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Int J Dev Neurosci. 2019 Feb;72:1-5. doi: 10.1016/j.ijdevneu.2018.10.002. Epub 2018 Oct 29.

Increased severity of fragile X spectrum disorders in the agricultural community of Ricaurte, Colombia.

Author information

1
School of Medicine, Universidad del Valle, Cali, Colombia; Research Group in Congenital & Perinatal Malformations, Dysmorphology and Clinical Genetics (MACOS), Universidad del Valle, Cali, Colombia; Department of Morphology, Universidad del Valle, Cali, Colombia.
2
School of Medicine, Universidad del Valle, Cali, Colombia; Research Group in Congenital & Perinatal Malformations, Dysmorphology and Clinical Genetics (MACOS), Universidad del Valle, Cali, Colombia; Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis, Sacramento, CA, USA. Electronic address: mjsalcedo@ucdavis.edu.
3
School of Medicine, Universidad del Valle, Cali, Colombia.
4
School of Medicine, Universidad del Valle, Cali, Colombia; CISALVA Institute, School of Public Health, Faculty of Health, Universidad del Valle, Cali, Colombia.
5
Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis, Sacramento, CA, USA; Department of Molecular Biosciences, University of California Davis School of Veterinary Medicine, Davis, CA, USA.
6
Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis, Sacramento, CA, USA; Department of Biochemistry and Molecular Medicine, University of California Davis School of Medicine, Sacramento, CA, USA.
7
Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis, Sacramento, CA, USA; Department of Pediatrics, University of California Davis School of Medicine, Sacramento, CA, USA. Electronic address: rjhagerman@ucdmc.edu.

Abstract

Premutation carriers of the FMR1 gene (CGG repeats between 55 and 200) usually have normal intellectual abilities but approximately 20% are diagnosed with developmental problems or autism spectrum disorder. Additionally, close to 50% have psychiatric problems such as anxiety, ADHD and/or depression. The spectrum of fragile X disorders also includes Fragile-X-associated primary ovarian insufficiency (FXPOI) in female carriers and Fragile-X-associated tremor/ataxia syndrome (FXTAS) in older male and female carriers. We evaluated 25 premutation carriers in the rural community of Ricaurte Colombia and documented all behavioral problems, social deficits and clinical signs of FXPOI and FXTAS as well as reviewed the medical and obstetric history. We found an increased frequency and severity of symptoms of fragile X spectrum disorders, which might be related to the vulnerability of FMR1 premutation carriers to higher exposure to neurotoxic pesticides in this rural community.

KEYWORDS:

Colombia; FXPOI; FXTAS; Fragile X spectrum disorders; Fragile X syndrome

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