Diagnóstico etiológico de la sordera infantil: recomendaciones de la CODEPEH

Acta Otorrinolaringológica Española - Tập 68 - Trang 43-55 - 2017
Faustino Núñez-Batalla1, Carmen Jáudenes-Casaubón1, Jose Miguel Sequí-Canet1, Ana Vivanco-Allende1, Jose Zubicaray-Ugarteche1, Rubén Cabanillas-Farpón2
1Comisión para la Detección Precoz de la Hipoacusia (CODEPEH), Madrid, España
2Instituto de Medicina Oncológica y Molecular de Asturias (IMOMA), Oviedo, España

Tài liệu tham khảo

2007, Year 2007 position statement: Principles and guidelines for early hearing detection and intervention programs, Pediatrics, 120, 898, 10.1542/peds.2007-2333 Kochhar, 2007, Clinical aspects of hereditary hearing loss, Genet Med., 9, 393, 10.1097/GIM.0b013e3180980bd0 Cabanillas Farpón, 2012, Hipoacusias hereditarias: asesoramiento genético, Acta Otorrinolaringol Esp., 63, 218, 10.1016/j.otorri.2011.02.006 Declau, 2008, Etiologic and audiologic evaluations after universal neonatal hearing screening: Analysis of 170 referred neonates, Pediatrics, 121, 1119, 10.1542/peds.2007-1479 Rangan, 2012, Deafness in children: A national survey of aetiological investigations, BMJ Open, 2, e001174, 10.1136/bmjopen-2012-001174 Alford, 2014, American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss, Genet Med, 16, 347, 10.1038/gim.2014.2 Dyer, 1998, Teratogenic hearing loss: A clinical perspective, Am J Otol., 19, 671 Badia Barnusell, 2014, Infecciones congénitas, Pediatr Integral, 18, 356 Park, 2014, A diagnostic paradigm including cytomegalovirus testing for idiopathic pediatric sensorineural hearing loss, Laryngoscope., 124, 2624, 10.1002/lary.24752 Goderis, 2014, Hearing loss and congenital CMV infection: A systematic review, Pediatrics, 134, 972, 10.1542/peds.2014-1173 Botet, 2015, Cribado universal de infección por citomegalovirus en prematuros de menos de 1.500 g, An Pediatr, 83, 69, 10.1016/j.anpedi.2015.03.007 Gunkel, 2014, Urine is superior to saliva when screening for postnatal CMV infections in preterm infants, J Clin Virol., 61, 61, 10.1016/j.jcv.2014.06.002 Ross, 2015, Urine collection method for the diagnosis of congenital cytomegalovirus infection, Pediatr Infect Dis J., 34, 903, 10.1097/INF.0000000000000757 Cardoso, 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, 10.1590/0037-8682-0200-2014 Boppana, 2010, Dried blood spot real-time polymerase chain reaction assays to screen newborns for congenital cytomegalovirus infection, JAMA., 303, 1375, 10.1001/jama.2010.423 Koontz, 2015, Evaluation of DNA extraction methods for the detection of Cytomegalovirus in dried blood spots, J Clin Virol., 66, 95, 10.1016/j.jcv.2015.03.015 Dahle, 1988, Audiological findings in children with neonatal herpes, Ear Hear., 9, 256, 10.1097/00003446-198810000-00005 Cohen, 2014, Viral causes of hearing loss: A review for hearing health professionals, Trends Hear., 18, 1 Pickett, 1999, Clinical evaluation of the hearing-impaired infant, Otolaryngol Clin North Am., 32, 1019, 10.1016/S0030-6665(05)70192-4 Lin, 2011, Comprehensive diagnostic battery for evaluating sensorineural hearing loss in children, Otol Neurotol., 32, 259, 10.1097/MAO.0b013e31820160fa Robin, 2005, The use of genetic testing in the evaluation of hearing impairment in a child, Curr Opin Pediatr., 17, 709, 10.1097/01.mop.0000181469.56484.5f Sanger, 1975, A rapid method for determining sequences in DNA by primed synthesis with DNA polymerase, J Mol Biol., 94, 441, 10.1016/0022-2836(75)90213-2 Shearer, 2013, Advancing genetic testing for deafness with genomic technology, J Med Genet., 50, 627, 10.1136/jmedgenet-2013-101749 Rehm, 2013, Disease-targeted sequencing: A cornerstone in the clinic, Nat Rev Genet., 14, 295, 10.1038/nrg3463 Jamuar, 2015, Clinical application of next-generation sequencing for Mendelian diseases, Hum Genomics., 9, 10, 10.1186/s40246-015-0031-5 Atik, 2015, Whole-exome sequencing and its impact in hereditary hearing loss, Genet Res (Camb)., 97, e4, 10.1017/S001667231500004X Shearer, 2015, Massively parallel sequencing for genetic diagnosis of hearing loss: The new standard of care, Otolaryngol Head Neck Surg., 153, 175, 10.1177/0194599815591156 Schrauwen, 2013, A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing, Am J Med Genet A., 161A, 145, 10.1002/ajmg.a.35737 Gu, 2015, Genetic testing for sporadic hearing loss using targeted massively