81. Prader-Willi Syndrome OAASIS INFORMATION SHEET praderwilli syndrome. prader-willi syndrome A PracticalGuide. Author Jackie Waters. 1999. Published by David Fulton Publishers Ltd. http://www.nottssnn.freeserve.co.uk/oaasis/page25.html

OAASIS INFORMATION SHEET Prader-Willi Syndrome Prader-Willi Syndrome (PWS) is a genetic disorder first identified by three Swiss doctors in 1956, Drs Prader, Labhart and Willi. Its features include food obsession, shortness of stature and poor muscle tone. It affects boys and girls alike, and occurs in families from all backgrounds. Research indicates that PWS may result because of four different genetic abnormalities on chromosome 15. In approximately two-thirds of cases the disorder happens because of a deletion Early indications: Physical characteristics: Developmental delays: Motor and language skills will be affected, resulting in late walking and talking plus problems with articulation. Behaviourally: Other: Possibly high pain threshold, sleep disorders, breathing difficulties, curvature of the spine and physical inactivity. Psychiatric problems are not uncommon in adolescents and adults. In general : Comprehension is generally better than verbal skills. Moderate learning difficulties across the board are common, but severe learning difficulties are rare. Many individuals will have specific difficulties with maths, writing, short-term memory and auditory processing. Children with PWS have good visual organisation (parents have observed a higher than average ability to do jigsaw puzzles), good reading skills and a wider than average vocabulary. When they are older they may be over-friendly, chatter a lot, be immature compared with their peers and be socially isolated.

82. BehaveNet® Clinical Capsule™: Prader-Willi  Syndrome mental disorder praderwilli syndrome (PWS). Although technically not includingsleep apnea. Also prader-willi syndrome Association. http://www.behavenet.com/capsules/disorders/Prader-Willi.htm

BehaveNet mental disorder : Prader-Willi syndrome (PWS) Although technically not a mental disorder (Physical manifestations dominate this genetically transmitted developmental disorder.), Prader-Willi syndrome is included here because of its behavioral manifestations which can include compulsive skin picking , feeding problems in infancy, temper outbursts, perseveration obsessive compulsive symptoms , lying, stealing, stubbornness, and sleep disturbances including sleep apnea Also: Prader-Willi Syndrome Association http://www.behavenet.com/capsules Request New Term BehaveNet®

83. EP Associations - Prader-Willi Syndrome Association (USA) praderwilli syndrome Association (USA). Janalee Heinemann is the executive directorof PWSA (USA) and mother to Matt, age 28, who has prader-willi syndrome. http://www.eparent.com/resources/associations/pwsausa.htm

RESOURCES EDUCATION HEALTHCARE LIFE PLANNING ... TOYS Eparent Services: Reader Feedback EP Library Archived Articles Publisher’s Message ... Children’s Page Search Eparent: Associations: Prader-Willi Syndrome Association (USA) PWSA (USA) is the only national membership organization for children and adults with Prader-Willi syndrome and their families in the United States. It has been serving children and adults with the syndrome for more than 25 years and currently has 33 state and regional chapters. The Association was incorporated in 1977, and has an IRS 501(c)3 tax exemption status. By 1988, PWSA had become a multifaceted international organization and currently serves members from 32 other nations. EDUCATIONAL MATERIALS— Few other resources in the world, if any, provide the educational and syndrome management publications of PWSA (USA), thanks to thousands of hours of donated time and skills by professionals and parents. Like the executive director, many of their parents are also professionals. PWSA (USA) offers ten videos, thirty-five educational books and/or booklets, and fourteen brochures that cover medical, emotional, and behavioral management. Almost all of the work by the state and regional chapters is done on a volunteer basis. Last year, PWSA (USA) mailed, at no charge, more than 2,200 Awareness packets and 3,000 Educational packets. NATIONAL CONFERENCE— The annual national conferences sponsored by PWSA and hosted by the state chapters are the largest in the world (an average of 1,000+ attendees) specifically designed for education and support for those dealing with Prader-Willi syndrome. This conference is actually several conferences going simultaneously – for scientists and other medical professionals, for providers and teachers, for parents and relatives, for those with PWS, and for siblings.

