Missing Ethnicity and Language Information in Healthcare Records of Patients from the Asian Diaspora.

The electronic health record (EHR) should contain information to support culturally responsive care and research; however, the widely used default "Asian" demographic variable in most US social systems (including EHRs) lacks information to describe the diverse experience within the Asian diaspora (e.g., ethnicities, languages). This has a downstream effect on research, identifying disparities, and addressing health equity. We were particularly interested in EHRs of autistic patients from the Asian diaspora, since the presence of a developmental diagnosis might call for culturally responsive care around understanding causes, treatments, and services to support good outcomes. The aim of this study is to determine the degree to which information about Asian ethnicity, languages, and culture is documented and accessible in the EHR, and whether it is differentially available for patients with or without autism. Using electronic and manual medical chart review, all autistic and "Asian" children (group 1; n = 52) were compared to a randomly selected comparison sample of non-autistic and "Asian" children (group 2; n = 50). Across both groups, manual chart review identified more specific approximations of racial/ethnic backgrounds in 54.5% of patients, 56% for languages spoken, and that interpretation service use was underestimated by 13 percentage points. Our preliminary results highlight that culturally responsive information was inconsistent, missing, or located in progress notes rather than a central location where it could be accessed by providers. Recommendations about the inclusion of Asian ethnicity and language data are provided to potentially enhance cultural responsiveness and support better outcomes for families with an autistic child.

Progesterone for Neurodevelopment in Fetuses With Congenital Heart Defects: A Randomized Clinical Trial.

Importance: Neurodevelopmental outcomes for children with congenital heart defects (CHD) have improved minimally over the past 20 years. Objectives: To assess the feasibility and tolerability of maternal progesterone therapy as well as the magnitude of the effect on neurodevelopment for fetuses with CHD. Design, Setting, and Participants: This double-blinded individually randomized parallel-group clinical trial of vaginal natural progesterone therapy vs placebo in participants carrying fetuses with CHD was conducted between July 2014 and November 2021 at a quaternary care children's hospital. Participants included maternal-fetal dyads where the fetus had CHD identified before 28 weeks' gestational age and was likely to need surgery with cardiopulmonary bypass in the neonatal period. Exclusion criteria included a major genetic or extracardiac anomaly other than 22q11 deletion syndrome and known contraindication to progesterone. Statistical analysis was performed June 2022 to April 2024. Intervention: Participants were 1:1 block-randomized to vaginal progesterone or placebo by diagnosis: hypoplastic left heart syndrome (HLHS), transposition of the great arteries (TGA), and other CHD diagnoses. Treatment was administered twice daily between 28 and up to 39 weeks' gestational age. Main Outcomes and Measures: The primary outcome was the motor score of the Bayley Scales of Infant and Toddler Development-III; secondary outcomes included language and cognitive scales. Exploratory prespecified subgroups included cardiac diagnosis, fetal sex, genetic profile, and maternal fetal environment. Results: The 102 enrolled fetuses primarily had HLHS (n = 52 [50.9%]) and TGA (n = 38 [37.3%]), were more frequently male (n = 67 [65.7%]), and without genetic anomalies (n = 61 [59.8%]). The mean motor score differed by 2.5 units (90% CI, -1.9 to 6.9 units; P = .34) for progesterone compared with placebo, a value not statistically different from 0. Exploratory subgroup analyses suggested treatment heterogeneity for the motor score for cardiac diagnosis (P for interaction = .03) and fetal sex (P for interaction = .04), but not genetic profile (P for interaction = .16) or maternal-fetal environment (P for interaction = .70). Conclusions and Relevance: In this randomized clinical trial of maternal progesterone therapy, the overall effect was not statistically different from 0. Subgroup analyses suggest heterogeneity of the response to progesterone among CHD diagnosis and fetal sex. Trial Registration: ClinicalTrials.gov Identifier: NCT02133573.

Anesthesia and Sedation Exposure and Neurodevelopmental Outcomes in Infants Undergoing Congenital Cardiac Surgery: A Retrospective Cohort Study.

