Psychiatric Resilience among Individuals with Prader-Willi Syndrome and Presumed Maternal Uniparental Disomy Warranting Further Genetic Testing

Linda M. Gourash, Janice L. Forster

Pittsburgh Partnership: Specialists in Prader-Willi Syndrome, Pittsburgh, PA

Individuals with Prader-Willi syndrome (PWS) who have presumed maternal uniparental disomy (UPD) have been reported to be at increased risk for bipolar affective disorder or cyclic psychosis. This association has been linked to advancing age (Holland, 2004).  We present two middle aged adults with PWS, both carrying the presumed diagnosis of maternal UPD condition and have never experienced psychiatric symptoms apart from those expected for their overall phenotype: Personality Change Secondary to a Medical Condition (PWS).  

Despite normal FISH studies performed in 1996 and an abnormal PWS methylation test in 2003, a 46-year-old man presumed to have UPD (or an imprinting defect) underwent genetic retesting with newer FISH studies in 2003. This revealed an apparent atypical small 15q deletion and not UPD.

We present these two case summaries and discuss apparent resilience despite their vulnerabilities which raises questions about establishing the correct genetic subtype diagnosis and retesting older patients. Several mechanisms for resilience are discussed including 1) stress hypothesis; 2) coping hypothesis; and 3) protective factor hypothesis.