41. Rett Syndrome Irma Penner's book, The Right to BelongThe Story of Yvonne, describes the importance of community and school integration for children with severe disabilities. http://www3.nb.sympatico.ca/ipenner/rs.html

Experiences with RS Perhaps some of our experiences will be helpful to other parents. Yvonne Fredericton, New Brunswick, Canada We will add information as time and energy permits. For now we have included a page on school integration (taken from Irma's book, #1 below) and a page on allergies and behavior. T HE R IGHT TO ... The Story of Yvonne by Irma Penner Integrated at Last Chapter 15 from Irma's book Eating Disorder, Constipation and Food Allergies - December, 2000 E-mail: ipenner@nb.sympatico.ca Phone: (506) 452-2136 Back to: Penner Home Page Links to Rett Syndrome: International Rett Syndrome Association http://www.rettsyndrome.org Rett Syndrome Research Foundation- http://www.rsrf.org/default2.htm Links to other supportive organizations: Association for Community Living http://www.cacl.ca/ You are visitor no.: since Dec 7, 2000 If you have any comments or questions about this website, please contact Irma Penner ipenner@nb.sympatico.ca Updated May 1, 2001

42. RETT SYNDROME rett syndrome, research index site with links for disability users, 1000's of searchengines and with live java games, chat's, kids internet, irc, jobs, news http://www.ability.org.uk/rett.html

"see the ability, not the disability" You to can help support the Ability Project by: Our Aims ... Z RETT SYNDROME International Rett Syndrome Association Home page Rett Syndrome Webmaster . Site Design by Ability "see the ability, not the disability" Acknowledgments

43. The Coenraads Home Page A family's battle with rett syndrome, plus help links and information. http://www.coenraads.com/

Welcome to Coenraads.com Our 2001 Holiday picture: Chelsea, Tyler and Alex (click on the blue to email) Pieter Pieter@Coenraads.com Pieter's job at Greenfield Online: Monica Monica@Coenraads.com Monica's volunteer job at RSRF: Chelsea Chelsea@Coenraads.com Alex Alex@Coenraads.com Tyler Tyler@Coenraads.com An Appeal Letter for the Love of Chelsea Take a look at our photo galleries: Recent shots - Summer 2001 Spring 2001 Winter 2001 December 2000 ... Happy Mother's Day! Missing Pictures Under Construction 1999 First 4 Months 1998 Holiday Pictures Picture Archive (through 11/24/98) The Coenraads Brothers ... Grandparents Monica's Magnificent Media Milestones: People Magazine - Monica's letter gets published - May 24, 1999 Howard Stern Show - Monica calls in! Stamford Advocate Article - Music Therapy - April 13, 1999 Connecticut Public TV Recording Connecticut Post Article - Jan 10, 1999 Stamford Advocate Article - Front Page! - Dec 28, 1998 The Trumbull Times - Nov 19, 1998 Reflections: Short Story Hands - by Jewel I am the child Wishes in the Dark Rett Hands Here's a listing of a few of our favorite sites: Get to know Chelsea's challenge at the Rett Syndrome Research Foundation: RSRF The picture thumbnail pages are generated by: ThumbsPlus

44. Coping With Rett Syndrome Coping With rett syndrome. A debilitating disorder that strikes onlygirls, rett syndrome challenges physicians, patients, and families. http://www.ars.usda.gov/is/AR/archive/feb99/rett0299.htm

