Parent attitudes and perceptions after receiving Fragile X premutation results in the Early Check Newborn Screening Pilot Study (eP300)

Abstract

Introduction: Early Check is a research study offered to parents whose infants have newborn screening (NBS) in North Carolina and provides screening for conditions that are not part of state NBS. Early Check screening uses residual dried blood spot (DBS) specimens after state NBS. The study is led by RTI International in collaboration with the North Carolina State Laboratory of Public Health (NCSLPH), Duke University, University of North Carolina at Chapel Hill, and Wake Forest University. The Early Check screening panel was developed to change over time and currently includes Fragile X syndrome and Duchenne muscular dystrophy (DMD) and related muscular dystrophies. As a sub-study to Early Check, parents age 18 or older who enroll their newborns are then invited to receive results for Fragile X premutation (FXPM). Parents of babies confirmed with the premutation or intermediate allele though Early Check have free telegenetic counseling, parental testing, and access to web-based educational materials developed for parents of babies with FXPM and for adults newly identified with FXPM. As part of the sub-study, we obtained data from parents who received a FXPM result. Our objective is to describe participants’ attitudes about acceptability of the Early Check telegenetic counseling process, their knowledge recall, their reported sharing of the results, and their perceptions of uncertainty and coping self-efficacy. Methods: We conducted a survey of mothers whose child received a FXPM result through Early Check. Data were collected between 3 and 6 months after return of results. Knowledge recall was measured using 7 true/false questions. Coping self-efficacy was assessed using the CSE scale, with 13 items rated on a 0-10 scale. Uncertainty was measured using the Parental Uncertainty of Children’s Health scale (PUCHs) with rating of uncertainty-associated items by agreement and importance (each using a 5-point scale). Given the small sample size, we report descriptive statistics. Results: As of October 2021, positive FXPM research results have been returned to mothers of 47 Early Check participants. Thirty-five results have been confirmed through Early Check, and 30 mothers have participated in telegenetic counseling for confirmatory results disclosure. Sixteen mothers responded to the survey. Average maternal age at the time of consent was 33.25 years, with a range of 27-39 years. All mothers were English-speaking White/non-Hispanic, and a majority (62.5%) reside in urban counties. Six of 16 mothers (37.5%) reported a personal or family history of FXPM. Overall, parents found the telegenetic counseling process acceptable, with 2 of 14 respondents (14.3%) indicating they would have preferred to meet with the genetic counselor in person. All respondents reported that they would recommend telegenetic counseling to other parents as a way to learn results from Early Check. For knowledge recall, 10 out of 15 respondents answered all 7 true/false items correctly. Three of 15 parents answered incorrectly that FXPM presents no risks in adulthood, and 2 of 15 incorrectly answered “there is a good chance that my baby’s FXPM could have been passed down by me or the baby’s father.” Regarding sharing the child's results, 10 of 16 responding (62.5%) reported sharing the baby’s FXPM results with relatives, and 8 of 15 responding (53.3%) reported sharing results with their child’s healthcare provider. Sixteen respondents completed the coping self-efficacy measure. Item mean scores, reported on a scale of 0-10 with higher scores indicating better ratings of self-efficacy, ranged from lower scores on these items: “Make unpleasant thoughts go away” (mean 6.25, SD 2.67), “Stop yourself from being upset by unpleasant thoughts” (mean 6.31, SD 2.6) and “Take your mind off unpleasant thoughts” (mean 6.44, SD 2.53) to higher scores on these items: “Make a plan of action and follow it when confronted with a problem” (mean 8.69, SD 1.08), “Sort out what can be changed, and what cannot be changed” (mean 8.38, SD 1.2), and “Leave options open when things get stressful” (mean 8.25, SD 1.48). Nine respondents completed the uncertainty measure. The areas of uncertainty identified with highest agreement were “…anticipating my child may do better than anyone has anticipated” (6 of 9 rating agree or strongly agree) and “…without support from parents going through similar experiences” (2 of 9 rating agree or strongly agree). Eight of 9 respondents disagreed or strongly disagreed that they were “…unsure where to go for help for my child's FXPM”, “…unprepared to inform my children about the chances for FXPM and Fragile X to occur in their children”, and “…ill-prepared to make decisions for others in my family”. The areas of uncertainty identified as most important (rated as somewhat important or important) were “Being prepared for making decisions related to my child's FXPM” (8 of 9) and “Knowing where to go for help about my child's FXPM” (7 of 9). Conclusion: Among mothers of children who chose to receive FXPM results from the Early Check study, we found that Early Check telegenetic counseling was well accepted and that key information was understood and retained by most (but not all mothers) who responded. Results indicate that refinements to Early Check counseling and educational materials may be warranted. While a majority shared their baby’s FXPM results with family members and with the baby’s healthcare provider, many did not. The motivation for not sharing results was not ascertained and should be the focus of future research. In general, our respondents rated their coping self-efficacy relatively positively. Lower scores were associated with the ability to manage unpleasant thoughts about FXPM. These scores may indicate that respondents were in a time of transition to coping with a new diagnosis. These may also reflect subtle neuropsychological features that can manifest in female carriers. Reassuringly, most respondents indicated that they knew where to go for help about FXPM, were prepared to make decisions, and felt prepared to inform their children about recurrence in the family. Though this study is limited by the small sample and the likelihood of bias in enrollment to newborns with a family history, this study provides evidence about the attitudes and psychosocial outcomes of mothers who choose to obtain data about their children’s FXPM status.