84. EP Ask The Experts - Prader-Willi Syndrome Ask the Experts Back. praderwilli syndrome by Merlin G. Butler,MD, PhD, FACMG. prader-willi syndrome (PWS) includes a collection http://www.eparent.com/resources/asktheexperts/askthedoctor_willie.htm

RESOURCES EDUCATION HEALTHCARE LIFE PLANNING ... TOYS Eparent Services: Reader Feedback EP Library Archived Articles Publisher’s Message ... Children’s Page Search Eparent: Ask the Experts: Prader-Willi Syndrome by Merlin G. Butler, MD, PhD, FACMG Prader-Willi syndrome (PWS) includes a collection of signs or symptoms characterized by hypotonia in infancy, obesity in early childhood, mental retardation, small hands and feet, underdevelopment of the sex organs, and a particular facial appearance. Prader-Willi syndrome is due to a chromosome 15 abnormality, usually a deletion on chromosome number 15 involving the long arm. The deletion includes several dozen genes. Interestingly, those individuals who have PWS as a result of the deletion of part of chromosome 15 inherit that deletion from their fathers. Other people with Prader-Willi syndrome have maternal uniparental disomy in which both chromosome 15s come from the mother. A small percentage of individuals have an imprinting mutation of genetic material or DNA from chromosome 15 that controls the activity or expression of genes. In the majority of PWS families the recurrence risk is low (less than 1 percent), but in rare instances a father may carry an imprinting mutation and have a higher risk (possibly 50 percent) of passing on the mutation to a child with PWS. We recommend that families with PWS consult a medical geneticist to assess their risk for other children with PWS.

85. Policy Resource - Prader Willi - Management Of Prader-Willi Syndrome 3rd Edition Download Attachment Prader Willi - Management of prader-willi syndrome (3rd Edition),PDF Download information If you have any trouble with the attachment http://hnb.dhs.vic.gov.au/ds/disabilitysite.nsf/pages/prov_policies_p_praderwill

86. Prader-Willi Syndrome praderwilli syndrome. About prader-willi syndrome. prader-willi syndromeis a group of symptoms caused by a genetic defect in Chromosome 15. http://www.keycommres.org/pages/Prader-Willi.html

Prader-Willi Syndrome Located in a suburban setting of the Pocono Mountain area of Pennsylvania, this innovative program is changing lives dramatically! For over 35 years, Keystone Community Resources has been providing services and supports to individuals with Mental Retardation and Developmental Disabilities. Over the last decade, we have expanded our residential programs to include serving people with a special type of disability: Prader-Willi Syndrome. About Prader-Willi Syndrome Prader-Willi Syndrome is a group of symptoms caused by a genetic defect in Chromosome 15. The symptoms include many, although not all of the following: Central Nervous System malfunction including impaired body control and mental retardation with an average IQ score of 70. Dysfunction of the hypothalamus affects physical growth, sexual development, appetite, temperature control, and emotional stability. Hypotonia during infancy with poor motor control, weak cry and poor sucking ability. Although children get stronger as they grow older, muscle tone usually remains lower than normal. Short stature, with adults reaching about five feet in height. Other physical characteristics include small hands, feet, and a narrow forehead.

87. Support - Prader-Willi Syndrome Association - Everybody.co.nz praderwilli syndrome ASSOCIATION OF NEW ZEALAND. WHAT IS prader-willi syndrome? Prader-WilliSyndrome Association (NZ) Inc. Annual membership is NZ$20. http://www.everybody.co.nz/support/prader-w.html

Advertisers do not influence the content of this page home ll search ll conditions ll bulletin board ll healthy living ll ll NZ health scene ll health research ll tools quizzes ll NZ health support groups ll find an LMC ll hospitals ll nutrition research ll OTC medicines guide ll contact ll about us Allergy Arthritis Asthma, Respiratory ... Women's Health Find an LMC Click here to find a Lead Maternity Carer in your area. Maps NZ hospitals street map directory. Click here. Sex Files For sexual health info in association with the Auckland Sexual Health Service click here.

88. Prader-Willi Syndrome Association praderwilli syndrome Association (UK). Address 33 Leopold Street. Derby.DE1 2HF. Leaflets What is prader-willi syndrome? Click here to download http://www.cee.hw.ac.uk/genisys/pub/pwsa.html

Location: Information on Genetics Genetics Related Links Prader-Willi Syndrome Association Prader-Willi Syndrome Association (UK) Address: 33 Leopold Street Derby Telephone: WWW: http://www.pwsa-uk.demon.co.uk/ Leaflets: What is Prader-Willi Syndrome? Click here to download ... Contacts, Information, Services, Books, Leaflets, Regional Advisers Click here to download ... Prader-Willi Syndrome Association (UK) Membership Form Click here to download ... These are in .pdf format and require Acrobat Reader Click here to get Acrobat People: Welfare Services Coordinator Rosemary Johnson Tel and Fax: 01483 724 784 Jackie Waters Tel and Fax: 01332 668 790 Jackie@pwsa-uk.demon.co.uk Office Administrator Roger Morbey Tel and Fax: 01332 36 56 76 Roger@pwsa-uk.demon.co.uk genISYS is a joint project between the of Heriot-Watt University,

