Talk:Prader–Willi syndrome

Wiki Education Foundation-supported course assignment

This article was the subject of a Wiki Education Foundation-supported course assignment, between 27 August 2018 and 7 December 2018. Further details are available on the course page. Student editor(s): Maryelkommos. Peer reviewers: Maryelkommos.

Above undated message substituted from Template:Dashboard.wikiedu.org assignment by PrimeBOT (talk) 07:06, 17 January 2022 (UTC)

Top picture doesn't match caption?

I don't know anything about PWS, but the top image doesn't seem to match the description. The description says "Patient with the syndrome showing characteristic facial appearance, with elongated face, prominent nose, and smooth philtrum", but the face doesn't seem elongated, nor does the philtrum appear smooth. —Preceding unsigned comment added by 67.101.149.175 (talk) 21:54, 30 September 2010 (UTC) This picture is inappropriate because we haven't respected the privacy of this person. This boy should have his eyes blacked out at least. — Preceding unsigned comment added by 24.83.172.133 (talk) 00:42, 13 May 2012 (UTC)

The first two pictures in this article are the wrong syndrome. They're patients with 22q11.2 deletion syndrome (you can see they have digital watermarks from 'Images in Paediatric Cardiology' and people with PWS don't have a lot of congenital heart disease). The 'tubular' nose and slightly simple ears are features of 22q11 DS. The original images are from: Digilio MC, Marino B, Capolino R, Dallapiccola B. Clinical manifestations of Deletion 22q11.2 syndrome (DiGeorge/Velo-Cardio-Facial syndrome). Images Paediatr Cardiol 2005;23:23-34 http://www.impaedcard.com/issue/issue23/digiliom/digiliom.htm Afry (talk) 00:21, 21 February 2011 (UTC)

Reviewing the article after a few years I can see someone has put back in the images of two patients with Deletion 22q11.2 syndrome (DiGeorge syndrome). I am going to remove them. They don't look like children with PWS and they clearly come from an published article on 22q11.2 deletion syndrome. It is a different genetic condition! Putting in the pictures of the wrong condition is confusing for readers and potentially distressing for patients/families! Afry (talk) 12:18, 4 September 2016 (UTC)

Is that appropriate?

In the treatment portion of the article, it reads:

Throughout their lives, the subject's food should literally be kept under lock and key, since the largest problem associated with the syndrome is severe obesity.

Food kept under lock and key? Does Prader-Willi syndrome cause an abnormal desire for unnecessary consumption of food? If not, is that not statement not offensive? I'm a skinny guy, but I'd imagine 100 million overweight Americans wouldn't be pleased if they read this. Baribeau 00:05, 29 March 2007 (UTC)

I don't know much about Prader-Willi syndrome, but on the documentary I watched called "Can't Stop Eating," two individuals with PW syndrome were followed with a camera crew. It seemed to me that the individuals family, and caretakers, kept them away from the kitchen as much as possible. Actually, the teenage boy was at a center where the kitchen was literally locked tight to prevent him from getting in. It might not be that far fetched because the appetite seems to be unbearable for those with PW syndrome. As for offending overweight people - I would hope that the 100 million overweight Americans (I being one of them) would understand the situation. a person with PW syndrome has an appetite that is far more extreme than an average overweight persons. Poetic^X_contribs 03:01, 30 April 2007 (UTC)

Yes, PW syndrome does cause massive, excessive consumption of food, and it does literally need to be lock away from them. DocGratis 00:52, 3 June 2007 (UTC)

It might depend on how the parents raise the child and the rules, but my brother has PWS and he doesnt need the fridge to be locked. he is however addicted to routines, if something in his routines changes he can have a tantrum. but after 20 minutes its okay. with routines by eating and that stuff he can go on his daily life without us having to lock the fridge. its all about how the child is raised by their parents. Florenciatoday (talk) 21:38, 17 October 2024 (UTC)

I heard somewhere that Prader willi victims are always under the idea that there starved near to death because of the lack of messeges from the stomach, —Preceding unsigned comment added by 92.11.23.20 (talk) 14:29, 17 August 2009 (UTC)

my brother had this syndrome and yes, the person with this syndrome does not know never feel the satisfaction of being full up. He/she will always feel the urge to eat. Also why did you bring Americans in this? btw I'm Irish —Preceding unsigned comment added by Paulandmomo1 (talk • contribs) 00:43, 16 August 2010 (UTC)

Individuals with PWS have little or no impulse control when it comes to food. Virtually their entire lives revolve around getting food, having food, thinking about food and eating food. PWS is a genetic and psychiatric disorder. Most individuals who are overweight have control over themselves (whether or not they choose to exercise that control). For people with PWS, the control is, and never will be there. They literally cannot help themselves...they require a great deal of assistance and support. Food cravings and eating can be managed with routine, structure and consistency, but it is a lifelong struggle. — Preceding unsigned comment added by 174.91.138.50 (talk) 03:38, 16 November 2011 (UTC)

This page is plagiarized

This page appears to be copied from genetests.org. I'll work on replacing it soon InvictaHOG 01:50, 11 October 2005 (UTC)

How about some kind of symptoms? Bihal 11:29, 17 April 2006 (UTC)

I just saw a little thing on CNN about this which attributes retardation to the disorder as well. i'll put it in Joeyramoney 00:27, 10 June 2006 (UTC)

Prader-Willi Syndrome in the media

How about some references here. The author seems to assume that we know what market "channel 4" services —Preceding unsigned comment added by Phreed100 (talk • contribs) 18:51, 9 June 2008 (UTC)

channel four did do a documentary on pws —Preceding unsigned comment added by Paulandmomo1 (talk • contribs) 00:48, 16 August 2010 (UTC)

Appropoiatness of the Picture in the Intro...

