A clinical and audiological investigation of osteogenesis imperfecta

Stewart, Eleanor J.; O’Reilly, Brian F.

doi:10.1111/j.1365-2273.1989.tb00414.x

Cited by 39 publications

(62 citation statements)

References 15 publications

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“…On the other hand, this so-called characteristic high-frequency sensorineural loss was observed only sporadically in other OI populations 5,10,12 , as well as in ours, yielding a 1.4% prevalence of this isolated high-frequency pure sensorineural loss. More often, we observed a pure sensorineural loss involving the lower frequencies as well, affecting OI patients from all age categories, which is concordant with the findings of other large population studies [5][6][7]10 . Compared with the above-described conductive/mixed hearing loss, this pure sensorineural loss in OI seems to be characterized by a slower progression with less severely affected thresholds.…”

Section: Discussionsupporting

confidence: 80%

Audiologic Phenotype of Osteogenesis Imperfecta

Swinnen¹,

Dhooge²,

Coucke³

et al. 2012

Otology &Amp; Neurotology

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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.

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Section: Discussionsupporting

confidence: 80%

Audiologic Phenotype of Osteogenesis Imperfecta

Swinnen¹,

Dhooge²,

Coucke³

et al. 2012

Otology &Amp; Neurotology

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“…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]. Hearing loss in OI typically begins in early adulthood.…”

Section: Introductionmentioning

confidence: 95%

“…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].…”

Section: Introductionmentioning

confidence: 98%

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

et al. 2004

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Osteogenesis imperfecta (OI) is caused by mutations in COL1A1 and COL1A2 that code for the alpha1 and alpha2 chains of type I collagen. Phenotypes correlate with the mutation types in that COL1A1 null mutations lead to OI type I, and structural mutations in alpha1(I) or alpha2(I) lead to more severe OI types (II-IV). However, correlative analysis between mutation types and OI associated hearing loss has not been previously performed. A total of 54 Finnish OI patients with previously diagnosed hearing loss or age 35 or more years were analyzed here for mutations in COL1A1 or COL1A2. Altogether 49 mutations were identified, of which 41 were novel. The 49 mutations represented the molecular genetic background of 41.1% of the Finnish OI population. A total of 38 mutations were in COL1A1 and 11 were in COL1A2. Of these, 16 were glycine substitutions and 16 were splicing mutations in alpha1(I) or alpha2(I). In addition, 17 null allele mutations were detected in COL1A1. A total of 32 patients (65.3%) with a mutation had hearing loss. That is slightly more than in our previous population study on Finnish adults with OI (57.9%). The association between the mutation types and OI type was statistically evident. Patients with COL1A1 mutations more frequently had blue scleras than those with COL1A2 mutations. In addition, patients with COL1A2 mutations tended to be shorter than those with COL1A1 mutations. However, no correlation was found between the mutated gene or mutation type and hearing pattern. These results suggest that the basis of hearing loss in OI is complex, and it is a result of multifactorial, still unknown genetic effects.

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“…Pure SNHL in OI is rare (10%) [Pedersen, 1985]. The hearing loss usually begins in the late teens, with the sensorineural component appearing in the third decade [Stewart and O'Reilly, 1989]. It gradually leads to profound deafness, tinnitus, and vertigo by the end of the forth to fifth decade [Pedersen, 1985].…”

Section: Introductionmentioning

confidence: 99%

Cochlear Implantation in 3 Patients with Osteogenesis Imperfecta: Imaging, Surgery and Programming Issues

Rotteveel

Beynon²,

Mens³

et al. 2007

Audiol Neurotol

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Osteogenesis imperfecta (OI) is a heterogeneous disease of the connective tissue caused by a defective gene that is responsible for the production of collagen type I, leading to defective bone matrix and connective tissue. Hearing loss affects 35–60% of the patients and will progress to deafness in 2–11% of OI patients for whom cochlear implantation may become the only remaining treatment option. Three patients with OI were retrieved from the Nijmegen Cochlear Implant Centre’s database. Most of the specific observations in ear surgery on patients with OI, such as brittle scutum, sclerotic thickening of the cochlea, hyperplastic mucosa in the middle ear and persistent bleeding, were encountered in these 3 patients. In case 3, with severe deformities on the CT scan, misplacement of the electrode array into the horizontal semicircular canal occurred. In all 3 cases, programming was hindered by nonauditory stimulation. Even after reimplantation, nonauditory sensations lead to case 3 becoming a nonuser. Averaged electrode voltages in case 3 were deviant in accordance with an abnormally conductive otic capsule. Spatial spread of neural excitation responses in cases 1 and 2 suggested intracochlear channel interaction for several electrodes, often in combination with facial nerve stimulation (FNS). In case 1, the estimated pitch of the electrodes that caused FNS varied consistently. Despite the electrophysiological changes, after 1-year follow-up, open set phoneme scores of 81% and 78% were reached in cases 1 and 2, respectively. When aware and prepared for the specific changes of the temporal bone in OI, cochlear implantation can be a safe and feasible procedure. Preoperative imaging is recommended to be fully informed on the morphology of the petrosal bone. In case of severe deformities on the CT scan, during counseling the possibility of misplacement should be mentioned. Rehabilitation is often hindered by FNS requiring frequent refitting.

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A clinical and audiological investigation of osteogenesis imperfecta

Cited by 39 publications

References 15 publications

Audiologic Phenotype of Osteogenesis Imperfecta

Audiologic Phenotype of Osteogenesis Imperfecta

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

Cochlear Implantation in 3 Patients with Osteogenesis Imperfecta: Imaging, Surgery and Programming Issues

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