Rett Syndrome (page 4)

NICHCY's Connections pages are designed to put you in quick contact with information that's readily available on the Internet. We're pleased to offer this particular resource page to connect you with sources of information about children and youth with Rett Syndrome. This page is part of a "suite" of pages on disorders along the autism spectrum. The suite includes:

• Autism
• Asperger Syndrome
• Rett Syndrome (you're here!)
• Childhood Disintegrative Disorder, and
• PDDNOS, Pervasive Developmental Disorder Not Otherwise Specified

Why a Suite of Different Pages?

Why are we designing these resources pages as part of a suite? How and why are they connected to one other? The answer lies in the Diagnostic and Statistical Manual of Mental Disorders (DSM). The DSM is the guide typically used by physicians and mental health professionals to diagnose the five disorders listed above. Published by the American Psychiatric Association, the latest edition of the DSM came out in 2000 and is known as the DSM-IV-TR (meaning the fourth edition, text revision). It lists the symptoms associated with each of the five disorders. Most importantly, it also groups all five disorders under the "umbrella" category of Pervasive Developmental Disorders, or PDD. Why? Because these disorders share in common the following characteristics: impairments in social interaction, imaginative activity, verbal and nonverbal communication skills, and a limited number of interests and activities that tend to be repetitive.

The Umbrella Category: PDD

The term Pervasive Developmental Disorders was first used in the 1980s to describe a class of disorders with similar symptoms or characteristics. The term occasionally causes some confusion, because one of the disorders underneath the umbrella has a very similar name---PDDNOS (Pervasive Developmental Disorder Not Otherwise Specified). As a result, PDD and PDDNOS are sometimes used interchangeably. A doctor, for example, may tell a parent that his or her child has PDD. This may stir up confusion further down the diagnostic and treatment road, because PDD actually refers to the overall category of disorders. It's not a diagnostic label. Some doctors, however, are hesitant to diagnose very young children with a specific type of PDD, such as Autistic Disorder or Asperger's Syndrome, and therefore only use the general category label of PDD. In other cases, the doctor may say PDD as a shorter way of talking about PDDNOS.

To avoid this confusion, our suite of pages will use the term PDD to refer to the overall category of Pervasive Developmental Disorders and the term PDDNOS to refer to the specific disorder, Pervasive Developmental Disorder Not Otherwise Specified.

This particular page connects you with resources on Rett Syndrome.

Rett Syndrome v. Rett's Disorder v. Rett's Syndrome?

In the DSM-IV-TR, the manual used to diagnose mental conditions, "Rett's Disorder" is the term used for this disorder (American Psychiatric Association, 2000). However, it is also known as Rett or Rett's Syndrome, as you will see when you visit the various Web sites and read materials on this disability. Therefore, you will see all three terms used throughout the remainder of this resource page.

The resources we've listed aren't intended to be exhaustive of those available. We'll be adding to this page throughout the year, so you may wish to check back every now and again to see what's new!

What is Rett Syndrome?

• The DSM diagnostic criteria for Rett Syndrome.
  www.autism-society.org/site/PageServer?pagename=PDD#rett
  Without explanation or elaboration, here's the criteria for Rett Syndrome as it appears in the DSM-IV-TR.
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• Contrast DSM criteria for Rett's with the other PDD disorders.
  www.nichcy.org/pubs/factshe/fs20txt.htm
  NICHCY offers a briefing paper on PDD that includes an overview to the umbrella category under which mental health professionals have placed Rett Syndrome. This includes the DSM criteria that are used to diagnose the disorder. You may also find it helpful to see these criteria contrasted with those used to diagnose the four other disorders under the PDD umbrella.
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• Did you know there's another set of criteria?
  www.rettsyndrome.org/main/diagnostic_criteria.htm
  The International Rett Syndrome Association (IRSA) convened a panel of experts in 2001. One of their aims was to establish as simple a data set as possible to assist physicians in making the clinical diagnosis of RS. The meeting resulted in an updated set of diagnostic/clinical criteria, which are described at the link above.
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• RS101: Introduction to Rett Syndrome.
  www.rettsyndrome.org/main/toc-what-is-rett-syndrome.htm
  Dive in deep at the International Rett Syndrome Association. Here, you can read all about this disability, including characteristics, stages of the disorder, diagnosis, treatment, and education. You can also find state and local chapters who can help you in your neck of the woods. You want info on RS? It's all here, including the kitchen sink!
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• About RS.
  www.rsrf.org/about_rett_syndrome/
  Rett Syndrome Research Foundation (RSRF) offers "About Rett Syndrome" as well as information about diagnosis and the gene found to be involved in RS.
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• What does the National Institute of Neurological Disorders and Stroke have to say about Rett Syndrome?
  www.ninds.nih.gov/disorders/rett/detail_rett.htm
  The link above will lead you to NINDS' page on Rett Syndrome, where you can read an overview of the disability, find links to helpful organizations, and learn about research studies being conducted by NINDS.
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• From the medical encyclopedia at Medline Plus.
  www.nlm.nih.gov/medlineplus/ency/article/001536.htm
  Read Medline's description of RS, including definition, causes, risk factors, symptoms, signs and tests, treatment, prognosis, and complications. Medline is a service of the National Library of Medicine.
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• Want to know more about the DSM-VI-TR, and how it was compiled?
  www.appi.org/dsm.cfx
  Visit the American Psychiatric Association's DSM-IV-TR Library, located at the link above.