Contents ...From the pages of Agricultural Research magazine Coping With Rett Syndrome A debilitating disorder that strikes only girls, Rett Syndrome challenges physicians, patients, and families. One symptom of Rett Syndrome is profound growth failure. Pediatrician and nutritionist Kathleen J. Motil with the USDA- ARS Children's Nutrition Research Center (CNRC) in Houston, Texas, is finding innovative ways to promote adequate nutrition, improve health, and enhance growth for some of these patients. Rett Syndrome occurs in 1 out of 23,000 live births. The onset is baffling: A healthy, active infant gradually stops developing normally. Typically, she regresses, losing her speech and walking skills, as well as the ability to play with toys. Repetitive hand-wringing and hand-washing movements are common, as are breathing abnormalities. Growth failure and muscle wasting may occur as early as 1 year of age. Motil and others have done studies suggesting this poor growth and wasting may be linked in part to the girls' need for special nutritional care. Andreas Rett, the medical doctor who first described this neurodevelopmental disease in 1966, noted the symptoms of wasting and slowed growth. Growth retardation is one of the factors supporting the diagnosis of Rett Syndrome. Other researchers, including Motil's colleagues, pediatric neurologist Daniel G. Glaze and nurse practitioner Rebecca J. Schultz, have reported in medical journals a deceleration in the rate of gain in head circumference, height, and weight.

45. Index Introduction to rett syndrome and Angelman Syndrome, a personal view, photographs, and links. http://geocities.com/melicamay

Welcome To Touched By An Angel Click angel to enter

46. Welcome To Debbie Schilling And Tom Bundy's Web Site! Personal stories and various links for rett syndrome information. http://www.bundlings.com/

selectCSS(document.URL,1); Bundlings.com: Main Events Family Fun ... Site Index document.write(''); Click here to see what's new! Baltic Sea: July 2002 Caribbean: December 2002 Bundlings.com: Main Events Family Fun ... Site Index

47. Rett Syndrome Information Information Sheet from the National Institute of Neurological Disordersand Stroke, NIH International rett syndrome Association support and http://www.ncbi.nlm.nih.gov/disease/rett.html

This Genes and Disease page has been moved to: Please update your bookmarks. If you are not automatically transported to the new page after 15 seconds, click on this link Genome View on chromosome X Databases PubMed the literature Key paper Recent literature LocusLink collection of gene-related information OMIM catalog of human genes and disorders Information Information Sheet from the National Institute of Neurological Disorders and Stroke, NIH International Rett Syndrome Association support and information for families RETT SYNDROME (RTT) is a progressive neurodevelopmental disorder that almost exclusively affects females. It has an incidence of about 1 in 10,000 births, making it one of the most common causes of profound mental retardation in girls. Individuals with RTT develop normally until the age of 6 to 18 months, when they begin to lose purposeful use of their hands and speech. Affected individuals also show reduced muscle tone, wringing hand movements, autistic-like behavior and seizures. A gene which causes RTT, , has been found on the long arm of chromosome X (Xq28). Normally, females have two X chromosomes and males have an X and a Y. Since males do not have an additional copy of X to offset a defect, most X-linked diseases affect males. Then, why are males not affected by RTT? One possible explanation is that the absence of a functional copy of

48. Kimbo's Korner Story of a young woman living with rett syndrome. Many pictures and links. http://www.rettangels.org/members/kimberly

Kimberly's Korner Hello, my name is Kimberly. I am 17 years old. I am in a special needs class at Clay-Chalkville High School. flirting My PhotoGallery - From 3 Months to 12 Years About Rett Syndrome Rett Syndrome (RS) is a neurodevelopmental disorder believed to affect 1 in 10,000 female births (rarely seen in males). It is named for Dr. Andreas Rett, an Austrian physician who identified the syndrome in 1966, although it remained unknown in the United States until 1983. Symptoms: Children with Rett Syndrome appear to develop normally until 6 to 18 months of age. They then enter a period of regression, losing speech and hand skills they had acquired. Most children develop seizures, repetitive hand movements, irregular breathing and motor-control problems.* A slowing of the rate of head growth also becomes apparent. Most researchers agree that RS is a developmental disorder rather than a progressive, degenerative disorder. The girls can live to adulthood, but most never regain the ability to use their hands or to speak. Cause: In 1999, a research team led by Dr. Huda Y. Zoghbi of the Howard Hughes Medical Institute and Houston’s Baylor College of Medicine identified the cause of Rett Syndrome as a defect in the MECP2 gene on the X chromosome. RS is most often misdiagnosed as autism, cerebral palsy or non-specific developmental delay. Genetic testing is now available to confirm the diagnosis.

