Audiological Findings in Osteogenesis Imperfecta

Pillion, Joseph P.; Shapiro, Jay R.

doi:10.3766/jaaa.19.8.3

Cited by 49 publications

(85 citation statements)

References 38 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 .…”

Section: Discussionmentioning

confidence: 93%

“…[5][6][7][8][9][10]12 Stapes footplate fixation is the most common cause for the OI-related conductive hearing loss and may be solved by stapes surgery.…”

Section: Discussionmentioning

confidence: 99%

“…It may be attributed to an otosclerosis-like focus of abnormal bone remodeling affecting the oval window region and causing stapes footplate fixation. In comparison with otosclerosis, the hearing loss in OI is characterized by an earlier onset and more often progresses to a mixed hearing loss in which the pericochlear involvement is more severe and extensive [5][6][7][8][9][10][11][12] . Stapes surgery has been proven to be an efficient technique to reduce the conductive component of the hearing loss in OI [13][14][15][16][17] .…”

Section: Introductionmentioning

confidence: 99%

“…The disease is inherited in an autosomal dominant manner, but, recently, identification of mutations in other, autosomal recessive, genes has resulted in addition of Types V to XI [2][3][4] . These novel types count for only 5% of all OI patients and have not been associated with hearing loss up to now 2 , while about half of the OI patients with mutations in COL1A1 and COL1A2 are hearing impaired [5][6][7][8][9][10][11][12] . In adolescence or young adulthood, most often, a conductive hearing loss develops.…”

Section: Introductionmentioning

confidence: 99%

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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: Discussionmentioning

confidence: 93%

“…[5][6][7][8][9][10]12 Stapes footplate fixation is the most common cause for the OI-related conductive hearing loss and may be solved by stapes surgery.…”

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Audiologic Phenotype of Osteogenesis Imperfecta

Swinnen¹,

Dhooge²,

Coucke³

et al. 2012

Otology &Amp; Neurotology

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“…Hearing loss, a very common complication in OI, 31 can be managed initially by hearing aids, although it frequently requires surgery to replace the ossicular structures. We usually suggest the detection of hearing problems after puberty and periodically (eg, every 5-10 years) in adulthood.…”

mentioning

confidence: 99%

Current and emerging treatments for the management of osteogenesis imperfecta

Monti

Mottes²,

Fraschini³

et al. 2010

TCRM

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Osteogenesis imperfecta (OI) is the most common bone genetic disorder and it is characterized by bone brittleness and various degrees of growth disorder. Clinical severity varies widely; nowadays eight types are distinguished and two new forms have been recently described although not yet classified. The approach to such a variable and heterogeneous disease should be global and therefore multidisciplinary. For simplicity, the objectives of treatment can be reduced to three typical situations: the lethal perinatal form (type II), in which the problem is survival at birth; the severe and moderate forms (types III-IX), in which the objective is 'autonomy'; and the mild form (type I), in which the aim is to reach 'normal life'. Three types of treatment are available: non-surgical management (physical therapy, rehabilitation, bracing and splinting), surgical management (intramedullary rod positioning, spinal and basilar impression surgery) and medical-pharmacological management (drugs to increase the strength of bone and decrease the number of fractures as bisphosphonates or growth hormone, depending on the type of OI). Suggestions and guidelines for a therapeutic approach are indicated and updated with the most recent findings in OI diagnosis and treatment.

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Clinical manifestations of osteogenesis imperfecta in adulthood: An integrative review of quantitative studies and case reports

Chougui

Addab

Palomo

et al. 2020

American J of Med Genetics Pt A

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Osteogenesis imperfecta (OI) is a rare genetic disorder of the bones caused by a mutation in Type I collagen genes. As adults with OI are aging, medical concerns secondary to OI may arise. This integrative review sought to review, appraise, and synthesize the clinical manifestations faced by adults with OI. Four electronic bibliographic databases were searched. Published quantitative, qualitative, and mixed‐methods studies, as well as case reports from 2000 to March 2019, addressing a clinical manifestation in adulthood, were reviewed. Eligible studies and case reports were subsequently appraised using the Mixed Methods Appraisal Tool and Case Report Checklist, respectively. Twenty quantitative studies and 88 case reports were included for review regardless of the varying methodological quality score. These studies collectively included 2,510 adults with different OI types. Several clinical manifestations were studied, and included: hearing loss, cardiac diseases, pregnancy complications, cerebrovascular manifestations, musculoskeletal manifestations, respiratory manifestations, vision impairment, and other clinical manifestations. Increased awareness may optimize prevention, treatment, and follow‐up. Opportunities to enhance the methodological quality of research including better design and methodology, multisite collaborations, and larger and diverse sampling will optimize the generalizability and transferability of findings.

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Audiological Findings in Osteogenesis Imperfecta

Abstract: Hearing loss was not uncommon regardless of age. Therefore, close audiological monitoring of patients with OI is recommended across the age spectrum.

Cited by 49 publications

References 38 publications

Audiologic Phenotype of Osteogenesis Imperfecta

Audiologic Phenotype of Osteogenesis Imperfecta

Current and emerging treatments for the management of osteogenesis imperfecta

Clinical manifestations of osteogenesis imperfecta in adulthood: An integrative review of quantitative studies and case reports

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