41. Prader-Willi Syndrome - The Early Years Click for General Guide, Click for Members Library, The information herehas been written by parents of infants with praderwilli syndrome (PWS). http://www.pws.asn.au/infant.html

The information here has been written by parents of infants with Prader-Willi Syndrome (PWS). It is a brief guide for parents who have recently had a diagnosis and it provides some helpful tips on coping with these early years, and early interventions. Most parents find that taking things a day at a time is the best way of dealing with this diagnosis. You will find that there is more detailed information about PWS within this site but some people find that this is enough for the time being. Y Very recently you were told that your child had been diagnosed with Prader-Willi Syndrome (PWS). This syndrome is characterised by a disorder of growth and development, which, in 99% of cases is not inherited. It must have come as a shock to you and you will be wondering just how this will affect you and your family. It is important to say that you and your child are not alone. Estimates show that about 1 in 15,000 people are born with PWS. It occurs in both males and females equally and is seen in individuals of all races. The name of the syndrome is derived from the names of the doctors who first described the disorder in 1956. Y Every child is an individual and not every person affected by the syndrome will have all of the characteristics. They are also seen in varying degrees. Early diagnosis can give your child a more positive start with early intervention and sensible eating plans. It is important to understand that children with PWS are generally happy and delightful and it is very easy to love them.

42. Prader-Willi Syndrome Association Welcome to the praderwilli syndrome Association of New Zealand. http://www.pwsa-nz.co.nz/

Welcome to the Prader-Willi Syndrome Association of New Zealand An Overview of PWS Diagnostic Guidelines for parents Diagnostic Criteria for professionals Genetic Overview ... Conferences Links to other PWS Associations: Australia Denmark Finland France ... USA Welcome to our website - we hope you find something useful here. We have tried to make our site as parent-friendly as we can, and there are links for professionals as well. We welcome your comments. Prader-Willi Syndrome (PWS) is caused by a very small deletion in the 15th chromosome (see Genetic Forms) It is a random occurrence and to date there has been no discovery as to why this happens. Statistics suggest that the occurrence rate is 1:25,000 giving a population in New Zealand of approximately 230 people. The PWS Association (NZ) knows about 130. Diagnosis is made through DNA testing and is almost always accurate. This can be done at all major medical centres in New Zealand. The PWS Association (NZ) Inc is a support group for those who have the syndrome, their families, and all who come in contact with PWS. We are the leading resource centre for PWS in New Zealand. We have parent contacts in most centres and can put you in touch with a support person anywhere in New Zealand. email our National office website author : Linda Thornton

43. Prader-Willi Syndrome - Diagnostic Criteria, Links And Books The following criteria for a diagnosis of praderwilli syndrome are basedon Holm et al. prader-willi syndrome Concensus diagnostic criteria. http://www.isn.net/~jypsy/prader.htm

The following criteria for a diagnosis of Prader-Willi Syndrome are based on Holm et al. (Pediatrics 91, 398, 1993). Because infants and young children have fewer symptoms than older children and adults with PWS, the scoring system differs by age group. Major Criteria (Count as 1 point each) Neonatal and infantile central hypotonia with poor suck, gradually improving with age. Feeding problems in infancy with need for special feeding techniques and poor weight gain/failure to thrive. Excessive (crossing two centile channels) or rapid weight gain on weight-for-length chart after 12 months and before age 6; central obesity in the absence of intervention. Characteristic facial features with dolichocephaly in infancy, narrow face or bifrontal diameter, almond-shaped eyes, small-appearing mouth with thin upper lip, downturned corners of the mouth (three or more of these characteristics required). Hypogonadism-includes any of the following, depending on age: a.

