Faculty Bibliography

BACKGROUND/UNASSIGNED:Fetal cardiomyopathy is a rare condition, often with an unknown cause and associated with high perinatal mortality. Recent years have seen improvement in fetal cardiac screening, genetic testing, and management. We sought to investigate genetic associations and clinical outcomes of fetal cardiomyopathy in the contemporary era. METHODS/UNASSIGNED:A single-arm (descriptive) retrospective cohort study of fetal cardiomyopathy cases diagnosed from January 2017 to December 2021 at 26 North American centers in the Fetal Heart Society Research Collaborative was undertaken. Cases attributable to maternal diabetes, extra-cardiac conditions, structural heart disease, or arrhythmias were excluded. Genetic testing results, extra-cardiac structural anomalies, and outcomes were collected. Logistic regression was performed to determine prenatal risk factors for death or cardiac transplantation by 1-year of age. Descriptive competing-risk analyses (cumulative incidence functions) and Kaplan-Meier survival estimates were used to describe outcomes. Multivariable logistic regression with 5 prespecified covariates was performed to identify prenatal factors associated with death or cardiac transplantation by 1-year of age. RESULTS/UNASSIGNED:≤0.001) were significantly associated with death or transplant by 1-year of age. CONCLUSIONS/UNASSIGNED:Fetal cardiomyopathy outcomes have improved in the current era, although only half achieve 1-year cardiac transplant-free survival. Genetic testing identifies a cause in one-third of cases. Hydrops at the time of fetal cardiomyopathy diagnosis and a prenatal diagnosis of extra-cardiac structural anomalies remain important risk factors for mortality.

Childhood mental health, emotional, and behavioral problems are common and have reached crisis proportions, yet they often go undetected and untreated despite being responsible for significant morbidity and mortality. Approximately 16% of children under 6 years of age have clinically significant mental health difficulties, which require attention in early life¹ Early intervention in infant mental health can have a profound impact on a child's future development and well-being. While pediatric primary care is an ideal setting for early detection of mental, emotional, and behavioral symptoms and social determinants of health, until recently, mental health training for pediatric residents was limited to elective experiences that were not standardized nor mandatory. With the recent ACGME addition of a required mental health rotation in pediatric residency curricula, our service assembled a panel of experts in infant mental health to identify the most important curricular elements to include as part of the Pediatrics Mental Health rotation in our safety net hospital. In the Pediatric Mental Health rotation at our institution, one of the four pediatric mental health rotation weeks was dedicated to Infant/Preschool Mental Health (0-6 years old). This manuscript provides background information and resources that can be used by pediatricians, and which can assist in the process of designing curricula for pediatric residents.

This study examines for whom and how Organizational Skills Training-Tier 2 (OST-T2, Nissley-Tsiopinis et al., 2024) works for students in grades 3 to 5 with organization, time management, and planning (OTMP) difficulties. The study: (1) investigates subgroup differences for the effect of OST-T2 on student homework and academic performance at post-intervention (about 14 weeks), short-term (about 22 weeks) and long-term follow-up (about 55 weeks); and (2) examines whether improvements in student OTMP skills at 14 weeks mediate the effect of OST-T2 on academic and homework performance at 22 weeks. The study used a cluster-randomized design with 22 schools; 182 students in moderation analyses and 133 in mediation analyses. Subgroup-defining variables were: (a) likely diagnosis of ADHD, (b) caregiver-reported child anxiety, (c) severity of baseline OTMP and homework problems, and (d) family socioeconomic level. Findings suggested that OST-T2 is more effective among children with higher anxiety levels as reported by caregivers. The difference in change scores between the high and low anxiety groups on the caregiver-rated metric of OTMP and homework problems was -0.76 (Cohen's d) at post-treatment (95% CI = -0.12, -1.21, p = .021), -0.66 at 22 weeks (95% CI = -0.08, -1.09, p = .017), and - 0.55 at 55 weeks (95% CI = -0.07, -1.03, p = .026). The analyses generally did not detect subgroup effects based on ADHD diagnostic status and families differing in socioeconomic levels. Results also suggested improvements in OTMP skills in response to OST-T2 are likely to signal downstream impact on student homework performance; estimated average causal mediation effect was -0.66 (95% CI = -1.27, -0.19, p < .001), whereas the average direct effect was only -0.07. Additional longitudinal research with larger samples on predefined subgroups is needed.

