Current approach to genetic testing and genetic evaluation referrals for adults with congenital heart disease.

Background: Congenital heart disease (CHD) is the most common congenital anomaly. Up to 33% have an identifiable genetic etiology. Improved medical and surgical management of CHD has translated into longer life expectancy and a rapidly growing population of adults living with CHD. The adult CHD (ACHD) population did not have access during childhood to the genetic technologies available today and therefore have not had a robust genetic evaluation that is currently recommended for infants with CHD. Given this potential benefit; the aims of this study were to determine how ACHD cardiologists offer genetics services to patients and identify the indications that influence decision-making for genetics care. Methods: We performed a descriptive cross-sectional study of ACHD cardiologists. A study-developed questionnaire was distributed via emailed REDCap link. The recruitment email was sent to 104 potential respondents. The survey was open from 06/2022 to 01/2023. Results: Thirty-five cardiologists participated in the study (response rate of 34%). Most cardiologists identified as white (77%) and male (66%). Cardiologists were more likely to refer patients to genetics (91%) than to order testing themselves (57%). Of the testing ordered, chromosomal testing (55%) was ordered more than gene sequencing (14%). Most cardiologists would refer a patient with a conotruncal lesion (interrupted aortic arch) over other indications for a genetics evaluation. There were more reported barriers to ordering genetic testing (66%) compared to referring to genetics for a genetics evaluation (23%). Cardiologists were more confident recognizing features suggestive of a genetic syndrome than ordering the correct test (p = 0.001). Regarding associations between clinical factors and current practices, more years in practice trended towards less referrals and testing. Evaluating a greater number of patients (p = 0.11) and greater confidence recognizing syndromic features (p = 0.12) and ordering the correct test (p = 0.09) were all associated with ordering more testing. Conclusion: Testing for microdeletion syndromes is being offered and completed in the ACHD population, however testing for single-gene disorders associated with CHD is being under-utilized. Developing guidelines for genetic testing in adults with CHD could increase access to genetic services, impact medical management, reduce uncertainty regarding prognosis, and inform recurrence risk estimates.

Material Hardship, Protective Factors, Children's Special Health Care Needs, and the Health of Mothers and Fathers.

BACKGROUND: Parents of children with special health care needs (CSHCN) are at risk of poorer health outcomes. Material hardships also pose significant health risks to parents. Little is known about how protective factors may mitigate these risks and if effects are similar between mothers and fathers. METHODS: This was a cross-sectional survey study conducted using the US 2018/2019 National Survey of Children's Health, including parents of children 0 to 17 with income <200% of the federal poverty level. Separately, for parents of children with and without special health care needs (N-CSHCN), weighted logistic regression measured associations between material hardship, protective factors (family resilience, neighborhood cohesion, and receipt of family-centered care), and 2 outcomes: mental and physical health of mothers and fathers. Interactions were assessed between special health care needs status, material hardship, and protective factors. RESULTS: Sample consisted of parents of 16,777 children; 4440 were parents of CSHCN. Most outcomes showed similar associations for both mothers and fathers of CSHCN and N-CSHCN: material hardship was associated with poorer health outcomes, and family resilience and neighborhood cohesion associated with better parental health outcomes. Family-centered care was associated with better health of mothers but not fathers. Interaction testing showed that the protective effects of family resilience were lower among fathers of CSHCN experiencing material hardship. CONCLUSIONS: Family resilience and neighborhood cohesion are associated with better health outcomes for all parents, though these effects may vary by experience of special health care needs, parent gender, and material hardship.

Omega-3 Polyunsaturated Fatty Acids, Gut Microbiota, Microbial Metabolites, and Risk of Colorectal Adenomas.

