Publicado

2017-04-01

Características del habla, el lenguaje y la deglución en la enfermedad de Huntington

Speech, language and swallowing in Huntington’ Disease

DOI:

https://doi.org/10.15446/revfacmed.v65n2.57449

Palabras clave:

Enfermedad de Huntington, Fonoaudiología, Habla, Lenguaje, Deglución. (es)
Huntington's disease, Phonoaudiology, Speaks, Language, Swallowing. (en)

Descargas

Autores/as

  • Maryluz Camargo-Mendoza Universidad Nacional de Colombia - Sede Bogotá - Facultad de Medicina - Departamento de la Comunicación Humana - Bogotá D.C. - Colombia.
  • Nicolás Castillo-Triana Universidad Nacional de Colombia - Sede Bogotá - Facultad de Medicina - Departamento de la Comunicación Humana - Bogotá D.C. - Colombia.
  • Juan Miguel Fandiño Cardona Universidad Nacional de Colombia - Sede Bogotá - Facultad de Medicina - Departamento de la Comunicación Humana - Bogotá D.C. - Colombia.
  • Angélica Mateus-Moreno Universidad Nacional de Colombia - Sede Bogotá - Facultad de Medicina - Departamento de la Comunicación Humana - Bogotá D.C. - Colombia.
  • Mariana Moreno-Martínez Universidad Nacional de Colombia - Sede Bogotá - Facultad de Medicina - Departamento de la Comunicación Humana - Bogotá D.C. - Colombia.

La enfermedad de Huntington (EH) ha sido descrita como una afección de causa genética producida por una mutación en la repetición de la secuencia de nucleótidos CAG (citosina-adenina-guanina). Según el estadio que curse la enfermedad, las personas pueden presentar dificultades en el habla, el lenguaje y la deglución. El propósito de este artículo es exponer con detalle dichas dificultades, así como su tratamiento fonoaudiológico. Se destaca que en el habla se encuentran características propias de una disartria hipercinética debido a los movimientos coreicos subyacentes. En el lenguaje, las personas con EH realizan enunciados más cortos y con estructuras sintácticas mucho más simples y presentan dificultades en tareas que requieren procesamiento cognitivo complejo. En la deglución, se presenta una disfagia que progresa a medida que avanza la enfermedad. Una intervención fonoaudiológica oportuna, integral y eficaz es fundamental para mejorar la calidad de vida de las personas y contribuir a su bienestar comunicativo.

Huntington’s disease (HD) has been described as a genetic condition caused by a mutation in the CAG (cytosine-adenine-guanine) nucleotide sequence. Depending on the stage of the disease, people may have difficulties in speech, language and swallowing. The purpose of this paper is to describe these difficulties in detail, as well as to provide an account on speech and language therapy approach to this condition. Regarding speech, it is worth noticing that characteristics typical of hyperkinetic dysarthria can be found due to underlying choreic movements. The speech of people with HD tends to show shorter sentences, with much simpler syntactic structures, and difficulties in tasks that require complex cognitive processing. Moreover, swallowing may present dysphagia that progresses as the disease develops. A timely, comprehensive and effective speech-language intervention is essential to improve the quality of life of people and contribute to their communicative welfare.

Referencias

Bhattacharyya K. The story of George Huntington and his disease. Ann Indian Acad Neurol. 2016;19(1):25-8. http://doi.org/b8fq.

Rodríguez-Pupo JM, Díaz-Rojas YV, Rojas-Rodríguez Y, Rodriguez-Batista Y, Núñez-Aris E. Actualización en Enfermedad de Huntington. CCM. 2013;17:546-57.

Neylan TC. Neurodegenerative disorders: George Huntington’s description of hereditary chorea. J Neuropsychiatry Clin Neurosci. 2003;15(1):108. http://doi.org/b8fr.

Das UN, Vaddadi KS. Essential fatty acids in Huntington’s disease. Nutrition. 2004;20(10):942-7. http://doi.org/bwxqrp.

Jones AL, Wood JD, Harper PS. Huntington disease: advances in molecular and cell biology. J Inherit Metab Dis. 1997;20(2):125-38. http://doi.org/crj4mc.

Harper B. Huntington disease. J R Soc Med. 2005;98(12):550. http://doi.org/fs82k6.

Walker FO. Huntington’s disease. Lancet. 2013;369(9557):218-228. http://doi.org/dsrdpw.

Fernández Hawrylak M, Grau C, Trigo P. Impacto de la enfermedad de Huntington en la familia. An Sist. Sanit. Navar. 2012;35(2):295-307.

Vásquez-Cerdas M, Campos-Ramírez D, Gutiérrez-Doña B, Fernández-Morales H, Morales-Montero F, Cuenca-Berger P. Abordaje integral de pacientes costarricenses afectados con la enfermedad de Huntington y sus familiares. Acta Med. Costarric. 2011;53(3):136-43.

van Duijn E. Psychopathology in Huntington’s Disease. Netherlands: BWS-Excelsior; 2010.

Arango-Lasprilla JC, Iglesias-Dorado J, Lopera F. Características clínicas y neuropsicológicas de la enfermedad de Huntington: una revisión. Rev. Neurol. 2003;37(8):758-65.

