The intellectual developmental disorders Mexico study: situational diagnosis, burden, genomics and intervention proposal
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2016
- handle: 10670/1.99ztpj
- 0036-3634
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http://www.redalyc.org/revista.oa
Salud Pública de México
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Eduardo Lazcano-Ponce et al., « The intellectual developmental disorders Mexico study: situational diagnosis, burden, genomics and intervention proposal », Salud Pública de México, ID : 10670/1.99ztpj
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Résumé
"Objective . This study aims to generate evidence on intel- lectual 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 character - ization 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."