Omega-3 polyunsaturated fatty acids (ω-3 PUFAs) are thought to protect against colorectal adenoma (CRA) development. We aimed to further understand the underlying mechanisms by examining the relationships between ω-3 PUFAs and the gut microbiota on CRAs. We assessed the mucosal microbiota via bacterial 16S rRNA sequencing among 217 CRA cases and 218 controls who completed PUFA intake questionnaires. The overall microbial composition was assessed by α-diversity measurements (diversity, richness, and evenness). Global metabolomics was conducted using a random subset of case−control pairs (n = 50). We compared microbiota and metabolite signatures between cases and controls according to fold change (FC). Odds ratios (OR) and confidence intervals (CI) were estimated from logistic regression for associations of ω-3 PUFAs and the microbiota with CRAs. We observed an inverse association between overall ω-3 PUFA intake and CRAs, especially for short-chain ω -3 PUFAs (OR = 0.45, 95% CI: 0.21, 0.97). Such inverse associations were modified by bacterial evenness (p-interaction = 0.03). Participants with higher levels (FC > 2) of bile acid-relevant metabolites were more likely to have CRAs than the controls, and the correlation between bile acids and bacterial diversity differed by case−control status. Our findings suggest that ω-3 PUFAs are inversely associated with CRA development, and the association may be modified by gut microbiota profiles.

Maternal Stress and Infant Feeding in Hispanic Families Experiencing Poverty.

OBJECTIVES: Maternal stress has been associated with early child obesity through pathways related to decreased exclusive breastfeeding and increased nonresponsive maternal-infant feeding styles. We sought to gain an in-depth understanding of how maternal stress, sadness, and isolation are perceived to affect feeding, in order to inform modifiable targets of intervention. METHODS: We conducted semi-structured qualitative interviews with Hispanic mothers living in poverty with young infants between 3 and 7 months old (n = 32) from the intervention group of a randomized controlled trial of an early child obesity prevention intervention (Starting Early Program). Bilingual English-Spanish interviewers conducted the interviews, which were audio recorded, transcribed, and translated. Building on an existing theoretical framework developed by the National Scientific Council on the Developing Child, we used an iterative process of textual analysis to code the transcripts, until thematic saturation was reached. RESULTS: Three key themes were described: 1) maternal stress responses were varied and included positive (brief and mild), tolerable (sustained but limited long-term impacts), or toxic stress (sustained and severe); 2) buffers included support from family, infants, health care providers, social service programs, and community organizations; 3) perceived effects on infant feeding included decreased breastfeeding due to concerns about stress passing directly through breast milk and indirectly through physical closeness, and increased nonresponsive feeding styles. CONCLUSIONS: Maternal stress, particularly toxic stress, was perceived to negatively affect infant feeding. Mothers reported disrupting healthy feeding to avoid infant exposure to stress. Interventions to enhance buffering may help to mitigate toxic stress and promote healthy feeding interactions.

Fontan-Associated Dyslipidemia.

Background Hypocholesterolemia is a marker of liver disease, and patients with a Fontan circulation may have hypocholesterolemia secondary to Fontan-associated liver disease or inflammation. We investigated circulating lipids in adults with a Fontan circulation and assessed the associations with clinical characteristics and adverse events. Methods and Results We enrolled 164 outpatients with a Fontan circulation, aged ≥18 years, in the Boston Adult Congenital Heart Disease Biobank and compared them with 81 healthy controls. The outcome was a combined outcome of nonelective cardiovascular hospitalization or death. Participants with a Fontan (median age, 30.3 [interquartile range, 22.8-34.3 years], 42% women) had lower total cholesterol (149.0±30.1 mg/dL versus 190.8±41.4 mg/dL, P<0.0001), low-density lipoprotein cholesterol (82.5±25.4 mg/dL versus 102.0±34.7 mg/dL, P<0.0001), and high-density lipoprotein cholesterol (42.8±12.2 mg/dL versus 64.1±16.9 mg/dL, P<0.0001) than controls. In those with a Fontan, high-density lipoprotein cholesterol was inversely correlated with body mass index (r=-0.30, P<0.0001), high-sensitivity C-reactive protein (r=-0.27, P=0.0006), and alanine aminotransferase (r=-0.18, P=0.02) but not with other liver disease markers. Lower high-density lipoprotein cholesterol was independently associated with greater hazard for the combined outcome adjusting for age, sex, body mass index, and functional class (hazard ratio [HR] per decrease of 10 mg/dL, 1.37; 95% CI, 1.04-1.81 [P=0.03]). This relationship was attenuated when log high-sensitivity C-reactive protein was added to the model (HR, 1.26; 95% CI, 0.95-1.67 [P=0.10]). Total cholesterol, low-density lipoprotein cholesterol, and triglycerides were not associated with the combined outcome. Conclusions The Fontan circulation is associated with decreased cholesterol levels, and lower high-density lipoprotein cholesterol is associated with adverse outcomes. This association may be driven by inflammation. Further studies are needed to understand the relationship between the severity of Fontan-associated liver disease and lipid metabolism.