Meza-Escobar LE, Orozco JL, Takeuchi Y, Ariza Y, Pachajoa H. Retraso en el diagnóstico de un cuadro grave de enfermedad de Huntington juvenil: Un reporte de caso. Arch Argent Pediatr. 2014;112(1):e23-6. http://doi.org/b8h9.

Ho A, Hocaoglu M. Impact of Huntington’s across the entire disease spectrum: the phases and stages of disease from the patient perspective. Clin Genet. 2011;80(3):235-39. http://doi.org/d689b2.

Velasco-García MJ, Cobeta I, Martín G, Alonso-Navarro H, Jiménez-Jiménez FJ. Acoustic analysis of voice in Huntington’s disease patients. J Voice. 2011;25(2):208-17. http://doi.org/cpx3p6.

Hartelius L, Carlstedt A, Ytterberg M, Lillvik M, Laakso K. Speech disorders in mild and moderate Huntington disease: results of dysarthria assessments of 19 individuals. J Med Speech Lang Pathol. 2003;11(1):1-14.

Rusz J, Klempíř J, Baborová E, Tykalová T, Majerová V, Čmejla R, et al. Objective acoustic quantification of phonatory dysfunction in Huntington’s Disease. PloS One. 2013;8(9):e65881. http://doi.org/b8jb.

Rusz J, Saft C, Shlegel U, Hoffman R, Skodda S. Phonatory dysfunction as a preclinical symptom of Huntington Disease. PloS One. 2014;19(11):e113412. http://doi.org/b8jc.

Hamilton A, Ferm U, Heemskerk A-W, Twiston-Davies R, Matheson KY, Simpon SA, et al. Management of speech, language and communication difficulties in Huntington’s disease. Neurodegen Dis Manage. 2012;2(1):67-77. http://doi.org/b8jd.

Vogel AP, Shirbin C, Churchyard AJ, Stout JC. Speech acoustic markers of early stage and prodromal Huntington’s disease: a marker of disease onset? Neuropsychologia. 2012;50(14): 3273-8. http://doi.org/f4jgkv.

Kaploun LR, Saxman JH, Wasserman P, Marder K. Acoustic analysis of voice and speech characteristics in presymptomatic gene carriers of Huntington’s disease: biomarkers for preclinical sign on set?. J Med Speech Lang Pat. 2011;19(2):49-63.

Garcia-Ruiz PJ, Ayerbe J, del Val J, Herranz A. Deep brain stimulation in disabling involuntary vocalization associated with Huntington’s disease. Parkinsonism Relat Disord. 2012;18(6):803-4. http://doi.org/b8jf.

Wisniecki A, Cannizzaro MS, Cohen H, Snyder PJ. Speech Impairments in Neurodegenerative Diseases/Psychiatric Illnesses. In: Brown K, editor. Encyclopedia of Language & Linguistics. 2nd edition. Elsevier; 2006; 758-64. http://doi.org/cscjhb.

Ferm U, Sahlin A, Sundin L, Hartelius L. Using Talking Mats to Support Communication in Persons with Huntington’s Disease. Int J Lang Commun Disord. 2010;45(5):523-36. http://doi.org/d2t7zr.

Hartelius L, Jonsson M, Rickeberg A, Laakso K. Communication and Huntington’s disease: qualitative interviews and focus groups with persons with Huntington’s disease, family members, and carers. Int J Lang Commun Disord. 2010;45(3):381-93. http://doi.org/dnqsw4.

Saldert C, Fors A, Ströberg S, Hartelius L. Comprehension of complex discourse in different stages of Huntington’s disease. Int J Lang Commun Disord. 2010;45(6),656-69. http://doi.org/fwjvs4.

Chenery HJ, Copland DA, Murdoch BE. Complex language functions and subcortical mechanisms: evidence from Huntington’s disease and patients with non-thalamic subcortical lesions. Int J Lang Commun Disord. 2002;37(4):459-74. http://doi.org/bxbqwn.

Dayalu P, Albin R. Huntington Disease Pathogenesis and Treatment. Neurol Clin. 2015; 33(1): 101-14. http://doi.org/bxbqwn.

Moskowitz CB, Marder K. Palliative Care for People with late-stage Huntington´s disease. Neurol Clin. 2001;19(4):849-65. http://doi.org/b4wjzx.

Murray LL. Spoken Language Production in Huntington`s and Parkinson`s Diseases. J Speech Lang Hear Res. 2000;43(6):1350-66.

Murray LL, Lenz LP. Productive Syntax Abilities in Huntington’s and Parkinson’s Diseases. Brain Cogn. 2001;46(1-2):213-9.

Jensen AM, Chenery HJ, Copland DA. A comparison of picture description abilities in individuals with vascular subcortical lesions and Huntington’s Disease. J Commun Disord. 2006;39(1):62-77. http://doi.org/bknsd5.

Nemeth D, Dye CD, Sefcsik T, Janacsek K, Turi Z, Londe, Z, et al. Language deficits in pre-syntomatic Huntigton’s disease: Evidence from Hungarian. Brain Lang. 2012;121(3):248-53. http://doi.org/f3xjgr.

