Medical evaluation of pediatric hearing loss laboratory, radiographic, and genetic testing

Otolaryngologic Clinics of North America

Volumn 35, Issue 4, 2002, Pages 751-764

  Hone, Stephen W ^a   Smith, Richard J H ^a  

^a UNIVERSITY OF IOWA HOSPITALS AND CLINICS   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMINOGLYCOSIDE ANTIBIOTIC AGENT; CHLOROQUINE; CONNEXIN 26; QUININE; THALIDOMIDE;

AGE; CHILD; COMPUTER ASSISTED TOMOGRAPHY; EVALUATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; GENETIC SCREENING; HEARING LOSS; HUMAN; LABORATORY TEST; PENDRED SYNDROME; PHYSICAL EXAMINATION; RADIOGRAPHY; REVIEW; TEMPORAL BONE; VESTIBULE AQUEDUCT;

CHILD; CYTOGENETICS; ELECTROCARDIOGRAPHY; HEARING LOSS, SENSORINEURAL; HUMANS; IMMUNOGLOBULIN M; KARYOTYPING; TEMPORAL BONE; TOMOGRAPHY, X-RAY COMPUTED;

EID: 0036703784     PISSN: 00306665     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0030-6665(02)00048-8     Document Type: Review

References (58)

1. Mason JA, Herrmann KR. Universal infant hearing screening by automated auditory brainstem response measurement. Pediatrics 1998;101(2):221-8.
2. Mhatre AN, Lalwani AK. Molecular genetics of deafness. Otolaryngol Clin N Am 1996;29:421-35.
3. White KR, Vohr BR, Behrens TR. Universal newborn hearing screening using transient evoked otoacoustic emissions: Results of the Rhode Island Hearing Assessment Project. Semin Hear 1993;14:18-29.
4. Parving A. The need for universal neonatal hearing screening: Some aspects of epidemiology and identification. Acta Paediatr 1999;432:69-72.
5. Das VK. Aetiology of bilateral sensorineural hearing impairment in children: A 10 year study. Arch Dis Child 1996;74:8-12.
6. Parving A. Epidemiology of genetic hearing impairment. In: Genetics and Hearing Impairment. Editors: Martini A, Stephen SD, Reed A. London: Whurr Publishers; 1996. p. 73-81
7. Marres HA. Congenital abnormalities of the inner ear. In: Ludman H, Wright T, editors. Diseases of the ear. Bath: Arnold & Oxford University Press; 1998. p. 288-96.
8. McGee T, Wolters C, Stein L, Kraus N, Johnson D, Boyer K, et al. Absence of sensorineural hearing loss in treated infants and children with congenital toxoplasmosis. Otolaryngol Head Neck Surg 1992;106(1):75-80.
9. Karmody CS. Subclinical maternal rubella and congenital deafness. N Engl J Med 1968;278:809-14.
10. Noyola DE, Demmler GJ, Williamson WD, Griesser C, Sellers S, Llorente A, et al. Cytomegalovirus urinary excretion and long term outcome in children with congenital cytomegalovirus infection. Congenital CMV Longitudinal Study Group. Pediatr Infect Dis J 2000;19(6):505-10.
11. Whitley RJ, Cloud G, Gruber W, Storch GA, Demmler GJ, Jacobsn RF, et al. Ganciclovir treatment of symptomatic congenital cytomegalovirus infection: Results of a phase II study. National Institute of Allergy and Infectious Diseases Collaborative Antiviral Study Group. J Infect Dis 1997;175(5):1080-6.
12. Dahle AJ, McCollister FP. Audiological findings in children with neonatal herpes. Ear Hear 1988;9(5):256-8.
13. al Muhaimeed H, Zakzouk SM. Hearing loss and herpes simplex. J Trop Pediatr 1997; 43(l):20-4.
14. Takemori S, Tanaka Y, Suzuki JI. Thalidomide anomalies of the ear. Arch Otolaryngol 1976;102(7):425-7.
15. Gerber S. Review of a high-risk register for congenital or early onset deafness. Br J Audiol 1992;26:77-90.
16. Sutton GJ, Rowe S. Risk factors for childhood sensorineural hearing loss in the Oxford Region. Br J Audiol 1997;31:39-54.