Research on Rett Syndrome

The links we've listed below are specific to research on RS. (You may also find it helpful to know what research is being conducted on autism and what it's revealing. For that latter information, we refer you to our Connections page on autism.)

• IRSA connects you to research info on RS.
  www.rettsyndrome.org/main/toc-research.htm
  The International Rett Syndrome Association (IRSA) has lobbied for nearly $35 million in medical research and directly funded $2.33 million in scientific research solely on Rett syndrome. On IRSA's site, you can read all about important genetic discoveries and much more.
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• So does the Rett Syndrome Research Foundation (RSRF).
  www.rsrf.org/rsrf_funded_research/
  Since February of 2000 RSRF has awarded almost $5 million to a total of 51 projects and scientific meetings including the annual Rett Syndrome Symposium. Read all about what research is revealing about this disorder.
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• NICHD (the National Institute of Child Health and Human Development, at the National Institutes of Health).
  www.nichd.nih.gov/publications/pubs/autism/Rett/index.htm
  The beginning of this NICHD article on Rett's is: "In October 1999, scientists sponsored by the National Institute of Child Health and Human Development (NICHD) made a remarkable announcement—they discovered that a change in the sequence of a single gene can cause Rett syndrome..." While the article focuses more on describing Rett's than the research, it will connect you to NICHD's research initiatives, both on Rett's and on autism spectrum disorders in general.
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• Want to know how to evaluate research studies?
  www.researchautism.org/uploads/parents%20guide.pdf
  OAR, the Organization for Autism Research, offers a guide, entitled Life Journey Through Autism: A Parent's Guide to Research, to help parents become "savvy" about finding and consuming information on autism, with special emphasis upon examining the research. Sources of this information are presented. The science model is then explained, along with a framework for evaluating research studies and the current state of autism research.

Spanish Materials

• El Sindrome de Rett, a fact sheet from NINDS,
  the National Institute of Neurological Disorders and Stroke.
  www.ninds.nih.gov/disorders/spanish/el_sindrome_de_rett.htm
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• Translate IRSA's site.
  www.rettsyndrome.org/
  On the top left menu of the International Rett Syndrome Association's Web site, you'll see a tab titled "Translate." Babel Fish is used to render the site into Spanish, 150 words at a time!
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• For low cost, you can buy The Rett Syndrome Handbook in Spanish.
  www.rettsyndrome.org/main/rett_syndrome_handbook.htm
  "The Rett Syndrome Handbook" is written by IRSA Founder and President Kathy Hunter and covers all areas of Rett Syndrome you can think of. It's available in Spanish. Find out more and order it online via the link above.
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• The Spanish version of "When your child is diagnosed with an autism spectrum disorder."
  www.iidc.indiana.edu/irca/fspanish.html
  "Cuando su nino/nina es diagnosticado con alguno de los desordenes en la gama del autismo" is the Spanish title of this publication from the Indiana Resource Center for Autism.
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• Looking at the genetics of autism (in Spanish), including Rett's.
  www.exploringautism.org/spanish/autism/evaluation.htm
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• Que es el Sindrome Rett?, from the Rett Syndrome Association of Argentina.
  www.rett.com.ar/sindrome_rett.htm
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• Sindrome de Rett: Revision y actualizacion de conceptos, from Venezuela.
  http://ceril.cl/P41_s_rett.htm

From Commercial Publishers

This is just a short list of what's out there, and as more emerge, we'll add 'em!

• IRSA isn't a commercial publisher, has incredible info for free, and also offers a variety of merchandise, videos, and books at low cost.
  http://www.rettsyndrome.org/main/toc-shop.htm
  In the IRSA shop, you can find out more about and buy, if you like, such items as: (1) videos (with titles such as Silent Angels; Rett Syndrome: A Closer Look; and Rett Syndrome: A Therapeutic Approach); (2) books (such as the Rett Syndrome Handbook; Understanding Rett Syndrome; and Nutrition Care Guidelines in Rett Syndrome); and (3) other useful materials, such as brochures, CDs, teeshirts, research reprints, and articles on key topics.
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• A source book for parents.
  www.amazon.com
  "The Official Parent's Sourcebook on Rett Syndrome: A Revised and Updated Directory for the Internet Age" was published by Icon Health Publications in 2002. Order online through amazon.com.
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• A medical dictionary, among other things.
  www.amazon.com
  In November 2003, Icon Health Publications also published "Rett Syndrome: A Medical Dictionary, Bibliography, and Research Guide to Internet References." Order online through amazon.com.