Abstract
Recently, research has indicated an increased risk for greater medical and emotional comorbidity and physical health symptoms among women with an FMR1 expansion. However, these studies have generally been limited in their ability to model multiple risk factors associated with these symptoms by small numbers (n = 112–146) of participants. This study used survey methodology to examine the health experiences of 458 adult women with the premutation with and without a history of a fragile X primary ovarian insufficiency (FXPOI) diagnosis. Results suggest similar findings to those reported in the literature with regard to the frequency of medical, emotional, and reproductive experiences of women with the premutation. In addition to expected reproductive differences, women with a diagnosis of FXPOI were also more likely to experience dizziness, nausea, and muscle weakness than women without a diagnosis of FXPOI. Women with and without FXPOI were more likely to have used reproductive assistance and were more likely to have experienced preeclampsia during at least one pregnancy than is reported in the general population. Having comorbid depression and anxiety was predictive of increased medical conditions and increased daily physical health symptoms.
Highlights
Expansion of repetitions of the trinucleotide sequence of cytosine and guanine (CGG) on the FMR1 gene is the cause of several welldescribed disorders including fragile X syndrome (FXS), fragile X tremor ataxia syndrome (FXTAS), and fragile X primary ovarian insufficiency (FXPOI)
COMORBID PSYCHIATRIC/EDUCATIONAL DIAGNOSES Depression and anxiety were both reported at high rates with around 40% of women with and without FXPOI reporting a history of these diagnoses
There were no differences between those with and without FXPOI on occurrence (X2 = 0.47; df = 1; p = 0.49) or duration (X2 = 0.08; df = 1; p = 0.77) of PDD. Results from this large survey study expand upon previous findings suggesting increased health risks for women with an FMR1 premutation
Summary
Expansion of repetitions of the trinucleotide sequence of cytosine and guanine (CGG) on the FMR1 gene is the cause of several welldescribed disorders including fragile X syndrome (FXS), fragile X tremor ataxia syndrome (FXTAS), and fragile X primary ovarian insufficiency (FXPOI). FXTAS and FXPOI are associated with premutation status In addition to these disorders, several additional medical, emotional, and cognitive challenges have been described as occurring at a greater frequency among individuals with a premutation than would be expected in the general population. These include reports of higher rates of depression, anxiety, attention challenges, hypertension, thyroid disease, fibromyalgia, and migraines (see Wheeler et al, 2014 for a review of these features). Mid-range CGG repeats have been associated with both increased risk for earlier menopause (Sullivan et al, 2005; Ennis et al, 2006; Allen et al, 2007; Tejada et al, 2008; Spath et al, 2011) and increased risk for depression, anxiety, and stress susceptibility (Johnston et al, 2001; Roberts et al, 2009; Hunter et al, 2012; Seltzer et al, 2012), further suggesting an association between these reproductive and emotional risks
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