The caption reads "A 1680 painting by Juan Carreno de Miranda of a girl presumed to have Prader-Willi syndrome." Presumed by who? If we don't have a reputable source making the assumption, we can't make that claim, and the picture needs to be replaced. Seeing as the condition has only been described since 1956, I'm finding this unlikely. I added the tags, please try to address this in a timely manner. 24.190.34.219 (talk) 16:30, 6 September 2009 (UTC)

Jawohl Kapitan 24.190.34.219! Try Google, the 3rd hit on page 6 of The Poetry of Genetics: On the Pitfalls of Popularizing Science. Feel free to sort the references out yourself.

Photo of PWS patient

The current picture showing a patient with PWS has the caption: "note the absence of typical PWS features". If this article is supposed to be informative, how about we try to find a picture of a patient that actually HAS the typical features? 147.8.62.99 (talk) 13:48, 8 February 2010 (UTC)

12 years later, and that's the first thing I noticed about the article. The picture at the top has the eyes boxed out, so there is no picture showing facial features. Why not remove both of them if they are not helpful? --2607:FEA8:FF01:4E54:B138:19EB:6403:95EC (talk) 01:19, 2 February 2022 (UTC)

Suffer from

It is inappropriate to say that individuals suffer from any disability. This assumes a variety of things of the individual with the disorder. People have disorders, they do not "suffer" from them and many individuals would find this terminology offensive. A disability can be defining and important to the person that has it.

People suffer from diseases, not disabilities. —Preceding unsigned comment added by 68.104.157.139 (talk) 14:13, 23 September 2010 (UTC)

This is political correctness. I have a mild disability that gives me poor eyesight and makes it impossible for me to drive, in a culture where driving is expected. I don't find the word "suffer" offensive, nor do I find the disability "defining and important" to me, just frustrating. 2001:558:6011:1:E592:162A:3D0B:1B42 (talk) 00:57, 2 April 2018 (UTC)

Society and Culture

"In Judas Strain, a book by James Rollins, victims of an unknown plague suffer from Prader-Willi as a side-effect, gorging themselves on human flesh until their stomachs explode."

Is this sentence relevant or necessary to an encyclopedic article about a congenital medical disorder? Does it augment the general understanding of the disease this article hopes to establish, or is it simply a plug for some fantasy novel? Inoculatedcities (talk) 00:35, 18 October 2011 (UTC)

I reworded it. The disorder is named in the book so I guess the item is as valid as any other 'in popular culture' reference. I don't think it's a plug, but I think the person who added it may not have read the article carefully. Saying victims "suffer from Prader-Willi as a side-effect" suggests the person who added it thinks that Prader-Willi syndrome is just another word for 'overating' rather than a disorder which causes overeating, among other things. Also, viruses don't have 'side effects', they have symptoms. Drugs and treatments have side effects. 68.33.14.232 (talk) 17:13, 28 November 2011 (UTC)

Published Clinical Diagnostic Criteria for PWS - 1993

Source: http://pediatrics.aappublications.org/content/108/5/e92.full.pdf

The purpose of scoring is to refer the subject for Genetic Testing.

To score, major criteria are weighted at 1 point each, and minor criteria are weighted at 1⁄2 point each. Supportive findings increase the certainty of diagnosis but are not scored. For children 3 years of age or younger, 5 points are required, 4 of which should come from the major group. For children 3 years of age and for adults, a total score of 8 is required and major criteria must comprise 5 or more points of the total score.

TABLE 1. Published Diagnostic Criteria for PWS Major Criteria 1. Neonatal and infantile central hypotonia with poor suck, gradually improving with age 2. Feeding problems in infancy with need for special feeding techniques and poor weight gain/failure to thrive 3. Excessive or rapid weight gain on weight-for-length chart (excessive is defined as crossing two centile channels) after 12 months but before 6 years of age; central obesity in the absence of intervention 4. Characteristic facial features with dolichocephaly in infancy, narrow face or bifrontal diameter, almond-shaped eyes, small- appearing mouth with thin upper lip, down-turned corners of the mouth (3 or more are required). 5. Hypogonadism — with any of the following, depending on age: a. Genital hypoplasia, (male: scrotal hypoplasia, cryptorchidism, small penis and/or testes for age ( 5th percentile); female: absence or severe hypoplasia or labia minora and/or clitoris b. Delayed or incomplete gonadal maturation with delayed pubertal signs in the absence of intervention after 16 years of age (male: small gonads, decreased facial and body hair, lack of voice change; female: amenorrhea/oligomenorrhea after age 16) 6. Global developmental delay in a child 6 years of age; mild to moderate mental retardation or learning problems in older children 7. Hyperphagia/food foraging/obsession with food 8. Deletion 15q11 – 13 on high resolution ( 650 bands) or other cytogenetic molecular abnormality of the Prader-Willi chromosome region, including maternal disomy Minor Criteria 1. Decreased fetal movement or infantile lethargy or weak cry in infancy, improving with age 2. Characteristic behavior problems – temper tantrums, violent outbursts, and obsessive-compulsive behavior; tendency to be argumentative, oppositional, rigid, manipulative possessive, and stubborn; perseverating, stealing, and lying (5 or more of these symptoms required) 3. Sleep disturbance and sleep apnea 4. Short stature for genetic background by age 15 (in the absence of growth hormone intervention) 5. Hypopigmentation — fair skin and hair compared with family 6. Small hands ( 25th percentile) and/or feet ( 10th percentile) for height age. 7. Narrow hands with straight ulnar borders 8. Eye abnormalities (esotropia, myopia) 9. Thick viscous saliva with crusting at corners of the mouth 10. Speech articulation defects 11. Skin-picking Supportive Findings 1. High pain threshold 2. Decreased vomiting 3. Temperature instability in infancy or altered temperature sensitivity in older children and adults 4. Scoliosis and/or kyphosis 5. Early adrenarche 6. Osteoporosis 7. Unusual skill with jigsaw puzzles 8. Normal neuromuscular studies

