Diagnóstico etiológico de la sordera infantilRecomendaciones CODEPEH 2015

Referencias bibliográficas

• Alarcón, A. y Baquero-Artigao, F. (2011): “Revisión y recomendaciones sobre la prevención, diagnóstico y tratamiento de la infección posnatal por citomegalovirus”. Anales de Pediatría, 74: 52.e1-52.e13.
• Alford, R.L. et al. (2014): “ACMG Working Group on Update of Genetics Evaluation Guidelines for the Etiologic Diagnosis of Congenital Hearing Loss; Professional Practice and Guidelines Committee. American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss”. Genet Med, 16: 347-355.
• American Academy of Pediatrics et al. (2006): “Guidelines for Monitoring and Management of Pediatric Patients During and After Sedation for Diagnostic and Therapeutic Procedures”. Pediatrics, 118 (6): 2587-2602. Reaffirmed March 2011.
• Atik, T. et al. (2015): “M. Whole-exome sequencing and its impact in hereditary hearing loss”. Genet Res (Camb), 97: e4.
• Badia, J. et al. (2014): “Infecciones congénitas”. Pediatr Integral, 18: 356-366.
• Barkai, G. et al. (2014): “Universal neonatal cytomegalovirus screening using saliva - report of clinical experience”. J Clin Virol, 60: 361-366.
• Behar, D.M. et al. (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: 123-126.
• Bockmühl, U. et al. (2001): “Visualization of inner ear displasias in patients with sensorineural hearing loss”. Acta Radiológica, 42: 574-581.
• 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”. Anales de Pediatría, 83: 69.
• Botet, F. et al. (2014): “Cribado universal de infección por citomegalovirus en prematuros de menos de 1.500 g”. Anales de Pediatría, 81: 256.e1-4.
• Brenner, D.J. et al. (2001): “Estimated Risk of radiation Induced Fatal Cancer from Pediatric CT AJR”. American Journal of Roentgenology, 176 (2): 289-296.
• Brownstein, Z. et al. (2011): “Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families”. Genome Biol., 12: R89.
• Cabanillas, R. y Cadiñanos, J. (2012): “Hipoacusias hereditarias: asesoramiento genético”. Acta Otorrinolaringol Esp., 63: 218-229.
• Cabanillas, R. et al. (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: 2617-2625.
• 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.
• Casselman, J.W. et al. (1996): “Inner ear malformations in patients with sensorineural hearing loss: detection with gradient-echo (3DFT-CISS) MRI”. Neuroradiology; 38 (3): 278-286.
• del Castillo, F.J. et al. (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: 588-594.
• Chiang, C.E. (2004): “Congenital and acquired long QT syndrome. Current concepts and management”. Cardiol Rev., 12: 222-234.
• Choi, B.Y. et al. (2013): “Diagnostic application of targeted resequencing for familial nonsyndromic hearing loss”. PLoS One., 8: e68692.
• Choi, B.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.
• Cohen, B.E. et al. (2014): “Viral causes of hearing loss: a review for hearing health professionals”. Trends Hear, 18: 1-17.
• Crotti et al. (2008): “Congenital long QT syndrome”. Orphanet Journal of Rare Diseases, 3: 18.
• Çelikel, E. et al. (2015): “Evaluation of 98 immunocompetent children with cytomegalovirus infection: importance of neurodevelopmental follow-up”. Eur J Pediatr., 174 (8): 1101-1107.
• Dahle, A.J. y McCollister, F.P. (1988): “Audiological findings in children with neonatal herpes”. Ear Hear, 9: 256-258.
• 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 Clin Virol, 56: 113-117.
• Declau, F. et al. (2008): “Etiologic and audiologic evaluations after universal neonatal hearing screening: analysis of 170 referred neonates”. Pediatrics, 121: 1119-1126.
• Deklerck, A.N. et al. (2015): “Etiological approach in patients with unidentified hearing loss”. Int J Pediatr Otorhinolaryngol., 79: 216-222.
• Demmler-Harrison, G. (2015): Congenital cytomegalovirus infection: Clinical features and diagnosis (en línea). , acceso 7 de julio de 2015.
• Dyer J.J. et al. (1988): “Teratogenic hearing loss: a clinical perspective”. Am J Otol., 19: 671-678.
• 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.
• Estivill, X. et al. (1998): “Connexin-26 mutations in sporadic and inherited sensorineural deafness”. Lancet., 351: 394-398.
• Gallo-Terán, J. et al. (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: 463-468.
• Goderis, J. et al. (2014): “Hearing loss and congenital CMV infection: a systematic review”. Pediatrics, 134: 972-982.
