Guidelines for aetiological investigation into unilateral permanent childhood hearing impairment

References

• MacArdle B, Bitner-Glindzicz M. Investigation of the child with permanent hearing impairment. Arch Dis Child Educ Pract Ed. 2010;95:14–23. [Review]
   PubMed Web of Science ®Google Scholar
• British Association of Audiovestibular Physicians manual for producing guidelines, Clinical Standards Subcommittee BAAP. BAAP website; 2013.
   Google Scholar
• Quality Standards in the NHS Newborn Hearing Screening Programme 2010; [cited 4 Apr 2016]. Available from: http://hearing.screening.nhs.uk/standardsandprotocols#fileid10752.
   Google Scholar
• Woolf SH, Grol R, Hutchinson A, et al. Clinical guidelines: potential benefits, limitations, and harms of clinical guidelines. BMJ. 1999;318:527–530.
   PubMed Web of Science ®Google Scholar
• Harbour R, Miller J. A new system for grading recommendations in evidence based guidelines. BMJ. 2001;323:334–336.
   PubMed Web of Science ®Google Scholar
• General Medical Council. Good Medical Practice London GMC. 2013; [cited 29 Apr 2014]. Available from: http://www.gmc-uk.org/guidance/good_medical_practice.asp.
   Google Scholar
• Hampton JR, Harrison MJG, Mitchell JRA, et al. Relative contributions of history-taking, physical examination, and laboratory investigation to diagnosis and management of medical outpatients. Br Med J. 1975;2:486–489. [Level 3]
   PubMed Web of Science ®Google Scholar
• Paley L, Zornitski T, Cohen J, et al. Utility of clinical examination in the diagnosis of emergency department patients admitted to the department of medicine of an academic hospital. Arch Intern Med. 2011;171:1393–1400.
   PubMedGoogle Scholar
• Yield of investigations from the BAAP National Audit, 2013. Unpublished data, BAAP.
   Google Scholar
• Mafong DD, Shin EJ, Lalwani AK. Use of laboratory and radiologic imaging in the diagnostic evaluation of children with sensorineural hearing loss. Laryngoscope. 2002;112:1–7. [Level 3]
   PubMed Web of Science ®Google Scholar
• Yelverton JC, Dominguez LM, Chapman DA, et al. Risk factors associated with unilateral hearing loss. JAMA Otolaryngol Head Neck Surg. 2013;139:59–63. [Level 2++]
   PubMed Web of Science ®Google Scholar
• Ratnayake S, Mac Ardle B, Harrop-Griffiths K. Permanent unilateral deafness identified by newborn hearing screening: yield of aetiological medical investigations and the association with risk factors, audiological profile and stability of hearing loss. Arch Dis Child. 2011;96:A33. [Level 2++]
   Google Scholar
• Stephens D. Audiometric investigation of first-degree relatives. In: Martini A, Mazzoli M, Stephens, D, Read A, editors. Definitions, protocols & guidelines in genetic hearing impairment. London: Whurr Publishers; 2001. p. 32–33.
   Google Scholar
• Stephens D, Meredith R, Sirimanna T, et al. Application of the Audioscan in the detection of carriers of genetic hearing loss. Audiology. 1995;34:91–97. [Level 2−]
   PubMedGoogle Scholar
• Lina‐Granade G, Collet L, Morgon A. Physiopathological investigations in a family with a history of unilateral hereditary deafness. Acta Otolaryngol. 1995;115:196–201. [Level 2−]
   PubMed Web of Science ®Google Scholar
• Boppana SB, Ross SA, Shimamura M, et al. Saliva polymerase-chain-reaction assay for cytomegalovirus screening in newborns. N Engl J Med. 2011;364:2111–2118. [Level 2+/ 2++]
   PubMed Web of Science ®Google Scholar
• Boppana SB, Ross SA, Novak Z, et al. Dried blood spot real-time polymerase chain reaction assays to screen newborns for congenital cytomegalovirus infection. JAMA. 2010;303:1375–1382. [Level 2+/ 2++]
   PubMed Web of Science ®Google Scholar
• Barbi M, Binda S, Primache V, et al. Cytomegalovirus DNA detection in Guthrie cards: a powerful tool for diagnosing congenital infection. J Clin Virol. 2000;17:159–165. [Level 2+/ 2++]
   PubMed Web of Science ®Google Scholar
• Williams EJ, Kadambari S, Berrington JE, et al. Feasibility and acceptability of targeted screening for congenital CMV-related hearing loss. Arch Dis Child Fetal Neonatal Ed. 2014;99:F230–F236.
