The proportion of affected individuals who represent simplex cases (i.e., a single occurrence of the disorder in a family) varies by the severity of disease. Hearing evaluation at three- to five-year intervals from age five years until hearing loss is identified, then as indicated based on the nature and degree of hearing loss and associated interventions.Īgents/circumstances to be avoided: Contact sports should be avoided.ĬOL1A1/2-OI is inherited in an autosomal dominant manner.
Twice-yearly dental visits beginning in early childhood or even infancy for those with (or at risk for) DI.
Cervical spine flexion and extension radiographs in children able to cooperate with the examination or before participating in sporting activities in more mildly affected individuals. CT and/or MRI examination with views across the base of the skull to evaluate for basilar impression if concerning signs or symptoms are present. Physical therapy evaluation in infancy for those with motor delays and as needed to improve mobility and function. Surveillance: Orthopedic evaluation with ancillary therapy services (physical and rehabilitation medicine) as indicated every three months until age one year, every six months from ages one to three years, and then annually or with any new fractures. Prevention of secondary complications: During general anesthesia, proper positioning on the operating room table and use of cushioning such as egg crate foam can help avoid fractures. Mental health support through psychiatry/psychology and appropriate social worker intervention can improve quality of life. Conductive hearing loss may be improved with middle ear surgery later-onset sensorineural hearing loss is treated in the same manner as when caused by other conditions. Dental care strives to maintain both primary and permanent dentition, a functional bite or occlusion, optimal gingival health, and overall appearance. Surgical treatment for basilar impression should be done in a center experienced in the necessary procedures. Bisphosphonates continue to be used most extensively in severely affected children with OI. Progressive scoliosis in severe OI may not respond well to conservative or surgical management. Fractures are treated with: as short a period of immobility as is practical small and lightweight casts physical therapy as soon as casts are removed and intramedullary rodding when indicated to provide anatomic positioning of limbs. Mainstays of treatment include: bracing of limbs depending on OI severity orthotics to stabilize lax joints physical activity physical and occupational therapy to maximize bone stability, improve mobility, prevent contractures, prevent head and spine deformity, and improve muscle strengthening mobility devices as needed and pain management.
Parents / other caregivers must practice safe handling techniques. Treatment of manifestations: Ideally, management is by a multidisciplinary team including specialists in medical management of OI, clinical genetics, orthopedics, rehabilitation medicine, pediatric dentistry, otology/otolaryngology, and mental health.