This year’s Annual Rett Awareness event is being held at Govindaswami Centre, at NIMHANS Bangalore on Sunday, October 14, 2018 from 9 am onwards. Please reach by Oct 12.

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What is Rett Syndrome?

Rett Syndrome is a unique neurodevelopmental disorder that is first noticed in infancy and primarily affects girls, but can be rarely seen in boys. Rett syndrome has been most often misdiagnosed as autism, cerebral palsy, or global developmental delay. Rett syndrome is found in all ethnic and racial groups and occurs worldwide in 1 of every 10,000 to 15,000 female births.

Rett Syndrome was discovered by Dr. Andreas Rett in 1966 when he published his finding in German medical journal but Rett syndrome got the attention of scientific community only after 1983 when Dr. Hagberg published his similar findings on Rett syndrome in an English-language journal and named the disease as Rett syndrome after the name of Dr. Andreas Rett.

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About Rett Syndrome

 

Symptoms of Rett syndrome 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 the girl loses communication skills and purposeful use of her hands. Soon, repetitive hand movements such as hand washing, hand clenching, clapping, hand mouthing, wringing and tapping start appearing along with walking problems, and slowing of the normal rate of head growth. Other problems may include seizures, bruxism, scoliosis, digestion problems and breathing problems 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.

A major discovery in 1999 by Ruthie Amir showed that MECP2 gene (present on X chromosome) mutations causes Rett syndrome. This discovery proved that Rett syndrome is an X-linked disorder. Rett is X-linked dominant disorder as only one of the two X chromosomes need to have the mutation in order for it to cause the disorder and that is why it is usually found only in girls.

There are more than 300 different mutations found on the MECP2 gene. Most of these mutations are found in eight different “hot spots.” MeCP2 protein helps in brain development and mutations in MECP2 gene causes abnormal functioning of brain 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 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 mutation and X-inactivation. Therefore, two girls of the same age with the same mutation can appear quite different.

Currently there are no effective treatments for Rett Syndrome. Most girls survive into adulthood and require total, 24-hour-a-day care.

In 2007 the journal Science published the work of Dr. Adrian Bird,  demonstrating the reversal of Rett Syndrome in mature mouse models with late stage disease. Only days away from death, these animals recovered normal function and became indistinguishable from healthy mice in a matter of weeks.

This remarkable success has projected the Rett syndrome research to a new area of possibility and positions Rett Syndrome to be the first curable childhood neurological disorder. The future of children and adults with Rett Syndrome depends on research. Without it, they will be completely dependent and locked in for the rest of their lives.

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

 

Words of Dr. Andreas Rett about Rett Girls and their Families:

"They feel all the love given to them. They have a great sensitivity for love. I am sure of this. There are many mysteries, and one of them is the girls’ eyes. I tell all the parents to look at their eyes. The eyes are talking to them. I am sure the girls understand everything, but they can do nothing with the information."

"It is the parents who make most of the diagnoses, not the doctors, who often tell mothers that they are hysterical. Such doctors are very wrong - they know nothing, but say something."

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A father speaks about Rett syndrome

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