Associations Between Participation in After-School Activities, Attention-Deficit/Hyperactivity Disorder Severity, and School Functioning.

OBJECTIVE: To examine the association between after-school activity (ASA) participation, attention-deficit/hyperactivity disorder (ADHD) severity, and school functioning among children with ADHD. METHODS: A cross-sectional study was conducted using data from the 2016 National Survey of Children's Health on ADHD severity, ASAs and 2 domains of school functioning among children with ADHD: missed days from school and calls home from school. RESULTS: Of 4,049 children with ADHD (weighted N = 5,010,662), 71.8% participated in at least 1 ASA. In multivariable regression analyses, ASA participation was associated with lower odds of moderate-to-severe ADHD [adjusted odds ratio (aOR): 0.62, 95% confidence interval (CI), 0.46-0.85] and lower odds of missed school days (aOR 0.55, 95% CI, 0.41-0.74). We did not find significant associations with calls home from school (aOR 0.79, 95% CI, 0.59-1.07). CONCLUSION: After-school activity participation is associated with decreased ADHD severity and reduced school absenteeism. Efforts to optimize ADHD outcomes should consider engaging children and adolescents in ASAs.

Associations between Adverse Childhood Experiences and Need and Unmet Need for Care Coordination.

Introduction: Children exposed to adverse childhood experiences (ACEs) may access multiple systems of care to address medical and social complexities. Care coordination (CC) optimizes health outcomes for children with special health care needs who often use multiple systems of care. Little is known about whether ACEs are associated with need and unmet need for CC. Methods: Use of the 2016-2017 National Survey of Children's Health to identify children who saw ≥1 health care provider in the last 12 months. The study team used weighted logistic regression analyses to examine associations between 9 ACE types, ACE score and need and unmet need for CC. Results: In the sample (N=39,219, representing 38,316,004 US children), material hardship (aOR, 1.50; 95% CI, 1.29-1.75), parental mental illness (aOR, 1.31; 95% CI, 1.07-1.60), and neighborhood violence (aOR, 1.33; 95% CI, 1.01-1.74) were significantly associated with an increased need for CC. Material hardship was also associated with unmet need for CC (aOR, 2.37; 95% CI, 1.80 - 3.11). Children with ACE scores of 1, 2, 3, and ≥4 had higher odds of need and unmet need for CC than children with 0 ACEs. Discussion: Specific ACE types and higher ACE scores were associated with need and unmet need for CC. Evaluating the unique needs of children who endured ACEs should be considered in the design and implementation of CC processes in the pediatric healthcare system.

Clinical characteristics and rate of dilatation in Turner syndrome patients treated for aortic dilatation.

Turner syndrome is associated with an increased risk of aortic aneurysms and dissection. Recent 2017 clinical care guidelines recommend medical therapy to treat aortic dilatation, although whether this slows dilatation is unknown. We aimed to describe a pre-guideline cohort of Turner syndrome patients with aortic dilatation, the rate of dilatation following diagnosis, and post therapy dilatation rates. We conducted a retrospective review of Turner syndrome patients with a dilated aortic root or ascending aorta by current definitions. In total, 40 patients were included with 22 treated patients. Most patients had 45,X karyotype, were white, non-Hispanic, and received both growth hormone and estrogen. Except for hypertension, there were no differences in risk factors among treated and untreated groups. Bicuspid aortic valve was very common. Treatment group patients had significantly more dilated ascending aortas by absolute measurements and aortic size index. In an adjusted model, there was minimal change in aortic measures over time and this was not associated with medication use. In conclusion, in this cohort, Turner syndrome patients with aortic dilatation were more likely to be treated if they had hypertension and if they met multiple dilatation criteria. Further study is needed to establish medical therapy efficacy on dilatation progression.

Adverse Childhood Experiences Are Associated with Childhood-Onset Arthritis in a National Sample of US Youth: An Analysis of the 2016 National Survey of Children's Health.

