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Absent brainstem auditory responses

MedGen UID:
322983
Concept ID:
C1836742
Finding
Synonym: No auditory brainstem response
 
HPO: HP:0004463

Definition

Lack of measurable response to stimulation of auditory evoked potentials. [from HPO]

Term Hierarchy

Conditions with this feature

Autosomal recessive nonsyndromic hearing loss 9
MedGen UID:
331376
Concept ID:
C1832828
Disease or Syndrome
OTOF-related deafness is characterized by two phenotypes: prelingual nonsyndromic auditory neuropathy spectrum disorder (ANSD) and, less frequently, temperature-sensitive auditory neuropathy spectrum disorder (TS-ANSD). OTOF-related ANSD is characterized by congenital or prelingual, typically severe-to-profound bilateral deafness without inner-ear anomalies on MRI or CT examination of the temporal bones. Otoacoustic emissions (OAEs) are present and auditory brain stem response is abnormal at birth. Newborn hearing screening testing of OAEs only will fail to detect this disorder in most individuals. OAEs may decrease or disappear with age in 20%-80% of individuals. TS-ANSD typically presents with normal-to-moderate hearing loss (0-55 dB) at baseline body temperature. An elevation of body temperature (approximately 0.5°C or more) triggers significant bilateral hearing loss ranging from severe to profound, with resolution of hearing loss typically occurring within hours of a return to baseline body temperature.
PCWH syndrome
MedGen UID:
373160
Concept ID:
C1836727
Disease or Syndrome
PCWH syndrome is a complex neurocristopathy that includes features of 4 distinct syndromes: peripheral demyelinating neuropathy (see 118200), central dysmyelination, Waardenburg syndrome, and Hirschsprung disease (see 142623) (Inoue et al., 2004). Inoue et al. (2004) proposed the acronym PCWH for this disorder.
Autosomal recessive nonsyndromic hearing loss 104
MedGen UID:
899775
Concept ID:
C4225298
Disease or Syndrome
Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the RIPOR2 gene.
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness
MedGen UID:
1382171
Concept ID:
C4479603
Disease or Syndrome
SPTBN4 disorder is typically characterized by severe-to-profound developmental delay and/or intellectual disability, although two individuals in one family had a milder phenotype, including one individual with normal cognitive development. Speech and language skills are often severely limited. Affected individuals rarely achieve head control. Most are unable to sit, stand, or walk. Affected individuals typically have congenital hypotonia that may transition to hypertonia. Axonal motor neuropathy leads to hyporeflexia/areflexia and weakness, which can result in respiratory difficulties requiring ventilatory support. Most affected individuals require tube feeding for nutrition. Half of affected individuals develop seizures. Cortical visual impairment and auditory neuropathy have also been reported.

Professional guidelines

PubMed

Nikolopoulos TP
Int J Pediatr Otorhinolaryngol 2014 Feb;78(2):171-3. Epub 2013 Dec 24 doi: 10.1016/j.ijporl.2013.12.021. PMID: 24380663
Vlastarakos PV, Nikolopoulos TP, Tavoulari E, Papacharalambous G, Korres S
Int J Pediatr Otorhinolaryngol 2008 Aug;72(8):1135-50. Epub 2008 May 27 doi: 10.1016/j.ijporl.2008.04.004. PMID: 18502518
Berg AL, Spitzer JB, Towers HM, Bartosiewicz C, Diamond BE
Pediatrics 2005 Oct;116(4):933-8. doi: 10.1542/peds.2004-2806. PMID: 16199704

