Parent perspectives following newborn screening resulting in diagnoses of fragile X syndrome or fragile X premutation.

BACKGROUND: Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability. Early Check, a voluntary newborn screening study, screened 18,833 newborns for FXS over ∼3 years. Exploring parental attitudes and perspectives can provide insight to the potential future acceptability of public health screening. METHODS AND PROCEDURES: Mothers of infants who received a screen positive result for FXS (n = 6) or fragile X premutation (FXPM; n = 18) were interviewed about their perceptions and experiences. OUTCOMES AND RESULTS: Mothers of children with FXS described utility in receiving information about their child, particularly to monitor for potential developmental issues and intervene early; overall mothers did not regret participating. Mothers reported various reactions to receiving the FXS or FXPM results including (1) stress and worry; (2) guilt; (3) sadness and disappointment; (4) neutrality, relief, and acceptance; and (5) confusion and uncertainty. CONCLUSIONS AND IMPLICATIONS: Despite initial reactions such as sadness, stress, and worry, mothers found value in learning of their child's presymptomatic diagnosis of FXS, particularly the anticipated long-term benefits of early diagnosis to their child's health and wellbeing. Our results indicate that professionals returning positive newborn screening results should anticipate and prepare for reactions such as parental shock, guilt, sadness, and uncertainty. Genetic counseling and psychosocial support are critical to supporting families.

Use of a web-based portal to return normal individual research results in Early Check: Exploring user behaviors and attitudes.

Early Check is a voluntary, large-scale expanded newborn screening study in North Carolina that uses a self-directed web-based portal for return of normal individual research results (IRR). Little is known about participant perspectives in using web-based portals to receive IRR. This study explored user attitudes and behaviors within the Early Check portal using three methods: (1) a feedback survey available to the consenting parent of participating infants (typically mothers), (2) semi-structured interviews conducted with a subset of parents, and (3) Google Analytics. During an approximate 3-year period, 17 936 newborns received normal IRR and there were 27 812 visits to the portal. Most surveyed parents reported viewing their baby's results (86%, 1410/1639). Parents largely found the portal easy to use to get results, and helpful in understanding the results. However, 10% of parents said it was difficult to find enough information to understand their baby's results. In Early Check, providing normal IRR via the portal made a large-scale study practical, and was highly rated by most users. Return of normal IRR may be particularly amenable to web-based portals, as the consequences to participants from not viewing results are modest, and the interpretation of a normal result is relatively straightforward.

Knowledge and Attitudes Regarding Human Papillomavirus Among Active Duty Service Members at a Large Military Base.

OBJECTIVE: To assess gaps in human papillomavirus (HPV) knowledge and current attitudes toward HPV vaccination among active duty soldiers at Fort Bragg, NC, and to evaluate the impact of the instruction intervention on knowledge and attitudes regarding HPV vaccination. METHODS: A six-question assessment was administered to soldiers presenting for appointments through the Epidemiology and Disease Control (EDC) Clinic at Fort Bragg in January 2020. Questions included five multiple choice knowledge assessments and a Likert scale attitude question regarding HPV vaccination. The assessment was administered before and after a one-on-one educational intervention conducted by the EDC Clinic nursing staff. Pre- and post-assessments were matched using unique encounter numbers. RESULTS: A total of 139 matched pre- and post-education assessments were completed. Statistically significant changes in HPV knowledge were observed in test score and percent correct (P < .001). Additionally, for individuals reporting no prior HPV vaccination, attitudes toward receiving it increased from 4 (interquartile range 3-5) to 5 (4-5) following instructions (P < .001). This indicates a shift from moderately interested to very interested. CONCLUSIONS: Results among soldiers demonstrated a lack of knowledge regarding HPV infection, its long-term effects, and preventive measures available among this population of active duty members. Assessment results also illustrated education about HPV infection and vaccination positively impacts soldiers' knowledge and attitudes toward HPV vaccination.

"He Will Not Leave Us Alone and I Need the Courts to Help": Defendants' Use of Nonphysical Violence in Domestic Violence Protective Order Cases.

District court judges who make final determinations in domestic violence protective order (DVPO) cases in North Carolina indicate often using heuristics, such as the presence of visible injury, to guide their assessment of violence severity. This approach is concerning as it minimizes nonphysical intimate partner violence. We conducted a thematic analysis of DVPO plaintiff complaints to identify the types of nonphysical vioence described and its effects on plaintiff health outcomes. Most case files included descriptions of nonphysical violence and plaintiffs described fear as a significant mental health outcome. Findings highlight the potentially deleterious impact of nonphysical violence on the well-being of DVPO plaintiffs.