   PubMed Web of Science ®Google Scholar
• de Vries JJ, van der Eijk AA, Wolthers KC, et al. Real time PCR versus viral culture on urine as a gold standard in the diagnosis of congenital cytomegalovirus infection. J Clin Virol. 2012;53:167–170.
   PubMed Web of Science ®Google Scholar
• Atkinson C, Walter S, Sharland M, et al. Use of stored dried blood spots for retrospective diagnosis of congenital CMV. J Med Virol. 2009;81:1394–1398. [Level 2-]
   PubMed Web of Science ®Google Scholar
• Tagawa M, Tanaka H, Moriuchi M, et al. Retrospective diagnosis of congenital cytomegalovirus infection at a school for the deaf by using preserved dried umbilical cord. J Pediatr. 2009;155:749–751. [Level 2-]
   PubMed Web of Science ®Google Scholar
• Enders G, Daiminger A, Bäder U, et al. The value of CMV IgG avidity and immunoblot for timing the onset of primary CMV infection in pregnancy. J Clin Virol. 2013;56:102–107. [Level 2+]
   PubMed Web of Science ®Google Scholar
• Misono S, Sie KC, Weiss NS, et al. Congenital cytomegalovirus infection in pediatric hearing loss. Arch Otolaryngol Head Neck Surg. 2011;137:47–53.
   PubMedGoogle Scholar
• Clinical Virology Network Guidelines. Unpublished data. Available from: http://www.clinicalvirology.org/guidelines/ [Guideline]
   Google Scholar
• Declau F, Boudewyns A, Van den Ende J, et al. Etiologic and audiologic evaluations after universal neonatal hearing screening: analysis of 170 referred neonates. Pediatrics. 2008;121:1119–1126. [Level 2+]
   PubMed Web of Science ®Google Scholar
• Wiley S, Arjmand E, Jareenmeinzen-Derr, et al. Findings from multidisciplinary evaluation of children with permanent hearing loss. Int J Pediatr Otorhinolaryngol. 2011;75:1040–1044.
   PubMed Web of Science ®Google Scholar
• Haffey T, Fowler N, Anne S. Evaluation of unilateral sensorineural hearing loss in the pediatric patient. Int J Pediatr Otorhinolaryngol. 2013;77:955–958. [Level 3]
   PubMed Web of Science ®Google Scholar
• Bamiou DE, Savy L, O’Mahoney C, et al. Unilateral sensorineural hearing loss and its aetiology in childhood: the contribution of computerised tomography in aetiological diagnosis and management. Int J Pediatr Otorhinolaryngol. 1999;51:91–99. [Level 3]
   PubMed Web of Science ®Google Scholar
• Licameli G, Kenna MA. Is computed tomography (CT) or magnetic resonance imaging (MRI) more useful in the evaluation of pediatric sensorineural hearing loss? Laryngoscope. 2010;120:2358–2359. [Level 2+]
   PubMed Web of Science ®Google Scholar
• Holman M, Schmitt WR, Carlson ML, et al. Pediatric cerebellopontine angle and internal auditory canal tumors: clinical article. J Neurosurg Pediatr. 2013;12:317–324. [Level 2+]
   PubMed Web of Science ®Google Scholar
• Vrabec JT, Lin JW. Inner ear anomalies in congenital aural atresia. Otol Neurotol. 2010;31:1421–1426. [Level 2+]
   PubMed Web of Science ®Google Scholar
• Yang J, Li Y. Constitute, imaging and auditory characteristics of pediatric patients with congenital malformations of inner ear in sensorineural hearing loss. Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2011;25:1–5. [Level 2+]
   PubMedGoogle Scholar
• Song JJ, Choi HG, Oh SH, et al. Unilateral sensorineural hearing loss in children: the importance of temporal bone computed tomography and audiometric follow-up. Otol Neurotol. 2009;30:604–608. [Level 2+]
   PubMed Web of Science ®Google Scholar
• McClay JE, Booth TN, Parry DA, et al. Evaluation of pediatric sensorineural hearing loss with magnetic resonance imaging. Arch Otolaryngol Head Neck Surg. 2008;134:945–952. [Level 2++/2+]
