Download PDF
CC BY-NC-ND 4.0 · Arq Neuropsiquiatr 2018; 76(05): 287-295
DOI: 10.1590/0004-282X20180031
Article

Amusia and its electrophysiological correlates in neurofibromatosis type 1

Amusia e seus correlatos eletrofisiológicos na neurofibromatose tipo 1
Bruno Cézar Lage Cota
1   Universidade Federal de Minas Gerais, Hospital das Clínicas, Centro de Referência em Neurofibromatoses, Belo Horizonte MG, Brasil;
,
João Gabriel Marques Fonseca
2   Universidade Federal de Minas Gerais, Faculdade de Medicina, Departamento de Clínica Médica, Belo Horizonte MG, Brasil;
,
Luiz Oswaldo Carneiro Rodrigues
1   Universidade Federal de Minas Gerais, Hospital das Clínicas, Centro de Referência em Neurofibromatoses, Belo Horizonte MG, Brasil;
,
Nilton Alves de Rezende
1   Universidade Federal de Minas Gerais, Hospital das Clínicas, Centro de Referência em Neurofibromatoses, Belo Horizonte MG, Brasil;
,
Pollyanna Barros Batista
1   Universidade Federal de Minas Gerais, Hospital das Clínicas, Centro de Referência em Neurofibromatoses, Belo Horizonte MG, Brasil;
,
Vincent Michael Riccardi
3   The Neurofibromatosis Institute, La Crescenta, CA, USA;
,
Luciana Macedo de Resende
4   Universidade Federal de Minas Gerais, Faculdade de Medicina, Departamento de Fonoaudiologia, Belo Horizonte MG, Brasil.
› Author Affiliations
› Further Information
Also available at
   Permissions and Reprints

ABSTRACT

Auditory processing deficits are common in people with neurofibromatosis type 1 (NF1) and they often report difficulties in musical performance.

Objective: We investigated whether NF1 could be associated with amusia as well as with some impairment of primary auditory cortex activity.

Methods: Eighteen people with NF1 and 22 healthy volunteers, matched for age, sex and educational level, were evaluated with the Montreal Battery Evaluation of Amusia – short version. The integrity of cortical primary auditory processing areas was evaluated by evoked potential mismatch negativity.

Results: Amusia was correlated with NF1 (p = 0.001, odds ratio = 42.0, confidence interval 4.5–39.6). Patients with NF1 exhibited a greater prevalence of amusia than healthy controls (67% vs. 4.5%) and difficulties in both melodic and temporal music perception. Worse performance on the Montreal Battery Evaluation of Amusia was correlated with a greater mismatch negativity latency in NF1 group.

Conclusions: Amusia is a common feature in NF1 and may result from impairment of activity in primary auditory processing areas.

RESUMO

Déficits de processamento auditivo são comuns em pessoas com neurofibromatose tipo 1 (NF1), que também se queixam frequentemente de dificuldades no desempenho musical.

Objetivos: Nós investigamos se a NF1 poderia estar associada à amusia, assim como a algum comprometimento da atividade do córtex auditivo primário.

Métodos: Dezoito pessoas com NF1 e 22 controles sem a doença, pareados por idade, sexo e nível educacional, foram avaliados por meio da versão reduzida da Bateria de Avaliação de Amusia de Montreal (MBEA). A integridade das áreas corticais primárias do processamento auditivo foi avaliada através do potencial evocado auditivo mismacth negativity (MMN).

Resultados: A amusia correlacionou-se com a NF1 (p = 0,001, odds ratio = 42,0, intervalo de confiança 4,5–39,6). Os pacientes com NF1 apresentaram maior prevalência de amusia do que os controles saudáveis (67% vs. 4,5%) e dificuldades na percepção musical, tanto melódica quanto temporal. O desempenho pior na MBEA foi correlacionado com maiores latências do MMN no grupo NF1.

Conclusões: A amusia é uma característica comum na NF1 e pode resultar do comprometimento da atividade de áreas de processamento auditivo primário.

Keywords:

neurofibromatosis 1 - music - evoked potentials - auditory perceptual disorders - pitch discrimination

Palavras-chave:

Neurofibromatose tipo 1 - música - potenciais evocados - transtornos da percepção auditiva - nível de discriminação sonora

Support

CNPq, CAPES, FAPEMIG, Universidade Federal de Minas Gerais (UFMG) and Pró- Reitoria de Pesquisa da UFMG.