The article concludes: When definitive diagnostic testing is not available, as was the case for PWS when the 1993 criteria were developed, diagnostic criteria are important to avoid overdiagnosis and to ensure that diagnostic test development is performed on appropriate samples.

When diagnostic testing is available, as is now the case for PWS, diagnostic criteria should serve to raise diagnostic suspicion, ensure that all appropriate people are tested, and avoid the expense of testing unnecessarily. Results indicate that the sensitivities of most of the published criteria are acceptable. However, 16.7% of patients with molecular diagnosis did not meet the 1993 clinical diagnostic criteria retrospectively, suggesting that the published criteria may be too exclusive.

Photo (again) - caption and description say the opposite

The box with the photo says "Prader-Willi syndrome phenotype at 15 years of age. Note presence of typical PWS facial features and mild truncal obesity", while the image description page has "Note absence of typical PWS facial features and presence of mild truncal obesity". Which is considered correct? 212.225.122.45 (talk) 17:40, 30 October 2013 (UTC)

I've changed the description in the box on the page, as the source on PubMed explicitly matches that found on the page description. Even if some of the facial features seem present, I don't think we can reinterpret what the source says. 212.225.122.45 (talk) 17:46, 30 October 2013 (UTC)

Fairness of the name

So Labhart, Ziegler and Fanconi miss out? Shouldn't it be Prader-Willi-Labhart-Ziegler-Fanconi, or PWLZF? Just doesn't seem fair to the other cofounders? 134.148.71.167 (talk) 09:43, 8 October 2014 (UTC)

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Sourcing

I noticed that the 400,000 sufferer figure leads to a dead link on the Huffington Post website. I found the original source and it led me to another source, a 2002 paper:

Carrel AL, Myers SE, Whitman BY, Allen DB (April 2002). "Benefits of long-term GH therapy in Prader-Willi syndrome: a 4-year study". J. Clin. Endocrinol. Metab. 87 (4): 1581–5.doi:10.1210/jc.87.4.1581. PMID 11932286.

I don't know how to properly modify the text for the sourcing on Wikipedia, so if anyone can do that change, that would be great. --Agamemnus (talk) 22:42, 17 October 2015 (UTC)

Appetite

The article's current description of the constant ravenous hunger which torments Prader-Willi patients seems understated, dry, and clinical. I don't wish to sensationalize, but as it stands, I fear that the reader may not get a true picture of how god-awful this syndrome is, for the patients, and for the care-givers, who must relentlessly steel themselves against the patients' unceasing, and often heart-rending, demands for more food. I am attempting to correct this, and I am mentioning the fact that caregivers need to strictly limit access to food, usually by installing locks on the refrigerator and on all food-storage places. With a reference, of course. HandsomeMrToad (talk) 10:12, 16 June 2016 (UTC)

Nothing wrong with dry. Doc James (talk · contribs · email) 16:23, 4 September 2016 (UTC)

PWS is not autosomal dominant, it is a genetically imprinted syndrome

PWS is not an autosomal dominant disorder and this is a huge miscommunication. PWS is a genetically imprinted syndrome (the first one ever identified if I am not mistaken). Normally healthy adults have expression of both maternal and paternal PWS critical region genes on chromosome 15q11.2-13. About 3/4 of PWS patients have absence of paternally derived genes here, the remainder are due to various rare or yet to be elucidated mechanisms. The maternally inherited genes are silent in all normal people, with loss of the paternal genes due to imprinting PWS ensues. It is misleading to call this an autosomal dominant disorder, if that terminology is used it should be explained in further detail. It is generally believed that the imprinting is caused by methylation of the allele, not an autosomal dominant phenomenon. Source: $500k medical education, Robbins & Cotran 9e.

Thanks. We have another good ref [1] Doc James (talk · contribs · email) 02:01, 10 April 2017 (UTC)

Harvey Price

Incoherent IP soapbox/ trolling, obscenity
The following discussion has been closed. Please do not modify it.
Put Harvey price in. Sky living documentary/ evening standard/ any number of guff tabloid nonsense you have a channel 4 documentary as a behaviour Source. I fail to see how Harvey is getting excluded. Racism? — Preceding unsigned comment added by 86.139.68.14 (talk) 21:45, 12 April 2017 (UTC) Could you provide one good source here? But even if you could, there is currently no section for "Notable cases" in this article, so the addition of one celebrity name would be wholly unbalanced and contrary to WP:WEIGHT. Thanks. Martinevans123 (talk) 22:33, 12 April 2017 (UTC) http://www.radiotimes.com/blog/2011-07-01/tv-ratings-320000-watch-katie-prices-harvey-documentary-on-sky-living please see original documentary. Discussed at some length are there many other people with the condition in the public eye? Source does not even say Prader Doc James (talk · contribs · email) 03:03, 13 April 2017 (UTC ill) Fair do's the doc does talk about it at length, but we can give Harvey a by if you want to patch it. Can I slam in some info from a study on pws mouse models? Have some interesting info on negative feedback loops and malformation of enzymes/changes in activation energonics. No, you can't. Martinevans123 (talk) 20:13, 13 April 2017 (UTC) Awfully silly.

