Table 2: A diagnostic and treatment journey.

Diagnostic and treatment


What is required



What IPWSO can offer

Recognising and acknowledging there is a problem.

Health professional skilled in assessment.


Access to information to guide differential diagnosis.

Cultural attitudes inhibiting acceptance of possible disability.


Access to knowledge and expertise.

Improved understanding of disability and the causes.


Trained community-based health professionals.


Remote access to information and genetic expertise

Access to help line for parents and professionals when PWS suspected (when no national PWSA).

Receiving a diagnosis.

Awareness of genetic tests.


Access to and availability of genetic tests.


Availability of genetic expertise to interpret findings (remote).

No or limited access to health expertise.


Genetic test for PWS and other rare disorders not available.


No or limited access to genetic laboratory and expertise.

Nurse screening.


On-line database of rare disorders.


Accessible genetic diagnostic program for rare disorders.


Access to genetic center (remote).

Information on PWS on-line and as printed material (translated into other languages).


Free access to genetic testing.


Access to help line (when no National PWSA).

Access to information.

Parents to gain knowledge of PWS and of support and treatment requirements.


Professionals to have access to knowledge and best practice guidance.

Information not available in the necessary language.


No access to the internet.


Limited literacy.

Access to translated material (on-line or printed).


Information accessible on different devices (e.g. mobile phones).


Local network of parents and others with knowledge (such as a National PWS Association).

Provision of material.


Local workshops for families and professionals (face-to-face or remote).


IPWSO ECHO programs for parents, health professionals and care providers.


International conferences for parents, professionals and care providers every three years (travel scholarships available).

Access to treatments and services.

Health expertise available to advise on and initiate treatments.


Access to treatments and services.


Treatments and services are affordable.


Treatments and services adapted to family and environmental circumstances.

Limited access to health professionals.


Health professionals reluctant to treat, PWS has considered outside their expertise.


Treatments and services not approved by authorities or not available.


Lack of other expertise and services (e.g. physiotherapy, dietician, social care).

No universal health coverage.

National rare diseases plan committing to making expertise, treatments and services available for rare disorders.


Centre of expertise in the country to support health professionals in other areas of the country (remote and face-to-face mentoring).

Provision of best practice guidance.


Support to campaigns seeking approval of treatments and services approved elsewhere in the world.


ECHO programme (see above).