17. Bamiou DE, Macardle B, Bitner-Glindzicz M, Sirimanna T. Aetiological investigations of hearing loss in childhood: A review. Clin Otolaryngol 2000;25:98-106.
18. Davis A, Wood S. The epidemiology of hearing impairment: Factors relevant to planning of services. Br J Audiol 1992;26:77-90.
19. Linthicum Jr FH. Viral causes of sensorineural hearing loss. Otolaryngol Clin N Am 1978; 11(1)
20. Grimwood K, Anderson VA, Bond L, et al. Adverse outcomes of bacterial meningitis in school-age survivors. Pediatrics 1995;95:646.
21. McIntyre PB, Berkey CS, King SM, et al. Dexamethasone as adjunctive therapy inbacterial meningitis. A meta-analysis of randomized clinical trials since 1988. JAMA 1997; 278:925.
22. Basil A. Childhood sensorineural hearing loss in consanguineous marriages. J Audiol Med 1994;3:151-9.
23. Naem Z, Newton V. Prevalence of sensorineural hearing loss in Asian children. Br J Audiol 1996;30:332-9.
24. Armitage IM, Burke JP, Buffin JT. Visual impairment in severe and profound sensorineural deafness. Arch Dis Child 1995;75:53-6.
25. Young NM, Mets MB, Hain TC. Early diagnosis of Usher syndrome in infants and children. Am J Otol 1996;17: 30-4.
26. Tomaski SM, Grundfast KM. A stepwise approach to the diagnosis and treatment of hereditary hearing loss. Pediatr Clin N Am 1999; 46(l):35-47.
27. Sheikha A, Kameswaran M, Okafor BC, al-Saigh AA. Otological manifestations of thalassaemia intermedia: Evidence of temporal bone involvement and report of a unique cholesteatoma-like lesion. J Laryngol Otol 1992;106(4):316-21.
28. Savundra P. Management of sickle cell disease. Hearing loss may occur after sickle cell crises, especially in children. Brit Med J 1998;316(7135):935-6.
29. Heath KE, Campos-Barros A, Toren A, Rozenfeld-Granot G, Carlsson LE, Savige J, et al. Nonmuscle myosin heavy chain iia mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-hegglin anomaly and fechtner, sebastian, epstein, and alport-like syndromes. Am J Hum Genet 2001;69(5): 1033-45.
30. Toren A, Rozenfeld-Granot G, Rocca B, Epstein CJ, Amariglio N, Laghi F, et al. Autosomal-dominant giant platelet syndromes: A hint of the same genetic defect as in Fechtner syndrome owing to a similar genetic linkage to chromosome 22q11 22qll-13. Blood 2000;96(10):3447-51
31. Bellman SC, Davies A, Fuggle PW, Grant DB, Smith I. Mild impairment of neurootological function early treated congenital hypothyroidism. Arch Dis Child 1997;17(14):411-22
32. Everett LA, Glaser B, Beck JC, Idol J, Adawi F, Hazani E, et al. Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nat Genet 1997;17(4):411-22.
33. Scott DA, Wang R, Kreman TM, Sheffield VC, Karnishki LP. The Pendred syndrome geneencodes a chloride-iodide transport protein. Nat Genet 1999;20:440-3.
34. Reardon W, Coffey R, Chowdhury T, Grossman A, Jan H, Britton K, et al. Prevalence, age of onset, and natural history of thyroid disease in Pendred syndrome. J Med Genet1999;36(8):595-8.
35. Reardon W, Coffey R, Phelps PD, Luxon LM, Stephens D, Kendall-Taylor P, et al. Pendred syndrome 100 years of under ascertainment? QJM 1997; 90(7):443-7.
36. Luetje CM, Berliner KI. Plasmapheresis in autoimmune inner ear disease: Long-term follow-up. Am J Otol 1997; 18(5):572-6.
37. Papsin BC, Vellodi A, Bailey CM, Ratcliffe PC, Leighton SE. Otologic and laryngologic manifestations of mucopolysaccharidoses after bone marrow transplantation. Otolaryngol Head Neck Surg 1998; 118(1):30-6.
38. Brown MT, Cunningham MJ, Ingelfinger JR, Becker AN. Progressive sensorineural hearing loss in association with distal renal tubular acidosis. Arch Otolaryngol Head Neck Surg 1993; 119(4):458-60.
