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Congenital deafness

MedGen UID:
83296
•Concept ID:
C0339789
•
Congenital Abnormality
Synonym: Hereditary deafness
SNOMED CT: Congenital deafness (95828007)

Definition

complete loss of the ability to hear from both ears since birth, regardless of causation. [from CRISP]

Professional guidelines

PubMed

Epidemiology, aetiology and diagnosis of congenital hearing loss via hearing screening of 153 913 newborns.
Yoshimura H, Okubo T, Shinagawa J, Nishio SY, Takumi Y, Usami SI
Int J Epidemiol 2024 Apr 11;53(3) doi: 10.1093/ije/dyae052. PMID: 38609324Free PMC Article
Optimized concurrent hearing and genetic screening in Beijing, China: A cross-sectional study.
Wen C, Yang X, Cheng X, Zhang W, Li Y, Wang J, Wang C, Ruan Y, Zhao L, Lu H, Li Y, Bai Y, Yu Y, Li Y, Xie J, Qi BE, En H, Liu H, Fu X, Huang L, Han D
Biosci Trends 2023 May 15;17(2):148-159. Epub 2023 Apr 14 doi: 10.5582/bst.2023.01051. PMID: 37062750
Neonatal hearing screening: what we have achieved and what needs to be improved.
Nikolopoulos TP
Int J Pediatr Otorhinolaryngol 2015 May;79(5):635-7. Epub 2015 Feb 16 doi: 10.1016/j.ijporl.2015.02.010. PMID: 25758196

Recent clinical studies

Etiology

Cochlear Implantation in Infants: Why and How.
Purcell PL, Deep NL, Waltzman SB, Roland JT Jr, Cushing SL, Papsin BC, Gordon KA
Trends Hear 2021 Jan-Dec;25:23312165211031751. doi: 10.1177/23312165211031751. PMID: 34281434Free PMC Article
Functional and structural brain connectivity in congenital deafness.
Dell Ducas K, Senra Filho ACDS, Silva PHR, Secchinato KF, Leoni RF, Santos AC
Brain Struct Funct 2021 May;226(4):1323-1333. Epub 2021 Mar 19 doi: 10.1007/s00429-021-02243-6. PMID: 33740108
Perampanel and pregnancy.
Vazquez B, Tomson T, Dobrinsky C, Schuck E, O'Brien TJ
Epilepsia 2021 Mar;62(3):698-708. doi: 10.1111/epi.16821. PMID: 33666943Free PMC Article
Loss of Consciousness in the Young Child.
Villafane J, Miller JR, Glickstein J, Johnson JN, Wagner J, Snyder CS, Filina T, Pomeroy SL, Sexson-Tejtel SK, Haxel C, Gottlieb J, Eghtesady P, Chowdhury D
Pediatr Cardiol 2021 Feb;42(2):234-254. Epub 2021 Jan 2 doi: 10.1007/s00246-020-02498-6. PMID: 33388850
c-Ret-mediated hearing losses.
Ohgami N, Tamura H, Ohgami K, Iida M, Yajima I, Kumasaka MY, Goto Y, Sone M, Nakashima T, Kato M
Int J Clin Exp Pathol 2012;5(1):23-8. Epub 2012 Jan 1 PMID: 22295143Free PMC Article

Diagnosis

Cochlear Implantation in Infants: Why and How.
Purcell PL, Deep NL, Waltzman SB, Roland JT Jr, Cushing SL, Papsin BC, Gordon KA
Trends Hear 2021 Jan-Dec;25:23312165211031751. doi: 10.1177/23312165211031751. PMID: 34281434Free PMC Article
Neonatal hearing screening: what we have achieved and what needs to be improved.
Nikolopoulos TP
Int J Pediatr Otorhinolaryngol 2015 May;79(5):635-7. Epub 2015 Feb 16 doi: 10.1016/j.ijporl.2015.02.010. PMID: 25758196
Genetic hearing impairment.
Ječmenica J, Bajec-Opančina A, Ječmenica D
Childs Nerv Syst 2015 Apr;31(4):515-9. Epub 2015 Feb 17 doi: 10.1007/s00381-015-2628-3. PMID: 25686889
Genetics of vestibulopathy and migraine.
Oh AK
Curr Opin Otolaryngol Head Neck Surg 2013 Oct;21(5):469-72. doi: 10.1097/MOO.0b013e32836464d5. PMID: 23892793
The genetics of deafness.
Nance WE
Ment Retard Dev Disabil Res Rev 2003;9(2):109-19. doi: 10.1002/mrdd.10067. PMID: 12784229

