Osteogenesis Imperfecta: Primary Care

• OI is an uncommon genetic disorder that requires longitudinal care coordinated by pediatricians in a well-organized medical home. From the first moments in a child's life, pediatricians may be called on to differentiate OI from nonaccidental trauma and other conditions that lead to multiple fractures in infants. • Based on some research experience, health supervision visits for children who have OI should include evaluation for pain, sleep, functional outcomes (academic and social success), referrals to other multidisciplinary team members, strategies for life-long physical activity, early identification of hearing loss, and smooth transition to practitioners experienced in managing adults who have OI. • Based on some research evidence, patients born with OI should have their first audiogram by age 10 years and every 3 years thereafter. (7) • Based on one study and anecdotal evidence, it is important for parents and families of children born with OI to identify a pediatrician who offers time, listens to parents' experiences and needs, tries to understand, and shows empathy. (6).