parallel sequencing identifies 10 novel mutations, Clin Genet., 87, 588, 10.1111/cge.12431 Brownstein, 2011, Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families, Genome Biol., 12, R89, 10.1186/gb-2011-12-9-r89 Vona, 2014, Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations, Genet Med., 16, 945, 10.1038/gim.2014.65 Cabanillas, 2011, Nestor-Guillermo progeria syndrome: A novel premature aging condition with early onset and chronic development caused by BANF1 mutations, Am J Med Genet A., 155A, 2617, 10.1002/ajmg.a.34249 Green, 2013, ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing, Genet Med., 15, 565, 10.1038/gim.2013.73 Rehm, 2013, ACMG clinical laboratory standards for next-generation sequencing, Genet Med., 15, 733, 10.1038/gim.2013.92 Kenneson, 2002, GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: A HuGE review, Genet Med., 4, 258, 10.1097/00125817-200207000-00004 Lemmerling, 2015 Mafong, 2002, Use of laboratory evaluation and radiologic imaging in the diagnostic evaluation of children with sensorineural hearing loss, Laryngoscope., 112, 1, 10.1097/00005537-200201000-00001 Sando, 1998, Frequency and localization of congenital anomalies of the middle and inner ears: A human temporal bone histopathological study, Int J Pediatric Otorhinolaryngol, 16, 1, 10.1016/0165-5876(88)90095-X Deklerck, 2015, Etiological approach in patients with unidentified hearing loss, Int J Pediatr Otorhinolaryngol., 79, 216, 10.1016/j.ijporl.2014.12.012 Casselman, 1996, Inner ear malformations in patients with sensorineural hearing loss: Detection with gradient-echo (3DFT-CISS) MRI, Neuroradiology, 38, 278, 10.1007/BF00596549 Laury, 2009, Etiology of unilateral neural hearing loss in children, Int J Pediatr Otorhinolaryngol., 73, 417, 10.1016/j.ijporl.2008.11.012 Singh, 2015, Pontine tegmental cap dysplasia: MR evaluation of vestibulocochlear neuropathy, J Neuroimaging., 25, 1038, 10.1111/jon.12209 Palmer, 2009, A prospective, longitudinal study of the impact of GJB2/GJB6 genetic testing on the beliefs and attitudes of parents of deaf and hard-of-hearing infants, Am J Med Genet A., 149A, 1169, 10.1002/ajmg.a.32853 Muller, 2015, New treatment options for hearing loss, Nat Rev Drug Discov., 14, 346, 10.1038/nrd4533 Yu, 2014, Virally expressed connexin26 restores gap junction function in the cochlea of conditional Gjb2 knockout mice, Gene Ther., 21, 71, 10.1038/gt.2013.59 MacLaren, 2014, Retinal gene therapy in patients with choroideremia: Initial findings from a phase 1/2 clinical trial, Lancet., 383, 1129, 10.1016/S0140-6736(13)62117-0 Jacobson, 2015, Improvement and decline in vision with gene therapy in childhood blindness, N Engl J Med., 372, 1920, 10.1056/NEJMoa1412965 Gallo-Teran, 2005, Prevalence of the 35delG mutation in the GJB2 gene, del (GJB6-D13S1830) in the GJB6 gene, Q829X in the OTOF gene and A1555G in the mitochondrial 12S rRNA gene in subjects with non-syndromic sensorineural hearing impairment of congenital/childhood onset, Acta Otorrinolaringol Esp., 56, 463, 10.1016/S0001-6519(05)78649-0 Del Castillo, 2005, A novel deletion involving the connexin-30 gene, del (GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment, J Med Genet., 42, 588, 10.1136/jmg.2004.028324 Behar, 2014, The many faces of sensorineural hearing loss: One founder and two novel mutations affecting one family of mixed Jewish ancestry, Genet Test Mol Biomarkers., 18, 123, 10.1089/gtmb.2013.0328 Lu, 2014, Resolving the genetic heterogeneity of prelingual hearing loss within one family: Performance comparison and application of two targeted next generation sequencing approaches, J Hum Genet., 59, 599, 10.1038/jhg.2014.78 Wei, 2012, Next-generation sequencing identifies a novel compound heterozygous mutation in MYO7A in a Chinese patient with Usher Syndrome 1B, Clin Chim Acta., 413, 1866, 10.1016/j.cca.2012.07.022 Young, 2001, Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1, Hum Mol Genet., 10, 2509, 10.1093/hmg/10.22.2509 Tekin, 2014, Comprehensive genetic testing can save lives in hereditary hearing loss, Clin Genet., 87, 190, 10.1111/cge.12376 Shearer, 2010, Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing, Proc Natl Acad Sci U S A., 107, 21104, 10.1073/pnas.1012989107 Ji, 2014, Combined examination of sequence and copy number variations in human deafness genes