44. ANRED: Prader-Willi Syndrome praderwilli syndrome. What's the difference? prader-willi syndrome is a congenitalproblem that affects one in every ten to fifteen thousand children. http://www.anred.com/pw.html

Prader-Willi syndrome We have just learned that our son has Prader-Willi syndrome. Sometimes he acts bulimic. What's the difference? Prader-Willi syndrome is a congenital problem that affects one in every ten to fifteen thousand children. It includes the following characteristics: Mental retardation. Behavior problems, some of them severe Speech problems Muscle weakness Abnormal growth In some children, unpredictable rage attacks Constant hunger and an implacable drive to eat. Discussion People who have Prader-Willi syndrome will lie, cheat, and steal to get food. If their access to food is not controlled, they will gorge until they become so obese that they die. They do not vomit or purge in other ways as bulimics do. Paradoxically, Prader-Willi babies are usually thin and weak. They eat very poorly. When they do begin to eat, however, they do not stop. Sometimes Prader-Willi is mistakenly thought to be bulimia. Bulimia is a psychosomatic disorder. The person tries to solve problems and improve self-esteem by losing weight. The unhealthy weight loss behaviors hurt the body. Prader-Willi, on the other hand, is the result of a genetic defect. The person shows little concern about body image and gorges because the physiological brakes that control appetite and hunger are defective. Researchers have not yet discovered what causes the genetic defect that leads to Prader-Willi. It does not seem to run in families. It involves some sort of malfunctioning in the hypothalamus, a major control center in the brain.

45. Genotropin.com Prader-Willi Syndrome praderwilli syndrome (PWS) is a genetic disorder that occurs in children.PWS was first described as a distinct complex of symptoms by Drs. http://www.genotropin.com/patients/prader_willi/

46. Special Child: Disorder Zone Archives - Prader-Willi Syndrome praderwilli syndrome For more information on Prader-Willi, visit these helpfulsites The prader-willi syndrome Association (USA) http//www.pwsausa.org/; http://www.specialchild.com/archives/dz-009.html

Disorder Zone Archives Prader-Willi Syndrome Savannah Spears Introduction Prader-Willi syndrome (PWS) is a rare genetic disorder that is predominantly caused by the absence of genetic material on the long arm of the chromosome 15 contributed by the father. However, PWS may also result when an individual is missing chromosome 15 from the father, and instead, has two chromosome 15s from the mother (uniparental disomy), or when there is a mutation on the paternal chromosome 15. PWS is estimated to occur in 1 in 12,000 to 1 in 15,000 live births. Though it is considered a rare disorder, it is the most common genetic cause of obesity. Males and females are affected equally and PWS occurs in all races. Most cases of PWS are the result of new spontaneous genetic errors that occur some time around the point of conception. In approximately 2% of cases, however, there is a mutation that is passed down from the parent, causing PWS. In these cases, more than one child may be affected in the family. Descriptions of individuals with PWS date as far back as the 17 th century, however, in 1956, doctors A. Prader, H. Willi, and A. Labhart published a brief paper describing a syndrome which was characterized by obesity, short stature, lack of muscle tone in infancy, cryptorchism, and mental retardation. They later presented the disorder at the 8

47. Prader-Willi Syndrome ERIC Clearinghouse on Disabilities and Gifted Education praderwilli syndrome(April 1998) What information do you have on prader-willi syndrome ? http://ericec.org/faq/praderwl.html

Prader-Willi Syndrome (updated March 2003) The ERIC Clearinghouse on Disabilities and Gifted Education (ERIC EC) The Council for Exceptional Children 1110 N. Glebe Rd. Arlington, VA 22201-5704 Toll Free: 1.800.328.0272 E-mail: ericec@cec.sped.org Internet: http://ericec.org What information do you have on Prader-Willi Syndrome ? The following information is from the Prader-Willi Syndrome Association: Prader-Willi Syndrome (PWS) is an uncommon, noninherited birth defect, lifelong and life-threatening, affecting all races and both sexes. Prevalence is estimated to be 1:12,000 to 15,000. Its characteristics include hypotonia, insatiable appetite, obesity if food intake is uncontrolled, hypogonadism and incomplete sexual development, developmental delays, variable degrees of mental retardation or functional retardation, short stature (adult), small hands and feet, mild dysmorphology, and behavior problems which can be severe. The cause of this condition is unclear. Approximately 70% have an interstitial deletion or other abnormal finding on chromosome 15, using high resolution (prometaphase) analysis. The remainder have two maternal chromosome 15s and no paternal 15 (maternal uniparental disomy). Diagnosis of infants with PWS is difficult. Newborns are hypotonic, lethargic, exhibit genital hypoplasia, and often require gavage or other special feeding techniques. Prenatally, fetal movement is decreased. Diagnosis in adults is more certain if classic characteristics are present: short stature, small hands and feet, CNS dysfunction, underdeveloped sexual characteristics, poor large muscle strength.

