Etiological diagnosis in the hearing impaired newborn: Proposal of a flow chart

被引:23
作者
De Leenheer, E. M. R. [1 ,7 ]
Janssens, S. [2 ]
Padalko, E. [3 ]
Loose, D. [4 ]
Leroy, B. P. [5 ,6 ]
Dhooge, I. J. [1 ,7 ]
机构
[1] Ghent Univ Hosp, Dept Otorhinolaryngol & Head & Neck Surg, B-9000 Ghent, Belgium
[2] Ghent Univ Hosp, Dept Med Genet, B-9000 Ghent, Belgium
[3] Ghent Univ Hosp, Dept Clin Chem Microbiol & Immunol Virol, B-9000 Ghent, Belgium
[4] Ghent Univ Hosp, Dept Otorhinolaryngol & Head & Neck Surg, B-9000 Ghent, Belgium
[5] Ghent Univ Hosp, Dept Ophthalmol, B-9000 Ghent, Belgium
[6] Ghent Univ Hosp, Ctr Med Genet, B-9000 Ghent, Belgium
[7] Univ Ghent, UZGhent, B-9000 Ghent, Belgium
关键词
Congenital; Newborn; Hearing loss; Deafness; Etiology; CONGENITAL CYTOMEGALOVIRUS-INFECTION; ENLARGED VESTIBULAR AQUEDUCT; PENDRED-SYNDROME; UNITED-STATES; INTERVENTION PROGRAMS; GJB2; MUTATIONS; USHER SYNDROME; CHILDREN; DEAFNESS; CONNEXIN-26;
D O I
10.1016/j.ijporl.2010.05.040
中图分类号
R76 [耳鼻咽喉科学];
学科分类号
100213 ;
摘要
Objective: Most industrialized countries have introduced some form of universal newborn hearing screening program. Both identification and rehabilitation of hearing loss in newborns have evolved to an acceptable standard and the need for a standardized etiological protocol is emerging. Methods: Extensive literature search to determine which investigations can help identifying the cause of congenital hearing loss and how to limit extensive testing in these children by taking into account the most prevalent causes. Findings: A stepwise approach to detect the cause of hearing loss in children with congenital sensorineural hearing loss was developed. Conclusion: In general it is advised to first rule out Cx26/Cx30 and infectious causes (cytomegalovirus and, if indicated, toxoplasmosis and rubella), and to preserve more extensive investigations for those children in whom these causes do not explain the hearing loss. (C) 2010 Elsevier Ireland Ltd. All rights reserved.
引用
收藏
页码:27 / 32
页数:6
相关论文
共 53 条
[1]  
*AM AC PED, 2000, 2000 RED BOOK REP CO
[2]   Use of Stored Dried Blood Spots for Retrospective Diagnosis of Congenital CMV [J].
Atkinson, Claire ;
Walter, Simone ;
Sharland, Mike ;
Tookey, Pat ;
Luck, Suzanne ;
Peckham, Catherine ;
Griffithsi, Paul .
JOURNAL OF MEDICAL VIROLOGY, 2009, 81 (08) :1394-1398
[3]   Aetiological investigations of hearing loss in hildhood: a review [J].
Bamiou, DE ;
Macardle, B ;
Bitner-Glindzicz, M ;
Sirimanna, T .
CLINICAL OTOLARYNGOLOGY, 2000, 25 (02) :98-106
[4]   Cytomegalovirus DNA detection in Guthrie cards:: a powerful tool for diagnosing congenital infection [J].
Barbi, M ;
Binda, S ;
Primache, V ;
Caroppo, S ;
Didò, P ;
Guidotti, P ;
Corbetta, C ;
Melotti, D .
JOURNAL OF CLINICAL VIROLOGY, 2000, 17 (03) :159-165
[5]   A systematic review of neonatal toxoplasmosis exposure and sensorineural hearing loss [J].
Brown, Erik D. ;
Chau, Justin K. ;
Atashband, Shahnaz ;
Westerberg, Brian D. ;
Kozak, Frederick K. .
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, 2009, 73 (05) :707-711
[6]   Year 2007 position statement: Principles and guidelines for early hearing detection and intervention programs [J].
Busa, Jackie ;
Harrison, Judy ;
Chappell, Jodie ;
Yoshinaga-Itano, Christine ;
Grimes, Alison ;
Brookhouser, Patrick E. ;
Epstein, Stephen ;
Mehl, Albert ;
Vohr, Betty ;
Gravel, Judith ;
Roush, Jack ;
Widen, Judith ;
Benedict, Beth S. ;
Scoggins, Bobbie ;
King, Michelle ;
Pippins, Linda ;
Savage, David H. .
PEDIATRICS, 2007, 120 (04) :898-921
[7]   A systematic review of pediatric sensorineural hearing loss in congenital syphilis [J].
Chau, Justin ;
Atashband, Shahnaz ;
Chang, Estelle ;
Westerberg, Brian D. ;
Kozak, Frederick K. .
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, 2009, 73 (06) :787-792
[8]  
Cohn ES, 1999, AM J MED GENET, V89, P130, DOI 10.1002/(SICI)1096-8628(19990924)89:3<130::AID-AJMG3>3.3.CO
[9]  
2-D
[10]   Deafness genes and their diagnostic applications [J].
Cryns, K ;
Van Camp, G .
AUDIOLOGY AND NEURO-OTOLOGY, 2004, 9 (01) :2-22