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About Rubinstein-Taybi Syndrome

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Rubinstein-Taybi syndrome is a very rare condition thought to result from a chromosone 16 abnormality and affecting less than 1 in 200,000 births.

It is generally diagnosed pre-toddlerhood based on the occurance of a number of characteristic physical and developmental features rather than through genetic testing.

RTS is most commonly associated with moderate to severe learning difficulties.

Speech delay is usual but many affected individuals develop some speech and/or sign with appropriate support.

More than 3/4 of individuals are born with or develop eye abnormalities in early life and while most problems are remediable some degree of moderate visual impairment is common.

The RTS Association provide a free online book for families which is an excellent source of more detailed information and statistics based on their research.

  • RTS Support Group (UK)
    The Rubinstein-Taybi Syndrome UK Support Group is a registered charity which offers support to families and helps to raise awareness of the condition. Their site provides information, links and an active web forum.
     
  • RTS Association (US)
    This site provides a wealth of information for families and professionals. The Association maintain a mailing list providing support and discussion for affected families.
     
  • RTS at GeneTests
    Clinical references on RTS from the University of Washington focussed on the gene mutations thought to be involved and current progress towards accurate means of testing for them.
     
  • Special Friends Foundation
    The Special Friends Foundation (SFF) is a nonprofit organization established in 1997 by Chris and Carol Garavente. Their son, Louis, is diagnosed with Rubinstein Taybi Syndrome. The Special Friends Foundation is dedicated to providing information and resources to individuals with RTS and their families.