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Enlarged vestibular aqueducts and other inner-ear abnormalities in patients with Down syndrome

Published online by Cambridge University Press:  28 December 2016

C M Clark ,
H H Patel ,
S G Kanekar  and
H Isildak
C M Clark
Affiliation:
Department of Surgery, Division of Otolaryngology – Head and Neck Surgery, Pennsylvania State University College of Medicine, Hershey, PA, USA
H H Patel
Affiliation:
Department of Surgery, Division of Otolaryngology – Head and Neck Surgery, Pennsylvania State University College of Medicine, Hershey, PA, USA
S G Kanekar
Affiliation:
Department of Radiology, Pennsylvania State University College of Medicine, Hershey, PA, USA
H Isildak*
Affiliation:
Department of Surgery, Division of Otolaryngology – Head and Neck Surgery, Pennsylvania State University College of Medicine, Hershey, PA, USA
*
Address for correspondence: Dr Huseyin Isildak, Department of Surgery, Division of Otolaryngology – Head and Neck Surgery, Pennsylvania State University, College of Medicine, 500 University Drive, H091, Hershey, PA 17033-0850, USA Fax: +01 717 531 4907 E-mail: [email protected]
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Abstract

Background:

Histopathological anomalies of inner-ear structures in individuals with Down syndrome have been well documented; however, few studies have examined the radiological features.

Methods:

A retrospective study was conducted of temporal bone computed tomography images in 38 individuals (75 ears) with Down syndrome to evaluate the prevalence of inner-ear abnormalities and assess vestibular aqueduct widths.

Results:

Inner-ear anomalies were identified in 20 of the 38 individuals (52.6 per cent). Seven of the 75 temporal bones (9.3 per cent) were found to have higher than previously reported. A dilated internal auditory canal and vestibule were more common among the present study group, while prior studies have demonstrated internal auditory canal stenosis and decreased vestibule size.

Conclusion:

Down syndrome patients exhibit a high prevalence of dysplastic inner-ear features that confer substantial risk of sensorineural hearing loss. Computed tomography is a useful screening aid to detect inner-ear abnormalities, particularly enlarged vestibular aqueducts, which cause preventable sensorineural hearing loss in this population.

Keywords

Down SyndromeHearing LossVestibular AqueductInner EarComputed Tomography, X-Ray
Type
Main Articles
Information
The Journal of Laryngology & Otology , Volume 131 , Issue 4 , April 2017 , pp. 298 - 302
Copyright
Copyright © JLO (1984) Limited 2016 