Recent clinical studies

Etiology

Yousef M, Mesallam TA, Almasaad A, Alhabib S, Hagr A, Alzhrani F
Eur Arch Otorhinolaryngol 2022 Mar;279(3):1295-1300. Epub 2021 Apr 18 doi: 10.1007/s00405-021-06792-8. PMID: 33866399
Rishiq D, Harkrider A, Springer C, Hedrick M
Neurosci Lett 2021 Jan 1;740:135460. Epub 2020 Oct 24 doi: 10.1016/j.neulet.2020.135460. PMID: 33184036
Kaga K
Auris Nasus Larynx 2016 Feb;43(1):10-20. Epub 2015 Jul 22 doi: 10.1016/j.anl.2015.06.008. PMID: 26209259
Nikolopoulos TP
Int J Pediatr Otorhinolaryngol 2014 Feb;78(2):171-3. Epub 2013 Dec 24 doi: 10.1016/j.ijporl.2013.12.021. PMID: 24380663
Wang Q, Gu R, Han D, Yang W
Laryngoscope 2003 Sep;113(9):1623-9. doi: 10.1097/00005537-200309000-00041. PMID: 12972945

Diagnosis

Rahşan I, Samiye U, Ahmet Y
Ideggyogy Sz 2023 Nov 30;76(11-12):399-407. doi: 10.18071/isz.76.0399. PMID: 38051688
Rishiq D, Harkrider A, Springer C, Hedrick M
Neurosci Lett 2021 Jan 1;740:135460. Epub 2020 Oct 24 doi: 10.1016/j.neulet.2020.135460. PMID: 33184036
Greer DM, Shemie SD, Lewis A, Torrance S, Varelas P, Goldenberg FD, Bernat JL, Souter M, Topcuoglu MA, Alexandrov AW, Baldisseri M, Bleck T, Citerio G, Dawson R, Hoppe A, Jacobe S, Manara A, Nakagawa TA, Pope TM, Silvester W, Thomson D, Al Rahma H, Badenes R, Baker AJ, Cerny V, Chang C, Chang TR, Gnedovskaya E, Han MK, Honeybul S, Jimenez E, Kuroda Y, Liu G, Mallick UK, Marquevich V, Mejia-Mantilla J, Piradov M, Quayyum S, Shrestha GS, Su YY, Timmons SD, Teitelbaum J, Videtta W, Zirpe K, Sung G
JAMA 2020 Sep 15;324(11):1078-1097. doi: 10.1001/jama.2020.11586. PMID: 32761206
Eggermont JJ
Handb Clin Neurol 2019;160:451-464. doi: 10.1016/B978-0-444-64032-1.00030-8. PMID: 31277868
Menten K, Van Eynde C, Desloovere C, Wouters J
B-ENT 2014;10(2):105-12. PMID: 25090808

Therapy

McKearney RM, Bell SL, Chesnaye MA, Simpson DM
Ear Hear 2022 May/Jun;43(3):949-960. doi: 10.1097/AUD.0000000000001151. PMID: 34751677
Greer DM, Shemie SD, Lewis A, Torrance S, Varelas P, Goldenberg FD, Bernat JL, Souter M, Topcuoglu MA, Alexandrov AW, Baldisseri M, Bleck T, Citerio G, Dawson R, Hoppe A, Jacobe S, Manara A, Nakagawa TA, Pope TM, Silvester W, Thomson D, Al Rahma H, Badenes R, Baker AJ, Cerny V, Chang C, Chang TR, Gnedovskaya E, Han MK, Honeybul S, Jimenez E, Kuroda Y, Liu G, Mallick UK, Marquevich V, Mejia-Mantilla J, Piradov M, Quayyum S, Shrestha GS, Su YY, Timmons SD, Teitelbaum J, Videtta W, Zirpe K, Sung G
JAMA 2020 Sep 15;324(11):1078-1097. doi: 10.1001/jama.2020.11586. PMID: 32761206
Santos RB, Marangoni AT, de Andrade AN, Prestes R, Gil D
Clinics (Sao Paulo) 2014;69(12):835-40. doi: 10.6061/clinics/2014(12)08. PMID: 25627996Free PMC Article
Sharshar T, Porcher R, Siami S, Rohaut B, Bailly-Salin J, Hopkinson NS, Clair B, Guidoux C, Iacobone E, Sonneville R, Polito A, Aboab J, Gaudry S, Morla O, Amouyal G, Azuar J, Allary J, Vieillard-Baron A, Wolff M, Cariou A, Annane D; Paris-Ouest Study Group on Neurological Effect of Sedation (POSGNES)
Crit Care Med 2011 Aug;39(8):1960-7. doi: 10.1097/CCM.0b013e31821b843b. PMID: 21532477
Pillion JP, Rawool VW, Naidu S
Audiology 2000 Mar-Apr;39(2):80-7. doi: 10.3109/00206090009073057. PMID: 10882046