Publication History

Received: 20 December 2017

Accepted: 03 February 2018

Article published online:
25 August 2023

© 2023. Academia Brasileira de Neurologia. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commecial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

Thieme Revinter Publicações Ltda.
Rua do Matoso 170, Rio de Janeiro, RJ, CEP 20270-135, Brazil

 

  • References

  • 1 Rodrigues LO, Batista PB, Goloni-Bertollo EM, Souza-Costa D, Eliam L, Eliam M et al. Neurofibromatoses: part 1: diagnosis and differential diagnosis. Arq Neuropsiquiatr. 2014 Mar;72(3):241-50. https://doi.org/10.1590/0004-282X20130241
  • 2 Diggs-Andrews KA, Gutmann DH. Modeling cognitive dysfunction in neurofibromatosis-1. Trends Neurosci. 2013 Apr;36(4):237-47. https://doi.org/10.1016/j.tins.2012.12.002
  • 3 Pride N, Payne JM, Webster R, Shores EA, Rae C, North KN. Corpus callosum morphology and its relationship to cognitive function in neurofibromatosis type 1. J Child Neurol. 2010 Jul;25(7):834-41. https://doi.org/10.1177/0883073809350723
  • 4 Piscitelli O, Digilio MC, Capolino R, Longo D, Di Ciommo V. Neurofibromatosis type 1 and cerebellar T2-hyperintensities: the relationship to cognitive functioning. Dev Med Child Neurol. 2012 Jan;54(1):49-51. https://doi.org/10.1111/j.1469-8749.2011.04139.x
  • 5 Hyman SL, Gill DS, Shores EA, Steinberg A, North KN. T2 hyperintensities in children with neurofibromatosis type 1 and their relationship to cognitive functioning. J Neurol Neurosurg Psychiatry. 2007 Oct;78(10):1088-91. https://doi.org/10.1136/jnnp.2006.108134
  • 6 Karlsgodt KH, Rosser T, Lutkenhoff ES, Cannon TD, Silva A, Bearden CE. Alterations in white matter microstructure in neurofibromatosis-1. PLoS One. 2012;7(10):e47854. https://doi.org/10.1371/journal.pone.0047854
  • 7 Batista PB, Lemos SM, Rodrigues LO, de Rezende NA. Auditory temporal processing deficits and language disorders in patients with neurofibromatosis type 1. J Commun Disord. 2014 Mar-Apr;48:18-26. https://doi.org/10.1016/j.jcomdis.2013.12.002
  • 8 Ayotte J, Peretz I, Hyde K. Congenital amusia: a group study of adults afflicted with a music-specific disorder. Brain. 2002 Feb;125(Pt 2):238-51. https://doi.org/10.1093/brain/awf028
  • 9 Williamson VJ, Stewart L. Congenital amusia. Handb Clin Neurol. 2013;111:237-9. https://doi.org/10.1016/B978-0-444-52891-9.00024-5
  • 10 Särkämö T, Tervaniemi M, Soinila S, Autti T, Silvennoinen HM, Laine M et al. Amusia and cognitive deficits after stroke: is there a relationship? Ann N Y Acad Sci. 2009 Jul;1169(1):441-5. https://doi.org/10.1111/j.1749-6632.2009.04765.x
  • 11 Peretz I, Vuvan DT. Prevalence of congenital amusia. Eur J Hum Genet. 2017 May;25(5):625-30. https://doi.org/10.1038/ejhg.2017.15
  • 12 Kalmus H, Fry DB. On tune deafness (dysmelodia): frequency, development, genetics and musical background. Ann Hum Genet. 1980 May;43(4):369-82. https://doi.org/10.1111/j.1469-1809.1980.tb01571.x
  • 13 Liu F, Jiang C, Wang B, Xu Y, Patel AD. A music perception disorder (congenital amusia) influences speech comprehension. Neuropsychologia. 2015 Jan;66:111-8. https://doi.org/10.1016/j.neuropsychologia.2014.11.001
  • 14 Peretz I, Champod AS, Hyde K. Varieties of musical disorders. The Montreal Battery of Evaluation of Amusia. Ann N Y Acad Sci. 2003 Nov;999(1):58-75. https://doi.org/10.1196/annals.1284.006
  • 15 Peretz I. Neurobiology of Congenital Amusia. Trends Cogn Sci. 2016 Nov;20(11):857-67. https://doi.org/10.1016/j.tics.2016.09.002
