Audiologic Phenotype of Osteogenesis Imperfecta

Abstract

Objectives: To describe the audiologic phenotype in osteogenesis imperfecta (OI).Study design: Observational study. Setting: Tertiary referral center.Patients: One hundred eighty-two patients with genetically confirmed OI, aged 3 to 89 years.Intervention: Diagnostic hearing evaluation through otoadmittance and acoustic stapedius reflex measurements, pure tone, and speech audiometry.Main outcome measure(s): Prevalence, type, severity, symmetry, and audiometric configuration of the hearing loss in OI. Progression of hearing thresholds was determined by constructing age-related typical audiograms.Results: Approximately 52.2% of all OI patients demonstrated hearing loss unilaterally (7.7%) or bilaterally (44.5%). Pure conductive, mixed and pure sensorineural hearing losses were observed in 8.5%, 37.8% and 11.6% of OI ears, respectively. Multiple linear regression revealed that thresholds progressed by 0.5 dB/year at 0.25 kHz to 0.8 dB/year at 0.8 kHz in the ears with conductive or mixed hearing loss. Pure sensorineural hearing loss progressed by less than 0.1 dB/year at 0.25 kHz to 1.2 dB/year at 8.0 kHz. Audiometric configuration was predominantly flat (70.5%) in the ears with conductive/mixed loss, and sloping (50.0%) in those with pure sensorineural loss. Conclusions:Patients with OI are at risk for hearing loss. The hearing loss in OI may initiate at a young age and is progressive. However, the rate of progression, as well as the hearing loss severity, onset and configuration depend on the type of hearing loss, which may be conductive/mixed or pure sensorineural. For both types, age-related threshold audiograms are constructed and may help the clinician to estimate the course of the hearing loss in patients with OI. In addition, they may be valuable to distinguish between hearing loss associated with OI and other similar forms of hearing loss, such as in otosclerosis.

Hearing Loss in Osteogenesis Imperfecta

“…27 Increased prevalence of otitis media is also commonly reported in other syndromes which are characterized by morphological abnormalities of the temporal bone. 7,32 Mixed hearing loss is seen commonly in older patients with OI and may be present in as many as 55% of patients over the age of 20 years. 27 Some reporters feel that there is and include the statistics of middle ear fluid in their reported incidence shown.…”

Hearing loss in individuals with osteogenesis imperfecta in North America: Results from a multicenter study

“…To date, most studies that have systematically analyzed HL in OI have been limited by small number of participants. Additionally, even studies with large number of participants such as the one conducted by Swinnen et al ( N = 182) had very few individuals with severe OI, that is, OI Type III (Swinnen et al, ).…”

Tinnitus, anxiety and automatic processing of affective information: an explorative study

“…This scale is composed of 25 questions and the scores can vary between 0 and 100. The THI specifies different ranges of an index score, namely light (0-16), mild (18)(19)(20)(21)(22)(23)(24)(25)(26)(27)(28)(29)(30)(31)(32)(33)(34)(35)(36), moderate (38)(39)(40)(41)(42)(43)(44)(45)(46)(47)(48)(49)(50)(51)(52)(53)(54)(55)(56), severe (58-76) and catastrophic (78-100) handicap. Cronbach's alpha was .92 indicating very good internal consistency, comparable to the original version of the THI [22].…”

“…Since this method fails to account for hearing loss at higher frequencies, a second PTA across the frequencies 4.0, 6.0, and 8.0 kHz was calculated. Normal hearing was defined as PTA (0.5-1.0-2.0) < 15dB HL (Hearing Level) and for higher frequencies as PTA (4.0-6.0-8.0) < 30dB HL [25].…”