose the ability to control their hands and begin to rub their hands together. Then. around the first year of age and up to 4 years of age, the childs social and language skills start to deteriorate. Eventually the child stops talking and becomes very anxious around public and with many people, in turn causing her to withdraw and have no interest in anybody. What Causes Rett Syndrome? Most of the children who have Rett syndrome have a mutation in a particular gene on the X chromosome. It is the mutation of the gene that leads to Rett syndrome, and this mutuation isn't clear. Risk Factors. Even though Rett syndrome is thought to be genetic, the faulty gene that causes it is usually never inherited from the childs parents. It is thought to be a mutation that happens with the girl's own DNA makeup. There are no identified risk factors for Rett syndrome, other than being female. Preventions? There is no known method for preventing Rett syndrome. What happens if a boy get Retts? If boys develop Rett syndrome, they die shortly after they are born. The reason is because boys have only one X chromosome (instead of the two that girls have), and because of that one X chromosome and the X chromosome being affected the disease is more serious, and quickly fatal. How Is Rett Syndrome Diagnosed? A diagnosis of Rett syndrome is evaluated on the girl's pattern of behaviors and symptoms she has. The diagnosis can easily be made from observations. Genetic testing can be done with 80% of the girls suspected of having Rett syndrome. Be sure to contact your pediatrician if you suspect your child has Rett's Syndrome. For more information, please use the links below. National Library of Medicine Causes - Symptoms - Tests - Treatment - Prognosis - Prevention |
The Rett Syndrome Handbook
According to the International Rett Syndrome Foundation, This is the book that every parent, grandparent, teacher, therapist, doctor, and caregiver needs to have! Anyone in the life of a loved one with Rett syndrome should own a copy of this amazing book (called by many the "Rett Syndrome Bible"). Click here to order your copy! |