How common is hearing impairment in osteogenesis imperfecta?

Abstract

Hearing impairment has long been recognized as a common feature in osteogenesis imperfecta. The figures in some publications could be taken to imply that, with increasing age, the proportion of osteogenesis imperfecta patients with hearing impairment approaches 100 per cent. The incidence of hearing loss in a large survey of 1394 patients with osteogenesis imperfecta was examined. It was found that the most common age of onset was in the second, third and fourth decades of life. At the age of 50 approximately 50 per cent of the patients had symptoms of hearing impairment; over the next 20 years there was little further increase. Differences were shown between patients with different clinical types of osteogenesis imperfecta as delineated in the Sillence classification; hearing loss was significantly less common in the type IV disease than in the type I disorder. Among the 29 families with osteogenesis imperfecta type IA there were distinct differences in the likelihood of hearing loss. These findings provide insights which will be valuable in giving patients advice on the likelihood of developing hearing loss in the future.

Lack of correlation between the type ofCOL1A1orCOL1A2mutation and hearing loss in osteogenesis imperfecta patients

“…Up to 59% of adult OI patients have been reported to have progressive hearing loss in different populations [Seedorff, 1949;Smårs, 1961;Pedersen, 1984;Stewart and O'Reilly, 1989;Paterson et al, 2001;Kuurila et al, 2002]. In the present study, hearing loss was found in 32 patients (65.3%).…”

“…However, some patients present at onset with a predominantly sensorineural pattern [Pedersen, 1984;Garretsen et al, 1997;Kuurila et al, 2000Kuurila et al, , 2002. Hearing loss has been suggested to be more frequent in OI type I than in OI type IV [Sillence, 1981[Sillence, , 1988Paterson et al, 2001]. In our previous study, however, no correlation was found between the OI types and the presence, type, or severity of hearing loss [Kuurila et al, 2002].…”

“…Results from a study by Sykes et al [1990] suggested that hearing loss was more common in OI patients with COL1A1 mutations than in the patients with mutations in COL1A2. Furthermore, hearing loss has been suggested to be more common in OI type I than in OI type IV [Sillence, 1981[Sillence, , 1988Paterson et al, 2001]. Even though there is little correlation between structural mutations in type I collagen and the OI phenotype, mutations that result in the reduction of the amount of type I collagen produce OI type I with very little phenotypic variation [Byers et al, 1991;Byers and Cole, 2002].…”

“…Population studies have revealed progressive hearing loss in up to 59% of adult OI patients [Seedorff, 1949;Smårs, 1961;Pedersen, 1984;Stewart and O'Reilly, 1989;Paterson et al, 2001;Kuurila et al, 2002]. Hearing loss in OI clinically resembles otosclerosis, but differs by earlier onset, more severe middle ear involvement, and a higher incidence of a sensorineural component [Shea et al, 1963;Shapiro et al, 1982;Stewart and O'Reilly, 1989;Garretsen et al, 1997;Kuurila et al, 2002].…”

Recent Advances in Osteogenesis Imperfecta

“…About one-third of such patients are affected by the age of 30 and one-half by the age of 50, although the proportion affected does not change much after that age. Hearing impairment shows distinct familial trends, being common in some families and infrequent in others [32]. Cardiac valve dysfunction (aortic or mitral regurgitation) is a recognized but uncommon feature seen in people with OI, but the mechanistic relationship between the two remains unclear.…”