Feasibility of an app-based mindfulness intervention among women with an FMR1 premutation experiencing maternal stress.

Background: Women who carry an FMR1 premutation (PM) allele and are mothers of children with fragile X syndrome (FXS) experience elevated maternal stress. In-person mindfulness sessions have been shown to be effective in alleviating maternal stress-related outcomes among mothers of children with intellectual and developmental disabilities. Our prior studies indicate women with a PM are at risk of social anxiety, a potential barrier to in-person mindfulness sessions.

Reproductive and gynecologic care of women with fragile X primary ovarian insufficiency (FXPOI).

Objective: Approximately 20% of women with a premutation in the FMR1 gene experience primary ovarian insufficiency (POI). We explored diagnostic patterns, frequency of appropriate hormone replacement, obstetric outcomes, fertility treatment, reproductive decisions, and counseling of women with fragile X-associated POI (FXPOI).

Methods: Semistructured interviews with 79 women with FXPOI were conducted by a single interviewer.

Fragile X-associated primary ovarian insufficiency: evidence for additional genetic contributions to severity.

The fragile X mental retardation gene (FMR1) contains a CGG repeat sequence in its 5' untranslated region that can become unstable and expand in length from generation to generation. Alleles with expanded repeats in the range of approximately 55-199, termed premutation alleles, are associated with an increased risk for fragile-X-associated primary ovarian insufficiency (FXPOI). However, not all women who carry the premutation develop FXPOI.