Avaliação funcional e motora em uma coorte brasileira com doença de Huntington
DOI:
https://doi.org/10.34024/rnc.2022.v30.13713Palavras-chave:
avaliação da deficiência, atividades cotidianas, doença de Huntington, Transtornos das Habilidades Motoras, Transtornos dos MovimentosResumo
Introdução. Este estudo avaliou os resultados obtidos na aplicação das escalas clínicas utilizadas para avaliação da progressão da doença de Huntington (DH), tais como a Functional Independence Measure (FIM), o Modified Barthel Index (MBI), a Unified Huntington's Disease Rating Scale (UHDRS), comparando o desempenho motor de participantes brasileiros com DH com o do Grupo de Referência (GR). Método. Trata-se de um estudo quantitativo observacional transversal. A sensibilidade e especificidade das escalas MBI e MIF foram calculadas usando a escala UHDRS como escala de referência. Resultados. A média de idade de início da DH foi de 41,6±8,3 anos com mediana de duração da doença de 11 anos. O GR teve 22 indivíduos com idade de 51,5±7,6 anos e o grupo DH (n=22) 51,5±8,4 anos. As mulheres do grupo DH foram mais afetadas em suas habilidades funcionais e motoras em relação ao GR (p<0,001). Conclusões: Até onde sabemos, esta é a primeira vez que um estudo aplicou a MIF em participantes em DH. A MIF e o MBI podem ser aplicadas para avaliar o desempenho funcional, já que quando comparamos com os resultados das seções funcionais da UHDRS observamos resultados semelhantes (p<0,01). As escalas FIM e MBI são de fácil aplicação e podem ser bons instrumentos para avaliar o desempenho funcional dos pacientes. Sugerimos que podem ser úteis em programas de reabilitação, mas são necessários estudos mais aprofundados para tal.
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Tumas V, Teixeira Camargos S, Samandar Jalali P, De Paula Galesso A, Marques W. Internal consistency of a Brazilian version of the Unified Huntington’s Disease Rating Scale. Arq Neuropsiquiatr 2004;62:977-82. https://doi.org/10.1590/s0004-282x2004000600009
Rawlins MD, Wexler NS, Wexler AR, Tabrizi SJ, Douglas I, Evans SJW, et al. The Prevalence of Huntington’s Disease. Neuroepidemiol 2016;46:144-53. https://doi.org/10.1159/000443738
Alencar MA, Lopez AM, Figueiredo E, Porciúncula CG, Monlleó I. E05 Prevalence of Huntington’s disease in Feira Grande, a small city in Northeastern Brazil. J Neurol Neurosurg Psychiatry 2010;81(Suppl 1):A22. https://doi.org/10.1136/JNNP.2010.22638.5
Furtado LETA, Carneiro SAF, Cardoso-Dos-Santos AC, Magalhaes SC, Filho JRMC. Geographic Clusters of Huntington’s Disease in Northwestern Ceará: a Preliminary Analysis. Neurotherapeutics 2020;17:S1-41. https://www.researchgate.net/publication/356694274_Geographic_Clusters_of_Huntington's_Disease_in_Northwestern_Ceara_a_Preliminary_Analysis/link/61a7bfef092e735ae2d2f167/download
Agostinho LA, Silva IS, Maia LA, Azevedo MA, FAria TMRO, Apolinario TA, et al. A study of a geographical cluster of Huntington’s disease in a Brazilian town of Zona da Mata, Minas Gerais State. Eur Neurol 2015;74:62-8. https://doi.org/10.1159/000434630
Castilhos RM, Santos JA, Augustin MC, Pedroso JL, Barsotini O, Saba R, et al. Minimal prevalence of Huntington’s disease in the South of Brazil and instability of the expanded CAG tract during intergenerational transmissions. Genet Mol Biol 2019;42:329-36. https://doi.org/10.1590/1678-4685-GMB-2018-0032
Kremer B, Weber B, Hayden MR. New Insights Into the Clinical Features, Pathogenesis and Molecular Genetics of Huntington Disease. Brain Pathol 1992;2:321-35. https://doi.org/10.1111/j.1750-3639.1992.tb00709.x
Wheeler VC, Persichetti F, Mcneil SM, Mysore SS, MacDonald ME, Myers RH, et al. Factors associated with HD CAG repeat instability in Huntington disease. J Med Gen 2007;44:695-701. https://doi.org/10.1136/jmg.2007.050930
Goldberg YP, Kremer B, Andrew SE, Theilmann J, Graham RK, Squitieri F, et al. Molecular analysis of new mutations for Huntington’s disease: intermediate alleles and sex of origin effects. Nat Genet 1993;5:174-9. https://doi.org/10.1038/ng1093-174
Nahhas FA, Garbern J, Krajewski KM, Roa BB, Feldman GL. Juvenile onset Huntington disease resulting from a very large maternal expansion. Am J Med Gen 2005;137:328-31.
https://doi.org/10.1002/ajmg.a.30891
Gusella JF, Wexler NS, Conneally PM, Naylor SL, Anderson MA, Tanzi RE, et al. A polymorphic DNA marker genetically linked to Huntington’s disease. Nature 1983;306:234-8. https://doi.org/10.1038/306234a0
Huntington Study Group. Unified Huntington’s Disease Rating Scale: reliability and consistency. Mov Disord 1996;11:136-42. https://doi.org/10.1002/mds.870110204
Quinn L, Busse M, Dal Bello-Haas V. Management of upper extremity dysfunction in people with Parkinson disease and Huntington disease: Facilitating outcomes across the disease lifespan. J Hand Ther 2013;26:148-55. https://doi.org/10.1016/j.jht.2012.11.001
Cardoso F, Seppi K, Mair KJ, Wenning GK, Poewe W. Seminar on choreas. Lancet Neurol 2006;5:589-602.
