Rett Syndrome

Rett syndrome is a rare genetic disorder marked by abnormal development of the brain. Females are predominantly affected by the condition than males.

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In the initial phases of growth post birth, Rhett syndrome babies tend to elicit normal development. The adverse symptoms of the condition are typically observed six months after delivery. As the affected infants grow older, they may experience communication and motion/movement abnormalities as well as progressive problems with coordination, which can then hamper normal use of the arms, effective speech and communication, and ability to walk normally.

There is no known cure for Rett syndrome. Treatment is focused at alleviating the symptoms, especially motion and speech problems, as well as provision of care and emotional and social support for the affected children and their parents.

Symptoms

The signs and symptoms of Rett syndrome are classified into 4 stages as per their severity levels and age groups. The symptoms generally become more serious as the affected children grow older.

  • Stage 1: The symptoms that occur during the first stage, i.e., during the first six months after birth, are usually not that noticeable and hence overlooked.
  • Stage 2: The symptoms of Rett syndrome become visible 6 months after birth and become most widespread at 12 to 20 months. The abnormal changes occur over a period of some weeks or months. The most common symptoms are:
    • There is generalized slowdown in the growth and development of the child. A small head at birth, typically the first sign of the condition, becomes more prominent after 6 months have passed. There is delay in development of the brain. Delayed growth of different parts of the body also becomes evident as the child becomes older.
    • Between 12 and 20 months, there is significant loss and decline of movement and motor skills. The first sign of motor deficits is loss of control over the movement of hands; this may be ensued by reduced capacity to crawl or walk. Loss of motor skills occurs suddenly and rapidly, which later tapers and slows down.
    • Rett syndrome affected infants tend to lose their normal ability to communicate and speak. They may display an overall lack of curiosity in people, toys, and the surroundings. In some patients, there is abrupt loss of speech and other abnormal changes that occur rapidly. Proper care and support given over some time will eventually result in development of eye contact and other forms of nonverbal speech in most children.
    • Abnormal ocular motions such as recurrent blinking and shutting one eye, etc. may be observed.
    • A variety of breath problems and abnormal breathing behaviors such as holding one’s breath, apnea, uneasy fast breathing, and forceful exhalation of air or saliva is noticed in children with Rett syndrome. Such symptoms are typically seen when the child is awake and not when she/he is asleep.
    • Worsening of the symptoms can result in the onset of unusual hand movements and patterns such as rubbing of palms, squeezing the hands, clapping, tapping, and/or wringing.
    • Stages 3 and 4: It occurs between ages 2 and 10 years. Symptoms include:
      • There is a marked increase in the levels of irritation and agitation in children with Rett syndrome. They may begin crying and screaming all of a sudden and such behavior can continue for some hours. As they grow older, then tend to become more composed and calm.
      • Inexplicable onset of peculiar behaviors such as licking the hands, long sessions of unrestrained laughter, holding onto the hair or clothing and not letting go, and/or unusual facial expressions.
      • Almost half the number of children affected by Rett syndrome tend to experience seizures. The intensity of the convulsions may differ from one patient to another; some may experience sporadic muscle spasms while others may suffer from a full-blown epileptic attack.
      • Scoliosis, i.e., abnormal curvature of the spine is also widespread. It typically occurs between ages 8 and 11 years.
      • Arrhythmia or irregular heartbeat may also be noticed. It may prove deadly in some Rett syndrome patients.
      • Constipation is also quite common.

Causes of Rett syndrome

Rett syndrome is caused due to presence of errors or mutations in certain genes. However, such genetic defects are hereditary only in very rare cases.

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Rett syndrome can affect babies, infants, and children of all races. No specific risk factor can increase the vulnerability to developing the disease.

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A majority of Rett syndrome cases occur due to genetic mutations that occur at random, often at the time of egg or sperm creation, and sometimes during conception.

Rett syndrome rarely affects boys and is mostly isolated to girls. The genetic defect associated with Rett syndrome can cause a lot of damage in boys. Hence, most boys with the condition tend to die before delivery or very early in infancy.

Mild types of Rett syndrome is not deadly in boys. Male patients can grow into adults but will continue to face health and behavioral abnormalities.

Treatment

There is no known way to correct genetic mutations and hence Rett syndrome cannot be cured. Treatment is focused on regular medical care, alleviating symptoms, and preventing complications.

  • Doctors prescribe medications to control seizures, stiffness of muscles, and other abnormal symptoms.
  • Different kinds of therapy are suggested to overcome the deficits imposed by the symptoms of Rett syndrome. Physical therapy can help enhance movements; speech therapy to improve diction and communication skills; and occupational therapy to enhance hand use, impart special academic and social skills, and training in work options to ensure a non-dependent life. It may however be noted that patients may need different types of support and care for the rest of their lives.

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  • Children with Rett syndrome have limited scope of mental and physical growth and development. Proper nutrition can help exploit the full potential of such limited capacities.

Rett syndrome life expectancy

There is no average life expectancy associated with Rett syndrome as regular and/or sudden death of the patients is common, often due to aspiration, pneumonia, lack of nutrition, and seizures.

Boys usually tend to die during infancy, while affected girls may live a life marked by fits and involuntary movements. After patients successfully cross their childhood and teenage years, they may live up to 30 years with proper medical care and additional support. Some patients may even live up to 45 years.

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