Prader-Willi syndrome

Common Name(s)

Prader-Willi syndrome

Prader-Willi syndrome (PWS) is a genetic condition that affects a person’s appetite, growth, metabolism, development, intellect and behavior. Signs and symptoms of PWS are present shortly after birth and can include low muscle tone (hypotonia), trouble feeding, and slow growth. Children and adults with PWS do not feel full and will always feel hungry, which leads to overeating. The excessive eating, along with a slow metabolism, typically causes a person with PWS to be overweight (obese). PWS also causes specific facial features, including a narrow forehead, almond shaped eyes, and a triangular mouth. Short stature, developmental delays, trouble sleeping, and stubborn behavior are also features of PWS. Most people with PWS cannot have children (are infertile) due to incomplete sexual development (puberty).

PWS occurs when a person does not have a full copy of chromosome 15 that came from their mother and a full copy that came from their father. The most common genetic cause is a missing (deleted) piece of chromosome 15. Some cases are a result of having two chromosome 15 copies that came from the mother and none that came from the father (uniparental disomy). Most cases occur randomly and are not inherited from a parent. PWS affects both males and females.

PWS is typically suspected in babies who have trouble gaining weight and have low muscle tone or in children, teenagers, and adults who eat too much and have learning problems. The diagnosis can only be confirmed through a genetic blood test. Early diagnosis will allow for early intervention and support. To help decrease the chance for obesity, constant monitoring of a child’s food intake is needed. Locking the cabinets and refrigerator is usually necessary. If your child has been diagnosed with PWS, talk to their doctor about the most current treatment options. Support groups can connect you with other families affected by PWS.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Prader-Willi syndrome" for support, advocacy or research.

Foundation for Prader-Willi Research

The mission of FPWR is to eliminate the challenges of Prader-Willi syndrome (PWS) through the advancement of research.

Last Updated: 5 Feb 2015

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Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

Last Updated: 22 Apr 2015

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Prader-Willi Syndrome Association (USA)

Prader-Willi Syndrome Association (USA) is an organization of families and professionals working together to raise awareness, offer support, provide education and advocacy, and promote and fund research to enhance the quality of life of those affected by Prader-Willi syndrome.

Last Updated: 13 Dec 2012

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Prader-Willi Syndrome Association-Kansas

The Kansas Chapter of the Prader-Willi Syndrome Association USA is committed to assist each family in locating services, education, advocacy and literature. The Prader-Willi Syndrome Association - Kansas Chapter we’ll give you the attention and personal devotion you require every step of the way to assist in maintaining well being for your child with PWS. Prader-Willi Syndrome Association - Kansas is located in Wichita with a devoted team of parents also with children impacted by PWS. Let us put our experience to work helping you and your child.

Last Updated: 27 Apr 2013

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Prader-Willi syndrome" for support, advocacy or research.

Foundation for Prader-Willi Research

The mission of FPWR is to eliminate the challenges of Prader-Willi syndrome (PWS) through the advancement of research.

http://www.fpwr.org

Last Updated: 5 Feb 2015

View Details
Logo
Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

http://www.pediatricbrainfoundation.org

Last Updated: 22 Apr 2015

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Prader-Willi Syndrome Association (USA)

Prader-Willi Syndrome Association (USA) is an organization of families and professionals working together to raise awareness, offer support, provide education and advocacy, and promote and fund research to enhance the quality of life of those affected by Prader-Willi syndrome.

http://www.pwsausa.org

Last Updated: 13 Dec 2012

View Details
Prader-Willi Syndrome Association-Kansas

The Kansas Chapter of the Prader-Willi Syndrome Association USA is committed to assist each family in locating services, education, advocacy and literature. The Prader-Willi Syndrome Association - Kansas Chapter we’ll give you the attention and personal devotion you require every step of the way to assist in maintaining well being for your child with PWS. Prader-Willi Syndrome Association - Kansas is located in Wichita with a devoted team of parents also with children impacted by PWS. Let us put our experience to work helping you and your child.

http://www.pwsa-kansas.org

Last Updated: 27 Apr 2013

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Prader-Willi syndrome" returned 316 free, full-text research articles on human participants. First 3 results:

High levels of caregiver burden in Prader-Willi syndrome.
 

