Diagnóstico etiológico de la sordera infantil: Recomendaciones CODEPEH 2015

• Núñez Batalla, Faustino ^[1] ; Jáudenes Casaubón, Carmen ^[2] ; Sequí Canet, José Miguel ^[3] ; Vivanco Allende, Ana ^[4] ; Zubicaray Ugarteche, José ^[5] ; Cabanillas Farpón, Rubén ^[6]
  1. [1] Hospital Universitario Central de Asturias-Oviedo. Sociedad Española de Otorrinolaringología
  2. [2] Confederación Española de Familias de Personas Sordas (FIAPAS)
  3. [3] Hospital de Gandía-Valencia. Asociación Española de Pediatría
  4. [4] Hospital Universitario Central de Asturias-Oviedo. Asociación Española de Pediatría
  5. [5] Complejo Hospitalario de Navarra-Pamplona. Sociedad Española de Otorrinolaringología
  6. [6] Instituto de Medicina Oncológica y Molecular de Asturias (IMOMA)

  Mostrar afiliaciones +
• Localización: Revista Española de Discapacidad (REDIS), ISSN-e 2340-5104, Vol. 4, Nº. 1, 2016 (Ejemplar dedicado a: Revista española de discapacidad), págs. 193-218
• Idioma: español
• DOI: 10.5569/2340-5104.04.01.11
• Enlaces
  • Texto completo (pdf)
• Dialnet Métricas: 2 Citas
• Referencias bibliográficas
  • Alarcón, A. y Baquero-Artigao, F. (2011): “Revisión y recomendaciones sobre la prevención, diagnóstico y tratamiento de la infección posnatal...
  • Alford, R.L. et al. (2014): “ACMG Working Group on Update of Genetics Evaluation Guidelines for the Etiologic Diagnosis of Congenital Hearing...
  • American Academy of Pediatrics et al. (2006): “Guidelines for Monitoring and Management of Pediatric Patients During and After Sedation for...
  • 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...
  • 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...
  • Botet, F. et al. (2015): “Cribado universal de infección por citomegalovirus en prematuros de menos de 1.500 g”. Anales de Pediatría, 83:...
  • Botet, F. et al. (2014): “Cribado universal de infección por citomegalovirus en prematuros de menos de 1.500 g”. Anales de Pediatría, 81:...
  • Brenner, D.J. et al. (2001): “Estimated Risk of radiation Induced Fatal Cancer from Pediatric CT AJR”. American Journal of Roentgenology,...
  • Brownstein, Z. et al. (2011): “Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in...
  • 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...
  • Cannon, M.J. et al. (2014): “Universal newborn screening for congenital CMV infection: what is the evidence of potential benefit?”. Rev Med...
  • 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...
  • Casselman, J.W. et al. (1996): “Inner ear malformations in patients with sensorineural hearing loss: detection with gradient-echo (3DFT-CISS)...
  • del Castillo, F.J. et al. (2005): “A novel deletion involving the connexin-30 gene, del (GJB6-d13s1854), found in trans with mutations in...
  • 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”....
  • 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”....
  • 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...
  • Declau, F. et al. (2008): “Etiologic and audiologic evaluations after universal neonatal hearing screening: analysis of 170 referred neonates”....
  • 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...
  • 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...
  • 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.,...
  • Gu, X. et al. (2013): “Genetic testing for sporadic hearing loss using targeted massively parallel sequencing identifies 10 novel mutations”....
  • Gunkel, J. et al. (2014): “Urine is superior to saliva when screening for postnatal CMV infections in preterm infants”. J Clin Virol, 61:...
  • 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...
  • Joint Committee on Infant Hearing (2007): “Year 2007 position statement: principles and guidelines for early hearing detection and intervention...
  • Kadambari, S. et al. (2015): “Evaluating the feasibility of integrating salivary testing for congenital CMV into the Newborn Hearing Screening...
  • Kadambari, S. et al. (2013): “Clinically targeted screening for congenital CMV - potential for integration into the National Hearing Screening...
  • Karltorp, E. et al. (2012): “Congenital cytomegalovirus infection - a common cause of hearing loss of unknown aetiology”. Acta Pediatr, 101:...
  • 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...
  • Koontz, D. et al. (2015): “Evaluation of DNA extraction methods for the detection of Cytomegalovirus in dried blood spots”. J Clin Virol.,...
  • Laury et al. (2009): “Etiology of unilateral neural hearing loss in children”. International Journal of Pediatric Otorhinolaringology, 73:...
  • Lee, C.I. et al. (2004): “Diagnostic CT Scans: Assessment of Patient, Physician, and Radiologist Awareness of Radiation Dose and Possible...
  • 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...
  • MacLaren, R.E. et al. (2014): “Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial”. Lancet.,...
  • Madden, C. et al. (2007): “The influence of mutations in the SLC26A4 gene on the temporal bone in a population with enlarged vestibular aqueduct”....
  • Mafong, D.D. et al. (2002): “Use of laboratory evaluation and radiologic imaging in the diagnostic evaluation of children with sensorineural...
  • 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,...
  • Palmer, C.G. et al. (2009): “A prospective, longitudinal study of the impact of GJB2/GJB6 genetic testing on the beliefs and attitudes of...
  • Park, A.H. et al. (2014): “A diagnostic paradigm including cytomegalovirus testing for idiopathic pediatric sensorineural hearing loss”. Laryngoscope,...
  • Preciado, D.A. et al. (2005): “Improved diagnostic effectiveness with a sequential diagnostic paradigm in idiopathic pediatric sensorineural...
  • 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”....
  • Sanger, F. y Coulson, A.R. (1975): “A rapid method for determining sequences in DNA by primed synthesis with DNA polymerase”. J Mol Biol.,...
  • Schimmenti, L.A. et al. (2011): “Evaluation of newborn screening bloodspot-based genetic testing as second tier screen for bedside newborn...
  • Schleiss, M.R. (2013): “Developing a Vaccine against Congenital Cytomegalovirus (CMV) Infection: What Have We Learned from Animal Models?...
  • Schrauwen, I. et al. (2013): “A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation...
  • Shearer, A.E. y Smith, R.J. (2015): “Massively Parallel Sequencing for Genetic Diagnosis of Hearing Loss: The New Standard of Care”. Otolaryngol...
  • 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...
  • 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:...
  • 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:...
  • 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...
  • Trinidad, G. et al. (2010): “Recomendaciones de la Comisión para la Detección Precoz de la Hipoacusia (CODEPEH) para 2010”. Acta Otorrinolaringol....
  • 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...
  • Vona, B. et al. (2014): “Targeted next-generation sequencing of deafness genes in hearingimpaired individuals uncovers informative mutations”....
  • Wang, D. y Fu, T.M. (2014): “Progress on human cytomegalovirus vaccines for prevention of congenital infection and disease”. Curr Opin Virol,...
  • Wei, X. et al. (2012): “Next-generation sequencing identifies a novel compound heterozygous mutation in MYO7A in a Chinese patient with Usher...
  • Williams, E.J. et al. (2015): “First estimates of the potential cost and cost saving of protecting childhood hearing from damage caused by...
  • Williams, E.J. et al. (2014): “Feasibility and acceptability of targeted screening for congenital CMV-related hearing loss”. Arch Dis Child...
  • Young, T.L. et al. (2001): “Nom - syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram Syndrome...
  • Yu, Q. et al. (2014): “Virally expressed connexin26 restores gap junction function in the cochlea of conditional Gjb2 knockout mice”. Gene...