Trajectories of age-related neurocognitive decline are nonuniform, and are impacted by numerous environmental and physiological factors. Earlier life phases set the stage for later life neurocognitive function, with midlife marking a critical transition characterized by increasing variability in cognitive, affective, and physiological functioning. Despite its importance, this turbulent period remains underrepresented in open neuroimaging data resources. To address this gap, the Nathan Kline Institute - Rockland Sample (NKI-RS) created 'Mapping Interindividual Variation in the Aging Connectome' (MIVAC), an openly shared, multimodal dataset designed to map brain aging trajectories beginning in midlife and assess the influence of key modifiable factors linked to dementia prevention such as cardiorespiratory fitness, sleep, and mood. This longitudinal investigation includes 348 community-ascertained participants aged 38 to 71 years at baseline, with 219 participants completing 3 annual timepoints. Data collection incorporated deep phenotyping, including detailed assessment of cognitive, behavioral, medical, and cardiorespiratory fitness domains, to compliment multimodal neuroimaging (resting-state fMRI, diffusion MRI, morphometric MRI, and arterial spin labeling) and biospecimen collection. The protocol harmonizes with prior NKI-RS sub studies, enabling lifespan cross-sectional or longitudinal questions, while incorporating age-specific considerations for cognitive and neural aging. The full dataset is openly available.

OBJECTIVE/UNASSIGNED:Gender-diverse individuals often face a burden of poor mental health. This study examined whether gender-diverse experiences were associated with higher levels of loneliness in adolescents, over and above depression and anxiety, and how family environmental factors, including maladaptive parenting, being bullied by a sibling at home (victimization), and bullying a sibling at home (perpetration), moderate the associations between gender-diverse and loneliness experiences among 4,424 adolescents in a population-based cohort. METHOD/UNASSIGNED:This cross-sectional study was embedded in Generation R, a multiethnic population-based cohort from fetal life onward. Adolescents with information on self-reported or parent-reported gender diversity and loneliness at ages 13 to 15 years were included. RESULTS/UNASSIGNED:s > .10). CONCLUSION/UNASSIGNED:Gender diversity is associated with higher levels of loneliness in adolescents. Being a target of bullying modified the association of gender diversity with loneliness experiences, suggesting that gender-diverse adolescents who are bullied by siblings experience particularly higher levels of loneliness.

BACKGROUND:Sex differences in adolescent mental disorders are well documented, but less is known about how these differences evolve during the transition to adulthood, particularly during the shift from Child and Adolescent Mental Health Services (CAMHS) to Adult Mental Health Services (AMHS), a critical period marked by vulnerability to discontinuity of care. OBJECTIVE:To examine sex-specific differences in psychiatric symptom profiles and clinical trajectories during the CAMHS-AMHS transition using data from the European MILESTONE project, a 2-year longitudinal study. METHODS:A cohort of 1004 adolescents (aged 17-19) in CAMHS was assessed at baseline (T1), 9 months (T2), 15 months (T3) and 24 months (T4). Measures included the Child Behavior Checklist/Adult Behavior Checklist, Health of the Nation Outcome Scales for Children and Adolescents, and the Specific Level of Functioning Scale. Multilevel modelling included sex, diagnosis and time point as covariates, testing three-way interactions for differential trajectories. FINDINGS/RESULTS:Males showed higher symptom severity and impairment across measures, particularly in anxiety/somatic/trauma, eating disorder/obsessive-compulsive disorder (ED/OCD) and schizophrenia. Females exhibited better functioning. Significant sex differences emerged in internalising symptoms (eg, anxiety/somatic/trauma, autism spectrum disorder (ASD)), externalising symptoms (eg, attention deficit hyperactivity disorder (ADHD)), overall psychopathology (eg, ADHD, personality disorder/conduct disorder/substance use disorder) and functioning (eg, ED/OCD, schizophrenia spectrum disorder). CONCLUSIONS:Sex-related differences in symptom severity, diagnosis and functioning persist across the CAMHS-AMHS transition, with males generally more impaired and females showing better adaptive outcomes. CLINICAL IMPLICATIONS/CONCLUSIONS:Identifying sex-specific trajectories can enhance personalised transitional care, reduce misdiagnosis and guide targeted interventions-especially for under-recognised presentations such as ADHD/ASD in females and ED in males. TRIAL REGISTRATION NUMBER/BACKGROUND:ISRCTN83240263.

