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Am J Med Genet A. 2003 Oct 15;122A(3):201-14.

Personality and stereotype in osteogenesis imperfecta: behavioral phenotype or response to life's hard challenges?

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Department of Anthropology, History, and Social Medicine, Medical Anthropology Program, University of California-San Francisco, 3333 California Street, Suite 485, San Francisco, CA 94143-0850, USA.


Fifty-five adults with osteogenesis imperfecta [OI] types III and IV were interviewed to chronicle their medical, personal, and social experiences in living with OI. Subjects were recruited through the Osteogenesis Imperfecta Foundation, through physician referrals, and through other persons with OI. One purpose of the research was to examine the stereotypes of high intelligence and euphoric personality often attributed to persons with OI, and to explore whether these characteristics might constitute a behavioral phenotype. Participants were observed by the researcher to be characteristically bright, talkative, articulate, "up" emotionally, and accomplished. In fact, most of the persons illustrated well the characteristics of the stereotype. Participants suggested and described life experiences and difficult medical and social challenges which they felt could contribute to the development of the attributed characteristics. The history of the "euphoric" attribution is traced. Many participants expressed derision concerning this attribution. The commonly understood meaning of this term trivializes the years of painful medical procedures, suffering, and related hardships experienced by subjects in their lives. I suggest that the concept of "resilience" offers a more appropriate context for related future research with this population. The consideration of the exceptional challenges faced by persons with OI and others with such demanding medical conditions throughout their life cycles would add a significant environmental dimension to the study of behavioral phenotypes.

[Indexed for MEDLINE]

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