Osteogenesis imperfecta and hearing loss: an analysis of patients attended at a benchmark treatment center in southern Brazil

Otavio, Andressa Colares da Costa; Teixeira, Adriane Ribeiro; Félix, Têmis Maria; Rosito, Letícia Petersen Schimidt; Costa, Sady Selaimen da

doi:10.1007/s00405-020-05799-x

Cited by 6 publications

(6 citation statements)

References 25 publications

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“…The reported prevalence varies across studies; a recent study with a North American cohort of 312 individuals reported hearing impairment in 28% of OI cases (24). A similar prevalence was reported for a cohort in Brazil (28).…”

Section: Hearing Lossmentioning

confidence: 69%

“…Hearing loss may be conductive, sensorineural, or mixed, as well as unilateral or bilateral. Conductive hearing loss is most frequently found in the pediatric and adolescent populations, while mixed or sensorineural hearing loss are found predominantly in adults (23,24,28). When present, hearing impairment is in the milder range and of adult onset in most patients, with no clear relation to OI type or severity (23); however, one study identified a higher risk of early onset hearing loss in moderate to severe forms of OI (24).…”

Section: Hearing Lossmentioning

confidence: 99%

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Management of Endocrine Disease: Osteogenesis imperfecta: an update on clinical features and therapies

Marom

Rabenhorst

Morello

2020

European Journal of Endocrinology

162

138

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Osteogenesis imperfecta (OI) is an inherited skeletal dysplasia characterized by bone fragility and skeletal deformities. While the majority of cases are associated with pathogenic variants in COL1A1 and COL1A2, the genes encoding type I collagen, up to 25% of cases are associated with other genes that function within the collagen biosynthesis pathway or are involved in osteoblast differentiation and bone mineralization. Clinically, OI is heterogeneous in features and variable in severity. In addition to the skeletal findings, it can affect multiple systems including dental and craniofacial abnormalities, muscle weakness, hearing loss, respiratory and cardiovascular complications. A multi-disciplinary approach to care is recommended to address not only the fractures, reduced mobility, growth and bone pain but also other extra-skeletal manifestations. While bisphosphonates remain the mainstay of treatment in OI, new strategies are being explored, such as sclerostin inhibitory antibodies and TGF beta inhibition, to address not only the low bone mineral density but also the inherent bone fragility. Studies in animal models have expanded the understanding of pathomechanisms of OI and, along with ongoing clinical trials, will allow to develop better therapeutic approaches for these patients.

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Section: Hearing Lossmentioning

confidence: 69%

Section: Hearing Lossmentioning

confidence: 99%

Management of Endocrine Disease: Osteogenesis imperfecta: an update on clinical features and therapies

Marom

Rabenhorst

Morello

2020

European Journal of Endocrinology

162

138

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“…Different observations come from Hartikka et al 7 and Swinnen et al 8 , who found no correlation between the mutated gene and OI type and the severity of hearing loss. Instead, da Costa Otavio et al 12 reported normal hearing thresholds in people with OI type I, conductive hearing loss for OI type III, and sensorineural hearing loss for OI type IV. In a multicenter study, Machol et al 24 found an increased prevalence for hearing loss with age in OI type I, while people with OI type III and IV are at higher risk of developing hearing loss already in the first decade of life.…”

Section: Introductionmentioning

confidence: 98%

“…In other OI cases, sclerotic thickening of the cochlear otic capsule and a brittle scutum has been reported 53 , and demineralization of the bone around the cochlea and vestibule and partial ossification of the basal turn of the cochlea 54 . In OI, mixed hearing loss often arises with fenestral involvement causing conductive hearing loss and progresses toward the retrofenestral components with age, causing sensorineural hearing loss 6 , 8 , 12 , 21 , 24 . Interestingly, Swinnen et al 49 found an association between whole body low bone mineral density and conductive or mixed hearing loss in people with OI.…”

Section: Introductionmentioning

confidence: 99%

Treatments for hearing loss in osteogenesis imperfecta: a systematic review and meta-analysis on their efficacy

