The intellectual developmental disorders Mexico study: situational diagnosis, burden, genomics and intervention proposal
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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Instituto Nacional de Salud Pública
2016
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oai:scielo:S0036-363420160006006942017-02-08The intellectual developmental disorders Mexico study: situational diagnosis, burden, genomics and intervention proposalLazcano-Ponce,EduardoKatz,GregorioRodríguez-Valentín,RocíoCastro,Filipa deAllen-Leigh,BetaniaMárquez-Caraveo,María ElenaRamírez-García,Miguel ÁngelArroyo-García,EduardoMedina-Mora,María ElenaÁngeles,GustavoUrquieta-Salomón,José EdmundoSalvador-Carulla,Luis intellectual developmental disorders ADHD autistic disorder burden Mexico 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.info:eu-repo/semantics/openAccessInstituto Nacional de Salud PúblicaSalud Pública de México v.58 n.6 20162016-12-01info:eu-repo/semantics/articletext/htmlhttp://www.scielo.org.mx/scielo.php?script=sci_arttext&pid=S0036-36342016000600694en10.21149/spm.v58i6.8267 |
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Lazcano-Ponce,Eduardo Katz,Gregorio Rodríguez-Valentín,Rocío Castro,Filipa de Allen-Leigh,Betania Márquez-Caraveo,María Elena Ramírez-García,Miguel Ángel Arroyo-García,Eduardo Medina-Mora,María Elena Ángeles,Gustavo Urquieta-Salomón,José Edmundo Salvador-Carulla,Luis |
spellingShingle |
Lazcano-Ponce,Eduardo Katz,Gregorio Rodríguez-Valentín,Rocío Castro,Filipa de Allen-Leigh,Betania Márquez-Caraveo,María Elena Ramírez-García,Miguel Ángel Arroyo-García,Eduardo Medina-Mora,María Elena Ángeles,Gustavo Urquieta-Salomón,José Edmundo Salvador-Carulla,Luis The intellectual developmental disorders Mexico study: situational diagnosis, burden, genomics and intervention proposal |
author_facet |
Lazcano-Ponce,Eduardo Katz,Gregorio Rodríguez-Valentín,Rocío Castro,Filipa de Allen-Leigh,Betania Márquez-Caraveo,María Elena Ramírez-García,Miguel Ángel Arroyo-García,Eduardo Medina-Mora,María Elena Ángeles,Gustavo Urquieta-Salomón,José Edmundo Salvador-Carulla,Luis |
author_sort |
Lazcano-Ponce,Eduardo |
title |
The intellectual developmental disorders Mexico study: situational diagnosis, burden, genomics and intervention proposal |
title_short |
The intellectual developmental disorders Mexico study: situational diagnosis, burden, genomics and intervention proposal |
title_full |
The intellectual developmental disorders Mexico study: situational diagnosis, burden, genomics and intervention proposal |
title_fullStr |
The intellectual developmental disorders Mexico study: situational diagnosis, burden, genomics and intervention proposal |
title_full_unstemmed |
The intellectual developmental disorders Mexico study: situational diagnosis, burden, genomics and intervention proposal |
title_sort |
intellectual developmental disorders mexico study: situational diagnosis, burden, genomics and intervention proposal |
description |
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. |
publisher |
Instituto Nacional de Salud Pública |
publishDate |
2016 |
url |
http://www.scielo.org.mx/scielo.php?script=sci_arttext&pid=S0036-36342016000600694 |
work_keys_str_mv |
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