Symptoms Of Rett Syndrome: Causes, Treatment And Management

Rett syndrome is a developmental neurological disease of childhood, exclusively a disease affecting girls. It is a rare condition characterized by normal development in first six months to 2 years, it is followed by deterioration in movement of hands, legs and gradual slow down of brain function as well as growth of the head. The child also suffers from seizures and is mentally retarded. Over a period of time the girl child losses her speech, movement and coordination.

The symptoms may be mild or severe in intensity. There is no cure of this genetic disease but early detection can help in improving the movement skills and communication of the child.

With regular physiotherapy, speech therapy, behavioral therapy and medicines the child may be able to attend school. Many girls are able to live till middle age.

What Are The Causes Of Rett Syndrome?

Rett syndrome is a rare genetic disease. It is a disease affecting almost exclusively a girl child. It affects girls because mutation occurs only in the long arm of X chromosome. The abnormal changes develop in the MECP2 gene. This gene is known to produce particular protein that is involved in proper functioning of brain and nerve cells. This gene is also known to have an influence on other genes that play a role in development of the body.

Even though the disease has genetic base, the disease is not inherited from parental genes. This means the genes of parents are normal. Hence the mutation is said to be sporadic or by chance in the DNA. If the disease occurs in boys they cannot survive after birth because there is only one X chromosome in males. The result is extremely serious for the boy to survive.

Signs And Symptoms Of Rett Syndrome

A child suffering from Rett syndrome has wide variety of symptoms. The symptoms will vary from one child to another. In the beginning for first 6 months the child’s development is normal. Changes start to develop when the baby is between 12 to 18 months. Gradual deterioration occurs at mental and physical level of the child. Following are the symptoms that develop in Rett syndrome:

  • Low muscle tone.
  • Difficulty in chewing and swallowing.
  • The child looses ability to speak.
  • Thinking and communication ability deteriorates.
  • Problem in moving hands and legs. Child faces difficulty in crawling and walking. There is unsteady gait.
  • Child looses interest in people and surrounding.
  • The size of head is small (microcephaly).
  • Irritable and crying for long period of time.
  • Drooling of saliva from mouth.
  • Laughs without any reasons.
  • Seizures
  • Sleep problems
  • Scoliosis
  • Breathing difficulty
  • Grinding of teeth
  • Constipation

Treatment And Management Of Rett Syndrome

Rett syndrome cannot be cured. The sole aim of management is to improve the symptoms. The child has to continue taking treatment for her entire life. Usually even with treatment, the child survives till middle age. Patient needs multidisciplinary treatment. It consists of medicines to treat seizures, breathing difficulty and motor difficulties. Patient is regularly monitored for heart problems and scoliosis, a type of abnormality of spine.

Patient also needs occupational therapy, physiotherapy, speech therapy, and support from parents as well as care taker. Occupational therapy will help the child to perform her regular daily activities such as dressing and feeding. Speech therapy helps the child for non verbal communication.

Special equipments such as braces, splints and will help in modifying movement of hands and legs. Braces may also be required to arrest scoliosis. Previously the survival rate of such patients was remarkably less but nowadays with proper care and treatment many children are able to live till their adulthood or middle age.