KYPT - Types of Disability

Syndrome Disorders and Rare Contitions

According to Merriam Webster’s Medical Dictionary, a syndrome is “a group of signs and symptoms that occur together and characterize a particular abnormality.” This topic is intended to put you in touch with a wide variety of low incidence conditions which can effect human growth and development. Our first link is to an organization called the National Organization for Rare Disorders. It says that there are over 6,000 such conditions and that they affect about 25,000,000 people in the USA alone. You or a member of your family may have one of these conditions. Obvious most of these conditions do not lead to someone needing special education, but many can.

As you work with students with moderate and severe disabilities, you are certainly interacting with individuals who have some of these conditions. At one time not so long ago, the records of people with these conditions would said, “there is no identifiable cause for this condition.” The advances in genetic research over the last few years have now enabled us to trace the basic genetic and chromosomal differences for many conditions. So some understanding of genetics is important as we discuss syndrome disorders. Nevertheless, look at the definition again. It does not say a syndrome has to be a genetic condition. A syndrome disorder can have other causes; the best example of this is Fetal Alcohol Syndrome. This group of distinctive characteristics is caused by a mother’s consumption of alcohol during pregnancy.

There is a lot here. We do not expect you to become a master of genetics and thousands of conditions! Prepare your notebook with a focus on the large issues of the challenge of providing support to people with very rare and distinctive conditions. Why is this important? Why do teachers and others need some of this information? The first four links will give you plenty of information for completing that task. Then switch focus and look into the Disorder Zone (#4). Choose five of the numerous syndrome conditions listed and read about them. Finally, prepare a half a page summary of what you learned. Remember — you cannot do it on some of the conditions like Down syndrome or Asperger syndrome that are discussed on other pages. In making your choice, you may want to first select conditions that one of your peers has. The added links and the information in the disorder zone will make this fairly manageable.

National Organization for Rare Disorders (NORD) is a unique federation of voluntary health organizations dedicated to helping people with rare "orphan" diseases and assisting the organizations that serve them. NORD is committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and service. According to NORD “A rare disorder affects fewer than 200,000 people in the United States. There are more than 6,000 rare disorders that, taken together, affect approximately 25 million Americans.”
Genetics and Mental Retardation is a four-page newsletter published by the Arc's Human Genome Education Project. It highlights the ethical, legal and social issues surrounding genetic research and mental retardation. It provides a background on genetic and how it causes many forms for disability. Additional material pursuing this question in greater depend can be found at the Human Genome Education Project Web page.
Diagnosis Search at Specialkids.com provides a forum for parents who are anxiously searching for a diagnosis of their child’s condition. A photograph and description of the child’s characteristics are posted. Be sure to follow the link at the bottom of the first page to see the remaining 19 children who are listed. Click on the picture on the second page to see the information about the child. Note the three children whose diagnoses have been found.
The Disorder Zone provides information on 40 conditions; of these, 29 are described as syndrome disorders. The site authors note that, “This site has been created for educational purposes only and is not intended to serve as medical advice. The information provided in The Disorder Zone should not be used for diagnosing or treating a health problem or disease. It is not a substitute for professional care. If your child has any health concerns, please consult your health care provider.”

Links to disorder specific organizations

Angelman Syndrome Foundation (ASF) Foundation established to help answer questions and provide a network of information, education and support resources to Angelman Syndrome families and friends.
CHARGE Syndrome Association Provides information about CHARGE syndrome, related disorders, therapies and outcome.
Fetal Alcohol Syndrome Family Resource Institute
The mission of the Institute is to identify, understand and care for individuals disabled by prenatal alcohol exposure and their families, and to prevent future generations from having to live with this disability.
National Organization on Fetal Alcohol Syndrome (NOFAS) is a nonprofit organization founded in 1990 dedicated to eliminating birth defects caused by alcohol consumption during pregnancy and improving the quality of life for those individuals and families affected. NOFAS, the only national organization focusing solely on FAS, takes a multicultural approach to prevention and healing.
FRAXA Research Foundation was founded in 1994 by three parents of children with fragile X syndrome, Katie Clapp, Michael Tranfaglia, MD, and Kathy May, to support scientific research aimed at finding a treatment and a cure for fragile X syndrome. Fragile X research is drastically underfunded, considering its high prevalence, prospects for a cure, and the promise that this research holds for advancing understanding of other disorders like autism, Alzheimer's disease, and X-linked mental retardation.
The American Association for Klinefelter Syndrome Information and Support (AAKSIS) was incorporated on December 14, 1999. AAKSIS (pronounced "access") is a national volunteer organization with the mission of education, support, research and understanding of XXY and its variants, collectively known as Klinefelter Syndrome.
Prader-Willi Syndrome Association (USA) ( PWSA(USA)) The Prader-Willi Syndrome Association was organized in the United States in 1975 to serve as an international vehicle of communication about Prader-Willi syndrome .
Tourette Syndrome Association, Inc., (TSA) Founded in 1972 in Bayside, New York, this is the only national voluntary non-profit membership organization in this field. Its mission is to identify the cause of, find the cure for, and control the effects of this disorder.
Support Org. for Trisomy 18, 13 and Related Disorders , (SOFT) Organization offers support and education for parents of children with a chromosome disorder, particularly trisomy 13 and 18.
Williams Syndrome Association (WSA) was formed in 1982 by, and for families of individuals with Williams syndrome. It is the only group in the nation devoted exclusively to improving the lives of individuals with Williams syndrome and their families. The association supports research into all facets of the syndrome, and the development of educational materials regarding Williams syndrome.

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