61. The Rett-Syndrome Julia promotes the International rett syndrome Association . Whatis the rett syndrome? The International rett syndrome Association. http://www.juliaroberts.de/x-rett.htm

Julia promotes the "International Rett Syndrome Association" What is the Rett Syndrome? Rett Syndrome is a neurological disorder seen almost exclusively in females, and found in a variety of racial and ethnic groups worldwide. The child with Rett Syndrome usually shows an early period of apparently normal or near normal development until 6-18 months of life. A period of temporary stagnation or regression follows during which the child loses communication skills and purposeful use of hands. Soon, stereotyped hand movements, gait disturbances, and slowing of the rate of head growth become apparent. The International Rett Syndrome Association Please visit the homepage of the organisation to learn more about the Rett Syndrome and the efforts of the " International Rett Syndrome Association ". What´s Julia´s participation? Julia appears in a documentary about the Rett Syndrome titled "Silent Angels". The shooting took place in Seattle, Los Angeles, Baltimore and New York. Julia is narrator of the project. The documentary aim is to discuss Rett Syndrome through the eyes of several families and with the assisstence of geneticists and other researchers. At the moment there are only 4.178 Rett cases identified in the whole world. But it must be much more. This film wants to find those missing or misdiagnosed kids.

62. HBOT, Rett Syndrome, & Cerebral Palsy application as a treatment for brain injuries, and the question of its applicationto developmental disabilities including cerebral palsy and rett syndrome. http://hbot.freeservers.com/

HBOT for Developmental Disabilities including RS and CP by Earl M. Williams, Ph.D. New Location update: Personal Note FAQ , and 7/8/01 update: see links to the latest analysis of the Montreal study of HBOT and cerebral palsy (a French site, so scroll down to the "Version anglaise" link starting with "Analysis of the results of..."), and the second Symposium on Cerebral Palsy and the Brain Injured Child (July 25-28, 2001) In Spring 1999, I wrote an extensive literature review paper on hyperbaric oxygen therapy (HBOT) , its demonstrated application as a treatment for brain injuries , and the question of its application to developmental disabilities including cerebral palsy and Rett Syndrome . The paper includes a large number of Internet links and almost 100 scientific references. The goal of the paper is to clearly synthesize important HBOT information that has not previously been presented in one place: on HBOT, the research showing its effectiveness for brain injury, the rationale for its applicability to additional neurological conditions, HBOT treatment protocols, and the data on each of its purported side effects (seen only at high pressures). As of July 2000 this paper is no longer fully current, but I hope to be able to revise it at some point. For now, the many Internet links and references in the paper will lead you to more current information. In particular, see the new 3rd edition of the "Textbook of Hyperbaric Medicine" by K. K. Jain ( click here to view publisher information).

63. Scientists Create First Animal Model Of Rett Syndrome MIT. WEDNESDAY, MARCH 21, 2001. Scientists create first animal modelof rett syndrome. By Nadia Halim Whitehead Institute. Researchers http://web.mit.edu/newsoffice/tt/2001/mar21/rett.html

Published by the MIT News Office at the Massachusetts Institute of Technology, Cambridge, Mass. March 21 Tech Talk Search MIT News ... MIT WEDNESDAY, MARCH 21, 2001 Scientists create first animal model of Rett syndrome By Nadia Halim Whitehead Institute Researchers from the Whitehead Institute for Biomedical Research have created the long-awaited animal model for Rett syndrome, one of the most common causes of mental retardation in females with an incidence of one in 10,000-15,000. The transgenic mouse model sheds much-needed light on the underlying mechanism of the disease and suggests a new reason for hope in the research toward therapies. Rett syndrome, caused by a defective gene on the X-chromosome, is thought to have a lethal effect in males before birth or shortly after. Girls with Rett syndrome (and two copies of the X chromosome) are healthy babies who develop normally until six to eighteen months old. But then something goes terribly wrong their health deteriorates and they begin to show symptoms such as loss of speech, loss of voluntary motor control, constant hand wringing and seizures. The work, published in the March issue of Nature Genetics by MIT Professor of Biology

