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Rett Syndrome:     more books (38)

For yours is the power of the story: the empowerment of women organizational actors through storytelling.: An article from: Women and Language by Elizabeth M. Goering, 1996-03-22 A child's death: lessons from health care providers' texts.: An article from: Journal of Sociology & Social Welfare by Nancy M. Bell, Marie L. Campbell, 2003-03-01 Gale Encyclopedia of Medicine: Pervasive developmental disorders by Donald G. Barstow RN, 2002-01-01 Parents, geneticists at odds on newborn tests.(Clinical Rounds): An article from: Pediatric News by Linda Little, 2005-07-01 Pervasive developmental disorders: An entry from Thomson Gale's <i>Gale Encyclopedia of Mental Disorders</i> Assessment of children with pervasive developmental disorders.: An article from: Journal of Child and Adolescent Psychiatric Nursing by Kathleen Koenig, Lawrence Scahill, 2001-10-01 Keeping Katherine: A Mother's Journey to Acceptance by Susan Zimmermann, 2004-12-28 Grief Dancers: A Journey into the Depths of the Soul by Susan Zimmermann, 1996-10 What is PDD?: Pervasive developmental disorders in school age children a handbook for parents, teachers and concerned professionals by Richard Paul Morriss, 1993 Mongolismus: Biologische, erzieherische und soziale Aspekte (Arbeiten zur Theorie und Praxis der Rehabilitation in Medizin, Psychologie und Sonderpadagogik) by Andreas Rett, 1977

lists with details

41. 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

42. The Coenraads Home Page
    A family's battle with rett syndrome, plus help links and information.  
    http://www.coenraads.com/
    
    Extractions: 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 Recent shots - Summer 2001 Spring 2001 Winter 2001 December 2000 ... Happy Mother's Day!

43. 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
    
    Extractions: 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.

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

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

46. 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
    
    Extractions: 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

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

48. 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
    
    Extractions: 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.

49. 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

50. 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

51. 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
    
    Extractions: 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:

52. 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
    
    Extractions: 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

53. Rett
    rett syndrome CLINICAL PRESENTATION. A girl with classic rett syndromeappears normal to her parents for most of the first year of life.  
    http://home.coqui.net/myrna/rett.htm
    
    Extractions: In the spring of 1965, Andreas Rett observed two young girls sitting on their mothers’ laps in his waiting room. Like mirror images of each other, they were petite and profoundly disabled and were wringing their hands together incessantly. After searching hi files, Dr. Rett found six other girls with a similar clinical picture and wrote the first description of the syndrome that now bears his name. Beyond saying that Rett syndrome is a “neurologic disorder”, there is little agreement as to whether to classify it as a “neurodegenerative disease” or a “mental retardation syndrome”. There is progression of symptoms, especially motor regression, over the life span, but whether this is due to ongoing degeneration or to secondary sequelae as in cerebral palsy or other neurobiological factors is not clear. It is also not clear if it is a genetic disorder. A girl with classic Rett syndrome appears normal to her parents for most of the first year of life. She may begin walking or may have mildly delayed motor milestones. Her social development appears normal, and she may begin to use and understand language. Sometime between 1 and 2 years, she experiences a regression of these skills. She stops playing with toys. She stops responding to the spoken word and stops using the few single words she has learned. She becomes withdrawn and loses interest in social interaction. She may stop walking. Purposeful hand use is replaced by stereotypic hand movements. The lost developmental skills are never recovered, and she moves through at a level of profound mental retardation.

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

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
    
    Extractions: "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
    
    Extractions: “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
    
    Extractions: (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.

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

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
    
    Extractions: 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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