In honor of Rare Diseases day, we'd like to provide some information on on a disorder that is near and dear to our hearts here at All Care.
What is Rett Syndrome?
Rett syndrome is a genetic neurodevelopmental disorder that almost always affects girls. Rett syndrome is rarely seen in boys. The affects are shown from infancy and early childhood. It can be seen in all types of races around the world. According to a population study in Texas, the occurrence of Rett syndrome in African Americans and Hispanics is comparable to Caucasian Americans. The chance of having multiple children with Rett syndrome is rare. The syndrome is caused by mutations of the x chromosome on a gene called MECP2. This gene creates a certain protein that is necessary for typical development of the nervous system. The progression of Rett Syndrome is dependent on the location and severity of the genetic mutation. Less than 5% of girls that have Rett Syndrome are inherited and passed from generation to generation. It is recommended for women to have the carrier testing done if their daughter has Rett Syndrome. Fathers are not likely to be symptomatic. There are no other risk factors of this syndrome other than being a female or known maternal symptomatic carrier. With improved nutrition and care, the life expectancy of people with this syndrome is due to improve
Rhett Syndrome can cause an impact on a child’s learning, speech, sensations, mood, breathing, digestion, etc. This syndrome affects different parts of the brain that are responsible for sensory, emotional, movement, cognitive, motor and autonomic functions. Most of the children that have the syndrome show typical signs of development in their first few months of life. When they are approximately 6 to 18 months, their development slows down and they lose skills that were previously developed. They may display low muscle tone and a decreased control of their eye contact. As they get older, the child’s ability to use their communication skills and demonstrate intentional use of their hands is problematic. Their head growth rate begins to slow down and they may develop seizures or irregular breathing patterns. Children with Rett syndrome often display trouble with their gait pattern (walking). Not all children with this syndrome will move through the stages similarly. Their stages are predetermined by their specific mutation and x-inactivation status. It can also be based on what age when their syndrome occurs. Many children will need assistance with life skills but can learn to be independent in different areas. They may require assistive devices to communicate
Rett Syndrome Treatment. (n.d.). Retrieved February 07, 2018, from http://www.mychildwithoutlimits.org/understand/rett-syndrome/rett-syndrom- treatment/
International Rett Syndrome Foundation. (2016). About Rett syndrome. Retrieved February 7, 2018, from http://www.rettsyndrome.org/understanding-rett- syndrome/about-rett-syndrome