Geometry.Net - Health_Conditions: Prader-willi Syndrome

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

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

Extractions: 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
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

Extractions: (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.
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

Extractions: Prader-Willi syndrome is a congenital problem that affects one in every ten to fifteen thousand children. It includes the following characteristics: 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.
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/
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

Extractions: 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
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

Extractions: 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.
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

Extractions: 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.
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

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

Extractions: 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. 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.
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 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/

Extractions: 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.
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

Extractions: 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
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

Extractions: by Anna V. Anagnostopoulos Booklet Written by Patricia Duno, Ann During, and Janet Jeffers 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-
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

Extractions: by Anna V. Anagnostopoulos Booklet Written by Patricia Duno, Ann During, and Janet Jeffers 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 16. 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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