49. The Contact A Family Directory - RETT SYNDROME rett syndrome ASSOCIATION UK. rett syndrome ASSOCIATION SCOTLAND. rett syndromeAssociation Scotland 16 Fara Close Aberdeen AB15 6WN Tel 01224 663502. http://www.cafamily.org.uk/Direct/r30.html

printer friendly RETT SYNDROME home more about us in your area conditions information ... how you can help search this site Rett syndrome is the clinical expression of the Rett disorder, a complex, genetic, neurological condition which affects far more girls than boys. Although signs may not be initially obvious, it is present at birth. It usually becomes more evident during the second year. People with Rett syndrome are almost always profoundly and multiply disabled and totally dependent on others for all their needs throughout their lives but severity may vary considerably. The baby with classic (easily recognised) Rett syndrome is usually placid and rather inactive. Learning may be slow but progress may reach the 9 or 12 month stage, occasionally beyond. Within a few weeks of birth the child's head size may fail to increase at the normal rate indicating failure of the brain to grow normally, although head size may remain within normal limits. Strange finger movements develop with the hands twisting and squeezing rather than reaching out to explore. Usually between one and three years the abnormal hand movements become more obvious and purposeful use is reduced or lost. During this time of regression the child may be agitated and distressed and breathing rhythm becomes irregular. Brain scans may confirm poor growth of the brain and after some months the electroencephalogram may show abnormal electrical activity in the brain cells (an electroencephalogram is the tracing which shows the electrical activity due to the neurones on the surface of the brain). There is disturbance of several substances involved in brain development and mature function. The diagnosis is confirmed by detecting a mutation (fault) on MECP2, a gene at the tip of the X chromosome. In just a few people with all or most of the clinical signs of Rett a mutation has not been found and it is possible that these people have a fault affecting control of MECP2 or of genes whose activity should be regulated by MECP2.

50. Rett Syndrome Information rett syndrome International rett syndrome Association (IRSA) Organization callingfor rett syndrome research and education. A Child With rett syndrome. http://www.geocities.com/HotSprings/Spa/3247/rett_syndrome.html

Rett Syndrome International Rett Syndrome Association (IRSA) Organization calling for Rett syndrome research and education. Provides information and support to patients and their families. http://www2.paltech.com/irsa/irsa.htm National Academy for Child Development, Inc. An international organization dedicated to helping children and adults cope with developmental issues. http://www.nacd.org/index.html One to One Individualized Therapeutic Recreation A long list of therapeutic recreation links, including links for Rett Syndrome. http://www.erols.com/dawnie1/oneto1.htm Our Rett Syndrome Page Another great resource for finding information about Rett Syndrome. http://pages.prodigy.com/DebbieSchilling/irsg.htm Rett Syndrome Has technical medical information on Rett Syndrome. http://www.icondata.com/health/pedbase/files/RETTSYND.HTM Rett Syndrome Great resource page for information on Rett Syndrome, how to chat with others, personal accounts and more. http://www.familyvillage.wisc.edu/lib_rett.htm Rett~Angels Gallery A photo gallery of girls suffering with Rett Syndrome and links to their websites.

51. Rett, Syndrome : Sites Et Documents Francophones Translate this page Synonyme(s) syndrome rett. Voir aussi retard mental . Arborescence(s) duthesaurus MeSH contenant le mot-clé Rett, syndrome rett syndrome http://www.chu-rouen.fr/ssf/pathol/rettsyndrome.html

Rett, Syndrome Menu général CISMeF Synonyme(s) syndrome rett Voir aussi retard mental Arborescence(s) Rett, syndrome Rett syndrome maladies et malformations congénitales, héréditaires et néonatales système nerveux, maladies Position du mot-clé dans l' (les) arborescence(s) : Vous pouvez consulter toutes les ressources ou seulement les principales ou utiliser l' outil de recherche les recommandations les documents concernant l' enseignement les documents destinés aux patients Ou consulter ci-dessous une sélection des principales ressources : guide ressources Rett, syndrome de [Par Pr Mancini J. Site éditeur Orphanet base de données sur les maladies rares et les médicaments orphelins. Direction Générale de la Santé / INSERM ; ; langue : français ; format : html ; accès : gratuit ; non parrainé ; daté de : 2002 ; visité le : 14/07/2001]. mots clés : * Rett, syndrome Rett, syndrome diagnostic type(s) : guide ressources structure recherche texte association patients patient AFSR - Association Française du Syndrome de Rett ; langue : français ; format : html ; accès : gratuit ; non parrainé ; visité le : 09/07/2001].