48. The Contact A Family Directory - PRADER-WILLI SYNDROME printer friendly, praderwilli syndrome, prader-willi syndrome ASSOCIATION(UK). prader-willi syndrome Association (UK) 125a London http://www.cafamily.org.uk/Direct/p33.html

printer friendly PRADER-WILLI SYNDROME home more about us in your area conditions information ... how you can help search this site Prader-Willi: cryptorchidism- shortness of stature- obesity- subnormal mentality: Prader-Willi Labhart Prader-Willi Syndrome is characterised by two phases. Under 6 months, hypotonia , sleepiness and feeding difficulties are usually present. Thereafter, hypotonia becomes less, feeding difficulties stop and hyperphagia (over eating) begins, usually between the ages of 2 and 4. Other features, which are variable, include: short stature; cryptorchidism (undescended testicles and under development of genital organs); strabismus (squint); almond-shaped eyes; very small hands and feet; developmental delay in walking and speech; skin picking; scoliosis; diabetes; sleepiness; sleep apnoea; mild to moderate learning difficulties; behavioural problems. Inheritance patterns Prader-Willi Syndrome is usually sporadic and, in approximately 70% of cases, due to a deletion affecting chromosome 15 of paternal origin. These deletions differ in size and can be so small that they can only be detected by molecular genetic techniques. Rarely, it will arise as a result of a chromosomal translocation which may theoretically lead to recurrence. Alternatively, Prader-Willi Syndrome can occur if both copies of chromosome 15 are maternal in origin (maternal disomy) rather than one copy from the mother and one from the father. Genetic testing is now undertaken using DNA rather than direct examination of the chromosomes and may require blood samples from parents.

49. EMedicine - Prader-Willi Syndrome : Article By Ann Scheimann, MD praderwilli syndrome. Last Updated May 24, 2002, Pathophysiology Prader-Willisyndrome is the first human disorder attributed to genomic imprinting. http://www.emedicine.com/PED/topic1880.htm

(advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease Prader-Willi Syndrome Last Updated: May 24, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: PWS, Prader-Labhart-Willi syndrome AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Ann Scheimann, MD , Assistant Professor, Department of Pediatrics, Section of Nutrition and Gastroenterology, Baylor College of Medicine and Johns Hopkins Medical Institution Ann Scheimann, MD, is a member of the following medical societies: North American Society for Pediatric Gastroenterology and Nutrition Editor(s): Michael Fasullo, PhD , Associate Professor, Center for Immunology and Microbial Disease, Albany Medical College; Robert Konop, PharmD , Clinical Assistant Professor, Department of Pharmacy, Section of Clinical Pharmacology, University of Minnesota; Robert Anthony Saul, MD

50. MedWebPlus Subject Periodicals Prader-Willi Syndrome MedWebPlus A service of Flexis, Inc. ADVERTISEMENT click here - ADVERTISEMENT- click here - ADVERTISEMENT advertisement ADVERTISEMENT http://www.medwebplus.com/subject/Periodicals/Prader-Willi_Syndrome

