Abstract
Osteogenesis imperfecta (OI), a dominant genetic disorder, was examined in an exploratory case study of psychosocial implications. The cross-sectional survey sample consisted of 13 OI-affected adults and 21 families with an OI-affected child who were interviewed. Findings revealed numerous psychosocial concerns and problems in addition to their complex and lifelong medical problems. Specific problem areas differed according to the severity of the disease, type, and mode of genetic inheritance. The results indicate the need for local as well as national policy changes through legislation and extensions of existing services for low-incidence disease groups such as OI-affected persons. Implications for social work practice interventions call for greater involvement with genetic diseases, more aggressive approaches in case identification and service coordination, and performing longer-range monitoring functions than is usually the case.
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