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An auditory profile of sclerosteosis

Published online by Cambridge University Press:  19 March 2014

J M Potgieter ,
D W Swanepoel ,
B M Heinze ,
L M Hofmeyr ,
A A S Burger  and
H Hamersma
J M Potgieter
Affiliation:
Department of Speech-Language Pathology and Audiology, University of Pretoria, South Africa
D W Swanepoel*
Affiliation:
Department of Speech-Language Pathology and Audiology, University of Pretoria, South Africa Ear Sciences Centre, School of Surgery, University of Western Australia, Nedlands, Australia Ear ScienceInstitute Australia, Subiaco, Western Australia, Australia
B M Heinze
Affiliation:
Department of Speech-Language Pathology and Audiology, University of Pretoria, South Africa
L M Hofmeyr
Affiliation:
Department of Otorhinolaryngology, Faculty of Health Sciences, University of Pretoria, South Africa
A A S Burger
Affiliation:
Muelmed Mediclinic, Pretoria, South Africa
H Hamersma
Affiliation:
Private Practice, Roodepoort, South Africa
*
Address for correspondence: Prof D Swanepoel, Department of Speech-Language Pathology and Audiology, Communication Pathology Building, University of Pretoria, Pretoria 0002, Republic of South Africa E-mail: [email protected]
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Abstract

Objective:

To characterise auditory involvement secondary to excessive craniotubular bone growth in individuals with sclerosteosis in South Africa.

Methods:

This cross-sectional study assessed the auditory profile of 10 participants with sclerosteosis. An auditory test battery was used and results for each ear were recorded using descriptive and comparative analyses.

Results:

All participants presented with bilateral, mixed hearing losses. Of the 20 ears, hearing loss was moderate in 5 per cent (n = 1), severe in 55 per cent (n = 11) and profound in 40 per cent (n = 8). Air–bone gaps were smaller in older participants, although the difference was not statistically significant (p > 0.05). Computed tomography scans indicated pervasive abnormalities of the external auditory canal, tympanic membrane, middle-ear space, ossicles, oval window, round window and internal auditory canal. Narrowed internal auditory canals corresponded to poor speech discrimination, indicative of retrocochlear pathology and absent auditory brainstem response waves.

Conclusion:

Progressive abnormal bone formation in sclerosteosis involves the middle ear, the round and oval windows of the cochlea, and the internal auditory canal. The condition compromises conductive, sensory and neural auditory pathways, which results in moderate to profound, mixed hearing loss.

Keywords

AudiologyBone DysplasiasHearing Loss, ConductiveSclerosteosisSensorineural Hearing Loss
Type
Main Articles
Information
The Journal of Laryngology & Otology , Volume 128 , Issue 4 , April 2014 , pp. 336 - 344
Copyright
Copyright © JLO (1984) Limited 2014 