Main About MWP Contribute to MWP Contact Us A service of Flexis, Inc. Welcome to MedWebPlus 2.3! A free service to help you find health sciences information quickly and easily. Periodicals Prader-Willi Syndrome Broader Terms: Genetics Mental Retardation Obesity Related Terms: Angelman Syndrome Fragile X Syndrome Phenylketonuria Tuberous Sclerosis ... Smith-Lemli-Opitz Syndrome Focussed Subsets: Enzymology Genetic Counseling Hereditary Diseases Organizations ... therapy Web Sites: No web sites found. Flexis, Inc. Privacy statement Powered by y-Base

51. Ontario Prader-Willi Syndrome Association @ Www.ezboard.com Ontario praderwilli syndrome Association. Invite Friends! 27 registered members. Ontarioprader-willi syndrome Association, 167, 2/4/03 125800 pm, http://pub40.ezboard.com/bontariopraderwillisyndromeassociation

"); else document.write(""); // > Ontario Prader-Willi Syndrome Association Invite Friends! 30 registered members Login Register Your Free Account Search Help ... Need help logging in? Make a Contribution :: Direct Payment -or- Accept Offer View Contributors We currently have $0.00 in our chest. Forum # Posts Last Comment Moderators Ontario Prader-Willi Syndrome Association 3/30/03 12:49:08 pm Site Suggestions 3/4/03 9:35:16 pm ezboard Ring: ezboard.com Support Forums < div align="center"> Contact Administrator Ontario Prader-Willi Syndrome Association Find Other ezboards Powered By ezboard® Ver. 7.230

52. Ontario Prader-Willi Syndrome Association Contact Administrator Ontario praderwilli syndrome Association Ontarioprader-willi syndrome Association Powered By ezboard® Ver. http://pub40.ezboard.com/fontariopraderwillisyndromeassociationfrm1

"); else document.write(""); // > Ontario Prader-Willi Syndrome Association > Ontario Prader-Willi Syndrome Association Invite Friends! Login Register Your Free Account Search Help ... Need help logging in? Page Topic Replies Last Comment Started By future living arrangments 3/30/03 12:49:08 pm james future living arrangments 3/30/03 12:46:25 pm james starting pws group home? Interest out there? 3/28/03 7:14:14 pm need someone to talk too... 3/9/03 10:36:13 pm by: OPWSA Jeff kiegansdad Support Workers 2/12/03 4:35:08 pm by: myhomeslsattbicom Jaye cooking program at school 2/4/03 12:58:00 pm by: Susan Gracie Dr. Glenn Berall 1/9/03 12:43:02 pm by: OPWSA Jeff Susan GROWTH HORMONE 12/28/02 6:33:05 pm by: gjgraham2 LJJB intro/ appeal 12/14/02 7:25:21 am MacMEND 12/5/02 7:00:01 pm by: OPWSA Jeff Susan new diagnosis 11/28/02 11:04:33 am by: LJJB Dosage of CoQ10? 11/1/02 4:28:55 pm by: LJJB Tammy Suspension/SPCA/Crossing Bridges 10/25/02 11:17:54 am Susan Abuse 10/22/02 12:21:19 pm by: Jaye Jaye It's been a long time! 10/21/02 5:33:05 pm by: OPWSA Jeff Tammy Bott Neurologist/Genetics Dr's 10/18/02 10:16:32 am Susan 60 Minutes II 9/30/02 5:20:54 pm by: OPWSA Jeff Susan Magnetic Locks 9/30/02 9:47:41 am Susan School Suspensions/Adult Transition?

53. HONselect - Prader-Willi Syndrome English praderwilli syndrome, - Labhart-Willi Syndrome - Royer Syndrome - Labhart-Willi-Prader-FanconiSyndrome - Royer's Syndrome - Labhart Willi Prader http://www.hon.ch/HONselect/RareDiseases/C10.271.650.html

