Longitudinal Developmental Outcomes of Infants and Toddlers With Traumatic Brain Injury.

Importance: Among children, infants and toddlers have some of the highest rates of traumatic brain injury (TBI), but longitudinal information on their developmental outcomes to guide postinjury surveillance is sparse. Objective: To evaluate infants' and toddlers' development over 3 years following TBI compared with those with orthopedic injury (OI). Design, Setting, and Participants: A longitudinal observational cohort study was conducted at 2 level 1 pediatric trauma centers from January 20, 2013, to September 30, 2015; data analysis was performed from May 12 to October 20, 2021. Participants included children injured when younger than 31 months with TBI or OI who received emergency department care. Exposures: Mild, moderate, or severe TBI or OI. Main Outcomes and Measures: Parents completed baseline measures representing preinjury status and 3-, 12-, 24-, and 36-month postinjury status, using the Ages & Stages Questionnaire-3 (ASQ-3), with a mean reference value of 50 and higher scores indicating more advanced development. Linear mixed models characterized children's outcomes for each ASQ-3 domain after adjustment for baseline ASQ-3, injury severity and group, age, injury mechanism (abuse or not), sex, prematurity, family function, social capital, and time. Interactions with time were evaluated. Results: Consent for participation was provided for 195 children; 184 parents (94%) completed a baseline survey. The cohort included 168 children who completed at least 1 follow-up survey: 48 (29%) mild; 54 (32%) complicated mild/moderate; 21 (13%) severe TBI; and 45 (27%) orthopedic injury. The cohort included 95 boys (57%), 49% injured before age 1 year; and 13% injured by abuse. Mean (SD) age at the time of injury was 13.9 (9.4) months. At 36 months, children with mild or complicated mild/moderate TBI performed similarly to children with OI across ASQ-3 domains. Children with severe TBI performed poorly as shown by negative mean differences in communication (-8.8; 95% CI, -13.8 to -3.8); gross motor (-10.1; 95% CI, -15.1 to -5.1); problem solving (-6.6; 95% CI, -11.2 to -1.9), and personal social (-6.3; 95% CI, -10.4 to -2.1) domains with little recovery over time. Children with abusive injury experienced decrements in ability over time in fine motor and personal social skills. Social capital was protective in communication (mean, 1.5; 95% CI, 0.3-2.7) and problem solving (mean, 1.2; 95% CI, 0.1-2.3) domains. Conclusions and Relevance: In this cohort study of children with TBI, children with severe injury showed little recovery. These findings suggest that early childhood intervention is needed, while children with milder injury remained on their developmental track and should continue routine developmental surveillance.

Acceptance of genetic testing for hereditary breast ovarian cancer among study enrollees from an African American kindred.

Clinical availability of genetic testing for cancer predisposition genes is generating a major challenge for U.S. health care systems to provide relevant genetic services to underserved populations. Here we present rates of study enrollment and utilization of genetic testing in a research study on BRCA1 testing acceptance in one large kindred. We also present data on baseline access to genetic information as well as enabling and obstructing factors to study enrollment. The study population included female and male members of an African American kindred based in the rural southern United States with an identified BRCA1 mutation. A combination of quantitative and qualitative data were collected and analyzed. Of the 161 living, eligible, and locatable kindred members, 105 (65%) enrolled in the study. Family, personal, and educational motivations were the most commonly endorsed reasons for study participation. The most commonly cited reasons for refusal to participate in the study were: lack of interest, time constraints, and negative experiences with prior participation in genetic research. Eighty three percent of the participants underwent BRCA1 testing. In multiple logistic regression analysis, age 40-49 (odds ratio (OR) = 6.9; 95% confidence interval (CI) = 1.2-39.5), increased perceived risk of being a BRCA1 mutation carrier (OR = 4.1; 95% CI = 1.1-14.6), and high cancer genetics knowledge levels (OR = 1.5; 95% CI = 1.1-2.3) were associated with BRCA1 testing acceptance. The results of this study indicate that cognitive and demographic factors may influence genetic research participation and genetic testing decisions among African Americans who are at increased risk of carrying a deleterious BRCA1 mutation.