Rett Syndrome

Rett Syndrome is a developmental disorder that falls under the umbrella term of “Autism, and is often misdiagnosed as autism, cerebral palsy, or some other non-specific developmental delay. It can be easily recognized early in infancy and is also almost always seen in girls but rarely in boys. It does not affect any one racial or ethnic group and is an indiscriminate disorder that occurs worldwide in 1 of every 10,000 to 23,000 female births. It is caused by mutations on the X chromosome, more specifically a gene called MECP2. In this gene, more than 200 different mutations can be found and most of these occur in eight different “hot spots”. The development of Rett Syndrome normally appears around 6-18 months where the development is halted and then regresses to the point where language and motor skills regress, purposeful hand use is lost, and there is a deceleration in the rate of head growth. Soon, stereotyped hand movements like handwashing, in addition to gait disturbances become apparent. Other problems can also show up such as seizures and disorganized breathing patterns while awake. It results in life-long disability.

It should be noted that it is a developmental disorder that does not worsen over time. It usually causes problems in the brain and impair function that is responsible for cognitive, sensory, emotional, motor, and autonomic function. Some of the symptoms of these problems can be seen in learning challenges, speech impairment, sensory sensations, moods, movement, breathing, cardiac function, as well as chewing, swallowing, and digestion. It’s a disorder that affects a large number of biological functions due to its impact on the brain.Yet, while the motor problems may increase, the irritability lessens and eye contact and communication can improve. An interesting factor of this disorder, is that it can present with a wide range of disability from being mild to severe. The degree of how much Rett Syndrome will affect an individual is determined by the location,type, and severity of her mutation and X-inactivation. As a result, two people with the same mutation, can look and behave completely different

Jordan – Irbid

*   Fatima Bint Al Yaman Comprehensive School

*    Under the supervision of Teacher: Hanan Al Omari

* Work book Student:

Nagham Jaradat and the students of the project one million blue ribbons