List of rare diseases: English Deutsch Language: MeSH term: Accepted terms: English: Prader-Willi Syndrome - Labhart-Willi Syndrome - Royer Syndrome - Labhart-Willi-Prader-Fanconi Syndrome - Royer's Syndrome - Labhart Willi Prader Fanconi Syndrome - Labhart Willi Syndrome Français: PRADER LABHARD WILLI, SYNDROME Deutsch: Prader-Willi-Syndrom - Geistige Behinderung - Labhart-Willi-Syndrom - Royer-Syndrom - Prader-Labhart-Willi-Fanconi-Syndrom Español: SINDROME DE PRADER-WILLI - SINDROME DE LABHART-WILLI - SINDROME DE ROYER Português: SINDROME DE PRADER-WILLI - SINDROME DE LABHART-WILLI - SINDROME DE ROYER HONselect ressources Definition: Yes Articles: Yes Images: No News: No Conferences: No Clinical trials: Yes Web sites: English Yes Français No Deutsch No Español Yes Português No Home About us Site map Feedback ... HONewsletter http://www.hon.ch/HONselect/RareDiseases/C10.271.650.html Last modified: Thu Jul 25 2002

54. Health Information Resource Database: Prader-Willi Syndrome Association (U.S.A.) praderwilli syndrome Association (USA). Contact Information. Jana Lee-Heinemann,Executive Director 5700 Midnight Pass Road Suite 6 Sarasota, FL 34242. http://www.health.gov/NHIC/NHICScripts/Entry.cfm?HRCode=HR0810

55. Whatis CPWSO Canadian praderwilli syndrome Organization. What is Prader-WilliSyndrome? prader-willi syndrome was first described in 1956 http://www.geocities.com/cpwso/whatis.html

C PWSO Canadian Prader-Willi Syndrome Organization What is Prader-Willi Syndrome? Prader-Willi Syndrome was first described in 1956 but it is only now beginning to receive worldwide recognition. It is distinguished by a cluster of symptoms which commonly include low birth weight, poor sucking response and slow weight gain. Physicians may notice other clinical features while parents may note a general body "floppiness," which is indicative of hypotonia. Nevertheless, most children learn to walk and to talk, and to bathe and to dress themselves in due course, although developmental delays ( which vary somewhat from child to child ) will be observed from an early age. Around the age of two a persistent and insatiable appetite develops, which leads to obesity related problems if parents are not forewarned and instructed on diet control. It has been found that children with PWS require fewer calories than their normal peer group to maintain normal body weight. The supervision of a nutritionist who understands the syndrome is beneficial. Due to learning disabilities which are sometimes severe, many children with PWS require Special Education and benefit from a lower pupil to teacher ratio than the normal academic stream.

56. Prader-Willi Syndrome praderwilli syndrome, prader-willi syndrome is a group of symptoms causedby a genetic defect in Chromosome 15. What is prader-willi syndrome? http://www.geocities.com/kbrorman/Prader-Willi_Syndrome.html.html

Prader-Willi Syndrome What is Prader-Willi Syndrome? Prader-Willi Syndrome Prader-Willi Syndrome Parent info. Parent info. Email: kbrorman@yahoo.com Victor is a happy little two-year-old. When he was born, he was a "floppy baby" with very poor muscle tone. Before he was diagnosed with Prader-Willi

57. Prader-Willi Syndrome Association Of Australia Welcome to the praderwilli syndrome Association of Australia Inc ABN 13 100 005561 We are a self help group comprising people born with prader-willi syndrome http://www.pws.org.au/

Welcome to the Prader-Willi Syndrome Association of Australia Inc ABN 13 100 005 561 We are a self help group comprising people born with Prader-Willi Syndrome, parents, friends and interested professionals. The aim of this site is to provide accurate information on Prader-Willi Syndrome (PWS) and resources that are available. You will find details on PWS, photos and stories from some of our members and online articles from our newsletter. There is also information about our association, state PWS associations and our current activities. Please feel free to look around and visit us often. For PWS chat, forum, events and polls try the online community at MC2 just click here. Updated November 2002. Site design: Helen Anderson

58. Prader-Willi Syndrome Association Of Australia praderwilli syndrome Association of Australia Pic, About Us, Prader-WilliSyndrome (PWS) Association of Australia Inc ABN 13 100 005 561 http://www.pws.org.au/us.html