  • 16 Hyde KL, Zatorre RJ, Peretz I. Functional MRI evidence of an abnormal neural network for pitch processing in congenital amusia. Cereb Cortex. 2011 Feb;21(2):292-9. https://doi.org/10.1093/cercor/bhq094
  • 17 Loui P, Alsop D, Schlaug G. Tone deafness: a new disconnection syndrome? J Neurosci. 2009 Aug;29(33):10215-20. https://doi.org/10.1523/JNEUROSCI.1701-09.2009
  • 18 Loui P, Hohmann A, Schlaug G. Inducing Disorders in Pitch Perception and Production: a Reverse-Engineering Approach. Proc Meet Acoust. 2010 Apr;9(1):50002. https://doi.org/10.1121/1.3431713
  • 19 Moreau P, Jolicœur P, Peretz I. Pitch discrimination without awareness in congenital amusia: evidence from event-related potentials. Brain Cogn. 2013 Apr;81(3):337-44. https://doi.org/10.1016/j.bandc.2013.01.004
  • 20 Garrido MI, Kilner JM, Stephan KE, Friston KJ. The mismatch negativity: a review of underlying mechanisms. Clin Neurophysiol. 2009 Mar;120(3):453-63. https://doi.org/10.1016/j.clinph.2008.11.029
  • 21 Näätänen R, Sussman ES, Salisbury D, Shafer VL. Mismatch negativity (MMN) as an index of cognitive dysfunction. Brain Topogr. 2014 Jul;27(4):451-66. https://doi.org/10.1007/s10548-014-0374-6
  • 22 Bartha-Doering L, Deuster D, Giordano V, am Zehnhoff-Dinnesen A, Dobel C. A systematic review of the mismatch negativity as an index for auditory sensory memory: from basic research to clinical and developmental perspectives. Psychophysiology. 2015 Sep;52(9):1115-30. https://doi.org/10.1111/psyp.12459
  • 23 Pen MG, Mangabeira-Albernaz PL. Desenvolvimento de teste de logoaudiometria: discriminação vocal. In: Anales do 2 Congresso Pan americano de Otorrinolaringologia y Broncoesofasologia, 2, 1973, Lima, Peru. p. 223-6.
  • 24 Nunes-Silva M, Haase VG. Montreal Battery of Evaluation of Amusia: validity evidence and norms for adolescents in Belo Horizonte, Minas Gerais, Brazil. Dement Neuropsychol. 2012 Oct-Dec;6(4):244-52. https://doi.org/10.1590/S1980-57642012DN06040008
  • 25 American Clinical Neurophysiology Society. Guideline twelve: guidelines for long-term monitoring for epilepsy. J Electroneurodiagn Technol. 2008 Jun;25(3):170-80. https://doi.org/10.1097/WNP.0b013e318175d472
  • 26 Sinkkonen J, Tervaniemi M. Towards optimal recording and analysis of the mismatch negativity. Audiol Neurootol. 2000 May-Aug;5(3-4):235-46. https://doi.org/10.1159/000013885
  • 27 Olakunbi D, Bamiou DE, Stewart L, Luxon LM. Evaluation of musical skills in children with a diagnosis of an auditory processing disorder. Int J Pediatr Otorhinolaryngol. 2010 Jun;74(6):633-6. https://doi.org/10.1016/j.ijporl.2010.03.008
  • 28 Unsworth N, Robison MK. The influence of lapses of attention on working memory capacity. Mem Cognit. 2016 Feb;44(2):188-96. https://doi.org/10.3758/s13421-015-0560-0
  • 29 Cuddy LL, Balkwill LL, Peretz I, Holden RR. Musical difficulties are rare: a study of “tone deafness” among university students. Ann N Y Acad Sci. 2005 Dec;1060(1):311-24. https://doi.org/10.1196/annals.1360.026
  • 30 Pfeifer J, Hamann S. Revising the diagnosis of congenital amusia with the Montreal Battery of Evaluation of Amusia. Front Hum Neurosci. 2015 Apr;9:161. https://doi.org/10.3389/fnhum.2015.00161
  • 31 Wise K. Understanding “tone deafness”: A multi-componential analysis of perception, cognition, singing and self-perceptions in adults reporting musical difficulties [Doctoral degree]Keele, UK: Keele University; 2009.
  • 32 Moreau P, Jolicoeur P, Peretz I. Automatic brain responses to pitch changes in congenital amusia. Ann N Y Acad Sci. 2009 Jul;1169(1):191-4. https://doi.org/10.1111/j.1749-6632.2009.04775.x