Side Effects

Retin-A is a powerful drug, and side effects can include burning eyes and peeling or reddening of the skin that lasts for weeks. This reaction is most common in teens who sunburn easily and who normally have very sensitive skin. Ironically, Retin-A makes the skin more vulnerable to ultraviolet light, causing patients to sunburn more easily. Incorrect use of Retin-A can lead to extreme irritation.

Rett syndrome A progressive neurological disorder in which children exhibit learning disabilities, poor muscle tone, autistic-like behavior, useless hand movements and hand wringing, lessened ability to express feelings, avoidance of eye contact, a lag in brain and head growth, walking abnormalities, and seizures. Loss of muscle tone is usually the first symptom.

The syndrome occurs in about one of every 10,000 to 15,000 live female births, with symptoms usually appearing in early childhood, between the ages of six months and 18 months. Experts believe that while boys can get Rett syndrome (RS), in boys the condition is fatal and they do not survive much past birth because of the difference in sex chromosomes. Females have two x chromosomes, but only one is active in any particular cell. That means that only about half the cells in a girl's nervous system will actually be using the defective gene. Because boys have a single x chromosome, all of their cells must use the faulty version of the gene, which presumably results in fatal defects.

Rett syndrome follows a tragic and irreversible course. Although the child develops normally for the first months of life, she begins to gradually deteriorate mentally and physically. As the damage to the nervous system worsens, she loses the ability to speak, begins to have trouble walking or crawling, and is shaken by seizures. One of the most striking symptoms is loss of conscious control of the hands, leading to continual, compulsive hand-wringing. Though rarely fatal, Rett syndrome nevertheless leaves its victims permanently impaired.

Predicting the severity of Rett syndrome in any individual is difficult, but in spite of the severe impairments that characterize this disorder, most children with Rett syndrome survive at least into their 40s. Girls and women with Rett can continue to learn and enjoy family and friends well into middle age and beyond. They experience a full range of emotions and show engaging personalities as they take part in social, educational, and recreational activities at home and in the community. However, the risk of death increases with age, and sudden, unexplained death often occurs, possibly from brain stem problems that interfere with breathing.

First described by Dr. Andreas Rett, the condition received worldwide recognition after research by Bengt Hagberg and colleagues was published in 1983.

Symptoms

The child with Rett syndrome usually shows an early period of apparently normal or near normal development until six to 18 months of life. A period of temporary stagnation or regression follows during which the child loses communication skills and purposeful use of the hands. Soon, stereotyped hand movements, gait disturbances, and slowing of the rate of head growth become apparent.

Most girls do not crawl typically but may "bottom scoot" without using their hands. Many girls begin independent walking within the normal age range, while others show significant delay or inability to walk independently. Some begin walking and lose this skill, while others continue to walk throughout life. Still others do not walk until late childhood or adolescence.

A girl's problems may include seizures, which can range from nonexistent to severe, but do tend to lessen in their intensity in later adolescence. Disorganized breathing patterns also may occur and tend to decrease with age. While scoliosis is a prominent feature of RS, it can range from mild to severe.

Apraxia (dyspraxia), the inability to program the body to perform motor movements, is the most fundamental and severely handicapping aspect of the condition. it can interfere with every body movement, including eye gaze and speech, making it difficult for the child to do what she wants to do. Due to apraxia and lack of verbal communication skills, an accurate assessment of intelligence is difficult. Most traditional testing methods require use of the hands or speech, which may be impossible for the girl with Rett. Some children start to use single words and word combinations before they lose this ability.

Cause

Most researchers now agree that Rett syndrome is a developmental disorder rather than a progressive, degenerative disorder as once thought. in October 1999 scientists discovered a genetic mutation on the X chromosome that has been linked to Rett syndrome. This mutation has been found in up to 75 percent of typical and atypical cases of Rett. Continued research will focus on other still unidentified genetic factors which contribute to the condition. Researchers agree that its severity is probably not linked to the exact location of individual mutations on the gene, but to the X inacti-vation patterns in each affected girl.

The gene produces part of a switch that shuts off production of as yet unidentified proteins. Experts suspect that overproduction of some proteins might cause the nervous system deterioration characteristic of the disease. Discovery of the gene will enable the unraveling of the steps of the disease process and could eventually lead to discovery of drugs to lessen the damage.

Diagnosis

Diagnosing the disorder before the child is four or five years old is often difficult. However, the discovery of the genetic mutation will lead to a genetic test to improve the accuracy of early diagnosis. if combined with an effective therapy, the

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