Inequities in diagnosis of Fragile X syndrome in Colombia.
FMR1 full mutation
FMR1 premutation
age at the time of diagnosis
financial coverage of molecular tests
frequencies of FM and PM alleles
type of health insurance
Journal
Journal of applied research in intellectual disabilities : JARID
ISSN: 1468-3148
Titre abrégé: J Appl Res Intellect Disabil
Pays: England
ID NLM: 9613616
Informations de publication
Date de publication:
May 2021
May 2021
Historique:
revised:
12
11
2020
received:
25
04
2020
accepted:
12
01
2021
pubmed:
5
2
2021
medline:
19
8
2021
entrez:
4
2
2021
Statut:
ppublish
Résumé
Fragile X syndrome (FXS) is the most common cause of inherited intellectual disability and autism spectrum disorder (ASD). In Colombia, there are no screening or testing protocols established for the diagnosis of FXS. In this study, we aimed to describe the diagnostic trends of FXS in Colombia. Data were included on 1322 individuals obtained based on data from the only 2 databases available. Sociodemographic information and data related to the diagnostic process were obtained and included in this study. The average age at the time of diagnosis for individuals with the full mutation (FM) was of 26.9 ± 2.57 years and was strongly dependent on sex and socioeconomic status. Most individuals with a molecular diagnosis were from the main cities. The overall age of diagnosis of FXS is later in life than reports from other countries. Restricted access to molecular testing through the national health system might explain this discrepancy in Colombia.
Sections du résumé
BACKGROUND
BACKGROUND
Fragile X syndrome (FXS) is the most common cause of inherited intellectual disability and autism spectrum disorder (ASD). In Colombia, there are no screening or testing protocols established for the diagnosis of FXS. In this study, we aimed to describe the diagnostic trends of FXS in Colombia.
METHODS
METHODS
Data were included on 1322 individuals obtained based on data from the only 2 databases available. Sociodemographic information and data related to the diagnostic process were obtained and included in this study.
RESULTS
RESULTS
The average age at the time of diagnosis for individuals with the full mutation (FM) was of 26.9 ± 2.57 years and was strongly dependent on sex and socioeconomic status. Most individuals with a molecular diagnosis were from the main cities.
CONCLUSION
CONCLUSIONS
The overall age of diagnosis of FXS is later in life than reports from other countries. Restricted access to molecular testing through the national health system might explain this discrepancy in Colombia.
Substances chimiques
Fragile X Mental Retardation Protein
139135-51-6
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
830-839Subventions
Organisme : NICHD NIH HHS
ID : R01 HD036071
Pays : United States
Organisme : NICHD NIH HHS
ID : R01 HD036071
Pays : United States
Informations de copyright
© 2021 John Wiley & Sons Ltd.
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