   PubMed Web of Science ®Google Scholar
• Laury AM, Casey S, McKay S, et al. Etiology of unilateral neural hearing loss in children. Int J Pediatr Otorhinolaryngol. 2009;73:417–427. [Level 2+]
   PubMed Web of Science ®Google Scholar
• Taiji H, Morimoto N, Matsunaga T. Unilateral cochlear nerve hypoplasia in children with mild to moderate hearing loss. Acta Otolaryngol. 2012;132:1160–1167. [Level 3]
   PubMed Web of Science ®Google Scholar
• Simons JP, Ruscetta MN, Chi DH. Sensorineural hearing impairment in children with Chiari I malformation. Ann Otol Rhinol Laryngol. 2008;117:443–447. [Level 2+]
   PubMed Web of Science ®Google Scholar
• Ghogomu N, Umansky A, Lieu JE. Epidemiology of unilateral sensorineural hearing loss with universal newborn hearing screening. Laryngoscope. 2014;124:295–300.
   PubMed Web of Science ®Google Scholar
• Nikolopoulos TP, Lioumi D, Stamataki S, et al. Evidence-based overview of ophthalmic disorders in deaf children: a literature update. Otol Neurotol. 2006;27:S1–S24. [level 2++]
   Web of Science ®Google Scholar
• Sharma A, Ruscetta MN, Chi DH. Ophthalmologic findings in children with sensorineural hearing loss. Arch Otolaryngol Head Neck Surg. 2009;135:119–123. [Level 2+]
   PubMedGoogle Scholar
• Quality Standards in Vision Care for Deaf Children and Young People. Guidelines for professionals. (NDCS and SENSE 2009).
   Google Scholar
• Brown ED, Chau JK, Atashband S, et al. A systematic review of neonatal toxoplasmosis exposure and sensorineural hearing loss. Int J Pediatr Otorhinolaryngol. 2009;73:707–711. [Level 2++]
   PubMed Web of Science ®Google Scholar
• de Jong EP, Vossen AC, Walther FJ. How to use… neonatal TORCH testing. Arch Dis Child Educ Pract Ed. 2013;98:93–98. [Review]
   PubMed Web of Science ®Google Scholar
• Sánchez PJ, Wendel GD, Norgard MV. Congenital syphilis associated with negative results of maternal serologic tests at delivery. Am J Dis Child. 1991;145:967–969. [Review]
   PubMedGoogle Scholar
• Rawstron S, Mehta S, Bromberg K. Evaluation of a Treponema pallidum-specific IgM enzyme immunoassay and Treponema pallidum western blot antibody detection in the diagnosis of maternal and congenital syphilis. Sex Transm Dis. 2004;31:123–126. [Level 3]
   PubMed Web of Science ®Google Scholar
• Torre P, Zeldow B, Hoffman HJ, et al. Hearing loss in perinatally HIV-infected and HIV-exposed but uninfected children and adolescents. Pediatr Infect Dis J. 2012;31:835–841. [Level 2-?]
   PubMed Web of Science ®Google Scholar
• Palacios GC, Montalvo MS, Fraire MI, et al. Audiologic and vestibular findings in a sample of human immunodeficiency virus type-1-infected Mexican children under highly active antiretroviral therapy. Int J Pediatr Otorhinolaryngol. 2008;72:1671–1681. [Level 2+]
   PubMed Web of Science ®Google Scholar
• Lucassen A, Hall A. Consent and confidentiality in clinical genetic practice: guidance on genetic testing and sharing genetic information. A report of the Joint Committee. Clin Med (Lond). 2012;12:5–6. [Guideline]
   PubMed Web of Science ®Google Scholar
• Lalwani AK, Mhatre AN, San Agustin TB, et al. Genotype-phenotype correlations in type 1 Waardenburg syndrome. Laryngoscope. 1996;106:895–902. [Level 3]
   PubMed Web of Science ®Google Scholar
• Tuysuz B, Collin A, Arapoğlu M, et al. Clinical variability of Waardenburg-Shah syndrome in patients with proximal 13q deletion syndrome including the endothelin-B receptor locus. Am J Med Genet A. 2009;149A:2290–2295.
