Understanding Rett Syndrome-Important symptoms and Stages!
Rett syndrome usually becomes apparent when the child reaches 6 months of age. Before that period, these babies tend to develop normally. There is no cure for this disease and treatment focuses on betterment of symptoms, providing care and support. Researchers are being carried out to improve communication skills and movement of the affected people.
People with Rett syndrome can live up to 50 years of age. However, they require constant support. This disorder is caused by mutation of MECP2 gene, which is specific to X chromosome.
Signs and Symptoms of Rett Syndrome:-
1. Slowed or delayed brain development can often be detected by smaller than normal head size. It usually becomes apparent when the child becomes 6 months old. Other parts of the body may also develop at lower than desired pace.
2. Loss of motor coordination and reduction in the ability to walk or crawl starts between the ages of 12 to 18 months. Initially the loss is faster which eventually slows down.
3. Loss of cognitive abilities like verbal communication skills, reduced interest in surroundings and sudden loss of speech. They may have unusual eye movements like blinking or staring.
4. Respiratory problems: - Children with Rett syndrome may also have breathing problems like breath holding and abnormal rapid breathing. These symptoms are usually observed when the child is awake.
5. Irritability and mood changes with crying and screaming spells lasting for hours.
6. Scoliosis or abnormal curving of spine is a common symptom of Rett Syndrome. It usually begins between 8 to 11 years of age.
7. Dysrthmia or irregular heartbeat
8. Constipation
9. Seizures and epilepsy
Stages of Rett syndrome:-
1. Stage I: - In the first stage, symptoms are usually mild. The babies avert eye contact or start to lose interest in their surroundings. Developmental delays such as delayed sitting or crawling may be observed. This stage usually occurs when a child is between 6 months to 18 months of age.
2. Stage II: - Second stage usually starts between 1 to 4 years of age. Along with developmental loss, cognitive loss is also observed. The affected child may lose his ability to speak and may engage into meaningless activities such as repetitive crying and hand movements or holding the breath. He may find it difficult to move on his own.
3. Stage III: - This stage is crucial in the development of Rett syndrome and it usually begins when the child is between 2 to 10 years of age. At this stage, some improvements in behavior such as maintaining eye contact, better communication and less crying are seen.
4. Stage IV: - This is the last stage of Rett syndrome marked by muscle weakness, reduction in movement and scoliosis. Cognitive abilities do not decline further at this stage.
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