64. Rett Syndrome & Me skills. I have classic rett syndrome. Yet it answered so many of their questionstoo. cards. We who have rett syndrome absolutely love music. http://members.aol.com/Danigirl1/

htmlAdWH('7008212', '120', '30'); htmlAdWH('7004796', '234', '60'); Main Create Edit Help ~Welcome to My Homepage~ We must not allow other people's limited perceptions to define us. ~~Virginia Satir~~ My mom is the TN Regional Rep for the IRSA and you can write to her at: Connie if you want more information about Rett syndrome. Rett Syndrome (RS) is a neurological disorder seen almost exclusively in females, and found in a variety of racial and ethnic groups worldwide. First described by Dr. Andreas Rett, RS received worldwide recognition following a paper by Dr. Bengt Hagberg and colleagues in 1983. RS is most often misdiagnosed as autism, cerebral palsy or nonspecific developmental delay. While many health professionals may not be familiar with RS, it is a relatively frequent cause of neurological dysfunction in females. The prevalence rate in various countries is from 1:10,000 to 1:23,000 live female births. I was first diagnosed at 2 years as having Cerebral Palsy (CP) with severe retardation. Thank God my mom never believed that ! I was almost 11 before we got the correct diagnosis of Rett. The child with RS usually shows an early period of apparently normal or near normal development until 6-18 months of life. A period of temporary stagnation or regression follows during which the child loses communication skills and purposeful use of the hands.

65. Rett Syndrome Vol. 2, Article 1, Moritani, et al. rett syndrome rett syndrome is a neurodegenerative spasticgait for ten years. Clinically uspected rett syndrome. http://foundation.asnr.org/neurographics/2/1/1/14.asp

Vol. 2, Article 1 Moritani, et al. Rett syndrome Rett syndrome is a neurodegenerative disease of unknown etiology that begins early childhood with autism-like behavior and loss of language skills, and progresses with deterioration of the motor system. Autopsy reveals global hypoplasia in both gray and white matter, which suggests developmental arrest. Increased glutamate in the CSF is reported . MRI shows cerebral hypoplasia, especially in the frontal lobes, and cerebellar atrophy (Figure 14) . MRS shows increased choline and decreased NAA. Increased glucose uptake on FDG PET scans and increased glutamate in the CSF suggest that an excitotoxic mechanism plays an important role in Rett syndrome Figure 14. A 24-year-old female who has a history of autism, seizures and progression of spastic gait for ten years. Clinically uspected Rett syndrome. A. T2WI shows cerebral hypoplasia, especially in bilateral frontal lobes, and secondary skull thickening. B. Sagittal T1WI also shows a thin corpus callosum related to cerebral hypoplasia and skull thickening. Cerebellar atrophy is not prominent in this case.

66. Rett Syndrome rett syndrome within the Autism Spectrum, affects only girls and isa unique disorder. rett syndrome Guide picks. rett syndrome is http://autism.about.com/cs/rettsyndrome/

zfp=-1 About Autism/Pervasive Developmental Disorders Search in this topic on About on the Web in Products Web Hosting Autism/Pervasive Developmental Disorders with Adelle Jameson Tilton Your Guide to one of hundreds of sites Home Articles Forums ... Help zmhp('style="color:#fff"') Subjects ESSENTIALS Autism 101 Guide to the Autism/PDD Site FAQ's for Autism Spectrum Disorders Common Characteristics of Autism ... All articles on this topic Stay up-to-date! Subscribe to our newsletter. Advertising Free Credit Report Free Psychics Advertisement Rett Syndrome Guide picks Rett Syndrome is an Autism Spectrum disorder that affects only girls. Because of this it poses unique problems for parents and caregivers. A Breakthrough for Rett Syndrome Researchers at Baylor University in Houston, Texas, have identified the gene responsible for Rett Syndrome. This discovery answers a lot of questions and asks even more. One thing we know for sure, is that research dollars are working the way they are intended to work. International Rett Syndrome Association An International Association which provides comprehensive information on all aspects of Rett Syndrome. National Institute of Neurological Disorders Rett Syndrome is an Autistism Spectrum Disorder affecting only girls. This site from the NIH describes this syndrome and its effects.

