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Rett syndrome – Life Expectancy, Pictures, Symptoms, Causes, Treatment

Updated on September 12, 2013

Rett syndrome is a condition caused due to random genetic mutations, which can happen at the time of the formation of the sperm or egg; or during conception. In very rare cases, the genetic mutation is inherited. It is an uncommon genetic disorder that affects the development of brain.

Rett syndrome mostly affects the female gender. Generally, babies affected by this syndrome tend to have normal growth. The symptoms of Rett syndrome begin to appear six months after birth. When the patients grow older, they experience difficulties in coordinated body movements, and communication. The normal capacity of walking, arm use, and speech are affected leading to communicational difficulties.

At present there is no cure for Rett syndrome. The current treatments focus on improving the basic skills required for normal communication, and medical and therapeutic care to enhance the movements of the affected hands or legs.

Symptoms of Rett syndrome

The anomalies become prominent between 12 to 18 months. The related abnormal changes appear within a period of a few weeks or a few months. The following are some of the symptoms of Rett syndrome:

  • Communication abnormalities: There is loss or lack of communicational skills or speech at the age of 12 to 18 months. In some children, the loss may be sudden and abrupt. Generally, they show a lack of interest in toys, people, and the surroundings. Better care may improve their nonverbal communication, such as maintaining eye contact.
  • Loss of motor skills: The control on movements of hands and legs tends to reduce between 12 and 19 months for infants suffering from Rett syndrome. The loss of movement first occurs in hands and then the disorder is noticed in the ability to crawl or walk. In the initial stages, the loss of motor skills is abrupt. Later, there is gradual deterioration of the motor abilities in infants affected by Rett syndrome.
  • Growth and development anomalies: The first sign that one can notice in babies with Rett syndrome is that they have an unusually small head. In general, the overall growth rate of the baby is characterized with deficient and reduced growth, which becomes more apparent after six months. The post-birth brain development is also delayed. There are still a number of other developmental delays and disorders which become evident when the affected infants grow older.
  • Breathing abnormalities: Children with Rett syndrome experience apnea, excess flow of saliva and vigorous exhalation of air, rapid and difficult breathing, etc. These anomalies occur while awake and not in sleep.
  • Irregular movement of eyes: Ocular anomalies such as excessive blinking or closure of just one eye at a time can be observed.
  • Abnormal behavior: As the babies affected with Rett syndrome grow up, they become increasingly agitated and irritable. They may cry and scream all of a sudden, which may continue for many hours. They normally remain calm in the period between ages between 2 to 10 years.
  • Onset of seizures: About half of the Rett syndrome patients, develop seizures. They may elicit varied forms of convulsions that range from sporadic muscle spasms to a severe epileptic attack.
  • Unusual behaviors: Children with Rett syndrome often elicit odd behaviors and habits such as continuous laughing, screaming, hand licking, unusual facial expressions, and clutching their apparels or hair.
  • Constipation: Children with Rett syndrome may experience acute or chronic constipation.
  • Irregular heart beat: Affected children may also suffer from disorders of the heart beat or even life-threatening arrhythmia.
  • Scoliosis: It is quite common and often has an onset between 8 and 11 years of age.
  • Development peculiar hand gestures and patterns: As Rett syndrome progresses in affected children, they develop atypical hand patterns and gesticulations like squeezing, wringing, tapping, rubbing, clapping, etc.

Causes of Rett syndrome

  • Rett syndrome mostly affects the girl child and is very rare in a male child. This syndrome is dangerous for male child, because boys with this disorder die before birth or during early infancy.
  • Mild form of Rett syndrome in boys is not as dangerous. They grow up to be normal adults, but the behavioral and health problems continue to exist.
  • Genetic mutation is the main cause for Rett syndrome. This disorder is rarely inherited.

Treatment of Rett syndrome

There is no cure for Rett syndrome. It occurs among people from all ethnicities. The treatment methodology includes:

  • Proper and regular medical care
  • Special training to cope with social, academic, and work aspects of life.
  • Occupational, communicational, and physical therapy
  • Other forms of support that are available and necessary

Varied types of treatment include:

  • Controlling muscle stiffness, convulsions, and other signs through medications.
  • Speech therapy for improving communicational skills
  • Physical therapy for helping movements
  • Occupational therapy for better and effective use of hands
  • Providing enough nutrition for realization of the limited but full potential of their mental, physical, and other developmental abilities

Life Expectancy

The symptoms deteriorate in children till they attain teenage. Once they reach adolescence, the symptoms begin to subside. The average life expectancy of a person with Rett Syndrome is 45 and many people have been observed to cross the age of 30 easily. The reason for death is usually pneumonia, aspiration, seizure and lack of nutrition.

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