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References

1Hamersma, H, Hofmeyr, L. Too much bone: the middle ear in sclerosing bone dysplasias. Adv Otorhinolaryngol 2007;65:61–7Google Scholar
2Stein, SA, Witkop, C, Hill, S, Fallon, MD, Viernstein, L, Gucer, G et al. Sclerosteosis: neurogenic and pathophysiologic analysis of an American kinship. Neurology 1983;33:267–77Google Scholar
3Beighton, PH, Hamersma, H, Brunkow, ME. SOST-related sclerosing bone dysplasias. In: Pagon, RA, Adam, MP, Bird, TD, Dolan, CR, Fong, CT, Stephens, K, eds. GeneReviews. Seattle: University of Washington, Seattle, 4 June 2002Google Scholar
4Beighton, P, Hamersma, H. Sclerosteosis in South Africa. S Afr Med J 1979;55:783–8Google Scholar
5Balemans, W, Van Hul, W. Identification of the disease-causing gene in sclerosteosis–discovery of a novel bone anabolic target? J Musculoskelet Neuron Interact 2004;4:139–42Google Scholar
6Balemans, W, Cleiren, E, Siebers, U, Horst, J, Van Hul, W. A generalized skeletal hyperostosis in two siblings caused by a novel mutation in the SOST gene. Bone 2005;36:943–7Google Scholar
7Leupin, O, Kramer, I, Collette, NM, Loots, GG, Natt, F, Kneissel, M et al. Control of the SOST bone enhancer by PTH using MEF2 transcription factors. J Bone Miner Res 2007;22:1957–67Google Scholar
8Beighton, P, Hamersma, H. The clinical features of sclerosteosis. A review of the manifestation of twenty-five affected individuals. Ann Intern Med 1976;84:393–7Google Scholar
9Hamersma, H, Gardner, J, Beighton, P. The natural history of sclerosteosis. Clin Genet 2003;63:192–7CrossRefGoogle ScholarPubMed
10Hofmeyr, LM, Hamersma, H. Sclerosing bone dysplasias: neurologic assessment and management. Curr Opin Otolaryngol Head Neck Surg 2004;12:393–7Google Scholar
11Schuknecht, HF. Pathology of the Ear, 2nd edn.Philadelphia: Lea & Febiger, 1993Google Scholar
12Jahn, AF. Bone physiology of the temporal bone, otic capsule, and ossicles. In: Jahn, AF, Santos-Sacchi, J, eds. Physiology of the Ear. New York: Raven Press, 1988;152Google Scholar
13Jerger, JF. Clinical experience with impedance audiometry. Arch Otolaryngol 1970;92:311–24Google Scholar
14Carhart, R, Jerger, JF. Preferred method for clinical determination of pure-tone thresholds. J Speech Hear Dis 1959;24:330–45Google Scholar
15Hughson, W, Westlake, H. Manual for program outline for rehabilitation of aural casualties both military and civilian. Trans Am Acad Ophthalmol Otolaryngol 1944;48:1–15Google Scholar
16Jerger, J, Jerger, S. Measurement of hearing in adults. In: Paparella, MM, Shumrick, DA, eds. Otolaryngology, 2nd edn.Philadelphia: WB Saunders, 1980;1225–62Google Scholar
17Laubscher, AMU, Tesner, HEC. Afrikaanse Spondee Woordelys. Pretoria: Department of Communication Pathology, 1966Google Scholar
18Laubscher, AMU, Tesner, HEC. Afrikaanse Fonetiese Gebalanseerde Woordelys. Pretoria: Department of Communication Pathology, 1966Google Scholar
19Hall, JW, Mueller, HG. Audiologists' Desk Reference, 1st edn.San Diego: Singular Publishing Group, 1997Google Scholar
20Hall, JW, Swanepoel, D. Objective assessment of hearing. San Diego: Singular Publishing Group, 2010Google Scholar
21Yasan, H. Predictive role of Carhart's notch in pre-operative assessment for middle-ear surgery. J Laryngol Otol 2007;121:219–21Google Scholar
22Azlan, II, Asma, A, Saim, L. Otosclerosis and the role of second ear surgery. Med J Malaysia 2010;65:152–4Google ScholarPubMed
23Velegrakis, GA. Otosclerosis: state of the art. Otorhinolaryngologia Head Neck Surgery 2011;43:6–16Google Scholar
24Thomas, JP, Minovi, A, Dazert, S. Current aspects of etiology, diagnosis and therapy in otosclerosis. Otolaryng Pol 2011;65:162–70Google Scholar
25Perez, R, de Almeida, J, Nedzelski, JM, Chen, JM. Variations in the “Carhart's notch” and overclosure after laser-assisted stapedotomy in otosclerosis. Oto Neurotol 2009;30:1033–6Google Scholar
26Topsakal, V, Fransen, E, Schmerber, S, Declau, F, Yung, M, Gordts, F et al. Audiometric analyses confirm a cochlear component, disproportional to age, in stapedial otosclerosis. Otol Neurotol 2006;27:781–7Google Scholar
27Beighton, P, Horan, F, Hamersma, H. A review of the osteopetroses. Postgrad Med J 1977;53:507–16Google Scholar
28Beighton, P, Barnard, A, Hamersma, H, Van der Wouden, A. A syndromic status of sclerosteosis and van Buchem disease. Clin Genet 1984;25:175–81Google Scholar
29Swinnen, FKR, De Leenheer, EMR, Goemaere, S, Cremers, CWRJ, Coucke, PJ, Dhooge, IJM. Association between bone mineral density and hearing loss in osteogenesis imperfecta. Laryngoscope 2012;122:401–8Google Scholar
30Musiek, FE, Shinn, JB, Jirsa, RE. The auditory brainstem response in auditory nerve and brainstem dysfunction. In: Burkard, RF, Eggermont, JJ, Don, M, eds. Auditory Evoked Potentials: Basic Principles and Clinical Application. Baltimore: Lippincott Williams & Wilkins, 2007;291–312Google Scholar
31Miranda, TT, Pichora-Fuller, MK. Temporally jittered speech produces performance intensity, phonetically balanced rollover in young normal-hearing listeners. J Am Acad Audiol 2002;13:50–8Google Scholar
32Stach, BA, Hornsby, BWY, Rosenfeld, MAL, De Chicchis, AR. The complexity of auditory aging. Semin Hear 2009;30:94–111Google Scholar
33Jerger, J, Hayes, D. Diagnostic speech audiometry. Arch Otolaryngol 1977;103:216–22Google Scholar