67. A Breakthrough For Rett Syndrome A Breakthrough For rett syndrome. Dateline 03/29 well. What does thisfinding mean to the family of a rett syndrome child? Let's take http://autism.about.com/library/weekly/aa032900a.htm

zfp=-1 About Autism/Pervasive Developmental Disorders Search in this topic on About on the Web in Products Web Hosting Autism/Pervasive Developmental Disorders with Adelle Jameson Tilton Your Guide to one of hundreds of sites Home Articles Forums ... Help zmhp('style="color:#fff"') Subjects ESSENTIALS Autism 101 Guide to the Autism/PDD Site FAQ's for Autism Spectrum Disorders Common Characteristics of Autism ... All articles on this topic Stay up-to-date! Subscribe to our newsletter. Advertising Free Credit Report Free Psychics Advertisement A Breakthrough For Rett Syndrome Dateline: 03/29/00 Rett Syndrome is one of the group of disorders classified as Pervasive Developmental Disorders (PDD's) and is unique in that it affects females exclusively. On September 30, 1999, Dr. Huda Zoghbi of Baylor University , announced that a research team had, after a 16 year search, discovered the gene responsible for Rett Syndrome. The gene, MeCP2 (pronounced meck-pea-two),is a mutation on the X chromosome, and may have implications to other conditions such as Fragile X Syndrome as well. What does this finding mean to the family of a Rett Syndrome child? Let's take a look at some of the implications of this discovery and try to find some answers. First of all, since it is now known that Rett Syndrome does have a genetic cause, it may be possible to develop genetic tests to determine if siblings of Rett patients are asymptomatic carriers. Imagine that a couple knew that one of them was a carrier of this disorder. Would they choose to have children, knowing the risk involved from their own first hand experience? We don't know for sure, but experience with other genetic conditions shows that many parents who carry the gene, choose not to. This could be the case with Rett Syndrome as well. The result of such knowledge could have wide spread impact on not only the incidence of Rett Syndrome, but on the educational, medical and personal decisions a person makes as well.

68. Special Child: Disorder Zone Archives - Rett Syndrome rett syndrome Naomi CatfordRobinson. Features and Characteristics. rett syndromeis often mistaken for autism, cerebral palsy, and mental retardation. http://www.specialchild.com/archives/dz-002.html

Disorder Zone Archives Rett Syndrome Naomi Catford-Robinson Rebecca Morris Introduction Rett syndrome (RS) is a genetic disorder that is characterized by an initial period of normal development, followed by a loss of communication skills and purposeful hand movements. It is a disorder that is seen almost exclusively in females and occurs in a variety of racial and ethnic groups worldwide. RS has just recently been traced to a defective gene on the X chromosome called MeCP2. It is estimated that the incidence of RS is between 1 in every 10,000 to 15,000 live female births. Features and Characteristics Rett syndrome is often mistaken for autism, cerebral palsy, and mental retardation. However, no other condition has a period of rapid deterioration followed by stabilization and sometimes even improvements in autistic features, eye contact, and stereotypical hand movements. Since there is no form of laboratory testing for RS, diagnostic criteria and exclusionary criteria have been formed for the recognition of the syndrome. The following characteristics must be found in order to receive a diagnosis of RS: Normal development until approximately 6 to 18 months of age Normal head circumference at birth, followed by a slowed growth rate anywhere from 3 months to 4 years of age

69. Mississippi Challenge For Rett Syndrome & Leukodystrophy, Beginning May 2003 A World Record Attempt and Film Documentary, The Mississippi River Challengefor rett syndrome And Leukodystrophy Beginning May 10, 2003 -, http://www.mississippichallenge.org/