Therapy

AAV1-hOTOF gene therapy for autosomal recessive deafness 9: a single-arm trial.
Lv J, Wang H, Cheng X, Chen Y, Wang D, Zhang L, Cao Q, Tang H, Hu S, Gao K, Xun M, Wang J, Wang Z, Zhu B, Cui C, Gao Z, Guo L, Yu S, Jiang L, Yin Y, Zhang J, Chen B, Wang W, Chai R, Chen ZY, Li H, Shu Y
Lancet 2024 May 25;403(10441):2317-2325. Epub 2024 Jan 24 doi: 10.1016/S0140-6736(23)02874-X. PMID: 38280389
Long-Term Outcome of Cochlear Implantation in Post-meningitic Deafnes.
Altuntaş OM, Özkan B, Bajin D, Sennaroğlu G, Sennaroğlu L
J Int Adv Otol 2021 Nov;17(6):500-507. doi: 10.5152/iao.2021.21105. PMID: 35177386Free PMC Article
Perampanel and pregnancy.
Vazquez B, Tomson T, Dobrinsky C, Schuck E, O'Brien TJ
Epilepsia 2021 Mar;62(3):698-708. doi: 10.1111/epi.16821. PMID: 33666943Free PMC Article
Genetic and clinical advances in congenital long QT syndrome.
Mizusawa Y, Horie M, Wilde AA
Circ J 2014;78(12):2827-33. Epub 2014 Oct 1 doi: 10.1253/circj.cj-14-0905. PMID: 25274057
Review of environmental factors affecting hearing.
Mills JH, Going JA
Environ Health Perspect 1982 Apr;44:119-27. doi: 10.1289/ehp.8244119. PMID: 7044773Free PMC Article

Prognosis

Audiological Features in 63 Patients With Cochlear Nerve Deficiency.
Matsuura K, Yoshimura H, Shinagawa J, Kurozumi M, Takumi Y
Otol Neurotol 2022 Jan 1;43(1):23-28. doi: 10.1097/MAO.0000000000003365. PMID: 34538855
Perampanel and pregnancy.
Vazquez B, Tomson T, Dobrinsky C, Schuck E, O'Brien TJ
Epilepsia 2021 Mar;62(3):698-708. doi: 10.1111/epi.16821. PMID: 33666943Free PMC Article
Higher-order auditory areas in congenital deafness: Top-down interactions and corticocortical decoupling.
Kral A, Yusuf PA, Land R
Hear Res 2017 Jan;343:50-63. Epub 2016 Sep 13 doi: 10.1016/j.heares.2016.08.017. PMID: 27637669
Cross-modal plasticity in developmental and age-related hearing loss: Clinical implications.
Glick H, Sharma A
Hear Res 2017 Jan;343:191-201. Epub 2016 Sep 6 doi: 10.1016/j.heares.2016.08.012. PMID: 27613397Free PMC Article
The genetics of deafness.
Nance WE
Ment Retard Dev Disabil Res Rev 2003;9(2):109-19. doi: 10.1002/mrdd.10067. PMID: 12784229

Clinical prediction guides

AAV1-hOTOF gene therapy for autosomal recessive deafness 9: a single-arm trial.
Lv J, Wang H, Cheng X, Chen Y, Wang D, Zhang L, Cao Q, Tang H, Hu S, Gao K, Xun M, Wang J, Wang Z, Zhu B, Cui C, Gao Z, Guo L, Yu S, Jiang L, Yin Y, Zhang J, Chen B, Wang W, Chai R, Chen ZY, Li H, Shu Y
Lancet 2024 May 25;403(10441):2317-2325. Epub 2024 Jan 24 doi: 10.1016/S0140-6736(23)02874-X. PMID: 38280389
Audiological Features in 63 Patients With Cochlear Nerve Deficiency.
Matsuura K, Yoshimura H, Shinagawa J, Kurozumi M, Takumi Y
Otol Neurotol 2022 Jan 1;43(1):23-28. doi: 10.1097/MAO.0000000000003365. PMID: 34538855
Perampanel and pregnancy.
Vazquez B, Tomson T, Dobrinsky C, Schuck E, O'Brien TJ
Epilepsia 2021 Mar;62(3):698-708. doi: 10.1111/epi.16821. PMID: 33666943Free PMC Article
Higher-order auditory areas in congenital deafness: Top-down interactions and corticocortical decoupling.
Kral A, Yusuf PA, Land R
Hear Res 2017 Jan;343:50-63. Epub 2016 Sep 13 doi: 10.1016/j.heares.2016.08.017. PMID: 27637669
Cross-modal plasticity in developmental and age-related hearing loss: Clinical implications.
Glick H, Sharma A
Hear Res 2017 Jan;343:191-201. Epub 2016 Sep 6 doi: 10.1016/j.heares.2016.08.012. PMID: 27613397Free PMC Article

Recent systematic reviews

Systematic Review of Nontumor Pediatric Auditory Brainstem Implant Outcomes.
Noij KS, Kozin ED, Sethi R, Shah PV, Kaplan AB, Herrmann B, Remenschneider A, Lee DJ
Otolaryngol Head Neck Surg 2015 Nov;153(5):739-50. Epub 2015 Jul 30 doi: 10.1177/0194599815596929. PMID: 26227469

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