Ugarteburu

Cardoso

Richter

et al. 2022

Sci Rep

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About 70% of people with osteogenesis imperfecta (OI) experience hearing loss. There is no cure for OI, and therapies to ameliorate hearing loss rely on conventional treatments for auditory impairments in the general population. The success rate of these treatments in the OI population with poor collagenous tissues is still unclear. Here, we conduct a systematic review and meta-analysis on the efficacy of treatments addressing hearing loss in OI. This study conforms to the reporting standards of the Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA). Data sources include published articles in Medline via PubMed, Web of Science, Scopus, and Embase, from their inception to November 2020. Studies included individuals with OI undergoing a hearing loss treatment, having pre- and postoperative objective assessment of hearing function at a specified follow-up length. Our search identified 1144 articles, of which 67 were reviewed at full-text screening. A random-effects meta-analysis was conducted on the selected articles (n = 12) of people with OI that underwent stapes surgery. Success was assessed as the proportion of ears with a postoperative Air–Bone Gap (ABG) ≤ 10 dB. A systematic review was conducted on the remaining articles (n = 13) reporting on other treatments. No meta-analysis was conducted on the latter due to the low number of articles on the topic and the nature of single case studies. The meta-analysis shows that stapes surgeries have a low success rate of 59.08 (95% CI 45.87 to 71.66) in the OI population. The systematic review revealed that cochlear implants, bone-anchored hearing aids, and other implantable hearing aids proved to be feasible, although challenging, in the OI population, with only 2 unsuccessful cases among the 16 reviewed single cases. This analysis of published data on OI shows poor clinical outcomes for the procedures addressing hearing loss. Further studies on hearing loss treatments for OI people are needed. Notably, the mechanisms of hearing loss in OI need to be determined to develop successful and possibly non-invasive treatment strategies.

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“…Most case-series on this subject originate from North America, Europe and Australia 5,9,10 . To the best of our knowledge, there are only two articles reporting HL in OI patients from South America; a case series from Brazil, and a pediatric case-series from Venezuela 11,12 .…”

mentioning

confidence: 99%

Observed Frequency and Characteristics of Hearing Loss in Osteogenesis Imperfecta

et al. 2020

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Background: Osteogenesis imperfecta (OI) is a rare group of genetic disorders affecting connective tissue, with consequent bone fragility, frequent fractures and skeletal deformity. Depending on the type, patients can have blue sclera, dentinogenesis imperfecta, and hearing loss. Aim: To determine the frequency, type and audiometric characteristics of hearing loss in a group of patients with OI. Material and Methods: A prospective cohort study was completed. A clinical and diagnostic hearing evaluation with tympanometry, acoustic stapedial reflex, pure-tone and speech audiometry were performed. Results: Thirty patients completed the study; mean age of 22 years (range 6-63 years). Sixty seven percent had a type I OI. Overall, nine (30%) patients had hearing loss (15/60 ears). Of these, six had bilateral hearing loss. Of the 15 affected ears, six showed conductive hearing loss, five sensorineural hearing loss, and four mixed hearing loss. Patients with hearing loss were older than patients with normal hearing. Only one pediatric patient developed hearing loss. Of the ears without hearing loss, 13% did not have an acoustic stapedial reflex. Conclusions: In this group of patients with OI, 30% had hearing loss and among those ears with normal hearing, 13% did not have an acoustic stapedial reflex. Patients with OI should be monitored for hearing loss.

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Osteogenesis imperfecta and hearing loss: an analysis of patients attended at a benchmark treatment center in southern Brazil

Cited by 6 publications

References 25 publications

Management of Endocrine Disease: Osteogenesis imperfecta: an update on clinical features and therapies

Management of Endocrine Disease: Osteogenesis imperfecta: an update on clinical features and therapies

Treatments for hearing loss in osteogenesis imperfecta: a systematic review and meta-analysis on their efficacy

Observed Frequency and Characteristics of Hearing Loss in Osteogenesis Imperfecta

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