A World Record Attempt and Film Documentary The Mississippi River Challenge for Rett Syndrome And Leukodystrophy - Beginning May 10, 2003 - The Mississippi River Bob Bradford (Paddler) Clark Eid (Paddler) The Mississippi River Challenge for Rett Syndrome And Leukodystrophy is an ultra-endurance race of the ENTIRE Mississippi River (2,348 miles) without any timeouts or breaks, all done to benefit those suffering from two life threatening diseases - Rett Syndrome and all forms of Leukodystrophy. In May of 2003, Clark Eid (Cheshire, CT) and Bob Bradford (Lapeer, MI) will attempt to paddle the mighty Mississippi River in World Record Time in a specially designed racing canoe. They'll launch their boat and their epic adventure in the still waters of a northern Minnesotan lake and emerge ten states and three weeks later in the Gulf of Mexico. In the days and nights covering 2,348 miles, the two endurance paddlers will race against time, fatigue, foul weather, and unforeseen hazards as they struggle to reach their goal. They are motivated by a love of paddling and the spirit of competition. But behind that, it's a deeply personal undertaking for both men. Clark's daughter has Rett syndrome and Bob's family has been affected by Adrenoleukodystrophy, so they're taking on this unique challenge to raise awareness and research funds to combat these two life threatening diseases.

70. Mississippi Challenge For Rett Syndrome & Leukodystrophy, Beginning May 2003 The Mississippi River Challenge for rett syndrome And Leukodystrophy Beginning May 10, 2003 -, I'd Like To Support rett syndrome Research! http://www.mississippichallenge.org/rettsyndrome.html

A World Record Attempt and Film Documentary The Mississippi River Challenge for Rett Syndrome And Leukodystrophy - Beginning May 10, 2003 - The Mississippi River Rett Syndrome The Mississippi River Challenge for Rett Syndrome And Leukodystrophy What Is Rett Syndrome? Americans may recognize Rett syndrome as the disorder that Julia Roberts has publicized. Julia Roberts recently spoke about Rett syndrome before Congress in 2002, covered by a well televised CNN news report or from a Rett syndrome documentary she appears in called "Silent Angels" (which appears on the Discovery Health Channel). Who Can Get Rett Syndrome? An unusual X-linked genetic mutati on was recently discovered that accounts for most Rett syndrome cases.

71. -=EZ Medical = - Rett Syndrome - Ez Figure Logo In Wheelchair Welcome! Your rett syndrome Message Board.Space Coast Early Intervention Center A nationally recognized http://www.ezeee.org/ezmed/ret.htm

72. HONselect - Rett Syndrome English rett syndrome, Autism-Dementia-Ataxia-Loss of Purposeful Hand UseSyndrome - Cerebroatrophic Hyperammonemia - Rett Disorder - Rett's Disorder http://www.hon.ch/HONselect/RareDiseases/C10.574.500.775.html

List of rare diseases: English Deutsch Language: MeSH term: Accepted terms: English: Rett Syndrome - Autism-Dementia-Ataxia-Loss of Purposeful Hand Use Syndrome - Cerebroatrophic Hyperammonemia - Rett Disorder - Rett's Disorder - Rett's Syndrome - Autism Dementia Ataxia Loss of Purposeful Hand Use Syndrome Français: RETT, SYNDROME - SYNDROME RETT Deutsch: Rett-Syndrom - Geistige Behinderung - Hirnatrophische Hyperammonämie - Syndrom mit Autismus, Demenz, Alexie und Verlust von zweckmäßigen Handbewegungen Español: SINDROME DE RETT - AUTISMO-DEMENCIA-ATAXIA-FUGA DEL SINDROME POR USO EXCESIVO DE LA MANO - HIPERAMONEMIA CEREBROATROFICA Português: SINDROME DE RETT - SINDROME DE AUTISMO-DEMENCIA-ATAXIA-PERDA DO USO APROPRIADO DA MAO - HIPERAMONEMIA CEREBROATROFICA HONselect ressources Definition: Yes Articles: Yes Images: No News: No Conferences: No Clinical trials: No Web sites: English Yes Français Yes Deutsch No Español Yes Português No Home About us Site map Feedback ... HONewsletter http://www.hon.ch/HONselect/RareDiseases/C10.574.500.775.html Last modified: Thu Jul 25 2002

