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Focus on Rett Syndrome: Who was Andreas Rett?

written by: Sharilyn Rose • edited by: Paul Arnold • updated: 4/22/2011

Andreas Rett played a key role in distinguishing Rett syndrome from other conditions, when he studied girls in his medical practice and beyond.

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    The Man Behind Rett Syndrome

    Andreas Rett is not a particularly famous man. In fact, an internet search will turn up very little, if any personal information about him. To families who have girls affected by Rett syndrome though, he is very well known and respected.

    Rett was born in Furth, Bavaria, in 1924. He studied medicine at what is now known as Innsbruck Medical University in Austria and at the German University of Bonn, breaking in the middle of his education to serve in the German navy during the war. In 1948, Rett travelled to Vienna, Austria, where he became a pediatrician and began to advocate for children and youth with special needs.

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    Andreas Rett

    First identified the symptoms of Rett Syndrome
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    Rett’s Observations

    It was in his office in Vienna in 1954 that Dr. Rett first observed what was to become one of the most notable characteristic behaviors in Rett syndromee. After watching two of his patients wringing their hands, he studied their clinical and developmental histories and captured them on film. His curiosity urged him to travel through Europe searching for other young girls who presented similar characteristics and behaviors. At that time, he had difficulty convincing others that these young ladies were suffering from the same ailment.

    In 1960, a Swedish pediatrician, Dr. Bengt Hagberg, took note of similar behaviors and characteristics in his own patients, but he did not do anything with his observations right away.

    In 1966, Rett’s discoveries and observations made their way into several esteemed German publications, but unfortunately his work was overlooked in the English-speaking medical communities and therefore did not gain widespread recognition.

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    Rett Syndrome

    Two decades passed before Rett’s work was recognized. In 1983, Dr. Hagberg and colleagues published their study, “A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls” in the Annals of Neurology, an English medical journal. The article named the disorder Rett syndrome, after Andreas Rett, and the medical world began to take notice.

    Rett syndrome is a developmental disorder which begins to appear in girls, between the ages of 6 to 18 months of age. After a period of normal development, parents begin to notice delays and loss of previously acquired skills. The symptoms of Rett’s are different for every individual and can range from mild to severe, but the ability to walk, talk and use their hands effectively are usually reduced. Many girls and women also experience seizures, feeding difficulties and breathing abnormalities. A variety of therapies and medication can help in managing symptoms but most people will require ongoing support for mobility and self-care.

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    Ongoing Research & Future Directions

    In 1999, mutations in a specific gene located on the X chromosome, were identified as the cause of Rett syndrome. Researchers have been able to replicate the abnormal MeCP2 gene and many of the characteristics of the disorder in mice. While scientists haven’t figured out exactly how or when the MeCP2 gene impacts development, they do have reason to believe that the changes may one day be reversible, although this is most likely a long way off in the future.

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    References:

    Howard Hughes Medical Institute: The Puzzle of Rett Syndrome, http://www.hhmi.org/biointeractive/neuroscience/rett_puzzle.html

    Hunter, K. (2007). The Rett Syndrome Handbook. IRSA Publishing: Clinton, MD.

    International Rett Syndrome Foundation: History of Rett Synrome., http://www.rettsyndrome.org/about-rett-syndrome/history/history-of-rett-syndrome.html

    Image Credit: By Penarc (Own work), Retrieved from http://commons.wikimedia.org/wiki/File:AndreasRett_WienerVorles_crop.jpg, April 2011.