Estrategia metodológica de asesoramiento genético para la prevención del retraso mental multifactorial con agregación familiar Methodological strategy in genetic advisorship for preventing the multifactorial mental retardation with family aggregation

Authors

  • María J. Fuentes Camargo Especialista de 1er grado en Genética Clínica. Profesora Auxiliar. Centro Provincial de Genética Médica Pinar del Río.
  • Prisca Saray Núñez Millán Especialista de 1er grado en Medicina General Integral. Máster en Asesoramiento Genético. Centro Provincial de Genética Médica Pinar del Río.
  • Estrella Labrador Rodríguez Especialista de 1er grado en Medicina General Integral. Máster en Asesoramiento Genético. Centro Provincial de Genética Médica Pinar del Río.
  • Ileana A. Díaz Hernández Lic. en Enfermería. Máster en Asesoramiento Genético. Centro Provincial de Genética Médica Pinar del Río.
  • Adeliz Castro Montesino Especialista de 1er grado en Medicina General Integral. Máster en Asesoramiento Genético. Centro Provincial de Genética Médica Pinar del Río.

Abstract

La OMS estima que al menos el 10% de la población iberoamericana está afectada por algún tipo de discapacidad, entre ellas el retraso mental, que es una discapacidad frecuente, algunos estiman que la padece hasta el 3% de la población mundial, por lo que la prevención en el nivel primario de salud es de trascendental importancia. Método Se realizó un estudio ambispectivo del informe final del "Estudio psicosocial de las personas con discapacidades y estudio genético de las personas con retraso mental" a nivel de provincia, estudiando los instrumentos clasificadores del retraso mental y de las discapacidades de origen prenatal, seleccionándose el Consejo Popular Crucero de Echevarría como el de mayor tasa de retraso mental de etiología prenatal en el municipio Consolación del Sur, Se confeccionó el árbol genealógico de las familias y a partir de estos se propuso una estrategia metodológica de asesoramiento genético para prevenir el retraso mental prenatal genético multifactorial con agregación familiar. La muestra fue el total de pacientes retrasados mentales de causa prenatal residentes en ese Consejo: 37 personas (62,5% del total de los retrasados mentales) se utilizó como método estadístico el análisis porcentual simple. Resultados dentro de las causas prenatales, la genética fue la de mayor porciento (74%) y la multifactorial fue la más frecuente entre ellas con 31 individuos (83,78%). Observándose la agregación familiar como principal asociación, que resultó ser el más frecuente. Concluyendo que la intersectorialidad será un importante pilar para el cumplimiento de los objetivos propuestos.

Palabras clave: RETARDO MENTAL/ prevención y control, GENETICA MEDICA, FAMILIA.

ABSTRACT

Introduction: Mental retardation is a frequent disability and some authors consider that it is a disorder suffered by 3% in the world, so prevention in primary level of health is very important. Method: A study on the final report "Psychosocial study of the disabled people and a genetic study of the mentally retarded people" was performed in the province, studying the rating instruments of mental retardation as well as the disabilities of antenatal origin, and Crucero de Echevaría Popular Council was selected as the higher rate of mental retardation from antenatal etiology in Consolación del Sur Municipality. A pedigree of the families was designed, and according to this a proposal on methodological strategy of genetic advisorship was made for preventing the multifactorial genetic antenatal mental retardation plus familial aggregation. The sample comprised the total of patients suffering from mental retardation antenatally and they lived in this council (37 inhabitants, 62.5% of the total suffering mental retardation). The simple percentage analysis was used as the statistical method. Results: Among the antenatal causes, the genetic one had the highest number (74%), and the multifactorial one, the most frequent, 31 individuals (83,78%), being the familial aggregation the main aggregation, as well as the most frequent, too. A methodology was designed for preventig the multifactorial mental retardation plus familial aggregation. Conclusions: The intersectoriality will be an important hallmark for fulfilling the goals proposed in our methodology for prevention.

Key words: MENTAL RETARDATION/prevention and control, MEDICAL GENETICS, FAMILY.


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How to Cite

1.
Fuentes Camargo MJ, Núñez Millán PS, Labrador Rodríguez E, Díaz Hernández IA, Castro Montesino A. Estrategia metodológica de asesoramiento genético para la prevención del retraso mental multifactorial con agregación familiar Methodological strategy in genetic advisorship for preventing the multifactorial mental retardation with family aggregation. Rev Ciencias Médicas [Internet]. 2012 Oct. 12 [cited 2025 Aug. 30];11(3):96-112. Available from: https://revcmpinar.sld.cu/index.php/publicaciones/article/view/328

Issue

Vol. 11 No. 3 (2007)

Section

ORIGINAL ARTICLES

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