The intellectual developmental disorders Mexico study: situational diagnosis, burden, genomics and intervention proposal.
Salud Publica Mex
; 58(6): 694-707, 2016.
Article
en En
| MEDLINE
| ID: mdl-28225946
ABSTRACT
OBJECTIVE:
This study aims to generate evidence on intellectual development disorders (IDD) in Mexico. MATERIALS ANDMETHODS:
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.
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Discapacidad Intelectual
Tipo de estudio:
Diagnostic_studies
/
Guideline
/
Health_economic_evaluation
/
Prognostic_studies
/
Qualitative_research
Límite:
Humans
País/Región como asunto:
Mexico
Idioma:
En
Revista:
Salud Publica Mex
Año:
2016
Tipo del documento:
Article