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Direct linkSaldarriaga-Gil, Wilmar; Cabal-Herrera, Ana Maria; Fandiño-Losada, Andrés; Vásquez, Andrés; Hagerman, Randi; Tassone, Flora – Journal of Applied Research in Intellectual Disabilities, 2021
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…
Descriptors: Clinical Diagnosis, Diagnostic Tests, Genetic Disorders, Autism
Domínguez-Berjón, M. Felícitas; Zoni, Ana Clara; Esteban-Vasallo, María D; Sendra-Gutiérrez, Juan Manuel; Astray-Mochales, Jenaro – Journal of Applied Research in Intellectual Disabilities, 2018
Background: The objective was to describe the main causes of hospitalization in people with Angelman syndrome (AS). Method: Population-based cross-sectional study in the Community of Madrid (CM), Spain. The information source for AS cases was the information system for rare diseases in the CM. Variables related to hospitalization, for the period…
Descriptors: Case Studies, Hospitals, Medical Evaluation, Age Differences
