Information for doctors treating patients with Prader-Willi syndrome (PWS)

Jan 17, 2024


PWS requires a multidiscipliany approach. Your patient living with PWS will present challenges in communication, diagnosis and treatment.

Prader-Willi Syndrome (PWS) is a complex, multi-system disorder that changes in presentation over a person’s life. A person will need holistic health care and disability support throughout their life. Treatments and services must be coordinated. People with PWS suffer from cognitive disabilities and high anxiety. If they get mixed messages that, despite appearances, they will find difficult to comprehend, it is likely to escalate into disruptive behaviour. You may not see this during a short consultation in your rooms, but the consequences of mis-communication will be felt by the patient and their carers for a long time to come. PWS is not like other intellectual disabilities. Parents and carers of a person living with PWS can be very stressed as a result.

Apart from their medical issues, it is important for clinicians and allied health professionals to understand some of the behavioural anomalies that can impact on a consultation, a stay in hospital or treatment compliance. The following information is from experts around the world.

People with PWS do not necessarily react to illnesses, pain or medications like everyone else. Doctors need to be aware of atypical presentations in acute and chronic aspects of PWS health. View the Australian Medical Alerts Booklet for important considerations for routine or emergency treatment.

The international Medical Alerts Booklet is available in many languages and may be useful for patients’ families and carers as well.

Experts have reached consensus on many behavioural facets of PWS, such as temper outbursts, high anxiety, rigidity, obsessions and social cognition deficits. Details are in the paper ‘Behavioral features in Prader-Willi syndrome (PWS): consensus paper from the International PWS Clinical Trial Consortium’

Prader-Willi Syndrome – A Primer for Clinicians in the US National Library of Medicine is a very comprehensive starting reference. It’s from the International Journal of Pediatric Endocrinology, 2011.

Another detailed reference is Prader-Will Syndrome from Gene Reviews, 2016.

The USA Prader-Willi Syndrome Association has provided a medical overview, ‘A Diagnosis and Reference Guide for Physicians and Other Health Professionals‘ for treatment of individuals with Prader-Willi Syndrome

The Pittsburgh Partnership has a variety of fact sheets about food security, weight regulation, edema, skin picking, and more.

The PWS awareness for meeting with professionals brochure provides good insight into how to conduct a discussion with a person who has PWS and is prone to a lack of insight, wishful thinking and confabulation (lying).

How does a person with PWS think, from PWSA USA provides insight into why people with PWS get themselves into such difficulties. Sensory integration dysfunction, a neurological disorder characterized by a neurological sensory integration deficit, is just one of their many challenges.

For GPs

Holistic, coordinated support with the medical profession is needed. Doctors need to adjust their practice with a PWS patient.  PWS – The Medical Perspective video (Aust.)

Prader-Willi syndrome: Care of adults in general practice

Prader-Willi Syndrome Good Health for Adults checklist, including hormones, dental, orthopedic and more.

For psychiatrists and psychologists

Some temperamental and behavioral characteristics are so commonly present that they are considered to be part of the PWS behavioural phenotype. A psychiatric diagnosis may also apply. A PWS Primer for Psychiatrists has been written by the Pittsburgh Partnership, specialists in PWS behaviour and food security.


Get in touch

We welcome enquiries about anything related to PWS. This could be about the changes through the life stage of living with PWS, individual needs, services, getting help or interacting with the NDIS, the Quality and Safeguards Commission or the AAT.

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