Overview

Rett syndrome is a rare genetic neurological and developmental disorder that affects the way the brain develops, causing a progressive inability to use muscles for eye and body movements and speech. It occurs almost exclusively in girls.

Most babies with Rett syndrome seem to develop normally at first, but after about 6 months of age, they lose skills they previously had — such as the ability to crawl, walk, communicate or use their hands.

Over time, children with Rett syndrome have increasing problems with the use of muscles that control movement, coordination and communication. Rett syndrome can also cause seizures and intellectual disability.

Although there's no cure for Rett syndrome, potential treatments are being studied. Current treatment focuses on improving movement and communication and providing care and support for children and adults with Rett syndrome and their families.

Source: http://www.mayoclinic.com

Symptoms

Babies with Rett syndrome are generally born after a normal pregnancy and delivery. The age at which symptoms begin and their severity and associated disability varies widely among individuals. However, most babies with Rett syndrome seem to grow and behave normally for the first six months. After that, signs and symptoms start to appear.

The most pronounced changes generally occur at 12 to 18 months of age, suddenly, or over a period of weeks or months.

Rett syndrome signs and symptoms include:

• Slowed growth. Brain growth slows after birth. Smaller than normal head size (microcephaly) is usually the first sign that a child has Rett syndrome. As children get older, delayed growth in other parts of the body becomes evident.
• Loss of normal movement and coordination. The first signs often include reduced hand control and a decreasing ability to crawl or walk normally. At first, this loss of abilities occurs rapidly and then it continues more gradually. Eventually muscles become weak or may become rigid or spastic with abnormal movement and positioning.
• Loss of communication abilities. Children with Rett syndrome typically begin to lose the ability to speak, to make eye contact and to communicate in other ways. They may become disinterested in other people, toys and their surroundings. Some children have rapid changes, such as a sudden loss of speech. Over time, most children gradually regain eye contact and develop nonverbal communication skills.
• Abnormal hand movements. Children with Rett syndrome typically develop repetitive, purposeless hand movements that may differ for each person. Hand movements may include hand wringing, squeezing, clapping, tapping or rubbing.
• Unusual eye movements. Children with Rett syndrome tend to have unusual eye movements, such as intense staring, blinking, crossed eyes or closing one eye at a time.
• Breathing problems. These include breath-holding, abnormally rapid breathing (hyperventilation), forceful exhalation of air or saliva, and swallowing air. These problems tend to occur during waking hours, but not during sleep.
• Agitation and irritability. Children with Rett syndrome become increasingly agitated and irritable as they get older. Periods of crying or screaming may begin suddenly, for no apparent reason, and last for hours.
• Other abnormal behaviors. These may include, for example, sudden, odd facial expressions and long bouts of laughter, hand licking, and grasping of hair or clothing.
• Cognitive disabilities. Loss of skills can be accompanied by a loss of intellectual functioning.
• Seizures. Most people who have Rett syndrome experience seizures at some time during their lives.
• Abnormal curvature of the spine (scoliosis). Scoliosis is common with Rett syndrome. It typically begins between 8 and 11 years of age and increases with age. Surgery may be required if the curvature is severe.
• Irregular heartbeat. This is a life-threatening problem for many children and adults with Rett syndrome and can result in sudden death.
• Pain. Because of health problems, people with Rett syndrome may have an increased risk of pain. But communication problems may prevent others from recognizing these pain issues. In one small study, one-fourth of the parents estimated that their daughters have more than a week of pain each month.
• Other symptoms. A variety of other symptoms can occur, such as thin, fragile bones prone to factures; small hands and feet that are usually cold; problems with chewing and swallowing; and teeth grinding. Symptoms can vary greatly from child to child.

Stages of Rett syndrome

Rett syndrome is commonly divided into four stages:

• Stage I: early onset. Signs and symptoms are subtle and easily overlooked during the first stage, which starts between 6 and 18 months of age and can last for a few months or a year. Babies in this stage may show less eye contact and start to lose interest in toys. They may also have delays in sitting or crawling.
• Stage II: rapid destruction. Starting between 1 and 4 years of age, children lose the ability to perform skills they previously had. This loss can be rapid or more gradual, occurring over weeks or months. Symptoms of Rett syndrome occur, such as slowed head growth, abnormal hand movements, hyperventilating, screaming or crying for no apparent reason, problems with movement and coordination, and a loss of social interaction and communication.
• Stage III: plateau. The third stage usually begins between the ages of 2 and 10 years and can last for many years. Although problems with movement continue, behavior may have limited improvement, with less crying and irritability, and some improvement in hand use and communication. Seizures may begin in this stage and generally don't occur before the age of 2.
• Stage IV: late motor deterioration. This stage usually begins after the age of 10 and can last for years or decades. It's marked by reduced mobility, muscle weakness, joint contractures and scoliosis. Understanding, communication and hand skills generally remain stable or improve slightly, and seizures may occur less often.

When to see a doctor

Signs and symptoms of Rett syndrome can be subtle in the early stages. See your child's doctor right away if you begin to notice physical problems or changes in behavior after apparently normal development, such as:

• Slowed growth of your child's head or other parts of the body
• Decreased coordination or mobility
• Repetitive hand movements
• Decreasing eye contact or loss of interest in normal play
• Delayed speech development or loss of previously acquired speech abilities
• Problem behavior or marked mood swings
• Any clear loss of previously gained milestones in gross motor or fine motor skills

Source: http://www.mayoclinic.com

Causes

Rett syndrome is a rare genetic disorder. Classic Rett syndrome, as well as five known variations (atypical or variant) with milder or more severe symptoms, can occur based on the specific genetic mutation.

