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A s part of a population based study of Prader-Willi syndrome (PWS), we have examined more closely the relationship between clinical and genetic diagnoses in a large number of people with established or suspected PWS. We report here on agreements and disagreements between clinical and genetic diagnoses. We consider whether a genetic diagnosis implies the presence of any one (or more) of the major, minor, or supportive diagnostic criteria, and also whether the presence of any one (or more) particular diagnostic criteria1 implies a positive genetic finding, and what minimal genetic findings correspond to a positive finding on the basis of the clinical diagnostic criteria. In this paper, we also report on four specific cases that illustrate diagnostic difficulties. An early diagnosis of PWS is of particular importance as the propensity to overeat can start as early as 2 years of age, and parental control of access to food can prevent the development of life threatening obesity. As part of this study, we have found high rates of physical morbidity and mortality that are likely to be preventable if weight is adequately controlled.2,3
Initially, as reported by Prader et al,4 PWS was conceptualised as a syndrome of obesity, short stature, cryptorchidism, and mental retardation following severe hypotonia in the neonatal period (decreased activity in utero, “floppy” at birth, marked feeding difficulties). With increasing clinical experience and research studies, behavioural characteristics such as hyperphagia, outbursts of temper, obsessional traits, and stubbornness, and clinical features such as central adiposity, sleep disorders, abnormalities of temperature and pain perception were added, culminating in the Consensus Diagnostic Criteria.1 A weighted score of 8 or more for ages >3 (5 or more for ages <4), based on the presence of eight major (score 1) and 11 minor (score 0.5) symptoms, …
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