Rett Syndrome

Austrian pediatrician, Dr. Andreas Rett discovered the disease in 1954. He first noticed the signs as he observed 2 girls in his waiting room. Both children were making odd repetitive wringing motions with their hands. Dr. Rett found this strange and when he spoke with his nurse, he was informed that there were 6 other girls in his practice who exhibited the same characteristics.

Dr. Rett made it his goal to find other girls with similar symptoms and began carrying out a mass research project. In 1966, Dr. Rett finally identified the disease but it wasn't until 1999 that it was discovered that 80% of the children with Rett Syndrome had a mutation of the X chromosome.

Rett Syndrome is often misdiagnosed as Autism, Cerebral Palsy and non-specific developmental delay. In fact, until recently (and still seen in some sources) Rett Syndrome was included in the Spectrum of Autism Disorders. Recent research differentiates RS from other Autism Spectrum Disorders.

Many people today are aware of Autism and a few of the Autism Spectrum Disorders. There's widespread awareness of General Autism, Asperger's Syndrome and even Childhood Disintegrative Disorder but many people do not know about Rett syndrome. In fact, Rett syndrome is often misdiagnosed as autism because it shares many of the developmental symptoms.

Rett Syndrome is a disorder of the nervous system that leads to a reverse in development, especially when it comes to language expression and hand usage. Similar to the other Autism Spectrum Disorders, the symptoms of this disorder is first recognized in infancy.

Rett Syndrome rarely seen in boys and more often seen in girls.

• Floppy arms and legs (usually the first sign)-- loss of muscle tone
• Shaky, unsteady walk; or toe walking--difficulty crawling or walking
• Mental Retardation and other intellectual/learning disabilities
• Severe problems in language development and loss of speech
• Apraxia - a neurological problem that hinders a person from doing simple tasks (e.g. walking or grasping)
• Developmental issues
• Socializing difficulties
• Inability to maintain eye contact

Rett Syndrome is a developmental disorder, not a degenerative disorder therefore it does not worsen but it does progress in stages.

Usually, until the age of 6-18 months old, there is normal development. Then, after 18 months old, the skills of children afflicted with Rett Syndrome become depressed or stagnant. They then go through a period of regression, losing their ability to communicate or effectively use their hands to grasp and make gestures such as waving.

After the slowing down of normal infant/toddler skills, children with Rett begin experiencing symptoms typical to the Autism Spectrum Disorders. They begin doing repetitive movements with their hands, such as wringing or flapping their hands and the inability to maintain eye contact.

Other problems that arise are then seizures, unstable breathing patterns, irritability, and the increase in  motor control problems.

What makes a female a female is the two X chromosomes (as opposed to the XY chromosome of males). Rett Syndrome may be caused by a defect of a binding protein gene on the X chromosome and since females have 2 X chromosomes, they are more likely to survive with this disease.

Males born with this disease do not have a back-up X chromosome so the defect is usually solved by miscarriage, stillbirth or even death in infancy. This is why the disease is more often seen in females.

Genetic testing is the only surefire way of diagnosing RS because signs and symptoms are shared by other disorders.

1) Classical Rett Syndrome

This is the type of RS most commonly seen. The symptoms of RS meets all the diagnostic criteria (the patient displays all or most of the RS symptoms and normal progression of stages).

2) Provisional Rett Syndrome

Some of the symptoms appear between ages 1 and 3 as opposed to the typical exhibition of symptoms around 18 months of age.

3) Atypical Rett Syndrome

Atypical Rett Syndrome begins soon after birth or later than 18 months old (sometimes even at the age of 3 or 4 years old). RS can also be classified as atypical if it appears in a male or if speech and hand skill problems are mild.

Unfortunately, there is no cure for Rett Syndrome, however stem cell therapy coupled with gene therapy have been shown to be helpful. Other treatments include physical therapy and weight bearing exercises (especially for those with scoliosis).

For RS patients with delayed or retarded growth, tube and supplemental feedings may be necessary. Diets high in fats and high caloric intakes is also very helpful. There are also medications such as L-Dopa and Bromocriptine that help ease some of the symptoms of RS.

The prognosis for patients with Rett Syndrome differers from patient to patient. The condition slowly progresses until patients reach adolescence. In some cases, symptoms such as breathing problems and seizures begin to improve in the teenage years. Some children afflicted with Rett syndrome can learn to walk independently while others never learn.

The average life expectancy of a patient with RS can be the mid-40s though life expectancy studies have not yet been well-established. Cause of death is not from the disorder itself but from its severe symptoms (i.e. seizures and malnutrition).

With more awareness and research of this disease, more treatments can be found and hopefully, one day there will be a cure.

Below is a video of a family affected directly by Rett Syndrome.