52. NIH Guide: RETT SYNDROME: GENETICS, PATHOPHYSIOLOGY, AND BIOMARKERS rett syndrome GENETICS, PATHOPHYSIOLOGY, AND BIOMARKERS Release Date January 12,1999 PA NUMBER PAS99-037 PT National Institute of Child Health and Human http://grants.nih.gov/grants/guide/pa-files/PAS-99-037.html

http://www.crisny.org/health/us/health7.html http://www.nih.gov/grants/guide/notice-files/not94-105.html . INCLUSION OF CHILDREN AS PARTICIPANTS IN RESEARCH INVOLVING HUMAN SUBJECTS It is the policy of the NIH that children (i.e., individuals under the age of 21) must be included in all human subjects research, conducted or supported by the NIH, unless there are scientific and ethical reasons not to include them. This policy applies to all initial (Type 1) applications submitted for receipt dates after October 1, 1998. All investigators proposing research involving human subjects should read the "NIH Policy and Guidelines on Inclusion of Children as Participants in Research Involving Human Subjects" that was published in the NIH Guide for Grants and Contracts, March 6, 1998 and is available at the following URL address: http://www.nih.gov/grants/guide/notice-files/not98-024.html . Investigators also may obtain copies of these policies from the program staff listed under INQUIRIES. Program staff may also provide additional relevant information concerning these policies. APPLICATION PROCEDURES Applications are to be submitted on the grant application form PHS 398 (rev. 4/98). Additional instructions for R03 and R21 applications are described below. Applications will be accepted at the standard application deadlines as indicated in the application kit. Application kits are available at most institutional offices of sponsored research; from the Division of Extramural Outreach and Information Resources, National Institutes of Health, 6701 Rockledge Drive, MSC 7910, Bethesda MD 20892-7910, telephone 301/435-0714, Email:

53. NIH Guide: RETT SYNDROME: GENETICS, PATHOPHYSIOLOGY, AND BIOMARKERS rett syndrome GENETICS, PATHOPHYSIOLOGY, AND BIOMARKERS Release Date January18, 2000 NOTICE HD00-001 National Institute of Child Health and Human http://grants.nih.gov/grants/guide/notice-files/NOT-HD-00-001.html

http://grants.nih.gov/grants/guide/pa-files/PAR-99-126.html , for information and application instructions regarding the NICHD R03. It should be noted that all R03 and R21 applications, and all R01 applications requesting up to $250,000 direct costs per year, must be submitted in accordance with Modular Grant application procedures. Complete and detailed instructions and information on Modular Grant applications can be found at http://grants.nih.gov/grants/funding/modular/modular.htm . INQUIRIES Inquiries regarding this Notice should be directed to: Mary Lou Oster-Granite, Ph.D. Mental Retardation and Developmental Disabilities Branch National Institute of Child Health and Human Development 6100 Executive Boulevard, Room 4B09D, MSC 7510 Bethesda, MD 20892-7510 Telephone: 301-496-1383 FAX: 301-496-3791 E-Mail: mo96o@nih.gov Giovanna Spinella, M.D. Neurodevelopment Section National Institute of Neurological Disorders and Stroke 6001 Executive Boulevard, Room 2132 Rockville, MD 20892-9527 Telephone: 301-496-5821 FAX: 301-402-1501 E-Mail: gs41b@nih.gov