OBJECTIVES: To determine whether there is an association between adverse childhood experiences (ACEs) and childhood-onset arthritis, comparing youth with arthritis to both healthy youth and youth with other acquired chronic physical diseases (OCPD); and to examine whether ACEs are associated with disease-related characteristics among children with arthritis. STUDY DESIGN: In a cross-sectional analysis of data from the 2016 National Survey of Children's Health we examined whether ACEs were associated with having arthritis vs either being healthy or having a nonrheumatologic OCPD. ACE scores were categorized as 0, 1, 2-3, ≥4 ACEs. Multinomial logistic regression models examined associations between ACEs and health status while adjusting for age, sex, race/ethnicity, and poverty status. Among children with arthritis, associations between ACEs and disease-related characteristics were assessed by Pearson χ2 analyses. RESULTS: Compared with children with no ACEs, children with 1, 2-3, and ≥4 ACEs had an increased odds of having arthritis vs being healthy (adjusted OR for ≥4 ACEs, 9.4; 95% CI, 4.0-22.1) and vs OCPD (adjusted OR for ≥4 ACEs, 3.7; 95% CI-1.7, 8.1). Among children with arthritis, ACEs were associated with worse physical impairment. CONCLUSIONS: Children with higher numbers of ACEs are more likely to have arthritis, when arthritis status is compared either with being healthy or with having OCPD. Further studies are needed to determine the direction of the association between ACEs and childhood arthritis, its impact on disease course, and potential intervention targets that might mitigate these effects.

Relationships Between Material Hardship, Resilience, and Health Care Use.

BACKGROUND: Material hardship has been associated with adverse health care use patterns for children with special health care needs (CSHCN). In this study, we assessed if resilience factors were associated with lower emergency department (ED) visits and unmet health care needs and if they buffered associations between material hardship and health care use for CSHCN and children without special health care needs. METHODS: A cross-sectional study using the 2016 National Survey of Children's Health, restricted to low-income participants (<200% federal poverty level). Separately, for CSHCN and children without special health care needs, weighted logistic regression was used to measure associations between material hardship, 2 resilience factors (family resilience and neighborhood cohesion), and 2 measures of use. Moderation was assessed using interaction terms. Mediation was assessed using structural equation models. RESULTS: The sample consisted of 11 543 children (weighted: n = 28 465 581); 26% were CSHCN. Material hardship was associated with higher odds of ED visits and unmet health care needs for all children. Resilience factors were associated with lower odds of unmet health care needs for CSHCN (family resilience adjusted odds ratio: 0.58; 95% confidence interval: 0.36-0.94; neighborhood cohesion adjusted odds ratio: 0.53; 95% confidence interval: 0.32-0.88). For CSHCN, lower material hardship mediated associations between resilience factors and unmet health care needs. Neighborhood cohesion moderated the association between material hardship and ED visits (interaction term: P = .02). CONCLUSIONS: Among low-income CSHCN, resilience factors may buffer the effects of material hardship on health care use. Future research should evaluate how resilience factors can be incorporated into programs to support CSHCN.

Associations Between Family and Community Protective Factors and Attention-Deficit/Hyperactivity Disorder Outcomes Among US Children.

BACKGROUND: Evidence has established the association between risk factors and attention-deficit/hyperactivity disorder (ADHD) severity, but less is known about factors that may have protective effects on clinical, academic, and social outcomes among children with ADHD. OBJECTIVE: To examine associations between family cohesion, caregiver social support, community support, and (1) ADHD severity, (2) school engagement, and (3) difficulty making or keeping friends. METHODS: Cross-sectional study of school-aged and adolescent children with ADHD using data from the 2016 National Survey of Children's Health. Our outcomes were (1) parent-rated ADHD severity, (2) school engagement, and (3) difficulty making or keeping friends. Our independent variables were (1) family cohesion, (2) caregiver social support, and (3) community support. We used logistic regression models to examine associations between our independent variables and each of our outcome variables, adjusting for child and parent sociodemographic characteristics. RESULTS: In our sample (N = 4,122, weighted N = 4,734,322), children exposed to family cohesion and community support had lower odds of moderate to severe ADHD [adjusted OR (aOR): 0.73 (0.55-0.97); aOR: 0.73 (0.56-0.95), respectively], higher odds of school engagement [aOR: 1.72, (1.25-2.37); aOR: 1.38, (1.04-1.84), respectively], and lower odds of difficulty making or keeping friends [aOR: 0.64, (0.48-0.85); aOR: 0.52, (0.40-0.67), respectively]. CONCLUSION: Among children with ADHD, family cohesion and community support show protective effects in clinical, academic, and social outcomes. Systematically identifying family- and community-level strengths may be important components of multimodal treatment strategies in children with ADHD.

