Características gerais da doença de Huntington e os desafios com a vida cotidiana: uma revisão da literatura / General characteristics of Huntington's disease and the challenges with everyday life: a literature review

Objetivos: Apresentar as características gerais da DH e os principais desafios encarados no cotidiano pelos portadores. Método: foi realizada uma revisão de literatura na qual foram considerados artigos científicos embasados em banco de dados (PubMed, Scielo, Lilacs e diretório Google Acadêmico), artigos entre anos de 2007 a 2022, publicados em todos os idiomas, e aplicados os seguintes descritores: Huntington's Disease Treatment; Genetics foram incluídos. Resultado: após a inclusão de 21 artigos utilizados, foi observado a significância de elevado índice mundial da DH, que acomete população em geral, porém há probabilidade que seja mais de herança paterna do que materna, devido à formação dos espermatozoides, principalmente quando se manifestam na fase juvenil de forma acelerada. Embora sejam desvendadas alternativas para terapia paliativa medicamentosa, há, também, a terapia física, o que auxilia a possibilidade de evolução na saúde desses indivíduos. Porém, prosseguem as pesquisas relacionadas às condutas melhores na qualidade de vida dessa população. Conclusão: Esta revisão evidencia a importância para doenças neurodegenerativas pouco vistas e comentadas, como a DH, mas que carece de esclarecimentos que auxiliem, com eficácia, tanto na recuperação, como no processo de habilidades da existência desses portadores com DH.

Objectives: to present the general characteristics of HD and the main challenges faced in daily life by patients. Method: a literature review was conducted in which scientific articles were considered based on databases (PubMed, Scielo, Lilacs, and Google Scholar directory), articles between 2007 and 2022, published in all languages, and the following descriptors were applied: Huntington's Disease Treatment; Genetics were included. Result: after the inclusion of 21 articles, it was observed the significance of the high worldwide HD index, which affects the general population, but there is a probability that it is more paternal than maternal inheritance due to sperm formation, especially when they manifest in the juvenile phase in an accelerated manner. Although alternatives for palliative drug therapy are unveiled, there is also physical therapy, which helps the possibility of evolution in the health of these individuals. However, the researches related to the best conducts in the quality of life of this population continue. Conclusion: this review highlights the importance of little-seen and commented neurodegenerative diseases, such as HD, but that lacks clarification that effectively assists, both in recovery and in the process of abilities of the existence of these patients with HD.

Theory of mind impairment in Huntington's disease patients and their relatives / Déficits en teoría de la mente en pacientes con enfermedad de Huntington y sus familiares

ABSTRACT Huntington disease (HD) is an autosomal dominant genetic disorder characterized by movement disorders, cognitive impairment, and psychiatric symptoms. Relatives of HD patients experience a great burden as the latter suffer from altered social conduct and deterioration of interpersonal relationships. Theory of mind (ToM) is the ability to attribute mental states (to oneself and others). Deficits in ToM are thought to have a role in the changes in empathy and interpersonal difficulties that HD patients face. Methods: We conducted a cross sectional study to compare ToM task scores of patients with mild to moderate HD, their relatives (spouse or at-risk first-degree relative with a negative gene test) and controls.Individuals with dementia or depression were excluded. The ToM test battery included Spanish versions of the Reading Mind in the Eyes Test (RMET), Happé's Strange Stories (Social and Physical Stories subtests) and the Hinting Task. Results: The series comprised 12 HD patients, 12 relatives and 12 controls. The HD patients showed lower affective ToM scores than controls (RMET 19 [3.5] vs 23.9 [2.7], p = 0.016). Cognitive ToM tasks scores were lower in HD patients than controls as well (Happé's Social Stories 9 [2.6] vs 13 [1.9], p = 0.001; the Hinting Task 13.6 [3.4] vs 17.5 [4.0], p = 0.009). In the Hinting Task, HD relatives had lower scores in than controls (13 [3.2] vs 17.5 [4.0], p = 0.009) and similar scores to controls in the rest of the battery. Conclusion: The HD patients with mild to moderate disease severity and their relatives show ToM deficits.

