Actualización de los programas de detección precoz de la sordera infantilrecomendaciones CODEPEH 2018 (Nivel 1: Detección)

Références bibliographiques

• Alford, R. L. (2014): “American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss”. Genet Med., 16 (4): 347-355.
• Amir, J. et al. (2014): “Treatment of late-onset hearing loss in infants with congenital cytomegalovirus infection”. Clin Pediatr, 53: 444-448.
• Amir, J. et al. (2010): “Treatment of symptomatic congenital cytomegalovirus infection with intravenous ganciclovir followed by long-term oral valganciclovir”. Eur J Pediatr, 169: 1061-1067.
• Ari-Even Roth, D. et al. (2017): “Contribution of targeted saliva screening for congenital CMV-related hearing loss in newborns who fail hearing screening” Arch Dis Child Fetal Neonatal Ed, 102: F519-524.
• Badia, J. (2014): “Infecciones congénitas”. Pediatr Integral, 18: 356-366.
• Baquero, F. et al. (2009): “Documento de consenso de la Sociedad Española de Infectologia Pediátrica sobre el diagnóstico y el tratamiento de la infección congénita por citomegalovirus”. An Pediatr (Barc), 71: 535-547.
• Barkai, G. et al. (2014): “Universal neonatal cytomegalovirus screening using saliva. Report of clinical experience”. J ClinVirol, 60: 361-366.
• Bartlett, A. W. et al. (2017): “Hearing and neuro developmental outcomes for children with asymptomatic congenital cytomegalovirus infection: A systematic review”. Rev Med Virol, 27: e1938.
• Benito, J. I. (2013): “Hipoacusia: identificación e intervención precoces”. Pediatr Integral, 17: 330-342.
• Bilavsky, E. et al. (2016): “Hearing outcome of infants with congenital cytomegalovirus and hearing impairment”. Arch Dis Child, 101: 433-438.
• Bonfils, P. et al. (1990): “Evoked otoacoustic emissions in newborn hearing screening”. Laryngoscope, 100: 186-189.
• Boppana, S. B. et al. (2011): “National Institute on Deafness and Other Communication Disorders CHIMES Study. Saliva polymerase-chain-reaction assay for cytomegalovirus screening in newborns”. N Engl J Med, 364: 2111-2118.
• Boppana, S. B. et al. (2010): “Dried blood spot real-time polymerase chain reaction assays to screen newborns for congenital cytomegalovirus infection”. JAMA, 303: 1375-1382.
• Botet, F. et al. (2015): “Cribado universal de infección por citomegalovirus en prematuros de menos de 1.500 g”. An Pediatr, 83: 69.
• Boudewyns, A. et al. (2016): “Auditory neuropathy spectrum disorder (ANSD) in referrals from neonatal hearing screening at a well-baby clinic”. Eur J Pediatr, 175 (7): 993-1000.
• Bruijnzeel, H. et al. (2016): “A systematic review to define the speech and language benefit of early (<12 Months) pediatric cochlear implantation”. Audiol Neurotol, 21: 113-126.
• Bush, et al. (2017): “Promotion of early pediatric hearing detection through patient navigation: a randomized controlled clinical trial”. Laryngoscope, 127: S1-13.
• Cannon, M. J. et al. (2014): “Universal newborn screening for congenital CMV infection: what is the evidence of potential benefit?”. Rev Med Virol, 24: 291-307
• Cardoso, E. S. et al. (2015): “The use of saliva as a practical and feasible alternative to urine in large-scale screening for congenital cytomegalovirus infection increases inclusion and detection rates”. Rev Soc Bras Med Trop, 48: 206-207.
• Ching, T. Y. C. et al. (2013): “Outcomes of early- and late-identified children at 3 years of age: findings from a prospective population-based study”. Ear Hear, 34: 535-552.
• Choi, K. Y. et al. (2009): “Detection of cytomegalovirus DNA in dried blood spots of Minnesota infants who do not pass newborn hearing screening”. Pediatr Infect Dis J, 28: 1095-1098.
• De Vries, J. J. et al. (2013): “Cytomegalovirus DNA detection in dried blood spots and perilymphatic fluids from pediatric and adult cochlear implant recipients with prelingual deafness”. J ClinVirol, 56: 113-117.
