the intellectual developmental disorders mexico study: situational diagnosis, burden, genomics and intervention proposal

the intellectual developmental disorders mexico study: situational diagnosis, burden, genomics and intervention proposal

;Eduardo Lazcano-Ponce;Gregorio Katz;Rocío Rodríguez-Valentín;Filipa de Castro;Betania Allen-Leigh;Maria Elena Márquez-Caraveo;Miguel Angel Ramírez-García;Eduardo Arroyo-García;Maria Elena Medina-Mora;Gustavo Angeles;José Edmundo Urquieta-Salomón;Luis Salvador-Carulla
journal of anatomy 2016 Vol. 58 pp. 694-707
272
lazcano-ponce2016saludthe

Abstract

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.

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