Prognosis

Abusrair A, AlHamoud I, Bohlega S
J Clin Neurophysiol 2022 Sep 1;39(6):504-509. Epub 2020 Dec 30 doi: 10.1097/WNP.0000000000000811. PMID: 33417382
Lim JY, Oh SH, Park KN, Choi SP, Oh JS, Youn CS, Kim HJ, Kim HJ, Song H
Resuscitation 2021 Jul;164:12-19. Epub 2021 May 5 doi: 10.1016/j.resuscitation.2021.04.024. PMID: 33964333
Lundin K, Stillesjö F, Rask-Andersen H
Cochlear Implants Int 2015 Sep;16(5):254-61. Epub 2015 Mar 23 doi: 10.1179/1754762815Y.0000000005. PMID: 25798647
Sharshar T, Porcher R, Siami S, Rohaut B, Bailly-Salin J, Hopkinson NS, Clair B, Guidoux C, Iacobone E, Sonneville R, Polito A, Aboab J, Gaudry S, Morla O, Amouyal G, Azuar J, Allary J, Vieillard-Baron A, Wolff M, Cariou A, Annane D; Paris-Ouest Study Group on Neurological Effect of Sedation (POSGNES)
Crit Care Med 2011 Aug;39(8):1960-7. doi: 10.1097/CCM.0b013e31821b843b. PMID: 21532477
Rapin I, Gravel J
Int J Pediatr Otorhinolaryngol 2003 Jul;67(7):707-28. doi: 10.1016/s0165-5876(03)00103-4. PMID: 12791445

Clinical prediction guides

Yousef M, Mesallam TA, Almasaad A, Alhabib S, Hagr A, Alzhrani F
Eur Arch Otorhinolaryngol 2022 Mar;279(3):1295-1300. Epub 2021 Apr 18 doi: 10.1007/s00405-021-06792-8. PMID: 33866399
Abusrair A, AlHamoud I, Bohlega S
J Clin Neurophysiol 2022 Sep 1;39(6):504-509. Epub 2020 Dec 30 doi: 10.1097/WNP.0000000000000811. PMID: 33417382
Greer DM, Shemie SD, Lewis A, Torrance S, Varelas P, Goldenberg FD, Bernat JL, Souter M, Topcuoglu MA, Alexandrov AW, Baldisseri M, Bleck T, Citerio G, Dawson R, Hoppe A, Jacobe S, Manara A, Nakagawa TA, Pope TM, Silvester W, Thomson D, Al Rahma H, Badenes R, Baker AJ, Cerny V, Chang C, Chang TR, Gnedovskaya E, Han MK, Honeybul S, Jimenez E, Kuroda Y, Liu G, Mallick UK, Marquevich V, Mejia-Mantilla J, Piradov M, Quayyum S, Shrestha GS, Su YY, Timmons SD, Teitelbaum J, Videtta W, Zirpe K, Sung G
JAMA 2020 Sep 15;324(11):1078-1097. doi: 10.1001/jama.2020.11586. PMID: 32761206
Kawase T, Kanno A, Takata Y, Nakasato N, Kawashima R, Kobayashi T
Clin Neurophysiol 2014 Jan;125(1):148-53. Epub 2013 Jul 26 doi: 10.1016/j.clinph.2013.06.184. PMID: 23895952
Wang Q, Gu R, Han D, Yang W
Laryngoscope 2003 Sep;113(9):1623-9. doi: 10.1097/00005537-200309000-00041. PMID: 12972945

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