photo credit: Rett Syndrome
In photo above, the girl has Rett Syndrome. The positioning of her hands is common in girls with Rett Syndrome. Although she has Rett Syndrome, the girl is like any "normal" girl because she goes to school throughout her day.
"Rett Syndrome is a disorder of the nervous system that leads to developmental reversals in the areas of expressive language and hand use. It occurs mostly in girls and is caused by a defect in methl-CpG-binding protein 2 gene. The gene is on the X chromosome, and since girls have two X chromosomes, the other X chromosome that is unaffected is normal enough for the child to survive. Boys with this gene usually result in a miscarriage, stillbirth, or early death since they don't have another normal X chromosome to survive. About 1 in 10,000 children are affected with Rett Syndrome and geographic regions such as Sweden, Norway, and northern Italy are affected the most."
"Infants with Rett Syndrome usually have normal development for the first 6 to 18 months of their lives with symptoms ranging from mild to severe. Symptoms of Rett Syndrome include: apraxia, breathing problems, change in development, excessive saliva and drooling, floppy arms and legs, intellectual and learning difficulties, scoliosis, toe walking, seizures, slowing head growth at 5 or 6 months of age, loss of normal sleep patterns, loss of purposeful hand movements, loss of social engagement, severe constipation, poor circulation, and severe language development problems. Genetic testing can be done to look for the gene defect associated with Rett Syndrome. There are three types of Rett Syndrome which are Atypical, Classical, and Provisional. It is classified as Atypical if it begins early or late, speech and hand skill problems are mild, or if it appears in a boy."
"There is really no treatment for Rett Syndrome. Assistance may be needed with feeding and diapering, methods could be used to treat constipation, physical therapy may help the hands from contracting, and weight bearing exercises could be used for those with scoliosis. Supplemental feedings can help with slowed growth. Medications can also be used to treat seizures."
"Rett Syndrome slowly progresses until the teenage years, then the symptoms start to improve. There is developmental delay and regression, though. Skills such as walking can be lost. The life expectancy of a child with Rett Syndrome is at least until the mid-twenties to the mid-forties."
Rett Syndrome is an unavoidable disease that affects the X chromosome. It is very common for girls and rare for boys. I worked with a little girl who had Rett Syndrome. She could walk and eat like any normal child, but she could not communicate with me. She constantly wrang her hands together. I was told that by next year I will probably notice major regression in her.
