Inequities in Diagnosis of Fragile X Syndrome in Colombia

Autor/inn/en	Saldarriaga-Gil, Wilmar; Cabal-Herrera, Ana Maria; Fandiño-Losada, Andrés; Vásquez, Andrés; Hagerman, Randi; Tassone, Flora
Titel	Inequities in Diagnosis of Fragile X Syndrome in Colombia
Quelle	In: Journal of Applied Research in Intellectual Disabilities, 34 (2021) 3, S.830-839 (10 Seiten)Infoseite zur Zeitschrift PDF als Volltext Verfügbarkeit
Zusatzinformation	ORCID (Saldarriaga-Gil, Wilmar) ORCID (Cabal-Herrera, Ana Maria) ORCID (Fandiño-Losada, Andrés)
Sprache	englisch
Dokumenttyp	gedruckt; online; Zeitschriftenaufsatz
ISSN	1360-2322
DOI	10.1111/jar.12863
Schlagwörter	Clinical Diagnosis; Diagnostic Tests; Genetic Disorders; Autism; Pervasive Developmental Disorders; Intellectual Disability; Young Adults; Socioeconomic Status; Gender Differences; Urban Areas; Place of Residence; Barriers; Foreign Countries; Colombia + Suchen Sie Ihr Suchwort? Diagnostic test; Diagnostischer Test; Autismus; Intellect; Disability; Disabilities; Verstand; Behinderung; Young adult; Junger Erwachsener; Socio-economic status; Sozioökonomischer Status; Geschlechterkonflikt; Urban area; Stadtregion; Wohnort; Ausland; Kolumbien
Abstract	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: 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: 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: 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. (As Provided).
Anmerkungen	Wiley. Available from: John Wiley & Sons, Inc. 111 River Street, Hoboken, NJ 07030. Tel: 800-835-6770; e-mail: cs-journals@wiley.com; Web site: https://www.wiley.com/en-us
Erfasst von	ERIC (Education Resources Information Center), Washington, DC
Update	2024/1/01