Our Vision: That society recognise, as individuals, all people with Prader-Willi Syndrome and acknowledges and supports their right to participate in all facets of community life. Prader-Willi Syndrome (PWS) Association of Australia Inc ABN 13 100 005 561 The national Association has been operating for a number of years but became offically incorporated in 2000. It comprises representatives from all States, where there is an affiliated PWS group. Whilst the State Associations provide support and services for members in their local area, the national Association is involved in issues that are relevant Australia wide. These include such things as the development and dissemination of educational material about the condition, liaison with Goverment on funding for pharmecutical treatments and the promotion of ethical research into management of the condition. You automatically become a member of the PWSA of Australia when you become a member of your State affiliated PWS Association. Joining a state association gives you the opportunity to make contact with other parents and exchange information. You will also receive our national newsletter, "The Open Door", and your state newsletter. These cover recent advances in PWS and various related topics, as well as news about the association and dates of forthcoming events. For membership forms

59. Necdin Knockouts And The Prader-Willi Syndrome Necdin Knockouts the praderwilli syndrome. The human chromosomal gene for necdin,a neuronal growth suppressor, in the prader-willi syndrome deletion region. http://tbase.jax.org/docs/necdin.html

Current Features in TBASE by Anna V. Anagnostopoulos OCTOBER 1999 Booklet Written by Patricia Duno, Ann During, and Janet Jeffers Necdin October 1999 features mice deficient in necdin, generated by replacing the open reading frame with the lac Z gene fused in-frame with the first 31 Ndn codons. et al. report that mutants carrying a paternally inherited Ndn deletion (designated Ndn display neonatal respiratory distress and lethality, reminiscent of the failure-to-thrive phenotype encountered in the Prader-Willi Syndrome (PWS). In humans, this neurobiological condition is characterized by neonatal respiratory repression and hypotonia, followed by hyperphagia, obesity, small stature and gonads, micromelia, and mild mental retardation. Mice heterozygous for the Ndn allele, (TBASE:5597) are hypotonic and perish within 30 hours after birth, while mice surviving the critical 30-hour period show normal postnatal development. Neonatal lethality appears to affect males more than females, and is highly but not fully penetrant in offspring from C57BL/6 mothers, shows only low penetrance with FVB mothers, but is absent when bred from females of other strains. Ndn null homozygotes (TBASE:5598) obtained in mixed genetic backgrounds are also affected by a high incidence of postanatal lethality. Interestingly, removal of the antisense PGK-

60. Necdin Knockouts And The Prader-Willi Syndrome The SNRPN Promoter is not Essential in Genomic Imprinting of the praderwilli syndrome. Amouse model for prader-willi syndrome imprinting-centre mutations. http://tbase.jax.org/docs/Snrpn.html

Current Features in TBASE by Anna V. Anagnostopoulos JULY 2001 Booklet Written by Patricia Duno, Ann During, and Janet Jeffers The SNRPN Promoter is not Essential in Genomic Imprinting of the Prader-Willi Syndrome July 2001 features targeted mutant mice carrying two small nested deletions that encompass exon 1 of the mouse Snrpn gene. A previous mouse model for Prader-Willi syndrome - imprinting center (PWS-IC) deletions has been generated by introduction of a deletion at Snrpn exon 1, which removes 23 kb of upstream sequence as well as exons 1–6. This deletion, whether introduced on the maternal or paternal chromosome in embryonic stem cells, resulted in perinatal lethality in (+/-) pups when transmitted to the germline through male chimeras ( Bielinska et al., 2000 TBASE:6938 TBASE:6939 Yang et al., 1998 ... TBASE:4914 ). In contrast, mice with a deletion of the exons encoding the downstream SmN protein for Snrpn do not show obvious phenotypic alterations ( Yang et al., 1998 TBASE:4912 TBASE:4913 ). In this report, Bressler et al., 2001

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