• Green, R.C. et al. (2013): “ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing”. Genet Med., 15: 565-574.
• Gu, X. et al. (2013): “Genetic testing for sporadic hearing loss using targeted massively parallel sequencing identifies 10 novel mutations”. Clin Genet., 87: 588-593.
• Gunkel, J. et al. (2014): “Urine is superior to saliva when screening for postnatal CMV infections in preterm infants”. J Clin Virol, 61: 61-64.
• Jacobson, S.G. et al. (2015): “Improvement and decline in vision with gene therapy in childhood blindness”. N Engl J Med., 372: 1920-1926.
• Jamuar, S.S. y Tan, E.C. (2015): “Clinical application of next-generation sequencing for Mendelian diseases”. Hum Genomics., 9: 10.
• Ji, H. et al. (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.
• Joint Committee on Infant Hearing (2007): “Year 2007 position statement: principles and guidelines for early hearing detection and intervention programs”. Pediatrics, 120: 898- 921.
• 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 (8): 1117-1121.
• Kadambari, S. et al. (2013): “Clinically targeted screening for congenital CMV - potential for integration into the National Hearing Screening Programme”. Acta Pediatr; 102: 928-933.
• Karltorp, E. et al. (2012): “Congenital cytomegalovirus infection - a common cause of hearing loss of unknown aetiology”. Acta Pediatr, 101: e357-62.
• Kenneson, A. et al. (2002): “GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review”. Genet Med., 4: 258-274.
• Kimberlin, D.W. et al. (2015): “Valganciclovir for symptomatic congenital cytomegalovirus disease”. N Engl J Med, 372: 933-943.
• Kochhar, A. et al. (2007): “Clinical aspects of hereditary hearing loss”. Genet Med., 9: 393- 408.
• Kohda, C. et al. (2014): “A simple smart amplification assay for the rapid detection of human cytomegalovirus in the urine of neonates”. J Virol Methods, 208: 160-165.
• Koontz, D. et al. (2015): “Evaluation of DNA extraction methods for the detection of Cytomegalovirus in dried blood spots”. J Clin Virol., 66: 95-99.
• Laury et al. (2009): “Etiology of unilateral neural hearing loss in children”. International Journal of Pediatric Otorhinolaringology, 73: 417-427.
• Lee, C.I. et al. (2004): “Diagnostic CT Scans: Assessment of Patient, Physician, and Radiologist Awareness of Radiation Dose and Possible Risks”. Radiology, 231: 393-398.
• Lemmerling, M. y Foer, B. (eds.) (2015): “Temporal Bone Imaging”. Springer-Verlag Berlin Heidelberg.
• 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.
• Lin, J.W. et al. (2011): “Comprehensive diagnostic battery for evaluating sensorineural hearing loss in children”. Otol Neurotol., 32: 259-264.
• Lu, Y. et al. (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: 599-607.
• MacLaren, R.E. et al. (2014): “Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial”. Lancet., 383: 1129-1137.
• Madden, C. et al. (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: 162-168.
• Mafong, D.D. et al. (2002): “Use of laboratory evaluation and radiologic imaging in the diagnostic evaluation of children with sensorineural hearing loss”. Laryngoscope, 112: 1-7.
• Muller, U. y Barr-Gillespie, P.G. (2015): “New treatment options for hearing loss”. Nat Rev Drug Discov., 14: 346-365.
• Núñez, F. et al. (2015): “Recomendaciones CODEPEH 2014”, Revista Española de Discapacidad, 3 (1): 163-186.
• Nuñez-Ramos, R. et al. (2013): “Early diagnosis of congenital cytomegalovirus infection: lost opportunities”. Enferm Infecc Microbiol Clin, 31: 93-96.
• Palmer, C.G. et al. (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: 1169-1182.
• Park, A.H. et al. (2014): “A diagnostic paradigm including cytomegalovirus testing for idiopathic pediatric sensorineural hearing loss”. Laryngoscope, 124: 2624-2629.
• Preciado, D.A. et al. (2005): “Improved diagnostic effectiveness with a sequential diagnostic paradigm in idiopathic pediatric sensorineural hearing loss”. Otol Neurotol, 26: 610-615.
• Pickett, B.P. y Ahlstrom, K. (1999) “Clinical evaluation of the hearing-impaired infant”. Otolaryngol Clin North Am., 32: 1019-1035.
• Rangan, S. et al. (2012): “Deafness in children: a national survey of aetiological investigations”. BMJ Open, 2: e001174.
• Rehm, H.L. (2013). “Disease-targeted sequencing: a cornerstone in the clinic”. Nat Rev Genet., 14: 295-300.
