Rett Syndrome

Rett Syndrome
Rett syndrome (RTT) is a neurodevelopmental disorder that is easily confused with other disorders like fragile X syndrome and Down syndrome, due to the autistic features. RTT is usually caused by a mutation in the gene encoding menthyl-CpG-binding protein-2 (MECP2). Since Rett syndrome is X-linked dominant, males with this disease usually die within the two years or so. However, females can live up to sixty years old while having this disease and the severity varies depending on the type and position of then MECP2 mutation and the pattern of the X-chromosome inactivation within the brain. In addition, it is believed that MECP2 mutations are more common in sperm, which is a cause of more RTT victims are females because they inherit a mutated MECP2 gene from their fathers. Many girls with Rett syndrome are prone to seizures, gastrointestinal disorders, growth failure, and socialization problems. Moreover, many symptoms, similar to autism, in infants are panic attacks, screaming fits, loss of speech, and lack of social and emotional reciprocity. More symptoms are grinding of teeth, spasmodic movements of hand or facial features, poor head growth, decreased body fat and muscle mass, scoliosis, chewing/swallowing difficulties, abnormal sleep patterns and movement disabilities. Additionally, seizures may become challenging and the intensity of them varies. As of right now, there is no cure for RTT. Nonetheless, there are many different ways to treat Rett syndrome. Of those include prevention of seizures, managing gastrointestinal and nutritional issues, increasing one’s communication skills, and decrease social difficulties. These kinds of treatments usually require consultation and help from speech and physical therapists, nutritionists, and psychiatrists. Lastly, worldwide, Rett syndrome seems to affect 1 in every 10,000-23,000 live female births

Information: http://www.rettsyndrome.org/content.asp?pl=147&sl=961&contentid=961, http://www.ninds.nih.gov/disorders/rett/rett.htm, and http://www.rettsyndromealberta.org/