Literature DB >> 28225946

The intellectual developmental disorders Mexico study: situational diagnosis, burden, genomics and intervention proposal.

Eduardo Lazcano-Ponce1, Gregorio Katz1,2, Rocío Rodríguez-Valentín1, Filipa de Castro1, Betania Allen-Leigh1, María Elena Márquez-Caraveo3, Miguel Ángel Ramírez-García3, Eduardo Arroyo-García3, María Elena Medina-Mora4, Gustavo Ángeles5, José Edmundo Urquieta-Salomón6, Luis Salvador-Carulla7.   

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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Year:  2016        PMID: 28225946     DOI: 10.21149/spm.v58i6.8267

Source DB:  PubMed          Journal:  Salud Publica Mex        ISSN: 0036-3634


  1 in total

1.  Brief Report: Delayed Diagnosis of Treatable Inborn Errors of Metabolism in Children with Autism and Other Neurodevelopmental Disorders.

Authors:  María Elena Márquez-Caraveo; Isabel Ibarra-González; Rocío Rodríguez-Valentín; Miguel Ángel Ramírez-García; Verónica Pérez-Barrón; Eduardo Lazcano-Ponce; Marcela Vela-Amieva
Journal:  J Autism Dev Disord       Date:  2021-06
  1 in total

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