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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Main Authors: 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
Format: Digital revista
Language:English
Published: Instituto Nacional de Salud Pública 2016
Online Access:http://www.scielo.org.mx/scielo.php?script=sci_arttext&pid=S0036-36342016000600694
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spelling 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
institution SCIELO
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country México
countrycode MX
component Revista
access En linea
databasecode rev-scielo-mx
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region America del Norte
libraryname SciELO
language English
format Digital
author 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
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