BACKGROUND: Children undergoing complex cardiac surgery are exposed to substantial cumulative doses of sedative medications and volatile anesthetics and are more frequently anesthetized with ketamine, compared with healthy children. This study hypothesized that greater exposure to sedation and anesthesia in this population is associated with lower neurodevelopmental scores at 18 months of age. METHODS: A secondary analysis was conducted of infants with congenital heart disease who participated in a prospective observational study of environmental exposures and neurodevelopmental outcomes to assess the impact of cumulative volatile anesthetic agents and sedative medications. Cumulative minimum alveolar concentration hours of exposure to volatile anesthetic agents and all operating room and intensive care unit exposures to sedative and anesthesia medications were collected before administration of Bayley Scales of Infant and Toddler Development, 3rd edition (Bayley III), at 18 months of age. RESULTS: The study cohort included 41 (37%) single-ventricle and 69 (63%) two-ventricle patients. Exposures to volatile anesthetic agents, opioids, benzodiazepines, and dexmedetomidine were not associated with abnormal Bayley III scores. At 18-month follow-up, after adjusting for confounders, each mg/kg increase in ketamine exposure was associated with a 0.34 (95% CI, -0.64 to -0.05) point decrease in Bayley III motor scores (P = 0.024). CONCLUSIONS: Total cumulative exposures to volatile anesthetic agents were not associated with neurodevelopmental impairment in infants with congenital heart disease undergoing various imaging studies and procedures, whereas higher ketamine doses were associated with poorer motor performance.

Prevalence of autism spectrum disorder in a large pediatric primary care network.

LAY ABSTRACT: Historically, children from non-Hispanic Black and Hispanic backgrounds, those from lower-income families, and girls are less likely to be diagnosed with autism spectrum disorder. Under-identification among these historically and contemporaneously marginalized groups can limit their access to early, autism spectrum disorder-specific interventions, which can have long-term negative impacts. Recent data suggest that some of these trends may be narrowing, or even reversing. Using electronic health record data, we calculated autism spectrum disorder prevalence rates and age of first documented diagnosis across socio-demographic groups. Our cohort included children seen at young ages (when eligible for screening in early childhood) and again at least after 4 years of age in a large primary care network. We found that autism spectrum disorder prevalence was unexpectedly higher among Asian children, non-Hispanic Black children, children with higher Social Vulnerability Index scores (a measure of socio-economic risk at the neighborhood level), and children who received care in urban primary care sites. We did not find differences in the age at which autism spectrum disorder diagnoses were documented in children's records across these groups. Receiving primary care at an urban site (regardless of location of specialty care) appeared to account for most other socio-demographic differences in autism spectrum disorder prevalence rates, except among Asian children, who remained more likely to be diagnosed with autism spectrum disorder after controlling for other factors. We must continue to better understand the process by which children with autism spectrum disorder from traditionally under-identified and under-served backgrounds come to be recognized, to continue to improve the equity of care.

Childhood exposures to environmental chemicals and neurodevelopmental outcomes in congenital heart disease.

BACKGROUND: Children with congenital heart defects have an increased risk of neurodevelopmental disability. The impact of environmental chemical exposures during daily life on neurodevelopmental outcomes in toddlers with congenital heart defects is unknown. METHODS: This prospective study investigated the impacts of early childhood exposure to mixtures of environmental chemicals on neurodevelopmental outcomes after cardiac surgery. Outcomes were assessed at 18 months of age using The Bayley Scales of Infant and Toddler Development-III. Urinary concentrations of exposure biomarkers of pesticides, phenols, parabens, and phthalates, and blood levels of lead, mercury, and nicotine were measured at the same time point. Bayesian profile regression and weighted quantile sum regression were utilized to assess associations between mixtures of biomarkers and neurodevelopmental scores. RESULTS: One-hundred and forty infants were enrolled, and 110 (79%) returned at 18 months of age. Six biomarker exposure clusters were identified from the Bayesian profile regression analysis; and the pattern was driven by 15 of the 30 biomarkers, most notably 13 phthalate biomarkers. Children in the highest exposure cluster had significantly lower adjusted language scores by -9.41 points (95%CI: -17.2, -1.7) and adjusted motor scores by -4.9 points (-9.5, -0.4) compared to the lowest exposure. Weighted quantile sum regression modeling for the overall exposure-response relationship showed a significantly lower adjusted motor score (ß = -2.8 points [2.5th and 97.5th percentile: -6.0, -0.6]). The weighted quantile sum regression index weights for several phthalates, one paraben, and one phenol suggest their relevance for poorer neurodevelopmental outcomes. CONCLUSIONS: Like other children, infants with congenital heart defects are exposed to complex mixtures of environmental chemicals in daily life. Higher exposure biomarker concentrations were associated with significantly worse performance for language and motor skills in this population.

Autism Spectrum Disorder Screening During the COVID-19 Pandemic in a Large Primary Care Network.

