Monday, March 20, 2017

A Population-Based Profile of Prader-Willi Syndrome in Ireland

On March 9th the Irish Minister for Health, Simon Harris, launched a detailed report based on research commissioned by the Prader-Willi Syndrome Association Ireland (PWSAI).  The primary aim of the research was to map the support needs of families with a person with PWS throughout the life stages and to make recommendations regarding support provision.

PWS in Ireland
The Republic of Ireland has a population of 4.7 million including about 100 people who have been diagnosed with PWS.    Most of these are known to the PWSAI and 61 families in which there is a person with PWS participated in this research.

Two PWS-specific multidisciplinary clinics led by paediatric endocrinologists operate in Ireland and Growth Hormone Therapy, which was first licensed for use for people with PWS in Ireland in 2001, is now widely available.

The first and only PWS-specific group home in Ireland was opened in 2003.   

PWSAI was established in the 1980s as a support group for people with PWS and their families.  In 2002 it became a limited company and gained charity status.  PWSAI has no paid staff and is run entirely by family members of people with PWS.

The Findings
The research showed both positive and negatives.   One positive is that the age of diagnosis has been steadily decreasing in recent years with children born between 2012 and 2016 receiving their diagnosis within 4 weeks on average compared to 19 weeks for those born between 1999 and 2003.  The research also showed a significant decrease in the age at which children with PWS commence using Growth Hormone Therapy.  Children aged from 0-4 who were reported on in the study commenced using growth hormone at 1.7 years on average compared to 3.6 years for children aged 5-12 years.

The statistics in relation to the education and employment of people with PWS were less encouraging.  They showed that the majority of adults with PWS in Ireland have left school without any educational qualifications and that only one adult with PWS reported on in the study is currently in paid employment.

The report highlighted gaps in services too.  16 respondents reported that their family member with PWS would require full time residential care within 5 years.  A majority of respondents across all age groups also indicated that they required respite, but in most cases this was not available.  Among families with adults with PWS living at home only 25% reported receiving any respite.

As well as showing the many medical, psychiatric and behavioural challenges faced by people with PWS, the research also highlighted that PWS takes a heavy financial, physical and emotional toll on families and has a negative impact on siblings and family relationships.  The gendered distribution of care was also highlighted by the research - 50 of the 61 survey respondents were mothers of people with PWS, 3 were siblings and 8 were fathers.

Two professors from Trinity College Dublin (a psychiatrist and an endocrinologist)  generously gave of their time and expertise to oversee this research.  As part of the survey design they included questions and scales that had been developed around the world.

PWSAI  was fortunate to have received funding for the research from the Galway Cycle and relied on its own members and supporters for most of the work associated with promoting and instigating the project. 

While it is too soon to say if this research will lead to improved services for people with PWS in Ireland, the media coverage generated as a result of the research has already succeeded in shining a spotlight on the lives of people with PWS and their families.

If you are interested in reading the full research report you can access it here.   PWSAI is active on Facebook and Twitter and any queries about the research can be sent to info@pwsai.ie

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