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

Wilmar Saldarriaga, María J. Salcedo-Arellano, Tatiana Rodriguez-Guerrero, Marcela Ríos, Andrés Fandiño-Losada, Julian Ramirez-Cheyne, Pamela J Lein, Flora Tassone, Randi J Hagerman

Research output: Contribution to journalArticle

1 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)1-5
Number of pages5
JournalInternational Journal of Developmental Neuroscience
Volume72
DOIs
StatePublished - Feb 1 2019

Keywords

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

ASJC Scopus subject areas

  • Developmental Neuroscience
  • Developmental Biology

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