73. Kennedy Krieger Institute Rett Syndrome Print this page rett syndrome rett syndrome (RS) is a neurological disorder oftenmisdiagnosed as autism, cerebral palsy or nonspecified developmental delay http://www.kennedykrieger.org/kki/kki_diag.jsp?pid=1101

74. Kennedy Krieger Institute Rett Syndrome rett syndrome rett syndrome (RS) is a neurological disorder often misdiagnosedas autism, cerebral palsy or nonspecified developmental delay caused by a http://www.kennedykrieger.org/accessible/kki_diag.jsp?pid=1101

75. Rett Syndrome Researchers on This Project . . . Researchers on All Projects . . .Links to Sites Related to This Project . . . Back to . . . Home http://www.genetics.ucla.edu/labs/schanen/rett.html

Researchers on This Project . . . Researchers on All Projects . . . Links to Sites Related to This Project . . . Back to . . . Home CADASIL Autism (ID15) Publications

76. Rett Syndrome Symposium SLOVENIA. rett syndrome. Organizers Bengt Hagberg (Sweden), AlanPercy (USA) Local organizer Milivoj Velickovic Perat (Slovenia). http://animus.mf.uni-lj.si/~rett/

PRE-CONGRESS SATELLITE SYMPOSIUM 11 - 12 SEPTEMBER 1998 BLED SLOVENIA RETT SYNDROME Organizers: Bengt Hagberg (Sweden), Alan Percy (USA) Local organizer: Milivoj Velickovic Perat (Slovenia) the scientific programme general information reply form Programme for the piano recital updated on 18 March, 1998 Page visited times since 24/12/1997.

77. Rett Syndrome rett syndrome up. International rett syndrome Association, The home page forthe International rett syndrome Association. rett syndrome Association UK, http://omni.ac.uk/browse/mesh/detail/C0035372L0035372.html

Rett Syndrome [up] Related topics: other Huntington Disease Mental Retardation Muscular Dystrophies Neuronal Ceroid-Lipofuscinosis ... International Rett Syndrome Association The home page for the International Rett Syndrome Association. The site contains information about Rett (a neurological disorder seen almost exclusively in females), case studies, a discussion group for professionals and the parents of Rett syndrome girls, events, publications, news updates and research contacts. Organizations, Nonprofit Rett Syndrome Rett Syndrome Association UK Rett Syndrome Association UK is a registered charity which offers support to females affected by Rett Syndrome, as well as the carers of these girls and women. Rett Syndrome is a neurological disorder which occurs only in females and those affected are totally dependent on others for their needs. The Rett Syndrome Association UK (RSAUK) provides support for its members in a variety of ways such as, office help, self-support groups, contact supporters network, CarersLine and out of office hours contact numbers. This site provides details about these services, their newsletter, and information about the syndrome. Charities Great Britain Organizations, Nonprofit

78. Rett Syndrome Research rett syndrome Research. However, a number of studies have examined boys withrett syndrome, or with the MeCP2 gene defect often found in the syndrome. http://rarediseases.about.com/library/weekly/aa101202a.htm