• Del Castillo, I. et al. (2002): “A deletion involving the connexin 30 gene in nonsyndromic hearing impairment”. N Engl J Med, 346 (4): 243-249.
• Del Rosal, T. et al. (2012): “Treatment of symptomatic congenital cytomegalovirus infection beyond the neonatal period”. J ClinVirol, 55: 72-74.
• DesGeorges, J. (2003): “Family perceptions of early hearing, detection, and intervention systems: listening to and learning from families”. Ment Retard Dev Disabil Res Rev, 9: 89-93.
• Diener, M. L. et al. (2017): “Outcomes from a hearingtargeted cytomegalovirus screening program”. Pediatrics, 139: e20160789.
• Duman, K. et al. (2008): “Incidence of auditory neuropathy among the deaf school students”. Int J Pediatr Otorhinolaryngol, 72 (7): 1091-1095.
• Escosa-García, L. et al. (2015): “Cribado de citomegalovirus en prematuros menores de 1.500 g. Comité Científico del Registro Estatal de Infección Congénita por Citomegalovirus”. An Pediatr, 83: 70-71.
• Fang, Y. et al. (2017): “Application of gene detection technique in the antenatal diagnosis of hereditary hearing loss”. Eur Rev Med Pharmacol Sci, 21: 1452-1455.
• Fowler, K. B. y Boppana, S. B. (2018): “Congenital cytomegalovirus infection”. Semin Perinatol, 42: 149-154.
• Fowler, K. B. et al. (2017): “A targeted approach for congenital cytomegalovirus screening within newborn hearing screening”. Pediatrics, 139 (2): e20162128.
• Gantt, S. et al. (2017): “In reference to should infants who fail their newborn hearing screen undergo cytomegalovirus testing?”. Laryngoscope, 128: e267.
• Gao, X. et al. (2018): “Treatment of autosomal dominant hearing loss by in vivo delivery of genome editing agents”. Nature, 553 (7687): 217-221.
• Georgalas, C. et al. (2008): “Screening for hearingloss and middle-ear effusion in school-age children, using transient evokedoto acoustic emissions: a feasibility study”. J Laryngol Otol, 122: 1299-1304.
• Goderis, J. et al. (2016): “Hearing in children with congenital cytomegalovirus infection: results of a longitudinal study”. J Pediatr, 172: 110-115.e2.
• Goderis, J. et al. (2014): “Hearing loss and congenital CMV infection: a systematic review”. Pediatrics, 134: 972-982.
• Gunkel, J. et al. (2014): “Urine is superior to saliva when screening for postnatal CMV infections in preterm infants”. J ClinVirol, 61: 61-64.
• Guoyu, L. et al. (2017): “Detection of congenital cytomegalovirus in newborns using nucleic acid amplification techniques and its public health implications”. Virologica Sinica, 32: 376-386.
• Hao, Z. et al. (2018): “Large scale newborn deafness genetic screening of 142.417 neonates in Wuhan, China”. PLoS One, 13 (4): e0195740.
• Hilditch, C. et al. (2018): “Does screening for congenital cytomegalovirus at birth improve longer term hearing outcomes?”. Arch Dis Child, 103: 988-992.
• Hilgert, N. et al. (2009): “Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?”. Mutat Res, 681:189-196.
• Johnson, J. L. et al. (2005): “A multicenter evaluation of how many infants with permanent hearing loss pass a twostage otoacustic emissions/automated auditory brainstem response newborn hearing protocol”. Pediatrics, 116: 663-672.
• Kadambari, S. et al. (2015): “Evaluating the feasibility of integrating salivary testing for congenital CMV into the Newborn Hearing Screening Programme in the UK”. Eur J Pediatr, 174: 1117-1121.
• Kadambari S, et al. (2013): “Clinically targeted screening for congenital CMV. Potential for integration into the National Hearing Screening Programme”. Acta Paediatr, 102: 928-933.
• Karltorp, E. et al. (2012): “Congenital cytomegalovirus infection: a common cause of hearing loss of unknown aetiology”. Acta Paediatr, 101 (8): e357-362.