39. Priori SG, Napolitano C, Schwartz PJ. Low penetrance in the long-QT syndrome: Clinical impact. Circulation 1999;99(4):529-33.
40. Zalzal GH, Shott SR, Towbin R, Cotton RT. Value of CT scan in the diagnosis of temporal bone diseases in children. Laryngoscope 1986;96:27-32.
41. Bamiou D, Phelps P, Sirimanna T. Temporal bone computed tomography findings in bilateral sensorineural hearing loss. Arch Dis Child 2000;82(3):257-60.
42. Shusterman D, Handler SD, Marsh RR, Bilaniuk L, Tom LWC. Usefulness of computed tomographic scan in the evaluation of sensorineural hearing loss in children. Arch Otolaryngol Head Neck Surg 1992; 118:501-3.
43. Woolford TJ, Roberts GR, Hartley C, Ramsden RT. Etiology of hearing loss and cochlear computed tomography: Findings in preimplant assessment. Ann Otol Rhinol Laryngol 1995; 166(suppl):201-6.
44. Park AH, Kou B, Hotaling A, Azar-Kia B, Leonetti J, Papsin B. Clinical course of pediatric congenital inner ear malformations. Laryngoscope 2000; 110((10, pt 1)): 1715-9.
45. Antonelli PJ, Varela AE, Mancuso AA. Diagnostic yield of high-resolution computed tomography for pediatric sensorineural hearing loss. Laryngoscope 1999;109(10):1642-7.
46. Phelps PD, Coffey RA, Trembath RC, Luxon LM, Grossman AB, Britton KE, et al. Radiological malformations of the ear in Pendred syndrome. Clin Radiol 1998;53(4):268-73.
47. Chen A, Francis M, Ni L, Cremers CW, Kimberling WJ, Sato Y, et al. Phenotypic manifestations of branchio-oto-renal syndrome. Am J Med Genet 1995;58(4):365-70.
48. Morgan D, Bailey M, Phelps P, Bellman S, Grace A, Wyse R. Ear-nose-throat abnormalities in the CHARGE association. Arch Otolaryngol Head Neck Surg 1993;119(l):49-54.
49. Gray RF, Ray J, Baguley DM, Vanat Z, Begg J, Phelps PD. Cochlear implant failure due to unexpected absence of the eighth nerve: A cautionary tale. J Laryngol Otol 1998;112(7):646-9.
50. Kelsell DP, Dunlop J, Stevens HP, Lench NJ, Liang JN, Parry G, Mueller RF, Leigh IM. Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature 1997;387(6628):80-3.
51. Denoyelle F, Weil D, Maw MA, Wilcox SA, Lench NJ, Allen-Powell DR, et al. Prelingual deafness: High prevalence of a 30delG 30deIG mutation in the connexin 26 gene. Hum Mol Genet 1997;6(12):2173-7.
52. Green GE, Scott DA, McDonald JM, Woodworth GG, Sheffield VC, Smith RJ. Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness. JAMA 1999;281(23):2211-6.
53. Zelante L, Gasparini P, Estivill X, Melchionda S, D'Agruma L, Govea N, et al. Connexin26 mutations associated with the most common form of non-syndromic neuro-sensory autosomal recessive deafness (DFNBI) in Mediterraneans. Hum Mol Genet 1997; 6(9):1605-9.
54. Lench N, Houseman M, Newton V, Van Camp G, Mueller R. Connexin-26 mutations in sporadic non-syndromal sensorineural deafness. Lancet 1998;351(9100):415.
55. Kenna MA, Wu BL, Cotanche DA, Korf BR, Rehm HL. Connexin 26 studies in patients with sensorineural hearing loss. Arch Otolaryngol Head Neck Surg 2001;127(9):1037-42.
56. Morell RJ, Kim HJ, Hood LJ, Goforth L, Friderici K, Fisher R, et al. Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness. N Engl J Med 1998;339(21):1500-5.
57. Abe S, Usami S, Shinkawa H, Kelley PM, Kimberling WJ. Prevalent connexin 26 gene (GJB2) mutations in Japanese. J Med Genet 2000; 37(1):41
58. Prasad S, Cucci RA, Green GE, Smith RJ. Genetic testing for hereditary hearing loss: Connexin 26 (GJB2) allele variants and two novel deafness-causing mutations (R32C and 645-648delTAGA). Hum Mutat 2000;16(6):502-8.