OBJECTIVE: To assess the impact of the COVID-19 pandemic on screening for autism spectrum disorder (ASD) and screening equity among eligible children presenting for well-child care in a large primary care pediatric network, we compared rates of ASD screening completion and positivity during the pandemic to the year prior, stratified by sociodemographic factors. METHODS: Patients who presented for in-person well-child care at 16 to 26 months between March 1, 2020 and February 28, 2021 (COVID-19 cohort, n = 24,549) were compared to those who presented between March 1, 2019 and February 29, 2020 (pre-COVID-19 cohort, n = 26,779). Demographics and rates of completion and positivity of the Modified Checklist for Autism in Toddlers with Follow-up (M-CHAT/F) were calculated from the electronic health record and compared by cohort using logistic regression models. RESULTS: Total eligible visits decreased by 8.3% between cohorts, with a greater decline in Black and publicly insured children. In the pre-COVID-19 cohort, 89.0% of eligible children were screened at least once, compared to 86.4% during the pandemic (P < 0.001). Significant declines in screening completion were observed across all sociodemographic groups except among Asian children, with the sharpest declines among non-Hispanic White children. Sociodemographic differences were not observed in screen-positive rates by cohort. CONCLUSIONS: Well-child visits and ASD screenings declined across groups, but with different patterns by race and ethnicity during the COVID-19 pandemic. Findings regarding screen-completion rates should not be interpreted as a decline in screening disparities, given differences in who presented for care. Strategies for catch-up screening for all children should be considered.

Promoting Early Literacy Using Digital Devices: A Pilot Randomized Controlled Trial.

OBJECTIVE: To determine feasibility and explore effects of literacy promotion using e-books versus board books on the home reading environment, book reading, television use, and child development. METHODS: Randomized controlled trial comparing digital literacy promotion (DLP) using e-books to standard literacy promotion (SLP) using board books among Medicaid-eligible infants. DLP participants received e-books on home digital devices, while SLP participants received board books at well visits between 6 and 12 months of age. Differences in StimQ Read Subscale (StimQ-Read) scores, parent-reported reading and television use, and Bayley Scales of Infant Development-3rd Edition (Bayley-3) scores between groups were assessed using intention-to-treat analysis. RESULTS: A total of 104 Medicaid-eligible infants were enrolled and randomized from 3 pediatric practices. There were no differences in sociodemographic characteristics between groups at baseline. Children in the DLP group initially had lower StimQ-Read scores but showed similar increases in StimQ-Read scores over time as children in the SLP group. Parents in the DLP group reported greater use of digital devices to read or engage their child (65% vs 23%, P < .001) but similar board book reading and television viewing. There were no differences between groups in cognitive or motor scale scores, but DLP participants had marginally lower language scales scores (DLP 85.7 vs SLP 89.7; P = .10) at the 6-month follow-up. CONCLUSIONS/DISCUSSION: Literacy promotion using e-books was feasible and associated with greater e-book usage but no difference in board book reading, television viewing, or home reading environment scores. A potential adverse impact of e-books on language development should be confirmed in future study.

Survival and Developmental Outcomes of Neonates Treated with Extracorporeal Membrane Oxygenation: A 10-Year Single-Center Experience.

OBJECTIVE: To evaluate the associations between the primary indication for extracorporeal membrane oxygenation (ECMO) in neonates and neurodevelopmental outcomes at 12 and 24 months of age. STUDY DESIGN: This is a retrospective cohort study of neonates treated with ECMO between January 2006 and January 2016 in the Children's Hospital of Philadelphia newborn/infant intensive care unit. Primary indication for ECMO was classified as medical (eg, meconium aspiration syndrome) or surgical (eg, congenital diaphragmatic hernia). Primary study endpoints were assessed with the Bayley Scales of Infant and Toddler Development, Third Edition (Bayley-III). Groups were compared with standard bivariate testing and multivariable regression. RESULTS: A total of 191 neonates met the study's inclusion criteria, including 96 with a medical indication and 95 with a surgical indication. Survival to discharge was 71%, with significantly higher survival in the medical group (82% vs 60%; P = .001). Survivors had high rates of developmental therapies and neurosensory abnormalities. Developmental outcomes were available for 66% at 12 months and 70% at 24 months. Average performance on the Bayley-III was significantly below expected population normative values. Surgical patients had modestly lower the Bayley-III scores over time; most notably, 15% of medical infants and 49% of surgical infants had motor delay at 24 months (P = .03). CONCLUSIONS: In this single-center cohort, surgical patients had lower survival rates and higher incidence of motor delays. Strategies to reduce barriers to follow-up and improve rates of postdischarge developmental surveillance and intervention in this high-risk population are needed.

Early language measures associated with later psychosis features in 22q11.2 deletion syndrome.