• Kennedy, C. R. et al. (2006): “Language ability after early detection of permanent childhood hearing impairment”. N Engl J Med, 354: 2131-2141.
• Kennedy, C. R. et al. (2005): “Universal newborn screening for permanent childhood hearing impairment: an 8-year follow-up of a controlled trial”. Lancet, 366: 660-662.
• Kennedy, C. R. (1999): “Controlled trial of universal neonatal screening for early identification of permanent childhood hearing impairment: coverage, positive predictive value, effect on mothers and incremental yield. Wessex Universal Neonatal Screening Trial Group”. Acta Paediatr Suppl, 88 (432): 73-75.
• Keohane, B. M. et al. (2004): “Clinical evaluation of the vector algorithm for neonatal hearing screening using automated auditory brainstem response”. J Laryngol Otol, 118 (2): 112-116.
• Kim, B. J. et al. (2018): “Characterization of detailed audiological features of cytomegalovirus Infection: a composite cohort study from groups with distinct demographics”. Biomed Res Int, 5: 1-8.
• Kimberlin, D. W. et al. (2015): “National Institute of Allergy and Infectious Diseases Collaborative Antiviral Study Group. Valganciclovir for symptomatic congenital cytomegalovirus disease”. N Engl J Med, 372: 933-943.
• Kimberlin, D. W. et al. (2003): “National Institute of Allergy and Infectious Diseases Collaborative Antiviral Study Group. Effect of ganciclovir therapy on hearing in symptomatic congenital cytomegalovirus disease involving the central nervous system: a randomized, controlled trial”. J Pediatr, 143: 16-25.
• Koontz, D. et al. (2015): “Evaluation of DNA extraction methods for the detection of Cytomegalovirus in dried blood spots”. J ClinVirol, 66: 95-99.
• Korver, A. M. H. et al. (2010): “Newborn hearing screening vs later hearing screening and developmental outcomes in children with permanent childhood hearing impairment”. JAMA, 304: 1701-1708.
• Kummer, P. y Marcrum, S. C. (2018): “Potential benefit of selective CMV testing after failed newborn hearing screening”. Int. J. Neonatal Screen, 4: 20-26.
• Lanzieri, T. M. et al. (2018): “Congenital cytomegalovirus longitudinal study group. hearing trajectory in children with congenital cytomegalovirus infection”. Otolaryngol Head Neck Surg, 158: 736-744.
• Lanzieri, T. M. et al. (2017a): “Long-term outcomes of children with symptomatic congenital cytomegalovirus disease”. J Perinatol, 37:875-880.
• Lanzieri, T. M. et al. (2017b): “Hearing loss in children with asymptomatic congenital cytomegalovirus infection. Congenital Cytomegalovirus Longitudinal Study Group”. Pediatrics, 139 (3): e20162610.
• Lawrence, R. M. (2006): “Cytomegalovirus in human breast milk: risk to the premature infant”. Breastfeed Med, 1: 99-107
• Lim, B. G. et al. (2013): “Utility of genetic testing for the detection of late-onset hearing loss in neonates”. Am J Audiol, 22: 209-215.
• Liu, C. L. et al. (2008): “Evaluating loss to follow-up in newborn hearing screening in Massachusetts”. Pediatrics, 121 (2): e335-343.
• Lim, Y. y Lyall, H. (2017): “Congenital cytomegalovirus. Who, when, what, with and why to treat?”. J Infect, 1: S89-94.
• López, A. S. et al. (2017): “Congenital cytomegalovirus longitudinal study group. Intelligence and Academic Achievement with Asymptomatic Congenital Cytomegalovirus Infection”. Pediatrics, 140 (5): e20171517.
• Lu, C. Y. et al. (2018): “Concurrent hearing, genetic, and cytomegalovirus screening in newborns, Taiwan”. J Pediatr, 199: 144-150.
• Luck, S. E. et al. (2017): “Congenital cytomegalovirus: A european expert consensus statement on diagnosis and management”. Pediatr Infect Dis J, 36: 1205-1213.
• Marsico, C. y Kimberlin, D. W. (2017): “Congenital cytomegalovirus infection: advances and challenges in diagnosis, prevention and treatment”. Ital J Pediatr, 43: 38.