89. Prader-Willi Syndrome praderwilli syndrome. Who to Contact The prader-willi syndrome Association(USA) 5700 Midnight Pass Rd. Sarasota, Fla 34242 Toll http://www.communicationdisorders.net/prader-willisyndrome.html

Prader-Willi Syndrome Who to Contact The Prader-Willi Syndrome Association (USA) 5700 Midnight Pass Rd. Sarasota, Fla 34242 Toll-Free: (800) 926-4797 Tel: (941) 312-0400 Fax: (941) 312-0142 E-mail: pwsausa@aol.com Web: http://www.pwsausa.org/ The Prader-Willi Foundation 223 Main Street Port Washington, N.Y. 11050 (516) 944-3173 - fax E-mail: PWSyndrome@aol.com Where to Go to Chat with Others Ontario Prader-Willi Syndrome Assoc., "Health Talk" Learn More About It Prader-Willi Syndrome - From PedLynx Prader-Willi Syndrome - From GenClinics Prader-Willi Syndrome - From OMIM PWSA(UK) Publications Online ... Questions and Answers about Prader-Willi Syndrome From the Arc The genes involved in PWS and Angelman Syndrome Web Sites Prader-Willi Syndrome Association (USA) Web Site Ontario Prader-Willi Syndrome Association Prader-Willi Syndrome Association of the United Kingdom HOME

90. Prader-Willi Syndrome praderwilli syndrome. Williams Syndrome and prader-willi syndrome. Prader-WilliSyndrome Arizona Association. prader-willi syndrome Association (USA). http://www.ability.org.uk/Prader_Willi_Syndrome.html

"see the ability, not the disability" You to can help support the Ability Project by: Our Aims ... Z Prader-Willi Syndrome Williams Syndrome and Prader-Willi Syndrome Prader-Willi Syndrome Arizona Association The Children's Institute Oconomowoc Developmental Center ... Webmaster . Site Design by Ability "see the ability, not the disability" Acknowledgments

91. Member Sign In Innovative Treatment Growth Hormone Therapy Evaluated for praderwilli syndromefrom Brown University Child and Adolescent Psychopharmacology Update. http://www.medscape.com/viewarticle/429602

If you are having trouble logging in: In order to use Medscape, your browser must be set to accept "cookies." To find out how to adjust your browser settings, please click here Log In Username Password Forgot your password? Not a Member? Register Now for free access to: MEDLINE (Optimized for Physicians) 200+ Free CME Courses 25 Medical Specialty Sites 100+ Medical Journals Conference Coverage Daily Medical News About Medscape Help WebMD Health

92. Prader-Willi Syndrome References for praderwilli syndrome. • GeneClinic. http//www.geneclinic.org/prader-willi syndrome. • Kosaki K, et al. prader-willi syndrome. Introduction. http://www.aruplab.com/testbltn/angelman.htm

For technical information, contact: Jamie McDonald, M.S. Genetic Counselor, DNA Diagnostics Laboratory, University of Utah For scientific and clinical information, contact: Rong Mao, M.D. Assistant Medical Director, DNA Diagnostics Laboratory, University of Utah Kenneth Ward, M.D. Medical Director, DNA Diagnostics Laboratory, University of Utah References for Prader-Willi Syndrome • GeneClinic. http://www.geneclinic.org/ Prader-Willi Syndrome. • Kosaki K, et al. Prader-Willi and Angelman syndrome: diagnosis with a bisulfite-treated methylation specific PCR method. Am J Med Genet 1997; 73(3):308-313. • Kubota T, et al. Methylation-specific PCR simplifies imprinting analysis. Nature Genetics 1997; 16:16-17. References for Angelman Syndrome • GeneClinic. http://www.geneclinic.org/ Angelman Syndrome. • Kosaki K, et al. Prader-Willi and Angelman syndrome: diagnosis with a bisulfite-treated methylation specific PCR method. Am J Med Genet 1997; 73(3):308-313. • Kubota T, et al. Methylation-specific PCR simplifies imprinting analysis. Nature Genetics 1997; 16:16-17. ARUP Laboratories 500 Chipeta Way Salt Lake City, UT 84108