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This is a disease caused by A loss of function in a genetic gene, specifically in chromosome number 15 (is deleted).That could cause various disabilities, some of these disabilities are behavior problems, intellectual disability, and short stature. 161.45.254.242 (talk) 12:47, 1 October 2018 (UTC)

Prader- Willi syndrome

PWS is not inherited but instead the genetic changes happen during the formation of the egg, sperm, or in early development.[3] There has not been any risk factors due to this inheritance.[7] Those who have one child with PWS have less than a 1% chance of the next child being affected.[7] syndrome (PWS) is a genetic disorder caused by the loss of function of specific genes.[3] In newborns symptoms include weak muscles, poor feeding, and slow development.Martinafarag (talk) 14:59, 3 October 2018 (UTC)

Do you have a particular point to make here, or do you have a question? Thanks. Martinevans123 (talk) 22:41, 16 November 2018 (UTC)

References

Prader- Willi syndrome

Work by student editors posted here by mistake
The following discussion has been closed. Please do not modify it.
The treatment, however, may improve outcomes, especially if carried out early.[4] In newborns feeding difficulties may be supported with feeding tubes.[6] Strict food supervision is typically required starting around the age of three in combination with an exercise program.[6] Growth hormone therapy also improves outcomes.[6] Counseling and medications may help with some behavioral problems.[6] Group homes are often necessary in adulthoodFatema alkhafaji (talk) 15:02, 3 October 2018 (UTC) Genetics: “During the early 1980s, scientists puzzled over why some people who seemed to have PWS did not have the chromosome 15 deletion, and why some people with the chromosome 15 deletion seemed to have a different condition from PWS. Dr. Merlin Butler and colleagues began unraveling the puzzle when they reported in 1983 that the chromosome 15 deletion in PWS was on the father’s chromosome” (pwsausa.org). In other words, PWS is not only just caused by deletion of chromosome 15 but can also be caused by maternal uniparental and imprinting defect (pwsausa.org). The other type of PWS is an individual person have duplicated chromosomes (ghr.nlm.nih.gov). “PWS in conjunction with Angelman syndrome (AS) represent perhaps the best examples of genomic imprinting in humans. The majority of the genes in mammals display a Mendelian pattern of expression where normal alleles inherited from each parent are equally expressed” (nature.com). Which means that the parental code or gene is being deleted from the offspring also deleting the same chromosome from the maternal side causing Angelman syndrome disease. “The exact function of each of the genes in determining the PWS phenotype remains to be elucidated, although possible insight has been gained by work with mouse models by multiple investigators” (nature.com). After all the work scientists have done, there is still not a specific reason why PWS would happen. “Furthermore, rigorous neurobehavioral studies have not been performed to determine whether these individuals have the typical PWS behavioral phenotype” (nature.com). Even though, there has been a lot of advances in understanding the genetic changes associated with the diseases of PWS; however, the symptoms and genetics region associated with that disease is not understood (fpwr.org). The PWS occurred “In a very small proportion of affected people, PWS has occurred due to a balanced translocation of chromosome 15” (rarediseases.org). PWS can also be caused by the rearrangement of chromosomes, also known as translocation (ghr.nlm.nih.gov). Furthermore, PWS genes are put into four different regions based on common deletion: a proximal non-imprinted, the PWS paternal-only expressed region, the Angelman syndrome (AS) region, and a distal non imprinted region (nature.com). Scientists also believe that there might be other chromosomes that causes PWS. Moreover, there might be some chromosome that works with chromosomes 15 to cause PWS (ghr.nlm.nih.gov). For example, a symptom for PWS is light hair color, the chromosome that is responsible for hair color is OCA2, which is part of chromosome 15 (ghr.nlm.nih.gov). Which means that if chromosome 15 is deleted, OCA2 will get affected, leading to more genetic issues. Such as the human’s phenotype (ghr.nlm.nih.gov).Maryelkommos (talk) 17:21, 16 November 2018 (UTC)Maryelkommos (talk) 16:54, 19 November 2018 (UTC) www.nature.com/articles/gim0b013e31822bead0. www.fpwr.org/about-prader-willi-syndrome#hereditary. www.pwsausa.org/genetics-of-pws/. https://ghr.nlm.nih.gov/condition/prader-willi-syndrome https://ghr.nlm.nih.gov/condition/prader-willi-syndrome https://rarediseases.org/rare-diseases/prader-willi-syndrome/ Maryelkommos (talk) 17:35, 19 November 2018 (UTC) Treatment and Management: The most effective and efficient mode of PWS treatment is through adopting a multi-disciplinary approach. The multidisciplinary action comprises early disease diagnostics, early interdisciplinary action on therapy as well as the treatment growth hormone. For instance, PWS management is dependent on the patient’s age and related symptoms. Following PWS diagnosis, evaluations are made to diagnose the extents of the condition. This diagnosis is further based on age. Newborns are assessed on the basis of sucking challenges. Infants are assessed on the grounds of growth development and young children are diagnosed on the basis of a vision exam. On the other hand, all male patients are evaluated for the presence or absence of cryptorchidism. For treatment or management, infants are introduced to specialize feeding techniques immediately after definite diagnosis (Driscoll Schwartz and Cassidy, 2016). Additionally, young children suffering from PWS also need immediate intervention concerning physical therapy. This therapy is