Abstract
PURPOSE: Clear understanding of mental health phenotypes and associated socioeconomic, physical health and well-being impacts in adult women with an FMR1 premutation (PM) is needed for counseling and primary healthcare. METHODS: A questionnaire captured mental health conditions in women with a PM, using lifetime diagnosis and nested psychometric scales (Liebowitz Social Anxiety Scale; Depression and Anxiety Stress Scale). Socioeconomic, physical health and well-being data were entered into 2 multivariable logistic regression models (1 with depression status as the outcome variable and 1 with social anxiety as the outcome). RESULTS: 137 participants were included. Depression was found in ∼30% and social anxiety in ∼38%. With depression status the outcome variable, strongest associations were for low education, diagnosis of migraine, diagnosis of irritable bowel syndrome, and self-reported hearing loss symptoms. With social anxiety status as the outcome, strongest associations were with education, migraine, irritable bowel syndrome, relationship status, and subjective memory complaints. CONCLUSION: Mental health impacts were found in more than 1 in 3 women. Poor mental health was significantly associated with socioeconomic and physical health factors. Findings may inform health care professionals about personalized treatment options for women with a PM.