Bibliographic Details
| Title: |
The intellectual developmental disorders Mexico study: situational diagnosis, burden, genomics and intervention proposal. |
| Alternate Title: |
Estudio sobre trastornos del desarrollo intelectual en México: diagnóstico situacional, carga, genómica y propuesta de intervenciones. |
| Authors: |
Lazcano-Ponce, Eduardo1, Katz, Gregorio1,2, Rodríguez-Valentín, Rocío1 rocio.rodriguez@insp.mx, de Castro, Filipa1, Allen-Leigh, Betania1, Márquez-Caraveo, María Elena3, Ramírez-García, Miguel Ángel3, Arroyo-García, Eduardo3, Medina-Mora, María Elena4, Ángeles, Gustavo5, Urquieta-Salomón, José Edmundo6, Salvador-Carulla, Luis7 |
| Source: |
Salud Pública de México. nov/dec2016, Vol. 58 Issue 6, p694-707. 14p. 3 Diagrams. |
| Subjects: |
INTELLECTUAL development, GENOMICS, HEALTH surveys, PUBLIC health, MEDICAL care costs |
| Geographic Terms: |
MEXICO |
| Abstract (English): |
Objective. This study aims to generate evidence on intellectual development disorders (IDD) in Mexico. Materials and methods. IDD disease burden will be estimated with a probabilistic model, using population-based surveys. Direct and indirect costs of catastrophic expenses of families with a member with an IDD will be evaluated. Genomic characterization of IDD will include: sequencing participant exomes and performing bioinformatics analyses to identify de novo or inherited variants through trio analysis; identifying genetic variants associated with IDD, and validating randomly selected variants by polymerase chain reaction (PCR) and sequencing or real-time quantitative PCR (qPCR). Delphi surveys will be done on best practices for IDD diagnosis and management. An external evaluation will employ qualitative case studies of two social and labor inclusion programs for people with IDD. Conclusions. The results will constitute scientific evidence for the design, promotion and evaluation of public policies, which are currently absent on IDD. [ABSTRACT FROM AUTHOR] |
| Abstract (Spanish): |
Objetivo. Esta investigación busca generar evidencia sobre trastornos del desarrollo intelectual (TDI) en México. Material y métodos. La carga de la enfermedad por TDI se estimará con un modelo probabilístico usando encuestas poblacionales. Se estimarán costos directos e indirectos de gastos catastróficos de familias con un integrante con TDI. La caracterización genómica de TDI incluirá secuenciar exomas, realizar análisis bioinformático para identificar variantes de novo o heredadas a través de análisis de tríos, identificar variantes genéticas asociadas con TDI, y validar variantes aleatoriamente seleccionadas con reacción en cadena de polimerasa y secuenciación o qPCR. Se harán encuestas Delphi sobre mejores prácticas de diagnóstico y manejo de TDI. Una evaluación externa empleará estudios cualitativos de caso de dos programas de inclusión social y laboral para personas con TDI. Conclusiones. Los resultados serán evidencia científica que podrá ser la base para el diseño, promoción y evaluación de políticas públicas, actualmente ausentes para TDI. [ABSTRACT FROM AUTHOR] |
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| Database: |
MedicLatina |