zfp=-1 About Rare/Orphan Diseases Search in this topic on About on the Web in Products Web Hosting Rare/Orphan Diseases with Mary Kugler Your Guide to one of hundreds of sites Home Articles Forums ... Help zmhp('style="color:#fff"') Subjects BUYER'S GUIDE Before You Buy Top Picks Sites for Online Specialty Shopping ... All articles on this topic Stay up-to-date! Subscribe to our newsletter. Advertising Free Credit Report Free Psychics Advertisement Rett Syndrome Research Gene defects, boys with the syndrome, possible treatments Related Resources Internet links on Rett syndrome From Other Guides A Breakthrough for Rett Syndrome Elsewhere on the Web Rett Syndrome Research Foundation International Rett Syndrome Association Mary Kugler, MSN, RN,BC Guide to Rare/Orphan Diseases MeCP2 gene implicated as cause of Rett syndrome In 1999 it was discovered that mutations of the MeCP2 (pronounced meck-pea-two) gene were associated with Rett syndrome. A study done in 2002 concluded that the type of mutation corresponded with whether the symptoms of Rett syndrome were mild or severe. Yet other studies could find no clear correlation. Studies show that anywhere from 70% to 80% of cases of the syndrome are caused by the MeCP2 gene defect. Rett syndrome does occur in males Rett syndrome has always been considered to occur only in females, with the thought that the male fetus with Rett syndrome did not survive. However, a number of studies have examined boys with Rett syndrome, or with the MeCP2 gene defect often found in the syndrome. Boys with the MeCP2 gene defect may show different symptoms than "classic" Rett syndrome. Researchers recommend that Rett syndrome remain a clinical diagnosis that should not be dismissed in boys.

79. Epilepsy Action: Rett Syndrome rett syndrome. rett syndrome is a condition which occurs in 1 in 1015,000 girls. Girlswith rett syndrome develop normally for the first 6 months of life. http://www.epilepsy.org.uk/info/rettfrm.html

HOMEPAGE EMAIL NEWSLETTER EPILEPSY INFORMATION EPILEPSY ACTION SERVICES ... ONLINE SHOPPING Epilepsy Action is the working name of British Epilepsy Association Rett Syndrome Rett Syndrome is a condition which occurs in 1 in 10-15,000 girls. It does not appear to affect boys. The cause in unknown and it usually does not affect more than one girl in a family. Symptoms Girls with Rett Syndrome develop normally for the first 6 months of life. Between 6 months and 2½ years (often between 6 - 18 months), their development slows up and may even go backwards. They become less interested in play, lose the ability to speak and possibly become irritable. They stop using their hands purposefully and they may, instead, begin to move their hands in a repetitive way, often with hand-wringing movements. Epilepsy is not uncommon, but usually begins after the age of 2 years. The seizures may be of various types including generalised tonic clonic, absences, myoclonic jerks, atonic and tonic. Often, more than one seizure types is present. Frequently, girls with Rett Syndrome have periods of rapid or slow breathing. These periods are sometimes associated with faints, which can be mistaken for epileptic seizures. Diagnosis The diagnosis of Rett Syndrome cannot usually be made with certainty until 3 - 5 years of age. This is because there are specific tests for the condition and the various features are sometimes not present until this age.

80. Rett (syndrome De) Translate this page En anglais Rett's syndrome. rett syndrome confirmation of X-linkeddominant inheritance, and localisation of the gene to Xq28. http://www.vulgaris-medical.com/textr/rett.html

Rett (syndrome de) Voir également encéphalopathie, stéréotypie, autisme, microcéphalie. En anglais : Rett's syndrome. Encéphalopathie (atteinte globale de l'encéphale) dont l'origine est inconnue et qui se manifeste entre le 6ème et le 18ème mois chez un enfant de sexe féminin presque exclusivement (la quasi-totalité des malades identifiés sont des filles) qui s'était développé normalement jusque-là. Causes Cette affection a été décrite pour la première fois il y a environ 30 ans par un neuropédiatre de Vienne, Andreas Rett. Ce syndrome, qui au départ été confondu avec l'autisme, a tendance maintenant à être considéré comme un trouble grave et global du développement du système nerveux central. Ce syndrome se transmet génétiquement. En 1999, des anomalies dans le gène Mec P2, sur le chromosome X, ont été mises en évidence chez des filles atteintes du syndrome et également retrouvées chez quelques garçons présentant un handicap sévère. Deux jumelles monozygotes, c'est-à-dire des vraies jumelles issues du même oeuf, seront touchées l'une comme l'autre. Le terme de monozygote est utilisé quand deux jumeaux ont un placenta en commun c'est-à-dire provenant de la division anormale d'un œuf fécondé unique au départ. Il n'existe pas de moyen biologique pour poser le diagnostic avec certitude.

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