Osteogenesis Imperfecta: Psychological Function

Osteogenesis imperfecta (OI) is a heritable disorder of connective tissue that is characterized by multiple fractures, severe deformities, and disturbances of growth that frequently result in dwarfism. A study of 12 children with OI found them to be unusually well adjusted and of at least normal intelligence. The authors hypothesize that the generalized metabolic energy disturbance associated with the disease, perhaps specifically an alteration in cyclic AMP metabolism, might affect the patient's psychological functioning, or affective "tone," in a beneficial and/or protective manner.