Leann Smith, PhD

Slide of the Week: Leann Smith, PhD

Title: Age at menopause by CGG repeat length

Legend: There was a significant curvilinear association between CGG repeat length and age at menopause (b = .003, p < .01). Neither maternal education nor smoking history was significantly associated with age at menopause. The effect remained significant even after the case with 180 CGG repeats was removed from the analysis (to insure that it was not just this one case that was driving the curvilinear association) and when age at the time of interview was controlled (to control for possible recall bias).

Citation: Mailick, M.R., Hong, J., Greenberg, J., Smith, L., & Sherman, S. (2014). Curvilinear association of CGG repeats and age at menopause in women with FMR1 premutation expansions. Am J Med Genet B Neuropsychiatr Genet. 165(8):705-11. doi:10.1002/ajmg.b.32277

Abstract: In a sample of post-menopausal premutation carrier mothers of children with the full mutation of fragile X syndrome (n = 88), this study examined the co-occurrence of the reproductive and psychiatric phenotypes associated with FMR1 premutations. Mean age at menopause was 43.1 years, and 35.2% of premutation carriers reported cessation of menses prior to age 40 (premature ovarian failure), but only 18% of carriers had been medically diagnosed by a physician as having Fragile X-associated Primary Ovarian Insufficiency. There was a significant curvilinear association between CGG repeat length and age at menopause, with women who had mid-range repeats having the earliest menopause, similar to the pattern that has been found for the psychiatric phenotype of the FMR1 premutation.

About the lab: The Lifespan Family Research program is dedicated to understanding the impact of having a child with a developmental disability on the family as well as the role of the family in supporting healthy development for individuals with disabilities such as autism spectrum disorders (ASDs) and fragile X syndrome (FXS). We know that parenting a child with a developmental disability can present many unique challenges for families. In one of our past studies, we have found that mothers of adolescents and adults with ASD were three times more likely to experience a stressful event on a given day than mothers of similarly-aged children without disabilities. Given the high level of stress experienced by many parents, I am interested in the interplay of stress, coping, and social support for parents of children with developmental disabilities and the subsequent impact that stress can have on parental health and well-being.

Slide of the Week Archives