54. Rett Syndrome rett syndrome. Also See National organizations information on geneticconditions or birth defects; Bluegrass for rett syndrome information; http://www.kumc.edu/gec/support/rett_syn.html

Rett syndrome International Rett Syndrome Association 9121 Piscataway Rd, Suite 2B Clinton, MD 20735 Phone: 800-818-RETT (7388) or (301) 856-3334 Fax: (301) 248-9049 Web site: http://www.rettsyndrome.org E-mail: irsa@rettsyndrome.org Includes links to organizations in Australia, Belgium, Denmark, France, Japan, Netherlands, Sweden Research for Rett, Inc. P.O. Box 471 Linwood, New Jersey 08221 Phone: 1-800-422-RETT E-mail: adnet@cnw.com Also See: National organizations information on genetic conditions or birth defects Bluegrass for Rett Syndrome information Rett Syndrome Center for the Study of Autism To locate a genetic counselor or clinical geneticist in your area: Professional Genetics Societies Genetic clinics, centers, departments Genetic Societies Clinical Resources ... Search Genetics Education Center Debra Collins, M.S. CGC , Genetic Counselor, dcollins@kumc.edu This site subscribes to the principles of the HONcode (Health on the Net, Code of Conduct for Medical and Health Web Sites) of the Health On the Net Foundation

55. HHMI News: Rett Syndrome Traced To Defective Gene "Silencer" rett syndrome Traced to Defective Gene Silencer , Finding that gene is thehardest thing I've ever worked on, says HHMI investigator Huda Zoghbi. http://www.hhmi.org/news/zoghbi2.html

RESEARCH NEWS RESEARCH NEWS GRANT ANNOUNCEMENTS SCIENCE EDUCATION NEWS INSTITUTE NEWS ... Download this story in Acrobat PDF format. (requires Acrobat Reader Rett Syndrome Traced to Defective Gene "Silencer" "Finding that gene is the hardest thing I've ever worked on," says HHMI investigator Huda Zoghbi. A 14-year search for the cause of a rare genetic disease that strikes young girls has uncovered the first example of a human disease that is linked to a defective gene silencing mechanism. Rett syndrome (RTT) is a neurodevelopmental disorder seen in young girls that causes a sudden and permanent decline in mental capabilities. In 1985, HHMI investigator Huda Zoghbi , who was then a neurology fellow, published a clinical research report on Rett syndrome. Her initial encounter with the disorder had a lasting impact on her career. Shortly after seeing her first RTT patients, Zoghbi decided to change her career plans, switching from clinical medicine to a research position. Shortly after switching to research, she started the long, tedious search for the genetic causes of RTT. "Finding that gene is the hardest thing I've ever worked on," Zoghbi said in an interview. "It's the best case for the rewards of perseverance that I can think of."

56. HHMI News: Researchers Develop Mouse Model Of Rett Syndrome Researchers Develop Mouse Model of rett syndrome, “As development progresses, whatwe encounter our experiences may also change how the brain responds. http://www.hhmi.org/news/zoghbi5.html

RESEARCH NEWS RESEARCH NEWS GRANT ANNOUNCEMENTS SCIENCE EDUCATION NEWS INSTITUTE NEWS ... HHMI HOME ALSO OF INTEREST Rett Syndrome Traced to Defective Gene "Silencer" HHMI Bulletin: Huda Zoghbi Profile When the Brain Fails Teasing Out the Early Steps of Neurodegeneration Gene Triggers Formation of Sensory Cells in the Ear ... Download this story in Acrobat PDF format. (requires Acrobat Reader Researchers Develop Mouse Model of Rett Syndrome “As development progresses, what we encounter our experiences may also change how the brain responds. This may account for individual variation in disease severity,” said HHMI investigator Huda Zoghbi. By studying gene mutations in patients with the complex set of behavioral and neurological symptoms that accompany Rett syndrome, Howard Hughes Medical Institute investigator Huda Zoghbi and her colleagues at Baylor College of Medicine have designed a mouse model that faithfully recapitulates the disease down to its distinctive hand-wringing behavior. The development of the mouse, reported in the July 18, 2002 issue of the journal