Author(s): Nathalie Kayadjanian, Lauren Schwartz, Evan Farrar, Katherine Anne Comtois, Theresa V Strong

Journal:

 

Prader-Willi syndrome (PWS) is a rare genetic neurodevelopmental disorder that is characterized by hyperphagia, developmental delay, incomplete sexual development, mild-to-moderate intellectual disability, and a variety of challenging behavioral and psychiatric symptoms. The characteristics ...

Last Updated: 31 Dec 1969

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Silent aspiration in infants with Prader-Willi syndrome identified by videofluoroscopic swallow study.
 

Author(s): Parisa Salehi, Holly J Stafford, Robin P Glass, Anne Leavitt, Anita E Beck, Amber McAfee, Lusine Ambartsumyan, Maida Chen

Journal: Medicine (Baltimore). 2017 Dec;96(50):e9256.

 

Feeding intolerance in Prader-Willi syndrome (PWS) infants is well-recognized, but their swallow physiology is not well understood. Swallow dysfunction increases risks of respiratory compromise and choking, which have a high incidence in PWS. To investigate swallow pathology in PWS ...

Last Updated: 31 Dec 1969

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AZP-531, an unacylated ghrelin analog, improves food-related behavior in patients with Prader-Willi syndrome: A randomized placebo-controlled trial.
 

Author(s): Soraya Allas, Assumpta Caixàs, Christine Poitou, Muriel Coupaye, Denise Thuilleaux, Françoise Lorenzini, Gwenaëlle Diene, Antonino Crinò, Frédéric Illouz, Graziano Grugni, Diane Potvin, Sarah Bocchini, Thomas Delale, Thierry Abribat, Maithé Tauber

Journal:

 

Prader-Willi syndrome (PWS) is characterized by early-onset hyperphagia and increased circulating levels of the orexigenic Acylated Ghrelin (AG) hormone with a relative deficit of Unacylated Ghrelin (UAG). AZP-531, a first-in-class UAG analog, was shown to inhibit the orexigenic effect ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Prader-Willi syndrome" returned 18 free, full-text review articles on human participants. First 3 results:

Congenital hypothyroidism due to ectopic sublingual thyroid gland in Prader-Willi Syndrome: a case report.
 

Author(s): Sarah Bocchini, Danilo Fintini, Graziano Grugni, Arianna Boiani, Alessio Convertino, Antonino Crinò

Journal:

 

Thyroid gland disorders are variably associated with Prader-Willi syndrome (PWS). Many of the clinical features in newborns with PWS are similar to those found in congenital hypothyroidism (CH).

Last Updated: 31 Dec 1969

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Cellular and disease functions of the Prader-Willi Syndrome gene .
 

Author(s): Klementina Fon Tacer, Patrick Ryan Potts

Journal:

 

Melanoma antigen L2 (MAGEL2 or MAGE-L2) is a member of the MAGE family of ubiquitin ligase regulators. It is maternally imprinted and often paternally deleted or mutated in the related neurodevelopmental syndromes, Prader-Willi Syndrome (PWS) and Schaaf-Yang Syndrome (SHFYNG). MAGEL2 ...

Last Updated: 31 Dec 1969

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Benefits and limitations of prenatal screening for Prader-Willi syndrome.
 

Author(s): Merlin G Butler

Journal: Prenat. Diagn.. 2017 Jan;37(1):81-94.

 

This review summarizes the status of genetic laboratory testing in Prader-Willi syndrome (PWS) with different genetic subtypes, most often a paternally derived 15q11-q13 deletion and discusses benefits and limitations related to prenatal screening. Medical literature was searched ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

A Study of Diazoxide Choline in Patients With Prader-Willi Syndrome
 

Status: Recruiting

Condition Summary: Prader-Willi Syndrome

 

Last Updated: 31 Jul 2018

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Oxytocin Intranasal Administrations in Children With Prader-Willi Syndrome Aged From 3 to 12 Years
 

Status: Recruiting

Condition Summary: Prader-Willi Syndrome

 

Last Updated: 2 May 2017

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A Study of GLWL-01 in Patients With Prader-Willi Syndrome
 

Status: Recruiting

Condition Summary: Prader-Willi Syndrome

 

Last Updated: 15 Aug 2018

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