[Mental disorders in patients with spinocerebellar ataxia type 2 in Cuba]. / Trastornos mentales en pacientes con ataxia espinocerebelosa tipo 2.

INTRODUCTION: Of the different hereditary ataxias present in Cuba, spinocerebellar ataxia type 2 (SCA2) is the most prevalent molecular type. Over the last years a great amount of progress has been made in clinical, epidemiological, molecular and neurophysiological research. Yet, the main psychiatric disorders that appear in these patients remain unknown. Their proper diagnosis will help to draw up a program of individualized therapeutic interventions for each disorder and will allow the patient to cope better with his or her illness and to take part in an effective physical and psychological rehabilitation program. AIMS. To identify the mental disorders that appear in patients suffering from SCA2. PATIENTS AND METHODS: We conducted a descriptive study of series of cases in 150 patients with SCA2. Data was obtained by means of a semi structured interview with patients and their relatives, as well as a thorough psychiatric exploration, which enabled us to sort the symptoms according to spheres. A battery of psychometric tests and the diagnostic and research criteria for the international classification of mental illnesses were also used. RESULTS: Findings showed that 88% of those studied present at least one clinical manifestation related with mental disorders. These included, essentially, disorders involving adaptation, sleep, mood and sexual disorders. Mental retardation and dementia were other alterations that were diagnosed. CONCLUSIONS: Disorders in the psychic sphere are a part of the SCA2 phenotype

Trastornos mentales en pacientes con ataxia espinocerebelosa tipo 2 / Mental disorders in patients with spinocerebellar ataxia type 2 in cuba

Introducción. La ataxia espinocerebelosa tipo 2 (SCA2) representa la forma molecular de mayor prevalencia en Cuba dentro de las ataxias hereditarias. En los últimos años se ha avanzado vertiginosamente en las investigaciones clínicas, epidemiológicas, moleculares y neurofisiológicas; sin embargo, no se conocen los principales trastornos psiquiátricos que aparecen en este tipo de pacientes, cuyo diagnóstico oportuno contribuirá a elaborar un programa de intervención terapéutica individualizada para cada trastorno, y permitirá un mejor enfrentamiento del paciente con su enfermedad y su incorporación a un programa efectivo de rehabilitación física y psicológica. Objetivos. Identificar los trastornos mentales que se presentan en los enfermos de SCA2. Pacientes y métodos. Se realizó un estudio descriptivo de series de casos en 150 enfermos de SCA2. Los datos se obtuvieron a través de una entrevista semiestructurada a los enfermos y familiares, además de un minucioso examen psiquiátrico, que permitieron dividir los síntomas por esferas; también se utilizó una batería de pruebas psicométricas, así como los criterios diagnósticos e investigativos para la clasificación internacional de enfermedades mentales. Resultados. Se obtuvo que el 88 por ciento de los investigados presenta al menos una manifestación clínica relacionada con trastornos mentales, dentro de los cuales se encontraron, fundamentalmente, los trastornos adaptativos, del sueño, del estado de ánimo y los trastornos sexuales; el retraso mental y la demencia fueron otras de las alteraciones que se diagnosticaron. Conclusiones. Los trastornos en la esfera psíquica forman parte del fenotipo de la SCA2 (AU)

Trastornos mentales en pacientes con ataxia espinocerebelosa tipo 2 / Mental disordess in patients with spinocerebellar ataxia type 2 in Cuba

Of the different hereditary ataxias present in Cuba, spinocerebellar ataxia type 2 (SCA2) is the mostprevalent molecular type. Over the last years a great amount of progress has been made in clinical, epidemiological, molecularand neurophysiological research. Yet, the main psychiatric disorders that appear in these patients remain unknown. Their properdiagnosis will help to draw up a program of individualized therapeutic interventions for each disorder and will allow the patientto cope better with his or her illness and to take part in an effective physical and psychological rehabilitation program. Aims.To identify the mental disorders that appear in patients suffering from SCA2. We conducted a descriptive study of series of cases in 150 patients with SCA2. Data was obtained by means of a semi-structured interview with patients andtheir relatives, as well as a thorough psychiatric exploration, which enabled us to sort the symptoms according to spheres. Abattery of psychometric tests and the diagnostic and research criteria for the international classification of mental illnesses werealso used. Findings showed that 88 percent of those studied present at least one clinical manifestation related with mentaldisorders. These included, essentially, disorders involving(AU)