Genetic research has offered, and continues to offer, a medical explanation of chromosomal disorders such as Down Syndrome and Asberger Syndrome and more recently the rare chromosomal disorder Prader Willi Syndrome. This research gives a pathogenic explanation of disorders which includes historical background, genetic defects and clinical features. This study set out to offer an insight into the effects of PWS on the child and his/her family. It also aimed to highlight what support systems are in place in the Co. Louth area of Ireland for individuals with PWS. Unfortunately, PWS is not curable at this time. Between 1995-2003 there were 39 diagnosed cases of PWS in Ireland, an average of 4.3 per year. On average there are four infants or children diagnosed in Ireland with PWS per year (Turner, 2004, National Centre for Medical Genetics). This study is an exploratory and descriptive case study. This case study drew on multiple sources of evidence to construct a valid and unique illustration of PWS. The primary source of data was derived from in-depth interviews with the parents of a 3-year-old girl who has PWS. She was diagnosed during the third week of life. The evidence of this study suggests that non-specialist medical staff are not generally familiar with PWS. Training in relation to diagnostic criteria for chromosomal disorders would be extremely beneficial to them and to familes that are affected by the syndrome. This study highlights the need for parents to be their own child's advocate in obtaining desired support services for their area. Support services in the North East region have been greatly increased due to the setting up of the North Eastern Health Board (now known as Health Service Executive, North East Region) Early Intervention Services (EIS) in 2000.

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Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License
This work is licensed under a Creative Commons Attribution-NonCommercial-Share Alike 4.0 International License.