The genetic mutation that causes the disease occurs randomly, usually on the MECP2 gene. Only in a few cases is this genetic disorder inherited. The mutation appears to result in problems with the protein production critical for brain development. However, the exact cause is not fully understood and is still being studied.

Rett syndrome in boys

Because males have a different chromosome combination from females, boys who have the genetic mutation that causes Rett syndrome are affected in devastating ways. Most of them die before birth or in early infancy.

A very small number of boys have a different mutation that results in a less destructive form of Rett syndrome. Similar to girls with Rett syndrome, these boys will likely live to adulthood, but they're still at risk of a number of intellectual and developmental problems.

Source: http://www.mayoclinic.com

Diagnosis

Diagnosing Rett syndrome involves careful observation of your child's growth and development and answering questions about medical and family history. The diagnosis is usually considered when slowing of head growth is noticed.

For a diagnosis of Rett syndrome, other conditions with similar symptoms must be ruled out.

Evaluating other causes for the symptoms

Because Rett syndrome is rare, your child may have certain tests to identify if other conditions are causing some of the same symptoms as Rett syndrome. Some of these conditions include:

• Other genetic disorders
• Autism
• Cerebral palsy
• Hearing or vision problems
• Metabolic disorders, such as phenylketonuria (PKU)
• Disorders that cause the brain or body to break down (degenerative disorders)
• Brain disorders caused by trauma or infection
• Brain damage before birth (prenatal)

What tests your child needs depends on specific signs and symptoms. Tests may include:

• Blood tests
• Urine tests
• Imaging tests such as magnetic resonance imaging (MRI) or computerized tomography (CT) scans
• Hearing tests
• Eye and vision exams
• Brain activity tests (electroencephalograms, also called EEGs)

Criteria for diagnosis

A diagnosis of classic Rett syndrome includes these core symptoms:

• Partial or complete loss of purposeful hand skills
• Partial or complete loss of spoken language
• Walking abnormalities, such as problems walking or not being able to walk
• Repetitive purposeless hand movements, such as hand wringing, squeezing, clapping or tapping, putting hands in the mouth, or washing and rubbing movements

Additional typical symptoms can support the diagnosis.

Diagnostic criteria for atypical or variant Rett syndromes may vary slightly, but the symptoms are the same, with varying degrees of severity.

Genetic testing

If your child's doctor suspects Rett syndrome after evaluation, he or she may recommend a genetic test (DNA analysis) to confirm the diagnosis. The test requires drawing a small amount of blood from a vein in the arm. The blood is then sent to a lab, where technicians examine your child's DNA for abnormalities and clues as to the cause and severity of the disorder.

Source: http://www.mayoclinic.com

Complications

Complications of Rett syndrome include:

• Needing lifelong care and assistance with activities of daily living
• Sleep problems, including unusual sleep patterns such as falling asleep during the day or waking up at night
• Difficulty eating, leading to poor nutrition and delayed growth
• Constipation, which can be a severe, ongoing problem, as well as other gastrointestinal (GI) problems, such as gastroesophageal reflux disease (GERD)
• Muscle and joint problems
• Anxiety and problem behavior that may compromise social functioning
• Shortened life span — people with Rett syndrome don't live as long as most people because of heart problems and other health complications

Source: http://www.mayoclinic.com

Prevention

There's no known way to prevent Rett syndrome. In most cases, the genetic mutation that causes the disorder occurs spontaneously. Even so, if you have a child or other family member with Rett syndrome, you may want to ask the doctor about genetic testing.

Alternative medicine

A few examples of complementary therapies that have been tried in children with Rett syndrome include:

• Music therapy
• Hydrotherapy, which involves swimming or moving in water
• Animal-assisted therapy, such as using therapy dogs or therapeutic horseback riding

Although there's not much evidence that these approaches are effective, some parents who have used them report good results.

If you think alternative or complementary therapies might help your child, talk to your doctor or therapist about the possible benefits and risks, and how the approach might fit into the medical treatment plan.

Source: http://www.mayoclinic.com

Coping and support

Children with Rett syndrome need help with most daily tasks, such as eating, walking and using the bathroom. This constant care can be exhausting and stressful for families. And in one study, for example, seizures were linked to higher levels of stress for parents whose daughters have Rett syndrome.

To better cope with the challenge:

• Find ways to relieve stress. It's natural to feel overwhelmed at times. Talk about your problems with a trusted friend or family member to help relieve your stress. Take some time for yourself doing something you like to recharge your battery.
• Arrange for outside help. If you care for your child at home, seek the help of outside caregivers who can give you a break from time to time. Or you may consider residential care at some point, especially when your child becomes an adult.
• Connect with others. Getting to know other families facing problems similar to yours can help you feel less alone. Look for online support and information from organizations such as the International Rett Syndrome Foundation.

Source: http://www.mayoclinic.com

Risk factors

Rett syndrome is rare. The genetic mutations known to cause the disease are random, and no risk factors have been identified. In a few cases, inherited factors — for instance, having close family members with Rett syndrome — may play a role.

Source: http://www.mayoclinic.com