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Symptoms
By Mayo Clinic staffBabies with Rett syndrome are generally born after a normal pregnancy and delivery. Most 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 and occur over a period of weeks or months.
Rett syndrome symptoms include:
- Slowed growth. Brain growth slows after birth. Smaller than normal head size is usually the first sign that a child has Rett syndrome. It generally starts to become apparent after 6 months of age. As children with Rett syndrome get older, delayed growth in other parts of the body becomes evident.
- Loss of normal movement and coordination. The most significant loss of movement skills (motor skills) usually starts between 12 to 18 months of age. The first signs often include a decrease of hand control and a decreasing ability to crawl or walk normally. At first, this loss of abilities occurs rapidly and then continues more gradually.
- Loss of communication and thinking abilities. At ages 12 to 18 months, children with Rett syndrome typically begin to lose the ability to speak and to communicate in other ways. They may become uninterested in other people, toys and their surroundings. Some children have rapid changes, such as a sudden loss of speech. Over time, most children with Rett syndrome gradually regain eye contact and develop nonverbal communication skills.
- Abnormal hand movements. As the disease progresses, children with Rett syndrome typically develop their own particular hand patterns, which may include hand wringing, squeezing, clapping, tapping or rubbing.
- Unusual eye movements. Children with Rett syndrome tend to have unusual eye movements, such as blinking or closing one eye at a time.
- Breathing problems. These include breath-holding (apnea), abnormally rapid breathing (hyperventilation), and forceful exhalation air or saliva. These problems tend to occur during waking hours, but not during sleep.
- Irritability. Children with Rett syndrome become increasingly agitated and irritable as they get older. Periods of crying or screaming may begin suddenly and last for hours. Children become calmer between the ages of 2 and 10 years old.
- Abnormal behaviors. These may include sudden, odd facial expressions and long bouts of laughter, screaming that occurs for no apparent reason, hand licking, and grasping of hair or clothing.
- Seizures. Half or more of children who have Rett syndrome develop seizures. Symptoms vary from person to person, and they can range from periodic muscle spasms to full-blown epilepsy.
- Abnormal curvature of the spine (scoliosis). Scoliosis is common with Rett syndrome. It typically begins between 8 and 11 years of age.
- Irregular heartbeat (arrhythmia). This is a life-threatening problem for many children and adults with Rett syndrome.
- Constipation. This is a common problem in people with Rett syndrome.
Stages of Rett syndrome
Rett syndrome is commonly divided into four stages:
- Stage I. Signs and symptoms are subtle and easily overlooked during the first stage, which starts between 6 and 18 months of age. 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. Starting between 1 and 4 years of age, children with Rett syndrome gradually lose the ability to speak and to use their hands purposefully. Repetitive, purposeless hand movements begin during this stage. Some children with Rett syndrome hold their breath or hyperventilate and may scream or cry for no apparent reason. It's often difficult for them to move on their own.
- Stage III. The third stage is a plateau that usually begins between the ages of 2 and 10 years and can last for years. Although problems with movement continue, behavior may improve. Children in this stage often cry less and become less irritable. Increased eye contact and using the eyes and hands to communicate generally improve during this stage. Many people with Rett syndrome remain in stage III for the rest of their lives.
- Stage IV. The last stage is marked by reduced mobility, muscle weakness and scoliosis. Understanding, communication and hand skills generally don't decline further during this stage. In fact, repetitive hand movements may decrease. Although sudden death can occur, most people with Rett syndrome live into their 40s or 50s. They usually need care and assistance throughout their lives.
When to see a doctor
Signs 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 such as:
- Slowed growth of your child's head or other parts of her or his body
- Decreased coordination or mobility
- Decreasing eye contact or loss of interest in normal play
References
- Shultz RJ, et al. Rett syndrome. http://www.uptodate.com/home/index.html. Accessed May 14, 2010.
- What is Rett syndrome? National Institute of Child Health and Human Development. http://www.nichd.nih.gov/publications/pubs/upload/rett_syndrome_2006.pdf#page=6. Accessed May 14, 2010.
- Rett syndrome. Genetics Home Reference. U.S. National Library of Medicine. http://ghr.nlm.nih.gov/condition=rettsyndrome. Accessed May 14, 2010.
- Rett syndrome. National Institute of Child Health and Human Development. http://www.nichd.nih.gov/health/topics/Rett_Syndrome.cfm?renderforprint=1. Accessed May 13, 2010.
- Chahrour M, et al. The story of Rett syndrome: From clinic to neurobiology. Neuron. 2007;56:422.
- Hagberg B, et al. An update on clinically applicable diagnostic criteria in Rett syndrome. European Journal of Pediatric Neurology. 2002;6:293.
- Rett's Disorder. In: Diagnostic and Statistical Manual of Mental Disorders DSM-IV-TR. 4th ed. Arlington, Va.: American Psychiatric Association; 2000. http://www.psychiatryonline.com. Accessed June 8, 2010.
- Lotan M, et al. Management of young children with Rett disorder in the controlled multi-sensory (Snoezelen) environment. Brain & Development 2005;27:S88.
- Alternative therapeutic intervention for individuals with Rett syndrome. The Scientific World Journal. 2007;29:698.
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