What is Rett Syndrome ?
Rett Syndrome is an inherited disorder of the nervous system and which causes reversals of development. These developmental reversals are more prominent in the use of expressive language and the hands.
Rett syndrome is exclusively prevalent in girls. Boys who develop the disorder die very early. Girls with the disorder may grow and learn normally, but after a few years the development stops and the loss of skills start.
Rett Syndrome Symptoms
Some of the symptoms of Rett syndrome are listed below:
- The development of an individual undergoes many changes and reversals.
- Difficulties in breathing- The breathing problems worsen with stress. When one is sleeping, the breathing is normal but tends to cause discomfort and difficulties when awake
- Increase in the production of saliva as well as drooling
- Decrease in the growth of head which often begins in some months after birth.
- The classic sign of Rett disorder is the presence of floppy or flaccid arms and legs
- Seizures or spasms
- There are defects in intellect as well as disabilities in learning. However, due to defects in speech and hand movements, it is difficult to diagnose cognitive skills impairment in individuals with Rett syndrome.
- Sleep disturbances leading to loss or disruptions of sleep patterns.
- Walking on toes or an unsteady, shaky or stiff posture
- Severe gastroesophageal reflux and constipation that is recurrent and continuous.
- Severe deficits in language development
- Loss or decrease in decisive hand motions such as; replacement of the grasp feature of hands that is used to hold objects, by compulsive hand movements like constant wringing of hands or repetitive sucking of hands or fingers.
- Loss or decrease in social engagement skills
- Bluish color of the arms and legs due to impaired circulation of oxygen rich blood.
Rett syndrome Causes
- A defect in the MeCP2 gene on the X chromosome leads to the development of Rett syndrome.
- Girls with Rett syndrome survive due to the presence of two X chromosome as against boys who succumb to the disorder due to only one X chromosome in their body cells.
Rett syndrome Treatment
Treatment for Rett syndrome includes:
- Feeding assistance, treatment for constipation, weight bearing exercises for individuals with scoliosis and physical therapy to improve hand motions.
- Medications and supplements like Bromocriptine, L-carnitine, etc for treating seizures, improving language skills and other symptoms of Rett syndrome.
- Stem cell therapy or other forms of gene therapy may be used to treat Rett syndrome.
Support Groups for Rett Syndrome
International Rett Syndrome Association – www.rettsyndrome.org
Rett Syndrome Pictures
Rett Syndrome Picture 1 : Autism spectrum disorders
Image source : binghamton.edu
Picture 2 : A child with Rett Syndrome
Photo source : medindia.net
Picture 3: Spine is curved from side to side in Rett Syndrome (Scoliosis)
Image source : empowher.com
Photo 4 : Scoliosis in Rett syndrome and X ray view