improves diagnosis for cases of genetic deafness, BMC Ear Nose Throat Disord., 14, 9, 10.1186/1472-6815-14-9 Shearer, 2014, Copy number variants are a common cause of non-syndromic hearing loss, Genome Med., 6, 37, 10.1186/gm554 Madden, 2007, The influence of mutations in the SLC26A4 gene on the temporal bone in a population with enlarged vestibular aqueduct, Arch Otolaryngol Head Neck Surg., 133, 162, 10.1001/archotol.133.2.162 Chiang, 2004, Congenital and acquired long QT syndrome. Current concepts and management, Cardiol Rev., 12, 222, 10.1097/01.crd.0000123842.42287.cf Karltorp, 2012, Congenital cytomegalovirus infection — a common cause of hearing loss of unknown aetiology, Acta Paediatr., 101, e357, 10.1111/j.1651-2227.2012.02711.x Lim, 2013, Utility of genetic testing for the detection of late-onset hearing loss in neonates, Am J Audiol., 22, 209, 10.1044/1059-0889(2013/12-0078) Alarcón Allen, 2011, Revisión y recomendaciones sobre la prevención, diagnóstico y tratamiento de la infección posnatal por citomegalovirus, An Pediatr (Barc), 74, 52.e1, 10.1016/j.anpedi.2010.05.024 De Vries, 2013, Cytomegalovirus DNA detection in dried blood spots and perilymphatic fluids from pediatric and adult cochlear implant recipients with prelingual deafness, J Clin Virol, 56, 113, 10.1016/j.jcv.2012.10.008 Kohda, 2014, A simple smart amplification assay for the rapid detection of human cytomegalovirus in the urine of neonates, J Virol Methods, 208, 160, 10.1016/j.jviromet.2014.07.034 Choi, 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, 10.1097/INF.0b013e3181af6230 Williams, 2015, First estimates of the potential cost and cost saving of protecting childhood hearing from damage caused by congenital CMV infection, Arch Dis Child Fetal Neonatal Ed., 100, F501, 10.1136/archdischild-2014-306756 Williams, 2014, Feasibility and acceptability of targeted screening for congenital CMV-related hearing loss, Arch Dis Child Fetal Neonatal Ed., 99, F230, 10.1136/archdischild-2013-305276 Kadambari, 2013, Clinically targeted screening for congenital CMV — potential for integration into the National Hearing Screening Programme, Acta Paediatr, 102, 928, 10.1111/apa.12335 Kadambari, 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, 10.1007/s00431-015-2506-8 Barkai, 2014, Universal neonatal cytomegalovirus screening using saliva — report of clinical experience, J Clin Virol, 60, 361, 10.1016/j.jcv.2014.04.024 Cannon, 2014, Universal newborn screening for congenital CMV infection: What is the evidence of potential benefit, Rev Med Virol, 24, 291, 10.1002/rmv.1790 Botet, 2014, Cribado universal de infección por citomegalovirus en prematuros de menos de 1.500g, An Pediatr., 81, 10.1016/j.anpedi.2014.01.011 Kimberlin, 2015, Valganciclovir for symptomatic congenital cytomegalovirus disease, N Engl J Med, 372, 933, 10.1056/NEJMoa1404599 Toumpas, 2014, Congenital cytomegalovirus infection is a significant cause of moderate to profound sensorineural hearing loss in Queensland children, J Paediatr Child Health. Smiechura, 2014, Congenital and acquired cytomegalovirus infection and hearing evaluation in children, Otolaryngol Pol., 68, 303, 10.1016/j.otpol.2014.04.003 Nuñez-Ramos, 2013, Early diagnosis of congenital cytomegalovirus infection: Lost opportunities, Enferm Infecc Microbiol Clin., 31, 93, 10.1016/j.eimc.2012.06.012 Wang, 2014, Progress on human cytomegalovirus vaccines for prevention of congenital infection and disease, Curr Opin Virol., 6, 13, 10.1016/j.coviro.2014.02.004 Schleiss, 2013, Developing a vaccine against congenital cytomegalovirus (CMV) infection: What have we learned from animal models? Where should we go next?, Future Virol, 8, 1161, 10.2217/fvl.13.106 Brenner, 2001, Estimated risks of radiation-induced fatal cancer from pediatric CT, Am J Roentgenol., 176, 289, 10.2214/ajr.176.2.1760289 Thomas, 2006, Assessment of radiation dose awareness among pediatricians, Pediatr Radiol., 36, 823, 10.1007/s00247-006-0170-x Lee, 2004, Diagnostic CT scans: Assessment of patient, physician, and radiologist awareness of radiation dose and possible risks, Radiology., 231, 393, 10.1148/radiol.2312030767 Coté, 2006, Guidelines for monitoring and management of pediatric patients during and after sedation for diagnostic and therapeutic procedures: An update, Pediatrics., 118, 2587, 10.1542/peds.2006-2780