We are excited to share that Dr. Jessica Klusek, together with co-author Dr. Lauren Jenner, has published a new paper in the American Journal of Medical Genetics Part B: Neuropsychiatric Genetics titled: “Depression Symptom Trajectories in Mothers With the FMR1 Premutation Vary by CGG Repeat Length: A Longitudinal Study of 73 Women Spanning 20–75 Years of Age”.

Women who carry the FMR1 premutation are more likely to experience depression, often starting in young adulthood and worsening during midlife. This risk is further compounded by the demands of caring for a child with fragile X syndrome (FXS), many of whom require ongoing care into adulthood. However, little is known about how depression continues to affect these women into older adulthood.

In this study, we followed 73 mothers with the FMR1 premutation, aged 20–75, across multiple time points (294 assessments in total). We found that women with mid-range CGG expansions (91–110 repeats) had the highest depression symptoms (BDI-II score; see Figure below), peaking in midlife – particularly among those with a history of premature menopause, whose symptoms persisted into their 60s. Women with higher expansions (111–200) showed increased symptoms in early and late adulthood, while those with lower expansions (55–90) reported consistently low symptoms across the lifespan.

Parenting stress contributed to depression in younger mothers but had less impact in older mothers, even though stress levels remained high – pointing to the possible role of coping strategies like acceptance and optimism. These findings underscore how genetic factors, hormonal changes, and caregiving demands interact to shape depression risk across adulthood, highlighting the importance of tailored supports to promote healthy aging in women with the FMR1 premutation.

Click here to read the article in full!

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