Rett syndrome is a rare genetic neurological disorder that affects nearly every aspect of a childs life, and occurs almost exclusively in girls, more rarely in boys. It is caused by mutations on the X chromosome on a gene called MECP2, and there are more than 900 different mutations found on the MECP2 gene, most found in eight different “hot spots” . The hallmark of Rett syndrome is near constant repetitive hand movements while awake, and it is usually recognized in children between 6 to 18 months as they begin to miss developmental milestones or lose abilities they had gained. Rett syndrome leads to severe impairments, affecting nearly every aspect of life, including the ability to speak, walk, eat, and even breathe easily. Cognitive assessment in children with Rett syndrome is complicated, but they understand far more than they can communicate to us, evidenced by their bright and attentive eyes, and their ability to express a wide spectrum of moods and emotions. Some of the symptoms of Rett syndrome include:
- A progressive loss of motor skills and language, including the ability to crawl, walk, communicate or use their hands.
- Irritability and crying, with children becoming increasingly agitated and irritable as they get older. Periods of crying or screaming may begin suddenly, for no apparent reason, and last for hours.
- Other unusual behaviors, such as sudden, odd facial expressions and long bouts of laughter, hand licking, and grasping of hair or clothing.
Rett syndrome is not a degenerative disorder, with individuals living to middle age or beyond, and it can present with a wide range of disability ranging from mild to severe. Although Rett syndrome is a genetic disorder, less than 1% of recorded cases are passed from one generation to the next, and most cases are spontaneous, which means the mutation occurs randomly.
