TY - JOUR
T1 - Increased severity of fragile X spectrum disorders in the agricultural community of Ricaurte, Colombia
AU - Saldarriaga, Wilmar
AU - Salcedo-Arellano, María J.
AU - Rodriguez-Guerrero, Tatiana
AU - Ríos, Marcela
AU - Fandiño-Losada, Andrés
AU - Ramirez-Cheyne, Julian
AU - Lein, Pamela J
AU - Tassone, Flora
AU - Hagerman, Randi J
PY - 2019/2/1
Y1 - 2019/2/1
N2 - 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.
AB - 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.
KW - Colombia
KW - Fragile X spectrum disorders
KW - Fragile X syndrome
KW - FXPOI
KW - FXTAS
UR - http://www.scopus.com/inward/record.url?scp=85056774162&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85056774162&partnerID=8YFLogxK
U2 - 10.1016/j.ijdevneu.2018.10.002
DO - 10.1016/j.ijdevneu.2018.10.002
M3 - Article
C2 - 30385191
AN - SCOPUS:85056774162
VL - 72
SP - 1
EP - 5
JO - International Journal of Developmental Neuroscience
JF - International Journal of Developmental Neuroscience
SN - 0736-5748
ER -