Influence of Genetic Risk Information on Parental Role Identity in Adolescent Girls and Young Women from Families with Fragile X Syndrome

Abstract

Using a multi-group cross-sectional design, we explored self-concept related to parental role salience and enactment in 53 young women (14 to 24 years) with knowledge they were either carriers, non-carriers, or could be a carrier of fragile X syndrome (FXS). Parental role salience included the participants’ desire “to be a mother” and the importance they placed on this role. Enactment focused on the participants’ views regarding ways to become a mother (reproductive options), parenting a child affected by FXS, and the development of partner relationships (marriage). Participants completed the FXS Adolescent Interview and the FX-Visual Analog Scale. Participants’ knowledge of their genetic risk status appears to have influenced both salience and enactment of the parental role, and the effect varied based on carrier status. For many, knowledge of genetic risk appears to have led to reappraisal, redefinition, and re-engagement with the goal of becoming a parent. This process was prominent in those who were carriers and less so in those who were at-risk, and it did not typically occur in those who were non-carriers. Findings offer valuable insight into the impact of genetic risk information on developing perceptions of the parental role and offer new directions for genetic counseling with adolescents and young women with a family history of FXS.

Experiences With Genetic Counseling, Testing, and Diagnosis Among Adolescents With a Genetic Condition

“…A total of 45 studies met the inclusion criteria (Figure 1). A range of study designs were used, most of which were quantitative in nature (21 of 45 [47%]).…”

“…Qualitative design was used in 12 additional studies (27%), and all 12 involved one-on-one interactions with participants; 8 of them also included semistructured interviews . The remaining 12 studies (27%) used knowledge synthesis (n = 4), case study (n = 4), or mixed methods (n = 4) design. Sample sizes (Table) ranged from 1 to 930, with a median of 23 and a mode of 9 participants.…”

“…Sample sizes (Table) ranged from 1 to 930, with a median of 23 and a mode of 9 participants. Many of the included studies had patient populations that were composed of predominantly White adolescents, with particular exception of studies with ethnicity-based carrier screening. Information on race and ethnicity in each study was either self-reported through survey instruments or interviews or had no stated source.…”

Towards An Understanding of Neuropsychiatric Manifestations In Fragile X Premutation Carriers

“…For example, before age 40, about 20% of female carriers develop fragile X premature ovarian insufficiency (FXPOI), which is characterized by decreased ovarian function and can lead to infertility and early menopause [52]. The associated estrogen deficits and potential feelings of reproductive inadequacy put them at increased risk for mood disorders [53,54]. Likewise, carriers with and without FXTAS have substantial rates of thyroid dysfunction, a known risk factor for mood and anxiety disorders [51].…”

Experiences of Women Who Have Had Carrier Testing for Duchenne Muscular Dystrophy and Becker Muscular Dystrophy During Adolescence

“…Female fragile X carriers in one study may have actually demonstrated better coping mechanisms than untested girls who were aware that they were at risk (Wade et al 2010 ). Both carrier and non-carrier results can enable an adolescent to obtain a sense of control, potentially contributing to their personal growth and maturity (Järvinen et al 2000 ; McConkie-Rosell et al 2012 ). Furthermore, an unfavorable test result can reduce uncertainty, enabling an adolescent girl to adjust to the knowledge of her carrier status (Elger 2010 ; Fanos 1997 ).…”