aimed at developing an enhancing muscle strength enabling them to reach physical milestones. The early intervention also involves speech therapy needed to solve language issues. Cryptorchidism, on the other hand, may be left to phase out naturally but in most cases requires hormonal treatment. In instances of young children approaching obese, affected children should be scheduled for balanced diet programs, exercise sessions as well as food uptake scrutiny. In such cases, there is a need for consultation with professional dietitians (Butler, Dykens, and Gold et al. 2018). Abnormal behavioral patterns, on the other hand, may be addressed by employing special behavioral management programs. For adults with obsessive symptoms, injection of serotonin uptake inhibitors is helpful. Stature development can, on the other hand, be rectified by the uptake of growth hormone treatments in the form of growth hormones. Growth therapies employed from infancy to adulthood impacts elements such as language and cognitive abilities as well as motor capabilities. Treatment and Management: The most effective and efficient mode of PWS treatment is through adopting a multi-disciplinary approach. The multidisciplinary action comprises early disease diagnostics, early interdisciplinary action on therapy as well as the treatment growth hormone. For instance, PWS management is dependent on the patient’s age and related symptoms. Following PWS diagnosis, evaluations are made to diagnose the extents of the condition. This diagnosis is further based on age. Newborns are assessed on the basis of sucking challenges. Infants are assessed on the grounds of growth development and young children are diagnosed on the basis of a vision exam. On the other hand, all male patients are evaluated for the presence or absence of cryptorchidism. For treatment or management, infants are introduced to specialize feeding techniques immediately after definite diagnosis (Driscoll Schwartz and Cassidy, 2016). Additionally, young children suffering from PWS also need immediate intervention concerning physical therapy. This therapy is aimed at developing an enhancing muscle strength enabling them to reach physical milestones. The early intervention also involves speech therapy needed to solve language issues. Cryptorchidism, on the other hand, may be left to phase out naturally but in most cases requires hormonal treatment. In instances of young children approaching obese, affected children should be scheduled for balanced diet programs, exercise sessions as well as food uptake scrutiny. In such cases, there is a need for consultation with professional dietitians (Butler, Dykens, and Gold et al. 2018). Abnormal behavioral patterns, on the other hand, may be addressed by employing special behavioral management programs. For adults with obsessive symptoms, injection of serotonin uptake inhibitors is helpful. Stature development can, on the other hand, be rectified by the uptake of growth hormone treatments in the form of growth hormones. Growth therapies employed from infancy to adulthood impacts elements such as language and cognitive abilities as well as motor capabilities.Sandyyossef (talk) 18:57, 16 November 2018 (UTC) Diagnosis and Testing: In establishing the presence or absence of PWS in patients’ health professionals have employed a concept referred to as DNA methylation testing. This technique is aimed at detecting an abnormality in parent-oriented imprinting of genes in the chromosome 15 areas that is responsible for the disease. It also further establishes whether the anomaly is maternal or paternal only (Gunay- Schwartz and Heeger, 2001). This technique is mostly applicable in infants or patients who are too young to exhibit enough signs and symptoms to make an informed diagnosis. Information regarding the PWS testing available in the Genetic Testing Registry is open to healthcare professionals. Therefore, information regarding the PWS testing can only be obtained by consulting the healthcare provider (Holm, Hanchett and Whitman et al., 1993).Sandyyossef (talk) 18:57, 16 November 2018 (UTC) Sandyyossef (talk) 18:57, 16 November 2018 (UTC) References Diagnosis and Testing: Prader–Willi syndrome (PWS) is a multi-systemic complex genetic disorder caused by lack of expression of genes in chromosome 15q11.2-q13 region that are inherited paternally (Driscoll, 2017). PWS results in disruption of functions of hypothalamus affecting sexual development, growth, body temperature, mood, sleep and response to hunger (Rodriguez, 2018). There are three genetic subtypes of PWS i.e. paternal deletion of 15q11.2-q13, maternal uniparental disomy and imprinting defect. Diagnosis of PWS is made by the physician using clinical symptoms. There should be early diagnosis in infants since hypotonia which refers to condition of muscle weakness is evident (Bar, 2017). The diagnosis is made through blood tests and the most preferred method of diagnosis is DNA methylation analysis which detects all genetic subtypes of PWS and differentiates it from Angelman syndrome (Robertson, 2005). In infants, the signs and symptoms are; Primary sign is hypotonia which is poor muscle tone that results in poor sucking reflex (Angulo, 2015). The elbows and knees are loosely extended rather than fixed. There is lethargy characterized by poor response to stimuli and fatigue, the infant also has distinct facial features that are not normal and may have underdeveloped genitals i.e. small penis and scrotum in males and small labia and clitoris in females (Driscoll, 2017). Other signs appear at early childhood and are exhibited until adulthood and these symptoms require careful management (Bar, 2017). Hyperphagia that starts at two years and continues to adulthood makes the patient overfeed leading to complications of obesity and obsessive behavior towards food. The patient has hypogonadism resulting in sexual organs underdevelopment due to production of no