Grace for Rett » Grace's Life with Rett Syndrome

{About Rett Syndrome}

{The following was taken from the International Rett Syndrome Foundation’s ‘About Rett Syndrome‘ website}


Rett syndrome is a unique developmental disorder that is first recognized in infancy and seen almost always in girls, but can be rarely seen in boys.

Rett syndrome has been most often misdiagnosed as autism, cerebral palsy, or non-specific developmental delay

Rett syndrome is caused by mutations on the X chromosome on a gene called MECP2. There are more than 200 different mutations found on the MECP2 gene. Most of these mutations are found in eight different “hot spots.”

Rett syndrome strikes all racial and ethnic groups, and occurs worldwide in 1 of every 10,000 to 23,000 female births.

Rett syndrome is a developmental disorder. It is not a degenerative disorder.

Rett syndrome causes problems in brain function that are responsible for cognitive, sensory, emotional, motor and autonomic function. These can include learning, speech, sensory sensations, mood, movement, breathing, cardiac function, and even chewing, swallowing, and digestion.

Rett syndrome symptoms appear after an early period of apparently normal or near normal development until six to eighteen months of life, when there is a slowing down or stagnation of skills. A period of regression then follows when she loses communication skills and purposeful use of her hands. Soon, stereotyped hand movements such as handwashing, gait disturbances, and slowing of the normal rate of head growth become apparent. Other problems may include seizures and disorganized breathing patterns while she is awake. In the early years, there may be a period of isolation or withdrawal when she is irritable and cries inconsolably. Over time, motor problems may increase, but in general, irritability lessens and eye contact and communication improve.

Rett syndrome is confirmed with a simple blood test to identify the MECP2 mutation. However, since the MECP2mutation is also seen in other disorders, the presence of the MECP2 mutation in itself is not enough for the diagnosis of Rett syndrome. Diagnosis requires either the presence of the mutation (a molecular diagnosis) or fulfillment of the diagnostic criteria (a clinical diagnosis, based on signs and symptoms that you can observe) or both.

Rett syndrome can present with a wide range of disability ranging from mild to severe. The course and severity of Rett syndrome is determined by the location, type and severity of her mutation and X-inactivation. Therefore, two girls of the same age with the same mutation can appear quite different.

Rett syndrome presents many challenges, but with love, therapy and assistance, those with the syndrome can benefit from school and community activities well into middle age and beyond. They experience a full range of emotions and show their engaging personalities as they take part in social, educational, and recreational activities at home and in the community.


In 1954, Dr. Andreas Rett, a pediatrician in Vienna, Austria, first noticed two girls as they sat in his waiting room with their mothers. He observed these children making the same repetitive hand-washing motions. Curious, he compared their clinical and developmental histories and discovered they were very similar.

Dr. Rett checked with his nurse and learned that he had six other girls with similar behavior in his practice. Surely, he thought, all these girls must have the same disorder. Not content with studying his own patients, Dr. Rett made a film of these girls and traveled throughout Europe seeking other children with these symptoms.

Meanwhile, in 1960, young female patients in Sweden with quite similar symptoms caught the eye of their own physician, Dr. Bengt Hagberg. Dr. Hagberg collected the records of these girls and put them aside, intending to return to them when he had more time to study this curious phenomenon.

Then, in 1966, Dr. Rett published his findings in several German medical journals, which, however well-known in that part of the world, were hardly mainstream reading for much of the rest of the world’s medical community. Even after Dr. Rett published a description of the disease in English in 1977, Rett syndrome remained in the backwaters of medical concern: The pre-internet world lacked the electronic information highways taken for granted in the 21st Century.

But in 1983 an article on Rett syndrome appeared in the mainstream, English-language journal, Annals of Neurology. Written by none other than Dr. Hagberg and his colleagues, the report finally raised the profile of Rett syndrome and put it on the radar screen of many more investigators. This article was a breakthrough in communicating details of the disease to a wide audience, and the authors honored its pioneering researcher by naming it Rett syndrome.

As investigators continued to chip away at the shell of mystery surrounding Rett syndrome, increased research funding ensured that the work would continue. A team of scientists from Baylor University (Houston, TX) and Stanford University (Palo Alto, CA), toiled in the labs and clinics trying to pinpoint the cause of Rett syndrome.

A major breakthrough occurred in 1999, when a research fellow at Baylor named Ruthie Amir discovered MECP2, the gene that, when mutated, causes Rett syndrome. The discovery of the gene, located at the Xq28 site on the X chromosome was a triumph for the Baylor team, led by Huda Y. Zoghbi, MD, a professor in the departments of pediatrics, neurology, neuroscience, and molecular human genetics at the Howard Hughes Medical Institute.

The discovery that MECP2 is on the X chromosome proved that Rett syndrome is an X-linked disorder. And because only one of the two X chromosomes need have the mutation in order for it to cause the disorder, this is a dominant disorder as well. The fact that Rett syndrome is an X-linked dominant disorder also helps explain why it is usually found only in girls.

kathy cooler - July 26, 2012 - 4:10 pm

my youngest grandchild has rett ,my kids and my grandkids is what I cherish very dear to me and I treasure every moment teaching them

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