https://doi.org/10.1016/S1474-4422(06)70494-X
Quinn L, Reilmann R, Marder K, Gordon AM. Altered movement trajectories and force control during object transport in Huntington’s disease. Mov Disord 2001;16:469-80.
https://doi.org/10.1002/mds.1108
Quagliato EMAB, Marques MGN. Doença de Huntington. Guia Para Famílias e Profissionais de Saúde. Atibaia: Associação Brasil Huntington; 2009. https://abh.org.br/wp-content/uploads/biblioteca/Livros/livro_abh_guia_para_familias_e_profissionais_de_saude.pdf
Iansek R, Morris ME. Rehabilitation in Movement Disorders. Cambridge: Cambridge University Press; 2013.
https://doi.org/10.1017/CBO9781139012942
Beglinger LJ, O’Rourke JJF, Wang C, Langbehn DR, Duff K, Paulsen JS. Earliest functional declines in Huntington disease. Psychiatry Res 2010;178:414-8. https://doi.org/10.1016/j.psychres.2010.04.030
Quinn L, Busse M, Broad M, Dawes H, Ekwall C, Fritz N, et al. Physiotherapy Guidance Document. Eur Huntington’s Dis Netw 2010; pp1-178. https://www.hda.org.uk/media/1339/physiotherapy-guidance-doc-2009.pdf
Busse ME, Khalil H, Quinn L, Rosser AE. Physical therapy intervention for people with Huntington disease. Phys Ther 2008;88:820-31. https://doi.org/10.2522/ptj.20070346
Feigin A, Kieburtz K, Bordwell K, Como P, Steinberg K, Sotack J, et al. Functional decline in Huntington’s disease. Mov Disord 1995;10:211-4. https://doi.org/10.1002/mds.870100213
Ira Shoulson, Fahn S. Huntington disease: Clinical care and evaluation. Neurology 1979:29:1.
https://doi.org/10.1212/WNL.29.1.1
Riberto M, Miyazaki MH, Jorge Filho D, Sakamoto H, Battistella LR. Reprodutibilidade da versão brasileira da Medida de Independência Funcional. Acta Fisiátrica 2001;8:45-52.
https://doi.org/10.5935/0104-7795.20010002
Shah S, Vanclay F, Cooper B. Improving the sensitivity of the Barthel Index for stroke rehabilitation. Nucl Physics 1973;54:429-31. https://doi.org/10.1016/0550-3213(73)90429-X
Mahoney FI, Barthel DW. Functional Evaluation: the Barthel Index. Md State Med J 1965;14:61-5.
https://pubmed.ncbi.nlm.nih.gov/14258950/
Zielonka D, Marinus J, Roos RAC, De Michele G, Di Donato S, Putter H, et al. The influence of gender on phenotype and disease progression in patients with Huntington’s disease. Park Relat Disord 2013;19:192-7. https://doi.org/10.1016/j.parkreldis.2012.09.012
Aubeeluck A, Wilson E. Huntington’s disease. Part 1: essential background and management. Br J Nursing 2008;17:146-51. https://doi.org/10.12968/bjon.2008.17.3.28402
Busse ME, Wiles CM, Rosser AE. Mobility and falls in people with Huntington’s disease. J Neurol Neurosurg Psychiatry 2009;80:88. https://doi.org/10.1136/jnnp.2008.147793
Grimbergen YMA, Knol MJ, Bloem BR, Kremer BPH, Roos RAC, Munneke M. Falls and gait disturbances in Huntington’s disease. Mov Disord 2008;23:970-6. https://doi.org/10.1002/mds.22003
Rao AK, Muratori L, Louis ED, Moskowitz CB, Marder KS. Spectrum of gait impairments in presymptomatic and symptomatic Huntington’s disease. Mov Disord 2008;23:1100-7.
https://doi.org/10.1002/mds.21987
Peavy GM, Jacobson MW, Goldstein JL, Hamilton JM, Kane A, Gamst AC, et al. Cognitive and functional decline in Huntington’s disease: Dementia criteria revisited. Mov Disord 2010;25:1163-9. https://doi.org/10.1002/mds.22953
Bates GP, Dorsey R, Gusella JF, Hayden MR, Kay C, Leavitt BR, et al. Huntington disease. Nat Rev Dis Prim 2015;1:1-21. https://doi.org/10.1038/nrdp.2015.5
Fritz NE, Rao AK, Kegelmeyer D, Kloos A, Busse M, Hartal L, et al. Physical Therapy and Exercise Interventions in Huntington ’ s Disease : A Mixed Methods Systematic Review. J Huntington’s Dis 2017;6:217-35. https://doi.org/10.3233/JHD-170260
Ciancarelli I, Ciancarelli MGT, Carolei A. Effectiveness of intensive neurorehabilitation in patients with Huntington’s disease. Eur J Phys Rehabil Med 2013;49:189-95.
https://pubmed.ncbi.nlm.nih.gov/23480977/
Piira A, van Walsem MR, Mikalsen G, Nilsen KH, Knutsen S, Frich JC. Effects of a One Year Intensive Multidisciplinary Rehabilitation Program for Patients with Huntington’s Disease: A Prospective Intervention Study. PLoS Curr 2013;5:1-23. https://doi.org/10.1371/currents.hd.9504af71e0d1f87830c25c394be47027
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Copyright (c) 2022 Dionatan Costa Rodrigues, Gregory Youdan Jr., Carmen Lúcia Antão Paiva, Luciana Andrade Agostinho
Este trabalho está licenciado sob uma licença Creative Commons Attribution 4.0 International License.
Aceito: 2022-11-08
Publicado: 2022-12-13
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