Audiometric, surgical, and genetic findings in 15 ears of patients with osteogenesis imperfecta

Swinnen, Freya; Leenheer, Els De; Coucke, Paul; Cremers, C.W.R.J.; Dhooge, Ingeborg

doi:10.1002/lary.20155

Cited by 44 publications

(44 citation statements)

References 28 publications

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“…Though, compared to otosclerosis, such an intervention is more challenging in OI because of a higher risk on complications, such as extremely thick and hard, overgrown or brittle footplates, bleeding tendency of the highly vascularized middle ear mucosa and ossicular atrophy or fractures [13][14][15][16][17] . Therefore, differential diagnosis between both diseases is important.…”

Section: Discussionmentioning

confidence: 99%

“…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] . Thickened, irregular and hard footplates as well as brittle and soft footplates have been described.…”

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: 99%

Section: Introductionmentioning

confidence: 99%

Audiologic Phenotype of Osteogenesis Imperfecta

Swinnen¹,

Dhooge²,

Coucke³

et al. 2012

Otology &Amp; Neurotology

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“…The duration of the postoperative audiometric follow-up ranged from 6 months to 37 years and, according to our previous series [Swinnen et al, 2009], it was subdivided into short-and long-term postoperative follow-up on the basis of a cut-off value of 12 months. From all ears but 1, we disposed of short-term postoperative data.…”

Section: Analysis Of Audiometric Resultsmentioning

confidence: 99%

“…Furthermore, the hearing gain tends to be eliminated in the long term because of progression of the sensorineural component which is inherent to the disease and occurs in both operated and nonoperated ears [Shea and Postma, 1982;Pedersen, 1985;Garretsen and Cremers, 1990;Ferekidis et al, 2000]. We expanded our previously published results on genetic, surgical and audiometric findings in 15 ears [Swinnen et al, 2009] with a larger sample of operated OI ears retrospectively obtained from several clinics in Belgium and the Netherlands. The postoperative audiometric follow-up is the longest, to our knowledge, published to date.…”

Section: Introductionmentioning

confidence: 99%

“…In former days, the diagnosis of OI has put off otologists to perform stapes surgery because of a higher risk of complications, such as bleeding of the mucosa, ossicular atrophy and the progressive character of the sensorineural hearing loss component inherent to the disease [Cremers and Garretsen, 1989], though, during the last few decades, reports on the results of stapes surgery in larger series of OI patients [Shea and Postma, 1982;Pedersen 1985;Cremers and Garretsen, 1989;Garretsen and Cremers, 1990;van der Rijt and Cremers, 2003;Kuurila et al, 2004;Vincent et al, 2005;Swinnen et al, 2009] have shown that a successful reduction in hearing thresholds may be expected in the majority of the OI patients with conductive hearing loss. Nevertheless, a few cases of total deafness following surgery have been reported [Garretsen and Cremers, 1990;van der Rijt and Cremers, 2003;Kuurila et al, 2004], as well as less beneficial results when revision surgery is concerned [Shea and Postma, 1982;Garretsen and Cremers, 1991b;van der Rijt and Cremers, 2003].…”

Section: Introductionmentioning

confidence: 99%

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Stapes Surgery in Osteogenesis Imperfecta: Retrospective Analysis of 34 Operated Ears

Swinnen

Leenheer²,

Coucke³

et al. 2012

Audiol Neurotol

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Intraoperative findings of stapes surgery in 34 ears from 22 patients with genetically confirmed osteogenesis imperfecta (OI) are reported, as well as the audiometric results after the longest postoperative follow-up published to date. Twenty-nine out of 34 ears underwent primary stapes surgery and 5 ears revision surgery. Postoperative audiometric follow-up ranged from 6 months to 37 years. Stapes footplates were fixed in all ears. Additionally, footplates were thickened or fragile, stapes crura atrophic or fractured, and middle ear mucosae thickened or hypervascularized. Short-term postoperative audiometry revealed improved hearing and reduced air-bone gaps in 28/29 primary operated ears and in all revision cases. In the 22 ears with long-term postoperative follow-up (mean duration: 16 years), hearing gain was still significant at the latest audiometric evaluation. Independently of the patients being diagnosed with OI type I or IV and independently of the underlying OI genotype, beneficial results are obtained in the majority of OI patients undergoing primary or revision stapes surgery for reduction of conductive hearing loss components caused by stapes footplate fixation. Despite the progressive course of the concomitant sensorineural component, hearing gain remains beneficial over several decades.

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A Deep Intronic Splice Variant in COL1A1 Causing Osteogenesis Imperfecta Type II

Schouw,

Ruivenkamp,

Koopmann

et al. 2024

American J of Med Genetics Pt A

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Osteogenesis imperfecta (OI) is a rare disease, hallmarked by bone fragility, multiple fractures, and deformities, and is commonly caused by pathogenic variants in the genes encoding type I collagen. Type II OI is the most severe form and is lethal in the perinatal period. Here, we report recurrence of perinatal lethal OI in two fetuses due to parental mosaicism for a deep intronic pathogenic variant at c.2451 + 77C > T in intron 35 of COL1A1, which resulted in aberrant splicing and the in‐frame addition of 75 nucleotides into the mRNA. These patients highlight the importance of considering deep intronic variants in type 1 collagen genes in patients with high suspicion of OI, which may be missed with conventional genetic analysis.

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Audiometric, surgical, and genetic findings in 15 ears of patients with osteogenesis imperfecta

Cited by 44 publications

References 28 publications

Audiologic Phenotype of Osteogenesis Imperfecta

Audiologic Phenotype of Osteogenesis Imperfecta

Stapes Surgery in Osteogenesis Imperfecta: Retrospective Analysis of 34 Operated Ears

A Deep Intronic Splice Variant in COL1A1 Causing Osteogenesis Imperfecta Type II

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