or little sex hormones in testes and ovaries. There is Poor growth and physical development due to underproduction of growth hormones, hypothyroidism which causes poor management of stress. There are sleep disorders, behavioral and speech problems (Angulo, 2015). Cognitive impairment that causes poor thinking and reasoning, a child with PWS also experiences delay in motor development than other normal children. Other signs may include scoliosis which is curvature of spine and also hypopigmentation causing hair, skin and eyes to become pale. These symptoms may lead to diagnosis of PWS but does not rule out Angelman Syndrome since they share same symptoms (Driscoll, 2015). Differential diagnosis is done through methylation analysis. DNA methylation analysis presents a definitive test for PWS (Robertson, 2005). Normal individuals have both methylated and unmethylated allele from both parents while individuals with PWS have only maternally methylated allele and thus DNA methylation provide efficient diagnosis of PWS and rules out Angelman syndrome which contains paternal methylated allele (Robertson, 2005). This method exploits 5′ CpG Island of the SNRPN locus diagnosing 99% of the cases (Driscoll, 2017). However, this method does not define the type of PWS and thus methylation-specific multiplex-ligation probe amplification (MS-MLPA) is used to differentiate the three subgroups. MS-MLPA will determine methylation status that lead to identification of typical deletion. High-resolution microarrays help in identifying maternal disomy or imprinting defect (Robertson, 2005).Fatema alkhafaji (talk) 02:13, 18 November 2018 (UTC)(UTC)https://www.ncbi.nlm.nih.gov/sites/books/NBK1330/.https://www.ncbi.nlm.nih.gov/pubmed/16136652.https://www.jci.org/articles/view/99725.https://ojrd.biomedcentral.com/articles/10.1186/s13023-017-0673-6.https://www.ncbi.nlm.nih.gov/pubmed/26062517. Epidemiology and Society and Culture: The Prader-Willi Syndrome (PWS) can occur and does occur in both male and female babies. It is a very rare disease, with chances of newborn’s born with the illness varying between 1 in 10,000 and 1 in 25,000 (Killeen 2004). Although it is very rare, it is still the most common form of an obesity illness there is (Scheimann 2017). There are currently over 400,000 people who have PWS and both sexes are equally likely to develop the syndrome (Scheimann 2017). According to the Prader Willi Syndrome Association, an average of 65 percent of people are not aware that they have the illness (PSWA). According to the 2010 Census, there was a total of over 308 million people living in the United States. From those people, 7,206 of them had PWS. The amount of people that had the illness in 2010 in the United States was a lot less than 1 percent. This only proves how rare it is. The United States and the United Kingdom have a larger population of people with PWS than the rest of the countries in the world (Scheimann 2017). Our Society shows us how serious Prader Willi Syndrome is but also in some ways take it not so seriously. On the positive side, there was a multi episode documentary like showing of a series in the United Kingdom in 2007. The documentary was based on a plot of two people who lived with PW syndrome. The show was titled “Can’t Stop Eating” (K12 Academics). The title of this show is deep in a way not anyone will understand. When people first here of PWS, they usually only think of the exterior physical effects of the illness. Like chunkiness, rolls, width, and obvious abnormal weight. People around them don’t usually think about how it affects them internally. Along with the exterior affect, comes an internal desire for food constantly, hence the name “Can’t Stop Eating”. The phrase emphasizes on how people with the syndrome are affected against their will. They can not control their desire for food, as if they never feel full or eat in situations where others aren’t. The negative side of society looks at these people and judges them calling them fat and disgusting, with no sympathy for the possibility that they may have an illness. So many illnesses and diseases exist that others are not familiar with. This genetic disease is extremely rare but can tremendously impact lives. What most people don’t know is that people with PWS find difficulty in everything they do more than others around them who don’t have the syndrome. They have a hard time with speech, learning, physical activity, eating habits, sleeping, socializing, and other fairly important factors. People with PWS, especially the ones attending school, may very likely need extra special attention and should be in a smaller classroom where the teacher is able to give them enough attention (NIH 2015). Most of them also need a way of keeping them away from overeating, whether they like to or not. It is not under their control and should get help (NIH 2015). The patient with PWS, along with their loved ones, are affected daily by the disorder, whether directly or indirectly. The Genetics Education Materials for School Success (GEMSS), is a program that offers help and information about how a child with PWS can be or is already helped in school. This program can help assure parents and help teachers better understand what a child with PWS may need (NIH 2015). There are three official organizations that are able to help a family with a loved one who suffers from PWS: Foundation for Prader-Willi Research, International Prader-Willi Syndrome Organisation (IPWSO), and the Prader-Willi Syndrome Association. https://www.k12academics.com/disorders-disabilities/prader%E2%80%93willi-syndrome/society-culture. https://www.uptodate.com/contents/epidemiology-and-genetics-of-prader-willi-syndrome. https://www.pwsausa.org/pws-statistics/. https://rarediseases.info.nih.gov/diseases/5575/prader-willi-syndrome. https://www.gemssforschools.org/about/default. Josephinedemian (talk) 05:37, 18 November 2018 (UTC)Josephine Demian