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References

1 Parker, SE, Mai, CT, Canfield, MA, Rickard, R, Wang, Y, Meyer, RE et al. Updated national birth prevalence estimates for selected birth defects in the United States, 2004–2006. Birth Defects Res A Clin Mol Teratol 2010;88:1008–16Google Scholar
2 Vundinti, BR, Ghosh, K. Incidence of Down syndrome: hypotheses and reality. Indian J Hum Genet 2011;17:117–19Google Scholar
3 Asim, A, Kumar, A, Muthuswamy, S, Jain, S, Agarwal, S. Down syndrome: an insight of the disease. J Biomed Sci 2015;22:41 Google Scholar
4 Venail, F, Gardiner, Q, Mondain, M. ENT and speech disorders in children with Down's syndrome: an overview of pathophysiology, clinical features, treatments, and current management. Clin Pediatr 2004;43:783–91Google Scholar
5 Fulton, RT, Lloyd, LL. Hearing impairment in a population of children with Down's syndrome. Am J Ment Defic 1968;73:298–302 Google Scholar
6 Brooks, DN, Wooley, H, Kanjilal, GC. Hearing loss and middle ear disorders in patients with Down's syndrome (mongolism). J Ment Defic Res 1972;16:21–9Google Scholar
7 Keiser, H, Montague, J, Wold, D, Maune, S, Pattison, D. Hearing loss of Down syndrome adults. Am J Ment Defic 1981;85:467–72Google Scholar
8 Balkany, TJ, Downs, MP, Jafek, BW, Krajiceck, MJ. Hearing loss in Down's syndrome: a treatable handicap more common than generally recognized. Clin Pediatr 1979;18:116–18Google Scholar
9 McPherson, B, Lai, SP, Leung, KK, Ng, IH. Hearing loss in Chinese school children with Down syndrome. Int J Pediatr Otorhinolaryngol 2007;71:1905–15Google Scholar
10 Marttilla, TI. Result of audiometrical screening in Finnish schoolchildren. Int J Pediatr Otorhinolaryngol 1986;11:39–46 Google Scholar
11 Yoshinaga-Itano, C, Sedey, AL, Coulter, DK, Mehl, AL. Language of early and later-identified children with hearing loss. Pediatrics 1998;102:1161–71Google Scholar
12 Park, AH, Wilson, MA, Stevens, PT, Harward, R, Hohler, N. Identification of hearing loss in pediatric patients with Down syndrome. Otolaryngol Head Neck Surg 2012;146:135–40Google Scholar
13 Strome, M. Down's syndrome – a modern otorhinolaryngological perspective. Laryngoscope 1981;41:1581–94Google Scholar
14 Shibahara, Y, Sando, I. Congenital anomalies of the Eustachian tube in children with Down syndrome. Ann Otol Rhinol Laryngol 1989;98:543–7Google Scholar
15 Shott, SR. Down syndrome: common otolaryngologic manifestations. Am J Med Genet C Semin Med Genet 2006;142C:131–40Google Scholar
16 Blaser, S, Propst, EJ, Martin, D, Feigenbaum, A, James, AL, Shannon, P et al. Inner ear dysplasia is common in children with Down syndrome (trisomy 21). Laryngoscope 2006;116:2113–19Google Scholar
17 Yamaguchi, N, Sando, I, Hashida, Y, Takahashi, H, Matsune, S. Histologic study of eustachian tube cartilage with and without congenital anomalies: a preliminary study. Ann Otol Rhinol Laryngol 1990;99:984–7Google Scholar
18 Igarashi, M, Takahashi, M, Alford, BR, Johnson, PE. Inner ear morphology in Down's syndrome. Acta Otolaryngol 1977;83:175–81Google Scholar
19 Bilgin, H, Kasemsuwan, L, Schachern, P, Paparella, M, Le, CT. Temporal bone study of Down's syndrome. Arch Otolaryngol Head Neck Surg 1996;122:271–5Google Scholar
20 Walby, AP, Schuknecht, HF. Concomitant occurrence of cochleosaccular dysplasia and Down's syndrome. Arch Otolaryngol 1984;110:477–9Google Scholar
21 Harada, T, Sando, I. Temporal bone histopathologic findings in Down's syndrome. Arch Otolaryngol 1981;107:96–103 Google Scholar
22 Intrapiromkul, J, Aygun, N, Tunkel, DE, Carone, M, Yousem, DM. Inner ear anomalies seen on CT images in people with Down syndrome. Pediatr Radiol 2012;42:1449–55Google Scholar
23 Saliba, I, Sbeity, S, El-Zir, E, Yammine, FG, Noun, CT, Haddad, A. Down syndrome: an electrophysiological and radiological profile. Laryngoscope 2014;124:E141–7 Google Scholar
24 Arcand, P, Desrosiers, M, Dube, J, Abela, A. The large vestibular aqueduct syndrome and sensorineural hearing loss in the pediatric population. J Otolaryngol 1991;20:247–50Google Scholar
25 Griffith, AJ, Wangemann, P. Hearing loss associated with enlargement of the vestibular aqueduct: mechanistic insights from clinical phenotypes, genotypes, and mouse models. Hear Res 2011;281:11–17 Google Scholar
26 Valvassori, GE, Clemis, JD. The large vestibular aqueduct syndrome. Laryngoscope 1978;88:723–8Google Scholar
27 Stimmer, H, Nidermeyer, HP, Kehl, V, Rummeny, EJ. Nontumorous enlargement of the internal auditory canal: a risk factor for sensorineural hearing loss? A high resolution CT study. Rofo 2015;187:450–8Google Scholar
28 Purcell, D, Johnson, J, Fischbein, N, Lalwani, AK. Establishment of normative cochlear and vestibular measurements to aid in the diagnosis of inner ear malformations. Otolaryngol Head Neck Surg 2003;128:78–87 Google Scholar
29 Jensen, J. Congenital anomalies of the inner ear. Radiol Clin North Am 1974;12:473–82Google Scholar
30 Lin, SR, Lee, KF, Stein, GN, Lee, I. Asymmetrical internal auditory canals. Arch Otolaryngol 1973;98:164–9Google Scholar