93. Prader-Willi Syndrome From Pediatrics / Genetics And Metabolic Disease eMedicine Journal Pediatrics Genetics And Metabolic Disease PraderWilliSyndrome Synonyms, Key Words, and Related Terms PWS, Prader-Labhart-Willi http://author.emedicine.com/PED/topic1880.htm

eMedicine Journal Pediatrics Genetics And Metabolic Disease Prader-Willi Syndrome Synonyms, Key Words, and Related Terms: PWS, Prader-Labhart-Willi syndrome Author Information Introduction Clinical Differentials ... Bibliography AUTHOR INFORMATION Section 1 of 11 Authored by 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 Edited by 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 , Senior Clinical Geneticist, Greenwood Genetic Center; Clinical Professor, Department of Pediatrics, University of South Carolina; Paul D Petry, DO, FACOP , Assistant Professor, Department of Pediatrics, Division of Maternal Child Health, Northeast Regional Medical Center; and

94. Prader-Willi Homes Of Oconomowoc - Home Page International Office of the prader-willi syndrome Association. Prader-WilliSyndrome is a genetic disorder involving the 15th chromosome. http://www.pwho-wi.com/

"The most successful alternative to date is the group home set-up to meet the unique needs of people with Prader-Willi Syndrome." - International Office of the Prader-Willi Syndrome Association Prader-Willi Syndrome is a genetic disorder involving the 15th chromosome. The syndrome manifests itself in failure to thrive at birth, borderline to mild mental retardation, insatiable appetite, potential for life threatening obesity, metabolic dysfunction, neurological manifestations, and behavioral issues. These behavioral issues include obsessive behavior, rigid thought processes, perseveration, verbal and physical aggression, temper tantrums, dependence on absolute routine, manipulation, and stubbornness. For over twenty-five years, Oconomowoc Developmental Training Center has provided specialized residential and educational services for persons diagnosed with Prader-Willi Syndrome. ODTC is a nationally recognized leader in the treatment of dually diagnosed children and adults with mental health issues and developmental disabilities as well as the treatment of children with Prader-Willi Syndrome. Prader-Willi Homes of Oconomowoc, now a sister company of ODTC, will independently continue this professional level of care and service to adults with Prader-Willi Syndrome.

95. Prader-Willi Syndrome praderwilli syndrome. Can someone tell me what prader-willi syndrome is, what Aquiredprader-willi syndrome is, how you get it, and what the treatment is? http://neuro-www.mgh.harvard.edu/neurowebforum/ChildNeurologyArticles/PraderWill

Prader-Willi Syndrome This article submitted by Cheryl Ann Jensen on 11/19/95. Can someone tell me what Prader-Willi Syndrome is, what Aquired Prader-Willi Syndrome is, how you get it, and what the treatment is? Thank you. Next Article Previous Article Return to Topic Menu Here is a list of responses that have been posted to this article... You now have TWO OPTIONS: Post a new Article or post a Response to this Article Click here to post a new Article! If you would like to post a Response to this article, fill out this form completely... Do not use slashes ("/") or colons (":") in your Article title! Response Title: Author: Response Text: Original Article: (Don't change this field!) Forum: (Don't change this field either!) Article complete. Click HERE to return to the Neurology Web-Forum Menu.

96. Prader-Willi Syndrome At 22 months of age, he showed several features of praderwilli syndrome, includingdelayed speech (suing single words only), rapid weight gain (wt. http://www.circ.uab.edu/sergg/s95/s95-8.htm

Maternal Uniparental Disomy for Chromosome 15 in a Prader-Willi Patient With a Balanced t(3;21) CM is a caucasian male with an apparently balanced de novo t(3;21) that was diagnosed prenatally. In addition to his translocation, CM also has maternal uniparental disomy (UPD) for chromosome 15. At 22 months of age, he showed several features of Prader-Willi syndrome, including delayed speech (suing single words only), rapid weight gain (wt. 50 lb.,> 95th centile; ht. 90 cm., 75th centile; hc 51.5 cm., 95th centile) and discomfort chewing meat (possibly due to salivary insufficiency). His scrotum was hypoplastic. However, unlike most Prader-Willi patients, his testes were descended, albeit positioned high in the inguinal canal. He also lacked the short stature and small hands and feet commonly seen in PWS patients, perhaps due to the fact that both his parents are very large in stature.