RESUMEN La enfermedad de Huntington (EH) es una enfermedad genética autosómica dominante caracterizada por trastornos del movimiento, deterioro cognitivo y síntomas psiquiátricos. Los familiares de las personas con EH experimentan gran carga dado que los pacientes sufren de conducta social alterada y deterioro de relaciones interpersonales. La Teoría de la mente (ToM) consiste en la habilidad para atribuir estados mentales (a uno mismo o a otros). Se piensa que déficits en ToM tienen un rol en los cambios en empatia y en las dificultades interpersonales que los pacientes con EH enfrentan. Métodos: Condujimos un estudio transversal para comparar el desempeño en puntajes de tareas de ToM en pacientes con EH leve a moderada, sus familiares (pareja o familiar en riesgo con prueba genética negativa) y controles sanos. Se excluyó a sujetos con demencia o depresión. La batería de pruebas de ToM incluyó versiones en español de la prueba de lectura de la mente en los ojos (RMET), Historias Extrañas de Happé (subpruebas Social y Física) y Hinting Task. Resultados: La serie consistió de 12 pacientes con EH, 12 familiares y 12 controles. Los pacientes con EH mostraron puntajes menores de tareas de ToM afectiva que los controles (RMET 19 [3.5] vs 23.9 [2.7], p = 0.016). Los puntajes de tareas de ToM cognitiva fueron inferiores a los controles en los pacientes con EH (Historias Sociales de Happé 9 [2.6] vs 13 [1.9], p = 0.001; Hinting task 13.6 [3.4] vs 175 [4.0], p = 0.009). En la Hinting task los familiares de pacientes con EH mostraron puntajes inferiores que los de los controles (13 [3.2] vs 175 [4.0], p = 0.009) y puntajes similares a aquellos de los controles en el resto de la batería. Conclusión: Los pacientes con EH con enfermedad leve a moderada y sus familiares muestran déficits en tareas de ToM.

Mid- and long-term anxiety levels associated with presymptomatic testing of Huntington's Disease, Machado-Joseph Disease, Machado-Joseph disease, and familial amyloid polyneuropathy

Objective: To study anxiety as a variable of the mid- and long-term psychological impact of pre-symptomatic testing for three autosomal dominant late-onset disorders – Huntington’s disease (HD), Machado-Joseph disease (MJD) and familial amyloid polyneuropathy (FAP) TTR V30M – in a Portuguese sample. Methods: This cross-sectional study included 203 participants: 170 (83.7%) underwent pre-symptomatic testing for FAP, 29 (14.3%) for HD, and 4 (2%) for MJD. Of the 203 participants, 73 (36.0%) were asymptomatic carriers, 29 (14.5%) were symptomatic carriers, 9 (4.5%) were diagnosed with FAP and had a liver transplant, and 89 (44.5%) were non-carriers. Most were women (58.1%) and married (66.5%). The anxiety variable was assessed using the Zung Self-Rating Anxiety Scale (SAS). Results: The anxiety scores were higher for symptomatic carriers and for those who underwent psychological support consultations over the years. For symptomatic carriers, the mean scores were superior to 40 points, which reflects clinical anxiety. Conclusion: Although it was not possible to differentiate between the mid- and long-term psychological impacts, this study supports the conclusion that the proximity to the age of symptoms onset might be a trigger for anxiety.

Predictive and prenatal diagnosis of Hunington's disease: attitudes of mexican neurologists, psychiatrists, and psychologists

Background. Huntington's disease (HD) is a hereditary disease of the central nervous system. Its molecular diagnosis has allowed predictive and prenatal diagnosis to be done, and it is now a model for the study of the ethical, legal, and social problems arising from the diagnosis of such diseases. Methods. This study explores the knowledge and attitudes of a groups of Mexican specialistis regarding the disease and its diagnosis. A self-administered, 30-item multiple-choice questionnaire was completed anonymously by neurologists, psychiatrists, and psychologists. Results. Fifty-five percent of the professionals had experience with HD patients, 59 percent claimed to know the hereditary risk, and 20 percent answered incorrectly concerning the risks. Neurologists had the most exposure to HD; 74 percent acknowledged the existence of predictive diagnosis, although only 10 percent knew the international guidelines for testing. Eighty-six percent of the participants recommended predictive diagnosis, the reasons being: 55 percent, if the patients considered having offspring; 41 percent, for the patients's professional reasons; 6 percent, if a treatment was available, and 12 percent did not answer. In cases in which the patient wanted to have offspring, 38 percents thought that this should be avoided. Thirty-six percent of the subto have offspring, 38 percent thought that this should be avoided. Thirty-six percent of the subjects considered prenatal diagnosis justified in a couple with a carrier, and 51 percent justified abortion affected fetuses. Conclusions. Genetic counseling and predictive diagnosis in Mexico must be the responsibility of genetic units and specialists who are of inheritance risks and of guidelines for HD programs. The number of patients requiring such attention is increasing rapidly