Hi Josephinedemian. This Talk page is meant for discussing improvements to the article. I wonder are you proposing that the above text is included in the article? It seems that you may have copied and pasted most of that material from the sources linked? Thanks. Martinevans123 (talk) 09:41, 18 November 2018 (UTC)

@Martinevans123: This class has run into some major misunderstandings when it comes to what they are supposed to be doing on Wikipedia. It's probably better than they posted this to the talk page, rather than the article space. Ian (Wiki Ed) (talk) 19:39, 19 November 2018 (UTC)

Haha, yes. I think we can all agree with that! Do you think it's a good idea to keep it all here?? Thanks. Martinevans123 (talk) 19:43, 19 November 2018 (UTC)

If it's OK, I'd prefer to leave it until the semester is done. Ian (Wiki Ed) (talk) 00:02, 20 November 2018 (UTC)

Ian (Wiki Ed), I really don't think it's a matter of your preference, or indeed mine. I wonder could you explain how this material comes to be here? Ismn't this the sort of draft work that is supposed to reside in the respective editors' sandboxes? Is there expected to be an eventual benefit to the article from all this and, if so, when? Would it be possible to hat all of this material so that it is less distracting for normal editors? Many thanks for your consideration. Martinevans123 (talk) 16:52, 20 November 2018 (UTC)

I wish I could explain how it happened. Despite having the same guidance and training modules as hundreds of other classes we've supported, this class ended up producing content that was clearly unsuitable for mainspace. It's especially unfortunate because they produced a lot of content - had their efforts been in the right direction, they could have created a lot of good content. The group working on this article seem to have decided that they should be posting here. A few individuals always go wrong, but I'm especially bothered by the fact that almost a whole class did.

As for the content - yes, of course you should feel free to hat it. I can always track it down for the instructor if they're trying to find work to grade. Once the term is done though, it's probably best to archive or delete it (which I'd be happy to do). Ian (Wiki Ed) (talk) 17:20, 20 November 2018 (UTC)

Many thanks. Sounds like a good plan. Martinevans123 (talk) 17:29, 20 November 2018 (UTC)

Work by student editors posted here by mistake
The following discussion has been closed. Please do not modify it.
Signs and Symptoms Depending on the individual signs and symptoms of Prader- Willi syndrome will vary. As humans grow these symptoms may change from childhood to adulthood. Symptoms that may occur in infants happen during birth. These symptoms include poor muscle tone, distinct facial features, poor sucking reflex, generally poor responsiveness, and underdeveloped genitals. For early childhood to adulthood these symptoms usually appear during early childhood and remain throughout life. These symptoms are food craving and weight gain, underdeveloped sex organs, poor growth and physical development, cognitive impairment, delayed motor development, speech problems, and sleep disorders. Prader- Willi syndrome in infants is caused by weak muscle tone, feeding defects, poor growth, and delayed development. This leads children who are affected to overeat. Some ways you can tell if your baby has Prader-Willi syndrome is if they have almond-shaped eyes which is due to the lack of muscle tone, their head will get narrow at the temples, their mouth might turn down at the corners, and having a thin upper lip. People with PWS don’t get full, which causes them to overeat because they never feel full. Signs of this is nonstop hunger and weight gain. Children with PWS will always want more food, they will try to hide food to eat it later, and some children will eat food that’s frozen or food out of the garbage. Children with PWS usually are short for their age, they have small hands and feet, they will have extra body fat and not enough muscle mass, they are usually slow in talking, sitting, standing or walking, they will have having learning problems, and having sleep problems. PWS develops in two stages, the first stage is between 0 and 12 months and the second stage are from age 1 to 6 years. Children between 0 and 12 months will have unusual weak cries, they will have a difficult time waking up, they will appear tired, their genitals may not develop correctly, and lastly, they will have depigmentation of the skin and sometimes their eyes. A mother can also tell if her baby will have PWS due to fetal movements in the belly as well as the abnormal fetal positions. For children at the age of 1 to 6 years will have high levels of pain and that is for phase 1. For phase 2 which is from 18 to 36 months, children’s body weight goes from lower than average to higher without food or calorie intake. In phase 3 it starts at the age of 8 years old and goes into adulthood. This age is when the intake of more food intake starts, children with PWS also undergo poor sexual development during puberty. If the child is a female with PWS may not get their menstrual cycled and adults with PWS may not be able to reproduce. Children with PWS have unusual cognitive profiles, they tend to have a strong vocabulary and they read very well. But when it comes to speaking they are usually poor in it. Children with PWS also have a hard time processing thing. These symptoms may improve as they grow to adulthood, but it’s not always guaranteed.Martinafarag (talk) 15:36, 19 November 2018 (UTC)https://www.mayoclinic.org/diseases-conditions/prader-willi-syndrome/symptoms-causes/syc-20355997. https://rarediseases.info.nih.gov/diseases/5575/prader-willi-syndrome.https://www.webmd.com/parenting/baby/prader-willi-syndrome#1.https://www.medicalnewstoday.com/articles/182287.php.https://www.medicinenet.com/prader-willi_syndrome/article.htm#how_common_is_and_what_causes_prader-willi_syndrome. Genetics: “During the early 1980s, scientists puzzled over why some people who seemed to have PWS did not have the chromosome 15 deletion, and why some people with the chromosome 15 deletion seemed to have a different condition from PWS. Dr. Merlin Butler and colleagues began unraveling the puzzle when they reported in 1983 that the chromosome 15 deletion in PWS was on the father’s chromosome” (pwsausa.org). In other words, PWS is not only just caused by deletion of chromosome 15 but can also be caused by maternal uniparental and imprinting defect (pwsausa.org). The other type of PWS is an individual person have duplicated chromosomes (ghr.nlm.nih.gov). “PWS in conjunction with Angelman syndrome (AS) represent perhaps the best examples of genomic imprinting in humans. The majority of the genes in mammals display a Mendelian pattern of expression where normal alleles inherited from each parent are equally expressed” (nature.com). Which means that the parental code or gene is being deleted from the offspring also deleting the same chromosome from the maternal side causing Angelman syndrome disease. “The exact function of each of the genes in determining the PWS phenotype remains to be elucidated, although possible insight has been gained by work with mouse models by multiple investigators” (nature.com). After all the work scientists have done, there is still not a specific reason why PWS would happen. “Furthermore, rigorous neurobehavioral studies have not been performed to determine whether these individuals have the typical PWS behavioral phenotype” (nature.com). Even though, there has been a lot of advances in understanding the genetic changes associated with the diseases of PWS; however, the symptoms and genetics region associated with that disease is not understood (fpwr.org). The PWS occurred “In a very small proportion of affected people, PWS has occurred due to a balanced translocation of chromosome 15” (rarediseases.org). PWS can also be caused by the rearrangement of chromosomes, also known as translocation (ghr.nlm.nih.gov). Furthermore, PWS genes are put into four different regions based on common deletion: a proximal non-imprinted, the PWS paternal-only expressed region, the Angelman syndrome (AS) region, and a distal non imprinted region (nature.com). Scientists also believe that there might be other chromosomes that causes PWS. Moreover, there might be some chromosome that works with chromosomes 15 to cause PWS (ghr.nlm.nih.gov). For example, a symptom for PWS is light hair color, the chromosome that is responsible for hair color is OCA2, which is part of chromosome 15 (ghr.nlm.nih.gov). Which means that if chromosome 15 is deleted, OCA2 will get affected, leading to more genetic issues. Such as the human’s phenotype (ghr.nlm.nih.gov). Maryelkommos (talk) 17:36, 19 November 2018 (UTC) www.nature.com/articles/gim0b013e31822bead0. www.fpwr.org/about-prader-willi-syndrome#hereditary. www.pwsausa.org/genetics-of-pws/. https://ghr.nlm.nih.gov/condition/prader-willi-syndrome https://ghr.nlm.nih.gov/condition/prader-willi-syndrome https://rarediseases.org/rare-diseases/prader-willi-syndrome/Maryelkommos (talk) 17:37, 19 November 2018 (UTC)

