Couples at risk for spinocerebellar ataxia type 2: the Cuban prenatal diagnosis experience

Cuba reports the highest worldwide prevalence of spinocerebellar ataxia type 2 (SCA2) and the greatest number of descendants at risk. A protocol for genetic counseling, presymptomatic testing, and prenatal diagnosis of hereditary ataxias has been under development since 2001. Considering that the revision of the experience with prenatal diagnosis for SCA2 in Cuba would enable comparison of ours with international findings, we designed a descriptive study, based on the retrospective revision of the medical records belonging to the 58 couples that requested their inclusion in the program, during an 11-year period (2001-2011). Most of the participants in the prenatal diagnosis program were known presymptomatic carriers, diagnosed through the presymptomatic testing in the same period of study, for an uptake among them of 22.87 percent (51 out of 223). In 28 cases, the fetuses were carriers, 20 of these couples (71.43 percent) decided to terminate the pregnancy; the rest continued the pregnancy to term, this resulting in a predictive test for their unborn children. A predominance of females as the at-risk progenitor was observed. Except for a slightly lower average age, the results attained in the Cuban SCA2 prenatal diagnosis program resulted similar to the ones reported for Huntington disease in other countries. It is necessary to have easy access to the Cuban program through its expansion to other genetic centers along the island. Future research is needed to evaluate the long-term impact of both the predictive testing in unborn children and the selection of other reproductive options by the at-risk couples (AU)

The Cuban program for predictive testing of SCA2: 11 years and 768 individuals to learn from.

Having reported the world's highest prevalence of spinocerebellar ataxia type 2 (SCA2), health professionals in Cuba developed a program for the predictive testing of this condition. Between February 2001 and December 2011, a total of 1050 individuals requested their inclusion in the presymptomatic testing (PST) program. Their medical records were retrospectively analyzed in the present descriptive study. A total of 768 participants completed the protocol, 204 withdrew and 78 were excluded. The PST uptake was 24.91%. Females predominated and 70.96% had negative test results. Their main motivations were risk assessment in their descendants, physical and psychological preparation to cope with the disease and planning for the future. The profile of Cuban participants in the predictive testing program is similar to the one reported for other programs all over the world, nevertheless the genetic counseling practice at the community level is a distinctive aspect, which is valuable in providing at-risk individuals with wide and proper knowledge before their testing inclusion request. The SCA2 predictive testing program has high uptake rates and is renowned in our population. Future research is needed to assess the long-term psychological impact in the participants, their partners and relatives.

[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)