   PubMed Web of Science ®Google Scholar
• Lindau TA, Cardoso AC, Rossi NF, et al. Anatomical changes and audiological profile in Branchio-oto-renal syndrome: a literature review. Int Arch Otorhinolaryngol. 2014;18:68–76.
   PubMedGoogle Scholar
• Rosa RF, Silvia AP, Goetze TB, et al. Ear abnormalities in patients with oculo-auriculo vertebral spectrum (Goldenhar syndrome). Braz J Otorhinolaryngol. 2011;77:455–456.
   PubMed Web of Science ®Google Scholar
• Chattaraj P, Reimold F, Muskett J, et al. Use of SLC26A4 mutation testing for unilateral enlargement of the vestibular aqueduct. JAMA Otolaryngol Head Neck Surg. 2013;139:907–913. [Level 2+]
   PubMed Web of Science ®Google Scholar
• Kenna M, Feldman H, Neault M, et al. Audiologic phenotype and progression in GJB2 (Connexin 26) hearing loss. Arch Otolaryngol Head Neck Surg. 2010;136:81–87. [Level 2+]
   PubMedGoogle Scholar
• Ballana E, Ventayol M, Rabionet R, et al. Connexins and deafness Homepage; [cited 27 Jul 2016]. Available from: http://www.crg.es/deafness.
   Google Scholar
• Kessell D, Dunlop J, Stevens HP, et al. Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature. 1997;387:80–83. [Level 3]
   PubMed Web of Science ®Google Scholar
• Dodson K, Georgolios A, Barr N, et al. Etiology of unilateral hearing loss in a national hereditary deafness repository. Am J Otolaryngol. 2012;33:590–594.
   PubMed Web of Science ®Google Scholar
• Preciado D, Lawson L, Madden C, et al. Improved diagnostic effectiveness with a sequential diagnostic paradigm in idiopathic pediatric sensorineural hearing loss. Otol Neurotol. 2005;26:610–615. [Level 2+]
   PubMed Web of Science ®Google Scholar
• Shearer A, DeLuca A, Hildebrand M, et al. Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing. Proc Natl Acad Sci USA. 2010;107:21104–21109. [Level 3]
   PubMed Web of Science ®Google Scholar
• Wang R, Earl D, Ruder RO, et al. Syndromic ear anomalies and renal ultrasounds. Pediatrics. 2001;108:E32. [Level 2-]
   PubMed Web of Science ®Google Scholar
• Bogazzi F, Russo D, Raggi F, et al. Mutations in the SLC26A4 (pendrin) gene in patients with sensorineural deafness and enlarged vestibular aqueduct. J Endocrinol Invest. 2004;27:430–435. [Level 2-]
   PubMed Web of Science ®Google Scholar
• Iwasaki S, Tsukamoto K, Usami S, et al. Association of SLC26A4 mutations with clinical features and thyroid function in deaf infants with enlarged vestibular aqueduct. J Hum Genet. 2006;51:805–810. [Level 2-?]
   PubMed Web of Science ®Google Scholar
• Reddy M, Satyanarayana V, Hemabindu L, et al. Immunological studies in children with hearing impairment. J Indian Med Assoc. 2005;103:520–521. [Level 2- to 3]
   PubMedGoogle Scholar
• Agrup C, Luxon L. Immune-mediated inner-ear disorders in neuro-otology. Curr Opin Neurol. 2006;19:26–32. [Review article]
   PubMed Web of Science ®Google Scholar
• Raglan E, Radomskij P, Veness J, et al. An audio-vestibular study of 128 children presenting to a specialised paediatric audio-vestibular clinic: should every child with hearing impairment have vestibular function assessed? Audiol Med. 2009;7:143–147. [Level 2- to 3]
   Google Scholar
• De Kegel A, Maes L, Baetens T, et al. The influence of a vestibular dysfunction on the motor development of hearing-impaired children. Laryngoscope. 2012;122:2837–2843. [Level 3]
   PubMed Web of Science ®Google Scholar