• Meyer, L. et al. (2017): “Analysis of archived newborn dried blood spots (DBS) identifies congenital cytomegalovirus as a major cause of unexplained pediatric sensorineural hearing loss”. Am J Otolaryngol, 38: 565-570.
• Mijares, E. et al. (2015): “Hearing screening using auditory steady state responses obtained by simultaneous airand bone-conduction stimuli”. Acta Otorrinolaringol Esp, 66: 8-15.
• Morant, A. et al. (2014): “Otoemisiones”. En Manrique, M. y Marco, J. (coords.): Audiología, Ponencia Oficial de la Sociedad Española de Otorrinolaringología y Patología Cérvico-Facial. Madrid: CYAN Proyectos Editoriales S.A.
• Moresco, B. L. et al. (2018): “A quiet disease with loud manifestations”. Semin Pediatr Neurol, 26: 88-91.
• Morton, C. C. y Nance, W. E. (2006): “Newborn hearing screening. A silent revolution”. N Engl J Med, 354: 2151- 2164.
• Moteki, H. et al. (2018): “A rational approach to identifying newborns with hearing loss caused by congenital cytomegalovirus infection by dried blood spot screening”. Acta Otolaryngol, 138: 708-712.
• Nance, W. E. et al. (2006): “Importance of congenital cytomegalovirus infections as a cause for pre-lingual hearing loss”. J. Clin. Virol, 35: 221-225.
• Nikolopoulos, T. P. (2015): “Neonatal hearing screening. What we have achieved and what needs to be improved”. Int J Pediatr Otorhinolaryngol, 79: 635-637.
• Nuñez-Ramos, R. et al. (2013): “Early diagnosis of congenital cytomegalovirus infection: lost opportunities”. Enferm Infecc Microbiol Clin, 31: 93-96.
• Park, A. H. et al. (2014): “A diagnostic paradigm including cytomegalovirus testing for idiopathic pediatric sensorineural hearing loss”. Laryngoscope, 124: 2624-2629.
• Peng, Q. et al. (2016): “Concurrent genetic and standard screening for hearing impairment in 9317 southern chinese newborns”. Genet Test Mol Biomarkers, 20: 603-608.
• Pimperton, H. et al. (2017): “Language outcomes in deaf or hard of hearing teenagers who are spoken language users: effects of universal newborn hearing screening and early confirmation”. Ear Hear, 38: 598-610.
• Pimperton, H. et al. (2016): “The impact of universal newborn hearing screening on long-term literacy outcomes: a prospective cohort study”. Arch Dis Child, 101: 9-15.
• Pryor, S. P. et al. (2005): “SLC26A4/PDS genotype phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities”. J Med Genet, 42: 159-165.
• Ravi, R. et al. (2016): “Follow-up in newborn hearing screening. A systematic review”. Intl J Pediatr Otorhinolaryngol, 90: 29-36.
• Rawlinson, W. D. et al. (2018): “Neonates with congenital cytomegalovirus and hearing loss identified via the universal newborn hearing screening program”. J ClinVirol, 102: 110-115.
• Rawlinson, W. D. et al. (2017): “Congenital cytomegalovirus infection in pregnancy and the neonate: Consensus recommendations for prevention, diagnosis, and therapy”. Lancet Infect Dis, 17: e177-188.
• Ross, S. A. et al. (2017): “Newborn dried blood spot polymerase chain reaction to identify infants with congenital cytomegalovirus-associated sensorineural hearing loss”. J Pediatr, 184: 57-61.
• Ross, S. A. et al. (2015): “National Institute on Deafness and Other Communication Disorders CHIMES Study. Urine collection method for the diagnosis of congenital cytomegalovirus infection”. Pediatr Infect Dis, 34: 903-905.
• Schimmenti, L. A. et al. (2011): “Evaluation of newborn screening bloodspot-based genetic testing as second tier screen for bedside newborn hearing screening”. Genet Med, 13: 1006-1010.
• Stehel, E. K. et al. (2008): “Newborn hearing screening and detection of congenital cytomegalovirus infection”. Pediatrics, 121: 970-975.