Ketogenic diets for Prader-Willi

there are many Patients with Prader-Willi practicing (modified) ketogenic-diets, who report improved quality of life, improved cognition and reduced appetite. mostly this is reported via blogs and social networks (I was explained that such links don't fit wikipedia) there exists an 1970 study, which summarizes that ketogenic diet for Prader-Willi results with decreased appetite

 - here : https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4955809/

there exists an 2017 study, which summarizes that modified ketogenic diet for Prader-Willi results with many areas of improved life quality

 - here : https://www.pws.org.nz/wp-content/uploads/2018/06/TREND-Community-Diet-Initiative-Overview.pdf

is there a way to incorporate this information in the prader-willi page ?

MulaLiron (talk) 14:37, 14 December 2018 (UTC)

praders willi

Someone in my class has it and we yeah bye :) — Preceding unsigned comment added by 47.154.8.115 (talk) 02:54, 30 May 2019 (UTC)

Life expectancy?

The wiki article about a genetically similar but functionally different syndrome, Angleman syndrome indicates that life expectancy for that condition is normal; could someone find/add that info for this condition to this article? UnderEducatedGeezer (talk) 12:46, 16 September 2019 (UTC)

Title formatting

The current title uses an en dash between Prader and Willi. The article was originally created with a hyphen, but was moved with WP:MOS as the justification. But the relevant section of the MOS states: "Generally, use a hyphen in compounded proper names of single entities", and gives the example of Wilkes-Barre, PA, which is named after two people. That's the same situation as here. (The en dash serves to show a separation between the two, as opposed to the hyphen linking them.) As such, I believe this article should be moved back to the hyphenated version, Prader-Willi syndrome. Thoughts? — tooki (talk) 01:01, 26 November 2019 (UTC)

Yes. There seem to be quite a few listed under Category:Rare syndromes which are similarly two-name origin and use a hyphen? Martinevans123 (talk) 11:08, 26 November 2019 (UTC)

Treatment

There is treatment for the condition, but the narrator in Mystery Diagnosis says there is isn't. — Preceding unsigned comment added by 2601:18D:4700:2D30:8DF5:587:8E9F:B861 (talk) 21:02, 25 December 2021 (UTC)

Life expectancy?

Reading through the article, there doesn't seem to be any mention as to whether or not P-WS has any effect on one's life expectancy.

In a local newspaper I noticed a woman with this condition died at age 34. I don't know if this is typical or not? StuZealand (talk) 11:50, 15 July 2023 (UTC)

No mention of Tarrare?

I read up that modern historians(?) believe he had this, so I came to the page to read up about it. But there's nothing about it. Not here, and not in Tarrare either. What's up with that? Could it have been fake news? I'm interested in knowing what are the cases for it, against it, other 'known' people that might've had PWS... this is a thing in other pages like this, is it not? 186.212.9.15 (talk) 21:33, 10 July 2024 (UTC)