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Rett Syndrome

Rett Syndrome is also known as Rett’s Syndrome, and Rett's disorder. It is one of the Pervasive Developmental Disorders (Autism Spectrum Disorders) and is a progressive neurological disorder that also causes mental retardation. This disorder is found in females between 17 and 18 months of age and the symptoms can be easily confused with those of cerebral palsy or classic Autism. These female infants may start life with normal signs of development, sitting up by themselves, feeding themselves with finger foods, and beginning locomotion by bottom scooting or crawling on their stomach without the use of their hands. They may use single words and word combinations and then lose this ability as they get older. Some begin walking and then lose this skill; some do not walk until late childhood or adolescence, while others are able to walk throughout their life. Breathing abnormalities can occur and then decrease with age. Scoliosis (curvature) of the spine is a prominent feature of Rett Syndrome, and it can range from mild to severe. Despite these challenges, girls with Rett Syndrome can learn, and enjoy life well into middle age and sometimes beyond. They typically have engaging personalities, and participate in social, educational and recreational activities.

Research shows that Rett Syndrome is caused by a genetic mutation. Males with this mutation suffer from neonatal encephalopathy and usually die within approximately one year after birth. Males who have two X chromosomes and a Y chromosome (called Klinefelter's Syndrome), one with a mutated MECP2 gene, follow a development path that is similar to females with Rett Syndrome. As Rett Syndrome progresses, patients exhibit reduced muscle tone, autistic behaviors, wringing and waving of hands and loss of purposeful use of hands and motor skills. They may avoid eye contact, exhibit abnormal gait and suffer from seizures.

There are four stages of Rett Syndrome. Stage I begins between 6 and 18 months of age and is often overlooked because symptoms of the disorder may be vague, and parents may not notice that development is slowing. The child may exhibit less eye contact and reduced interest in toys, as well as delayed motor skills such as sitting or crawling. Hand wringing and decreased head growth may also occur. This typically lasts for a few months but can persist for more than a year. Stage II begins between ages 1 and 4 and can last for weeks or months, with rapid or a gradual onset as the patient loses purposeful hand skills and language skills. Characteristic hand movements like wringing, washing, clapping, or tapping begin to emerge. Patients will sometimes c.php hands behind the back or hold them at their sides, with random touching, g.phping, and releasing. Breathing irregularities may occur, though breathing is usually normal during sleep. Stage III usually begins between ages 2 and 10 and can last for years, with motor problems and seizures. There may be some improvement in behavior, with less irritability, and autistic features and more interest in environment. The patient may seem more alert and communication skills may improve. Many girls remain in this stage for most of their lives. Stage IV can last for years or decades with reduced mobility, muscle weakness, stiffness, some increased muscle tone with abnormal posturing of extremity or trunk, and curvature of the spine. Patients may stop walking. Repetitive hand movements may decrease, and eye contact usually improves.

In 1999, research uncovered the mutation of the MECP2 gene, where insufficient amounts of, or structurally abnormal forms of, protein are formed, but more research is needed to confirm this mutation as the cause of Rett Syndrome. 70% to 80% of girls with Rett Syndrome have this mutation

What are the symptoms?

Not all Rett Syndrome patients will exhibit all symptoms and some symptoms are characteristic of certain phases of the disease, and will disappear or change as the disease progresses.

• Rapidly progressing scoliosis between ages 8-14
• Seizures in many patients
• Bone fractures
• Constipation and gastrointestinal problems
• Abnormal breathing, air swallowing, holding breath
• Peripheral circulation problems
• High tolerance for pain
• Short stature
• Screaming fits, panic attacks
• Writhing or wringing hand movements
• Unusual gait
• Poor muscle tone, difficulty in swallowing
• Decreased growth and development
• Agitation, increased crying
• Loss of motor skills and communication skills
• Lack of eye contact, no interest in surrounding environment, stops socializing
• Trouble regulating body temperature
• Drooling
• Prior to onset of symptoms, development seems normal
• Slight to severe mental retardation
• Decreased head size
• Patient has trouble falling asleep and staying asleep

How is it diagnosed and treated?

Doctors will perform physical and mental evaluation to rule out other illness or disorder. Since some of the symptoms of Rett Syndrome can mimic other disorders like Autism, it is important to look for specific signs of Rett Syndrome before diagnosing and treating the patient.

• Social withdrawal and continued communication deterioration
• Normal head size at birth, decreasing thereafter
• Loss of hand skill and communication skill
• Hand wringing, squeezing, clapping, tapping
• Symptoms of mental retardation
• Normal psychomotor development for at least the first 6 months after birth
• Failing gait and muscle tone
• Disturbed breathing and sleep patterns
• Small feet and hands, poor circulation in extremities
• Normal prenatal history and early development

Treatment(s) can include:

• Nutritional supplements
• Physical and hydrotherapy
• Medications as appropriate: Anti-seizure, medication to control breathing difficulty, antidepressants, anti-psychotics, beta blockers
• Occupational therapy
• Speech and language therapy

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