Neuropsicologia da doença de Huntington: Fatores preditivos em familiares geneticamente positivos e assintomáticos

Resumo: A doença de Huntington é uma patologia neurodegenerativa, autossômica dominante, caracterizada por distúrbio do movimento, transtornos psiquiátricos e demência. A doença evolui de forma insidiosa, e as alteraçöes neuropsicológicas podem anteceder em até 10 anos o início clínico. Desta forma, a detecçäo de alteraçöes neuropsicológicas deveria permitir dos indivíduos assintomáticos positivos e negativos. Este é o objetivo deste trabalho. Uma amostra de 350 indivíduos, provenientes de 57 famílias, foi selecionada para a realizaçäo deste trabalho, embora apenas 218 indivíduos tenham se tornado casos válidos. Estes estäo divididos em 125 mulheres e 93 homens. O grupo feminino é discretamente mais jovem, enquanto o grupo masculino apresenta escolaridade mais baixa. Todos os 218 indivíduos foram submetidos ao protocolode avaliaçäo de demência subcortical e teste de DNA. Entretanto, nem todos puderam realizar Tomografia computadorizada de crânio, Cintilografia de perfusäo cerebral, Potencial evocado e E.E.G. . O exame neuropsicológico e o exame genético foram realizados pelo método de duplo cego. Os indivíduos deste estudo foram divididos em 3 grupos segundo o tempode escolaridade (0 1 7 anos; 8 a 14 anos;15 ou + anos de escolaridade). Cada um destes grupos foi subdividido segundo o desempenho no protocolo de avaliaçäo neuropscológica e o resultado do exame de DNA (+ sintomático, + assintomático e - assitomático).

Curso de Neuropsicologia. IV: Neuropsicologia do envelhecimento normal e das demências / Neuropsychology of normal aging and dementias

O autor discute os principais aspectos neuropsicológicos do envelhecimento normal e das demências, apresentando dois casos de demência degenerativa primária

Estudio de una familia con Corea de Huntington en Cañete / Study of a family with Huntington's Chorea in Cañete

De 14 familias con Corea de Huntington (C.H.) identificadas en el Valle de Cañete, se estudia una, integrada por 392 personas y en la que se encuentra 30 pacientes; 16 hombres y 14 mujeres, y 2 sospechosos. La enfermedad habría aparecido en esta familia hace 120 a 150 años. Los apellidos y los rasgos físicos corresponden todos a mestizos. Se recomienda el estudio de las tres últimas generaciones, compuestas por sujetos menores de 30 años. Se considera que a partir del Valle de Cañete se habría extendido la Corea de Huntington en el Perú. En el presente trabajo no se estudiaron los aspectos psiquiátricos de la enfermedad

Aspectos psiquiátricos de pacientes con enfermedad de Huntington y sus descendientes: estudio preliminar / Psychiatric aspects of patients with Huntington's disease and their offsprings: preliminary report

Se realizó evaluación psiquiátrica a 12 individuos de los cuales 5 corresponden a casos de Enfermedad de Huntington, y 7 a hijos de enfermos coreicos. Los criterios del DSM-III fueron aplicados para establecer los diagnósticos. En 5 enfermos coreicos y 6 descendientes se observaron trastornos psiquiátricos representados por trastornos en el área afectiva, diagnosticados como Trastornos Distímicos y Depresión Mayor, así como un caso de Depresión Atípica; se describen trastornos de la personalidad en un caso de descendiente de coreiro; así como 2 casos de Psicosis Atípica, uno de los cuales es enfermo coreico. Otro hallazgo importante lo constituye una disminución de la actividad sexual en 3 pacientes coreicos y 3 descendientes