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Concomitant imaging and genetic findings in children with unilateral sensorineural hearing loss

Published online by Cambridge University Press:  27 June 2017

M Gruber ,
C Brown ,
M Mahadevan  and
M Neeff
M Gruber*
Affiliation:
Paediatric Otolaryngology Unit, Starship Children's Hospital, Auckland, New Zealand Otolaryngology Department, Galilee Medical Center, Bar-Ilan University, Nahariya, Israel
C Brown
Affiliation:
Paediatric Otolaryngology Unit, Starship Children's Hospital, Auckland, New Zealand
M Mahadevan
Affiliation:
Paediatric Otolaryngology Unit, Starship Children's Hospital, Auckland, New Zealand
M Neeff
Affiliation:
Paediatric Otolaryngology Unit, Starship Children's Hospital, Auckland, New Zealand
*
Address for correspondence: Dr Maayan Gruber, Otolaryngology Department, Galilee Medical Centre, Nahariya, Israel E-mail: maayan_gr@yahoo.com
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Abstract

Objective:

To describe the concomitant imaging and genetic findings in children diagnosed with non-syndromic unilateral sensorineural hearing loss.

Methods:

A retrospective cohort study was conducted of 60 children diagnosed between January 2005 and December 2015 in a tertiary-level paediatric institution.

Results:

Average age at diagnosis was 4.3 years. All children were considered non-syndromic. Hearing loss was categorised as mild (17 children), moderate (17 children), severe (7 children) or profound (19 children). Imaging was performed in 43 children (71.66 per cent). Nineteen patients (44.2 per cent) had positive computed tomography or magnetic resonance imaging findings. Genetic testing was performed in 51 children (85 per cent). Sixteen children (31 per cent) tested positive to connexin 26 (GJB2); 1 patient (2 per cent) had a homozygous mutation of GJB2 and 15 were heterozygous carriers. Amongst children who tested positive as heterozygous carriers of a GJB2 mutation, there was a high rate of positive imaging findings (47 per cent compared to 37.2 per cent in the total cohort). A genetic abnormality was confirmed in 50 per cent of children with positive imaging findings who underwent genetic testing.

Conclusion:

Rates of concomitant imaging and genetic findings suggest that both investigations are of value in the study of these patients.

Keywords

Hearing LossGeneticsNewborns

Information

Type
Main Articles
Information
The Journal of Laryngology & Otology , Volume 131 , Issue 8 , August 2017 , pp. 688 - 695
Copyright
Copyright © JLO (1984) Limited 2017 