• Rehm, H.L. et al. (2013): “ACMG clinical laboratory standards for next-generation sequencing”. Genet Med., 15: 733-747.
• Robin, N.H. et al. (2015): “The use of genetic testing in the evaluation of hearing impairment in a child”. Curr Opin Pediatr., 17: 709-712.
• Ross, S. et al. (2015): “Urine Collection Method for the Diagnosis of Congenital Cytomegalovirus Infection”. Pediatr Infect Dis J., 34: 903-905.
• Sando, I. et al. (1998): “Frequency and localization of congenital anomalies of the middle and inner ears: a human temporal bone histopathologicalstudy”. Int J Pediatric Otorhinolaryngol., 16 (1): 1-22.
• Sanger, F. y Coulson, A.R. (1975): “A rapid method for determining sequences in DNA by primed synthesis with DNA polymerase”. J Mol Biol., 94: 441-448.
• 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.
• Schleiss, M.R. (2013): “Developing a Vaccine against Congenital Cytomegalovirus (CMV) Infection: What Have We Learned from Animal Models? Where Should We Go Next?”. Future Virol, 8: 1161-1182.
• Schrauwen, I. et al. (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: 145-152.
• Shearer, A.E. y Smith, R.J. (2015): “Massively Parallel Sequencing for Genetic Diagnosis of Hearing Loss: The New Standard of Care”. Otolaryngol Head Neck Surg., 153: 175-182.
• Shearer, A.E. et al. (2014): “Copy number variants are a common cause of non-syndromic hearing loss”. Genome Med., 6: 37.
• Shearer, A.E. et al. (2013): “Advancing genetic testing for deafness with genomic technology”. J Med Genet., 50: 627-634.
• Shearer, A.E. et al. (2010): “Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing”. Proc Natl Acad Sci U S A., 107 (49): 21.104-21.109.
• Singh, D. et al. (2015): “MR Evaluation of vestibulocochear Neuropathy”. J Neuroimaging, 1038-1430.
• Smiechura, M. et al. (2014): “Congenital and acquired cytomegalovirus infection and hearing evaluation in children”. Otolaryngol Pol, 68: 303-307.
• Takemori, S. et al. (1976): “Thalidomideanomalies of theear”. Arch Otolaryngol, 102: 425-427.
• Teek, R. et al. (2013): “Hearing impairment in Estonia: an algorithm to investigate genetic causes in pediatric patients”. Adv Med Sci, 58: 419-428.
• Tekin, D. et al. (2014): “Comprehensive genetic testing can save lives in hereditary hearing loss”. Clin Genet., 87: 190-191.
• Thomas, K.E. et al. (2006): “Assessment of radiation dose awareness among pediatricians”. Pediatr Radiol., 36: 823-832.
• Toumpas, C.J. et al. (2014): “Congenital cytomegalovirus infection is a significant cause of moderate to profound sensorineural hearing loss in Queensland children”. Journal of Paediatrics and Child Health, 51: 541–544.
• Trinidad, G. et al. (2010): “Recomendaciones de la Comisión para la Detección Precoz de la Hipoacusia (CODEPEH) para 2010”. Acta Otorrinolaringol. Esp, 61: 69-77.
• Valvassori, G.E. et al. (1969): “Inner ear anomalies: clinical and histopathological considerations”. Ann Otol Rhinol Laryngol., (5): 929-938.
• Vona, B. et al. (2015): “Non-syndromic hearing loss gene identification: A brief history and glimpse into the future”. Mol Cell Probes, 29 (5): 260-270.
• Vona, B. et al. (2014): “Targeted next-generation sequencing of deafness genes in hearingimpaired individuals uncovers informative mutations”. Genet Med., 16: 945- 953.
• Wang, D. y Fu, T.M. (2014): “Progress on human cytomegalovirus vaccines for prevention of congenital infection and disease”. Curr Opin Virol, 6: 13-23.
• Wei, X. et al. (2012): “Next-generation sequencing identifies a novel compound heterozygous mutation in MYO7A in a Chinese patient with Usher Syndrome 1B”. Clin Chim Acta., 413: 1866-1871.
• Williams, E.J. et al. (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, 100 (6): F501-F506.
• Williams, E.J. et al. (2014): “Feasibility and acceptability of targeted screening for congenital CMV-related hearing loss”. Arch Dis Child Fetal Neonatal, 99: F230-F236.
• Young, T.L. et al. (2001): “Nom - syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram Syndrome gene WFS1”. Hum Mol Genet, 10: 2509-2514.
• Yu, Q. et al. (2014): “Virally expressed connexin26 restores gap junction function in the cochlea of conditional Gjb2 knockout mice”. Gene Ther., 21: 71-80.