57. Esmerel's Collection Of Rett Syndrome Resources rett syndrome Resources. (Courtesy Resources. This page is dedicatedto rett syndrome resources. This list is growing constantly. http://www.esmerel.org/specific/rett.htm

Rett Syndrome Resources (Courtesy of Esmerel: Home of Unicorn Quest : The Kids' Typing Tutor Game for One or Two Hands ) Welcome to another part of Esmerel's Collection of Disability Resources. This page is dedicated to rett syndrome resources. This list is growing constantly. If you know of any other resources or have suggestions, please email Heather. Australian Rett Syndrome Home Page Was established in 1993 to set up a facility for population based research in Australia Cure Rett Syndrome Now IRSA: International Rett Syndrome Assocation Over 500 pages of information about Rett Syndrome and the IRSA. Living with Rett Syndrome Our Rett Syndrome Home Page Profile of Rett Syndrome Rebekah's Page on Rett Syndrome ... Back to the Disabled Directory This page is maintained by Heather Last updated: May 23, 2000

58. Autisn And Rett Syndrome; The Pevsner Lab rett syndrome Background. rett syndrome affects girls almost exclusively. Somerett syndrome web links International rett syndrome Association (IRSA). http://pevsnerlab.kennedykrieger.org/autism_rett.htm

Home DRAGON SNOMAD Bioinformatics ... Publications Introduction Autism and Rett Syndrome are devastating, lifelong neurological disorders that are classified as pervasive developmental disorders (sometimes abbreviated PDD). Autism and Rett Syndrome are characterized clinically by severe, pervasive impairment in communication skills and in reciprocal social interaction skills. Stereotyped behavior and interests are typical. In many cases, autism and Rett Syndrome are accompanied by mental retardation as well as seizures. These disorders cause significant hardships for the affected children and adults, as well as their families, schools and communities. Today, the diagnosis of autism and related pervasive developmental disorders such as Asperger's Syndrome is based upon clinical criteria. There are no known biological causes. There are very few proven neurochemical, genetic, neuroanatomical, neurophysiological, structural, metabolic, or other molecular differences between these patients and the normal population.

59. HealthlinkUSA Rett Syndrome Links More results on rett syndrome at IxQuick.com. Click here for page 1of rett syndrome information from the HealthlinkUSA directory. http://www.healthlinkusa.com/269ent.htm

60. NIH News Release--Mouse With Rett Syndrome May Provide Model For Testing Treatme Mouse With rett syndrome May Provide Model for Testing Treatments, UnderstandingDisorder. Like other females, girls with rett syndrome have two X chromosomes. http://www.nih.gov/news/pr/jul2002/nichd29a.htm

NATIONAL INSTITUTES OF HEALTH National Institute of Child Health and Human Development FOR IMMEDIATE RELEASE Monday, July 29, 2002 Contact: Susan Marsiglia Robert Bock Mouse With Rett Syndrome May Provide Model for Testing Treatments, Understanding Disorder Neuron The researchers regard the mouse as an improvement over other animal models of the disease because the mice exhibit physical and behavioral characteristics that mimic Rett syndrome in humans much more closely than did earlier mouse models for the disorder. “The generation of a strain of mice that have the features of Rett syndrome is an important advance in the quest to understand and prevent this devastating disorder,” said Duane Alexander, M.D., Director of the NICHD. “By studying these mice, researchers will be able to learn more about the natural progression of Rett syndrome, as well as test medications and other treatments that might prevent or lessen the symptoms of the disorder.” The strain of mice developed by the researchers appeared normal for about six weeks, but then developed a progressive disease that closely mimics Rett syndrome in humans. For example, the mice developed tremors, problems with muscle control, seizures and curvature of the spine. They also appeared anxious and moved their front limbs in a motion similar to the constant hand-wringing seen in girls with Rett syndrome. Over time, the mutant mice appeared unkempt, most likely as a result of a lack of normal grooming. Their social interaction was impaired and normal mice actively avoided them.

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