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References

1 Culbertson, JL, Gilbert, LE. Children with unilateral sensorineural hearing loss: cognitive, academic, and social development. Ear Hear 1986;7:38–42 CrossRefGoogle ScholarPubMed
2 Bovo, R, Martini, A, Agnoletto, M. Auditory and academic performance of children with unilateral hearing loss. Scand Audiol Suppl 1988;30:71–4Google ScholarPubMed
3 Brookhouser, PE, Worthington, DW, Kelly, WJ. Unilateral hearing loss in children. Laryngoscope 1991;101:1264–72CrossRefGoogle ScholarPubMed
4 Dancer, J, Burl, NT, Waters, S. Effects of unilateral hearing loss on teacher responses to the SIFTER: Screening Instrument for Targeting Educational Risk. Am Ann Deaf 1995;140:291–4CrossRefGoogle Scholar
5 Niskar, A, Kiezak, S, Holmes, A, Esteban, E, Rubin, C, Brody, D. Prevalence of hearing loss among children 6 to 19 years of age. JAMA 1998;279:1071–5CrossRefGoogle Scholar
6 Bess, FH, Dodd-Murphy, JD, Parker, RA. Children with minimal sensorineural hearing loss: prevalence, educational performance, and functional health status. Ear Hear 1998;19:339–54CrossRefGoogle Scholar
7 Sirimanna, KS. Management of the hearing impaired infant. Semin Neonatol 2001;6:511–19CrossRefGoogle ScholarPubMed
8 Gardner, P, Oitmaa, E, Messner, A, Hoefsloot, L, Metspalu, A, Schrijver, I. Simultaneous multigene mutation detection in patients with sensorineural hearing loss through a novel diagnostic microarray: a new approach for newborn screening follow-up. Pediatrics 2006;118:985–94CrossRefGoogle ScholarPubMed
9 Wiley, S, Arjmand, E, Meinzen-Derr, J, Dixon, M. Findings from multidisciplinary evaluation of children with permanent hearing loss. Int J Pediatr Otorhinolaryngol 2011;75:1040–4CrossRefGoogle ScholarPubMed
10 Lin, JW, Chowdhury, N, Mody, A, Tonini, R, Emery, C, Haymond, J et al. Comprehensive diagnostic battery for evaluating sensorineural hearing loss in children. Otol Neurotol 2011;32:259–64CrossRefGoogle ScholarPubMed
11 Ghogomu, N, Umansky, A, Lieu, JE. Epidemiology of unilateral sensorineural hearing loss with universal newborn hearing screening. Laryngoscope 2014;124:295–300 CrossRefGoogle ScholarPubMed
12 Haffey, T, Fowler, N, Anne, S. Evaluation of unilateral sensorineural hearing loss in the pediatric patient. Int J Pediatr Otorhinolaryngol 2013;77:955–8CrossRefGoogle ScholarPubMed
13 Lee, KH, Larson, DA, Shott, G, Rasmussen, B, Cohen, AP, Benton, C et al. Audiologic and temporal bone imaging findings in patients with sensorineural hearing loss and GJB2 mutations. Laryngoscope 2009;119:554–8CrossRefGoogle ScholarPubMed
14 Preciado, DA, Lawson, L, Madden, C, Myer, D, Ngo, C, Bradshaw, JK et al. Improved diagnostic effectiveness with a sequential diagnostic paradigm in idiopathic pediatric sensorineural hearing loss. Otol Neurotol 2005;26:610–15CrossRefGoogle ScholarPubMed
15 Pearce, MS, Salotti, JA, Little, MP, McHugh, K, Lee, C, Kim, KP. Radiation exposure from CT scans in childhood and subsequent risk of leukaemia and brain tumours: a retrospective cohort study. Lancet 2012;380:499–505 CrossRefGoogle ScholarPubMed
16 Yu, CK, Yuen, VM, Wong, GT, Irwin, MG. The effects of anaesthesia on the developing brain: a summary of the clinical evidence. F1000Res 2013;2:166 CrossRefGoogle Scholar
17 Olsen, EA, Brambrink, AM. Anesthesia for the young child undergoing ambulatory procedures: current concerns regarding harm to the developing brain. Curr Opin Anaesthesiol 2013;26:677–84CrossRefGoogle Scholar
18 Shariat, M, Mertens, L, Seed, M, Grosse-Wortmann, L, Golding, F, Mercer-Rosa, L et al. Utility of feed-and-sleep cardiovascular magnetic resonance in young infants with complex cardiovascular disease. Pediatr Cardiol 2015;36:809–12CrossRefGoogle ScholarPubMed
19 Friedman, AB, Guillory, R, Ramakrishnaiah, RH, Frank, R, Gluth, MB, Richter, GT et al. Risk analysis of unilateral severe-to-profound sensorineural hearing loss in children. Int J Pediatr Otorhinolaryngol 2013;77:1128–31CrossRefGoogle ScholarPubMed
20 Clemmens, CS, Guidi, J, Caroff, A, Cohn, SJ, Brant, JA, Laury, AM et al. Unilateral cochlear nerve deficiency in children. Otolaryngol Head Neck Surg 2013;149:318–25CrossRefGoogle ScholarPubMed
21 Hall, A, Pembrey, M, Lutman, M, Steer, C, Bitner-Glindzicz, M. Prevalence and audiological features in carriers of GJB2 mutations, c.35delG and c.101 T > C (p.M34 T), in a UK population study. BMJ Open 2012;31:2–4 Google Scholar
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