• Smiechura, M. et al. (2014): “Congenital and acquired cytomegalovirus infection and hearing evaluation in children”. Otolaryngol Pol, 68: 303-307.
• Sun, et al. (2015): “Combined hearing and deafness gene mutation screening of 11,046 Chinese newborns”. Zhonghua Yi Xue Yi ChuanXueZaZhi, 32 (6): 766-770.
• Teek, R. et al. (2013): “Hearing impairment in Estonia: an algorithm to investigate genetic causes in pediatric patients”. Adv Med Sci, 58: 419-428.
• Toumpas, C. J. et al. (2015): “Congenital cytomegalovirus infection is a significant cause of moderate to profound sensorineural hearing loss in Queensland children”. J Paediatr Child Health, 51: 541-544.
• Nikolopoulos, T. P. (2015): “Neonatal hearing screening. What we have achieved and what needs to be improved”. Int J Pediatr Otorhinolaryngol, 79: 635-637.
• Nuñez-Ramos, R. et al. (2013): “Early diagnosis of congenital cytomegalovirus infection: lost opportunities”. Enferm Infecc Microbiol Clin, 31: 93-96.
• Park, A. H. et al. (2014): “A diagnostic paradigm including cytomegalovirus testing for idiopathic pediatric sensorineural hearing loss”. Laryngoscope, 124: 2624-2629.
• Peng, Q. et al. (2016): “Concurrent genetic and standard screening for hearing impairment in 9317 southern chinese newborns”. Genet Test Mol Biomarkers, 20: 603-608.
• Pimperton, H. et al. (2017): “Language outcomes in deaf or hard of hearing teenagers who are spoken language users: effects of universal newborn hearing screening and early confirmation”. Ear Hear, 38: 598-610.
• Pimperton, H. et al. (2016): “The impact of universal newborn hearing screening on long-term literacy outcomes: a prospective cohort study”. Arch Dis Child, 101: 9-15.
• Pryor, S. P. et al. (2005): “SLC26A4/PDS genotype phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities”. J Med Genet, 42: 159-165.
• Ravi, R. et al. (2016): “Follow-up in newborn hearing screening. A systematic review”. Intl J Pediatr Otorhinolaryngol, 90: 29-36.
• Rawlinson, W. D. et al. (2018): “Neonates with congenital cytomegalovirus and hearing loss identified via the universal newborn hearing screening program”. J ClinVirol, 102: 110-115.
• Rawlinson, W. D. et al. (2017): “Congenital cytomegalovirus infection in pregnancy and the neonate: Consensus recommendations for prevention, diagnosis, and therapy”. Lancet Infect Dis, 17: e177-188.
• Ross, S. A. et al. (2017): “Newborn dried blood spot polymerase chain reaction to identify infants with congenital cytomegalovirus-associated sensorineural hearing loss”. J Pediatr, 184: 57-61.
• Ross, S. A. et al. (2015): “National Institute on Deafness and Other Communication Disorders CHIMES Study. Urine collection method for the diagnosis of congenital cytomegalovirus infection”. Pediatr Infect Dis, 34: 903-905.
• Schimmenti, L. A. et al. (2011): “Evaluation of newborn screening bloodspot-based genetic testing as second tier screen for bedside newborn hearing screening”. Genet Med, 13: 1006-1010.
• Stehel, E. K. et al. (2008): “Newborn hearing screening and detection of congenital cytomegalovirus infection”. Pediatrics, 121: 970-975.
• Smiechura, M. et al. (2014): “Congenital and acquired cytomegalovirus infection and hearing evaluation in children”. Otolaryngol Pol, 68: 303-307.
• Sun, et al. (2015): “Combined hearing and deafness gene mutation screening of 11,046 Chinese newborns”. Zhonghua Yi Xue Yi ChuanXueZaZhi, 32 (6): 766-770.
• Teek, R. et al. (2013): “Hearing impairment in Estonia: an algorithm to investigate genetic causes in pediatric patients”. Adv Med Sci, 58: 419-428.
• Toumpas, C. J. et al. (2015): “Congenital cytomegalovirus infection is a significant cause of moderate to profound sensorineural hearing loss in Queensland children”. J Paediatr Child Health, 51: 541-544.