Traumatic experiences in early childhood trauma are increasingly recognized as a major public health concern, with infants and toddlers particularly vulnerable because of their rapidly developing brains. Repeated or prolonged exposure to trauma is shown to disrupt neurodevelopment, particularly in brain regions responsible for emotion regulation, executive functioning, stress-response processing, and memory. While it is well established that early childhood trauma negatively impacts social, emotional, and cognitive development, growing evidence demonstrates that early trauma also contributes to long term physical health challenges. In young children, trauma frequently manifests through physiological and bodily symptoms due to their limited capacity to communicate psychological distress. As a result, trauma may present as heightened arousal, somatic issues, sleep disturbances, and feeding difficulties. These concerns are commonly encountered in pediatric healthcare settings, though they may be overlooked or misattributed because of their overlap with other medical conditions. Early childhood represents a critical time for identification and intervention. Pediatric providers are uniquely positioned to identify these early physiological signs of trauma in young children because of their frequent touch points with families. A greater understanding of the manifestations of early trauma in health is needed to improve diagnostic accuracy and promote early intervention. In this paper, we review the effects of early trauma on the physical health of infants and toddlers, highlighting the critical role of pediatric providers in early identification and the integration of trauma-informed care within pediatric settings.

INTRODUCTION/BACKGROUND:Serotonin (5-hydroxytryptamine [5-HT]) plays an important role in early development, and fetal 5-HT has been reported to arise from placental and maternal sources. Previous human studies have established an association between maternal 5-HT levels and neurodevelopmental outcomes in populations with autism. In this study, we analyze umbilical cord blood and placental 5-HT levels at birth to further investigate the relationship of gestational 5-HT levels with birth outcomes and offspring cognitive development. METHODS:Participants were enrolled in the Safe Passage Study conducted by the Prenatal Alcohol and SIDS and Stillbirth (PASS) Network. Infant cord blood and placental samples were collected postdelivery, and 5-HT levels were measured using high-performance liquid chromatography-fluorometric analysis. The Mullen Scales of Early Learning (MSEL) assessed child development at 12 months. Associations between 5-HT levels and birth outcomes or developmental outcomes were assessed using linear regression models. RESULTS:No significant association was found between cord blood (n = 418) and placental (n = 89) 5-HT levels. Preterm birth was associated with lower cord blood 5-HT levels, and increasing gestational age among full-term infants was associated with higher cord blood 5-HT levels. Cord blood 5-HT was significantly associated with the Mullen Scales of Early Learning Composite Score, and follow-up analyses revealed a significant association between cord blood 5-HT and fine motor skills. No association was found between placental 5-HT and the Mullen composite score. CONCLUSION/CONCLUSIONS:To our knowledge, this study is the first to evaluate the relationship between placental 5-HT levels and cord blood 5-HT levels at birth. The lack of association suggests that cord blood 5-HT levels are likely to be a better index of fetal 5-HT exposure. Associations between cord blood 5-HT and child cognitive development are consistent with previous studies showing an association between maternal 5-HT levels and neurodevelopmental trajectories. Further research is needed to better characterize these relationships and to elucidate the distinct contributions of maternal, placental, and fetal 5-HT sources across developmental time points.

OBJECTIVE/BACKGROUND/OBJECTIVE:Attention-Deficit/Hyperactivity Disorder (ADHD) is common in children. Many children with ADHD have chronic insomnia, which is associated with negative outcomes for the child and family and can worsen ADHD symptoms. Behavioural sleep interventions can be effective for children with ADHD and are the recommended first-line approach to management. However, many parents/carers may not have access to, or struggle to implement, interventions in practice. This study explored parents/carers views and experiences of: 1) behavioural sleep management strategies, 2) help-seeking for managing sleep problems and 3) perceptions about a potential digital sleep guide for managing sleep problems. PATIENTS/METHODS/METHODS:A qualitative study using semi-structured interviews of parents/carers of children with ADHD/ADHD traits and chronic insomnia symptoms (CIS). Participants were recruited via social media and purposively sampled for diverse characteristics. Interviews were conducted by telephone/videocall, recorded and transcribed verbatim. Data were analysed using inductive thematic analysis. RESULTS:Eighteen parents/carers took part; two themes and six subthemes were developed. Despite valuing behavioural sleep strategies, parents/carers noted many challenges to engaging with them, including perceiving these strategies to be both ineffective for children with ADHD and not easy to implement in the real world. They described that tiredness, exhaustion, ADHD symptoms and challenging behaviour make parent engagement with strategies difficult. Parents/carers welcomed digital support in principle, particularly because they perceived health professional support to be lacking. However, they noted that digital interventions must address their key support needs regarding flexibility, realistic expectations and a pragmatic approach, as well as comradeship, support and testimonials from other parents/carers. CONCLUSION/CONCLUSIONS:Tailored but flexible support and reassurance are necessary for parents/carers of children with ADHD and CIS. Digital support must validate parent/carer experiences and include experiences from other parents/carers.