Material Hardships and Health Care Utilization Among Low-Income Children with Special Health Care Needs.

OBJECTIVE: Material hardships, defined as difficulty meeting basic needs, are associated with adverse child health outcomes, including suboptimal health care utilization. Children with special health care needs (CSHCN) may be more vulnerable to the effects of hardships. Our objective was to determine associations between material hardships and health care utilization among CSHCN. METHODS: We conducted a cross-sectional study surveying caregivers of 2- to 12-year-old CSHCN in a low-income, urban area. Independent variables were parent-reported material hardships: difficulty paying bills, food insecurity, housing insecurity, and health care hardship. Dependent variables were parent-reported number of emergency department (ED) visits, any hospital admission, and any unmet health care need. We used negative binomial and logistic regression to assess for associations between each hardship and each outcome. RESULTS: We surveyed 205 caregivers between July 2017 and May 2018 and analyzed the data in 2018. After adjustment, difficulty paying bills (incidence rate ratio [IRR], 1.51; 95% confidence interval [CI], 1.08-2.12) and health care hardship (IRR, 1.72; 95% CI, 1.08-2.75) were associated with higher rates of ED visits. There were no associations between hardships and hospital admission. Difficulty paying bills (adjusted odds ratio [AOR], 2.13; 95% CI, 1.14-3.98), food insecurity (AOR, 1.95; 95% CI, 1.02-3.71), and housing insecurity (AOR, 2.71; 95% CI, 1.36-5.40) were associated with higher odds of unmet health care need. CONCLUSIONS: Material hardships were associated with higher rates of ED visits and greater unmet health care need among low-income CSHCN. Future examination of the mechanisms of these associations is needed to enhance support for families of CSHCN.

Effect of Mental Health Screening and Integrated Mental Health on Adolescent Depression-Coded Visits.

Adolescent depression causes morbidity and is underdiagnosed. It is unclear how mental health screening and integrated mental health practitioners change adolescent depression identification. We conducted a retrospective primary care network natural cohort study where 10 out of 19 practices implemented mental health screening, followed by the remaining 9 practices implementing mental health screening with less coaching and support. Afterward, a different subset of 8 practices implemented integrated mental health practitioners. Percentages of depression-coded adolescent visits were compared between practices (1) with and without mental health screening and (2) with and without integrated mental health practitioners, using difference-in-differences analyses. The incidence of depression-coded visits increased more in practices that performed mental health screening (ratio of odds ratios = 1.22; 95% confidence interval =1.00-1.49) and more in practices with integrated mental health practitioners (ratio of odds ratios = 1.58; 95% confidence interval = 1.30-1.93). Adolescent mental health screening and integrated mental health practitioners increase depression-coded visits in primary care.

Parental Perspectives of Barriers to Physical Activity in Urban Schoolchildren With Asthma.

OBJECTIVE: Physical activity (PA) levels are low in today's youth and may even be lower in those with asthma. Barriers to PA have not been well studied in inner-city minority children with asthma. We conducted a qualitative study to characterize parental perceptions of barriers to PA and ways to improve PA levels in children with asthma. METHODS: We used the socioecologic model to inform development of our interview guide. Questions fell into 2 socioecologic model domains: interpersonal (parent, family) barriers and community (neighborhood, school) barriers. Qualitative semistructured interviews were conducted with 23 parents (21 mothers, 2 fathers) of inner-city children with asthma (aged 8-10 years) from 10 Bronx, New York, elementary schools. Sampling continued until thematic saturation was reached. Interviews were recorded, transcribed, and independently coded for common themes. Emerging themes were discussed and agreed on by investigators. RESULTS: Three themes surrounding interpersonal barriers to PA emerged: 1) parental fear of exercise-induced asthma due to lack of child symptom awareness, 2) nonadherence and refusal to take medications, and 3) challenges with asthma management. Four themes around community barriers to PA emerged: 1) lack of trust in school management of asthma, 2) lack of school PA facilities, 3) unsafe neighborhoods, and 4) financial burden of PA. CONCLUSIONS: A complex, multilevel set of barriers to PA exist in children with asthma. Addressing these barriers by involving stakeholders at the family, school, and community levels may improve PA levels in children with asthma.