Ho A, Sahakian BJ, Robbins TW, Barker RA, Rosser AE, Hodges JR. Verbal fluency in Huntington´s disease: a longitudinal analysis of phonemic and semantic clustering and switching. Neuropsychologia. 2002;40(8):1277-84. http://doi.org/dzjzt6.

Almor A, Frank EM, Abrambon RK. Semantic impairments in naming concrete living and non living objects in patients with Huntington’s disease. Brain Lang. 2007;103(1-2):95-6. http://doi.org/bjdv7k.

Aziz NA, Anguelova GV, Marinus J, Van Dijk JG, Roos RA. Autonomic symptoms in patients and pre-manifest mutation carries of Huntington´s Disease. Eur J Neurol. 2010;17(8)1068-74.

http://doi.org/dkszs6.

Hamakawa S, Koda C, Umeno H, Yoshida Y, Nakashima T, Asaoka K, et al. Oropharyngeal dysphagia in case of Huntington´s disease. Auris Nasus Larynx. 2004;31(2):171-6. http://doi.org/fbjjsf.

Reyes A, Cruickshank T, Thompson J, Ziman M, Nosaka K. Surface electromyograph activity of submental muscles during swallowing and expiratory muscle training tasks in Huntington’s disease patients. J Electromyogr Kinesiol. 2014;24(1):153-8. http://doi.org/f5pxcn.

Kagel MC, Leopold NA. Dysphagia in Huntington’s disease: a 16-year retrospective. Dysphagia. 1992;7(2):106-14. http://doi.org/dszmsc.

Shoulson I, Fahn S. Huntington disease: Clinical Care and Evaluation. Neurology. 1979;29(1):1-3. http://doi.org/b8jg.

Heemskerk AW, Roos RA. Dysphagia in Huntington´s Disease: A Review. Dysphagia. 2011;26(1):62-6. http://doi.org/ftd8nx.

Heemskerk AW, Roos RA. Aspiration Pneumonia and Death in Huntington’s Disease. PLoS Curr. 2012;4:RRN1293. http://doi.org/b8jh.

Collis J, Bloch S. Survey of UK speech and language therapists’ assessment and treatment practices for people with progressive dysarthria. Int J Lang Commun Disord. 2012;47(6):725-37. http://doi.org/b8jj.

Heemskerk AW, Verbist BM, Marinus J, Heijnen B, Sjögren EV, Roos RA. The Huntington´s Disease Dysphagia Scale. Mov Disord. 2014;29(10):1312-6. http://doi.org/f6hdjs.

Veenhuizena RB, Tibbenb A. Coordinated multidisciplinary care for Huntington’s disease. An outpatient department. Brain Res Bull. 2009;80(4-5):192-5. http://doi.org/dgw67f.

Zinzi P, Salmaso D, De Grandis R, Graziani G, Maceroni S, Bentivoglio A, et al. Effects of an intensive rehabilitation programme on patients with Huntington’s disease: a pilot study. Clin Rehabil. 2007;21(7):603-13. http://doi.org/cnmwqk.

Nance M. Therapy in Huntington’s Disease: Where Are We? Curr Neurol Neuroscir Rep. 2012;12(4):359-66. http://doi.org/b8jk.

Logemann JA, Pauloski BR, Colangelo L, Lazarus C, Fujiu M, Kahrilas PJ. Effects of a sour bolus on oropharyngeal swallowing measures in patients with neurogenic dysphagia. J Speech Lang Hear Res. 1995;38(3):556-63. http://doi.org/b8jm.

Pelletier CA, Lawless HT. Effect of citric acid and citric acid-sucrose mixtures on swallowing in neurogenic oropharyngeal dysphagia. Dysphagia. 2003;18(4):231-41. http://doi.org/bkmxkt.

Clavé P, Arreola V, Romea M, Medina L, Palomera E, Serra-Prat M. Accuracy of the volume-viscosity swallow test for clinical screening of oropharyngeal dysphagia and aspiration. Clin Nutr. 2008;27(6):806-15. http://doi.org/dv99cq.

Bilney B, Morris ME, Perry A. Effectiveness of physiotherapy, occupational therapy, and speech pathology for people with Huntington’s disease: a systematic review. Neurorehabil Neural Repair. 2007;17(1):12-24. http://doi.org/cxrfgv.

Dimensions

PlumX

Visitas a la página del resumen del artículo

3520

Descargas

Los datos de descarga aún no están disponibles.

Cómo citar

Camargo-Mendoza, M., Castillo-Triana, N., Fandiño Cardona, J. M., Mateus-Moreno, A., & Moreno-Martínez, M. (2017). Características del habla, el lenguaje y la deglución en la enfermedad de Huntington. Revista De La Facultad De Medicina, 65(2), 343-348. https://doi.org/10.15446/revfacmed.v65n2.57449

Licencia

Derechos de autor 2017 Revista de la Facultad de Medicina

Creative Commons License

Esta obra está bajo una licencia Creative Commons Reconocimiento 3.0 Unported.

-