97. Prader-Willi In 1981, the praderwilli syndrome was found to be associated with a very smalldeletion in the long arm of human chromosome 15, between bands q11 and q13 http://zygote.swarthmore.edu/chrom3a.html

THE GENES INVOLVED IN PRADER-WILLI AND ANGELMAN SYNDROMES In 1981, the Prader-Willi syndrome was found to be associated with a very small deletion in the long arm of human chromosome 15, between bands q11 and q13 (Ledbetter et al., 1981). However, in 1987, an identical deletion was reported in a number of patients who suffered from a very different disease, Angelman syndrome. These syndromes give quite distinct phenotypes (Figure 1). Prader-Willi syndrome is characterized by developmental delay, cryptorchidism (small or undescended testes), hyperphagia obesity (fatness due to overeating in an attempt to reach satiety), short stature, and mild retardation. Angelman syndrome is characterized by seizures, severe mental retardation, inappropriate laughter, and a characteristic face that is small with a large mouth and prominent chin. FIGURE 1. Typical phenotypes of Angelman (left) and Prader-Willi (right) syndrome patients. The difference between them belies the fact they they are caused by the same chromosomal deletion. (From Nicholls, 1994; Photographs courtesy of R. D. Nicholls). The resolution to the paradox of two different syndromes caused by the same chromosomal deletion came in 1989 when it was discovered the Prader-Willi syndrome was always caused by defects involving the paternally derived chromosome, while Angelman syndrome was always caused by deletions in the maternally derived chromosome (Knoll et al., 1989).

98. CPS CPSP Prader-Willi Syndrome praderwilli syndrome Principal investigator. Consultant. Nita Goldband, ExecutiveDirector, Ontario prader-willi syndrome Association. Background. http://www.cps.ca/english/CPSP/Studies/prader.htm

99. Prader Willi Syndrome Info Brief Information Brief on Developmental Disabilities. 1998 praderwilli syndrome.prader-willi syndrome is a rare birth defect. Causes of prader-willi syndrome. http://www.moddrc.com/Information-Disabilities/FastFacts/prader.htm

Information Brief on: Developmental Disabilities Prader-Willi Syndrome Prader-Willi Syndrome is a rare birth defect. About 1 in 14,000 babies are born with Prader-Willi Syndrome. Characteristics of Prader-Willi Syndrome include decreased muscle tone, developmental delays, insatiable appetite, incomplete sexual development, short adult stature, small hands and feet, and severe behavior problems. Infants with Prader-Willi Syndrome are usually of normal size. They have weak muscle tone and poor reflexes. Because they are unable to suck well, they often have to be fed through a tube, or fed with special nipples. They tend to be lethargic, and have a weak cry. As babies age, developmental delays are common. Sitting may occur when babies are about a year old. Walking is usually accomplished at the age of two. Language development is often delayed, and articulation poor. Compulsive eating usually begins between the ages of two to four, occasionally beginning as late as six. People with Prader-Willi have an insatiable desire for food. Sneaking food and stealing food are common. If allowed to eat as much as they want, most people with Prader-Willi Syndrome become considerably overweight. A dysfunction in the part of the brain called the hypothalamus keeps them from knowing when they have had enough to eat, and keeps them craving food.

100. Prader Willi Syndrome, PWS Special Resources SOS Ask experts or consultants for information PraderWilli syndrome. A Selection of Internet Sites * Outstanding http://ibis-birthdefects.org/start/pwfact.htm

Tips for printing Prader Willi Syndrome About I.B.I.S. Home Search Topics Search all contents ... "In the News" Messages... Questions/comments Report Dead Links S.O.S. - Exchange Join I.B.I.S. ... Etchings Please Explore: Support Groups Professional Associations Key Information Sources Prader Willi Syndrome PWS Special Resources Prader Willi Syndrome A Selection of Internet Sites [*] Outstanding [P] For Professionals [German] [Norwegian] [Ukrainian] [*] [P] Prader Willi Syndrome Chromosome Region; PWCR Prader Labhart Willi Syndrome OMIM - An authoritative and comprehensive information resource mostly for medical geneticists. " ... Mothers with prior experience of normal pregnancies almost without exception report distinctly delayed onset and reduced fetal activity during the pregnancies involving PWS ... Neonates are profoundly hypotonic ... Cryptorchidism occurs with hypoplastic penis and scrotum in boys and hypoplastic labiae in girls ... hypotonia ..." [*] [P] GeneClinics: Prader Willi, PWS, HHHO (Hypotonia, Hypogonadism, Hypomentia, Obesity) Syndrome An authoritative and comprehensive review (1998) by S.B. Cassidy and S. Schwartz. [P] A crisp outline of PWS most appropriate for pediatricians and other family health care providers.

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