Associations Between Adverse Childhood Experiences and ADHD Diagnosis and Severity.

OBJECTIVE: Although identifying adverse childhood experiences (ACEs) among children with behavioral disorders is an important step in providing targeted therapy and support, little is known about the burden of ACEs among children with attention deficit-hyperactivity disorder (ADHD). We described the prevalence of ACEs in children with and without ADHD, and examined associations between ACE type, ACE score, and ADHD diagnosis and severity. METHODS: Using the 2011 to 2012 National Survey of Children's Health, we identified children aged 4 to 17 years whose parents indicated presence and severity of ADHD, and their child's exposure to 9 ACEs. Multivariate logistic regression was used to estimate associations between ACEs, ACE score, and parent-reported ADHD and ADHD severity, adjusted for sociodemographic characteristics. RESULTS: In our sample (N = 76,227, representing 58,029,495 children), children with ADHD had a higher prevalence of each ACE compared with children without ADHD. Children who experienced socioeconomic hardship (adjusted odds ratio [aOR], 1.39; 95% confidence interval [CI], 1.21-1.59), divorce (aOR, 1.34; 95% CI, 1.16-1.55), familial mental illness (aOR, 1.55; 95% CI, 1.26-1.90), neighborhood violence (aOR, 1.47; 95% CI, 1.23-1.75), and incarceration (aOR, 1.39; 95% CI, 1.12-1.72) were more likely to have ADHD. A graded relationship was observed between ACE score and ADHD. Children with ACE scores of 2, 3, and ≥4 were significantly more likely to have moderate to severe ADHD. CONCLUSIONS: Children with ADHD have higher ACE exposure compared with children without ADHD. There was a significant association between ACE score, ADHD, and moderate to severe ADHD. Efforts to improve ADHD assessment and management should consider routinely evaluating for ACEs.

Hot topics, urgent priorities, and ensuring success for racial/ethnic minority young investigators in academic pediatrics.

BACKGROUND: The number of racial/ethnic minority children will exceed the number of white children in the USA by 2018. Although 38% of Americans are minorities, only 12% of pediatricians, 5% of medical-school faculty, and 3% of medical-school professors are minorities. Furthermore, only 5% of all R01 applications for National Institutes of Health grants are from African-American, Latino, and American Indian investigators. Prompted by the persistent lack of diversity in the pediatric and biomedical research workforces, the Academic Pediatric Association Research in Academic Pediatrics Initiative on Diversity (RAPID) was initiated in 2012. RAPID targets applicants who are members of an underrepresented minority group (URM), disabled, or from a socially, culturally, economically, or educationally disadvantaged background. The program, which consists of both a research project and career and leadership development activities, includes an annual career-development and leadership conference which is open to any resident, fellow, or junior faculty member from an URM, disabled, or disadvantaged background who is interested in a career in academic general pediatrics. METHODS: As part of the annual RAPID conference, a Hot Topic Session is held in which the young investigators spend several hours developing a list of hot topics on the most useful faculty and career-development issues. These hot topics are then posed in the form of six "burning questions" to the RAPID National Advisory Committee (comprised of accomplished, nationally recognized senior investigators who are seasoned mentors), the RAPID Director and Co-Director, and the keynote speaker. RESULTS/CONCLUSIONS: The six compelling questions posed by the 10 young investigators-along with the responses of the senior conference leadership-provide a unique resource and "survival guide" for ensuring the academic success and optimal career development of young investigators in academic pediatrics from diverse backgrounds. A rich conversation ensued on the topics addressed, consisting of negotiating for protected research time, career trajectories as academic institutions move away from an emphasis on tenure-track positions, how "non-academic" products fit into career development, racism and discrimination in academic medicine and how to address them, coping with isolation as a minority faculty member, and how best to mentor the next generation of academic physicians.