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 with PWS can be very stressed as a result.
A Newborn Diagnosis Video released in 2017 – available for viewing here – has been produced for medical and allied health professionals to raise awareness of PWS, outlining common traits to look for when considering a diagnosis. Early diagnosis is critical, enabling therapeutic and medical plans to be put in place.
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 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. This booklet has been reprinted with permission from the USA PWS Association.
The international Medical Alerts Booklet is available in many languages and may be useful for patients’ families and carers as well.
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 International 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 problems.
PWS – Beyond a Diet (video) – Relationship of the dietitcan to other supporters of a person with Prader-Willi Syndrome (Aust).
Prader-Willi Syndrome: Beyond the Diet – Weight control and food foraging issues within holistic case management (USA).
Holistic, coordinated support with the medical profession is needed. PWS – The Medical Perspective (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 behavioral 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.
For lawyers and police
Legal issues – Some advice if a person with PWS gets into trouble.
Ethical and legal issues around choice and control – in relation to the mental capacity of people with PWS who will die prematurely if restrictive food practices are not in place.
Use this Introductory Guide for hospital emergency and admissions for PWS patients. Adapted from the Royal Prince Alfred Hospital, Sydney, it has advice about managing complex PWS behaviours, in the hospital setting. Also see the Medical Alerts Booklet.