The 22q11.2 deletion syndrome (22q11DS) is associated with impaired cognitive functions and increased risk for schizophrenia spectrum disorders. Speech and language deficits are prominent, with evidence of decline anteceding emergence of psychosis. There is paucity of data examining language function in children with 22q11DS with follow-up assessment of psychosis spectrum (PS) symptoms. We examined the association between early language measures, obtained clinically, and PS status, obtained on average 10.1 years later, in 166 youths with 22q11DS, with repeated language testing in 48. Participants were administered the Preschool Language Scale (receptive/expressive), and/or, for school aged children, the Clinical Evaluation of Language Fundamentals (receptive/expressive), and age appropriate IQ tests. The structured interview for prodromal syndromes (SIPS) assessed PS symptoms. We found that performance on all preschool measures showed age associated decline, and males performed more poorly on core composite (receptive/expressive) and receptive language measures. For language assessment later in childhood, poorer performance was consistently associated with subsequent PS status. Furthermore, steeper age-related decline was seen in the PS group across language measures and marginally for full-scale IQ. These findings suggest that while preschool language testing is useful in characterizing performance decline in individuals with 22q11DS, it does not robustly differentiate those with subsequent PS from those without. However, language testing in the school age population can help identify individuals with 22q11DS who are at risk for psychosis. Such data are needed for elucidating a lifespan trajectory for affected individuals and may help understand pathways to psychosis applicable to the general population.

Adherence to screening and referral guidelines for autism spectrum disorder in toddlers in pediatric primary care.

OBJECTIVES: Although the American Academy of Pediatrics recommends screening for autism spectrum disorder (ASD) for all young children, disparities in ASD diagnosis and intervention in minority children persist. One potential contributor to disparities could be whether physicians take different actions after an initial positive screen based on patient demographics. This study estimated factors associated with physicians completing the follow-up interview for the Modified Checklist for Autism in Toddlers with Follow-up (M-CHAT-F), and referring children to diagnostic services, audiology, and Early Intervention (EI) immediately after a positive screen. METHODS: Children seen in a large primary care network that has implemented universal ASD screening were included if they screened positive on the M-CHAT parent questionnaire during a 16-30 month well child visit (N = 2882). Demographics, screening results, and referrals were extracted from the electronic health record. RESULTS: Children from lower-income families or on public insurance were more likely to have been administered the follow-up interview. Among children who screened positive, 26% were already in EI, 31% were newly referred to EI, 11% were referred each to audiology and for comprehensive ASD evaluation. 40.2% received at least one recommended referral; 3.7% received all recommended referrals. In adjusted multivariable models, male sex, white versus black race, living in an English-speaking household, and having public insurance were associated with new EI referral. Male sex, black versus white race, and lower household income were associated with referral to audiology. Being from an English-speaking family, white versus Asian race, and lower household income were associated with referral for ASD evaluation. A concurrent positive screen for general developmental concerns was associated with each referral. CONCLUSIONS: We found low rates of follow-up interview completion and referral after positive ASD screen, with variations in referral by sex, language, socio-economic status, and race. Understanding pediatrician decision-making about ASD screening is critical to improving care and reducing disparities.

Effects of Early Literacy Promotion on Child Language Development and Home Reading Environment: A Randomized Controlled Trial.

Objective: To determine if early literacy promotion, which consisted of board books and reading promotion beginning with newborns, is more effective than standard literacy promotion beginning at 6 months. Study design: Hybrid type 1 randomized controlled implementation trial of Medicaid-eligible newborns. Prior to 6 months of age, early literacy promotion participants received board books and reading promotion at well visits plus weekly text messages on reading, while standard literacy promotion participants only received weekly text messages on safety. Both groups received board books and reading promotion at well visits after 6 months as part of Reach Out and Read. Measures included proportion who received board books to assess implementation and StimQ Read Subscale (SQRS) scores and Preschool Language Scale-Fifth Edition (PLS-5) scores at 6 and 24 months to assess outcomes. Differences in measures were assessed using intention-to-treat analysis. Results: Of 120 newborns enrolled, most were African American, resided with a single parent, or had a parent with ≤high school education. Overall 82% of early literacy promotion participants received books/counseling at well visits <6 months old. Children in the early literacy promotion arm had greater SQRS scores (11.0 vs 9.4, P = .006) but similar PLS-5 scores at 6 months, but there were no differences in SQRS or PLS-5 scores between groups at 24 months. Conclusions: Implementation of a literacy promotion program early in infancy was associated with richer home reading environments at 6 months but did not improve language development. Although an early literacy program was feasible, additional study may be needed to assess other potential benefits. Trial registration: Clinicaltrials.gov: NCT02713659.

Identification and Management of Adolescent Depression in a Large Pediatric Care Network.

OBJECTIVE: Primary care has been promoted as a setting to identify and manage adolescent depression. This study examined primary care-based adolescent depression identification and follow-up care when elevated symptoms were identified. METHODS: Data came from a large pediatric care network with an organizational recommendation to screen for depression at age 16 well-visits using an electronic health record (EHR)-integrated standardized measure. Analyses examined rates of screening and elevated symptoms, pediatricians' initial responses to elevated scores, and types of follow-up care received over 1 year using retrospective EHR data extraction and manual chart reviews. RESULTS: Across program sites, 76.3% (n = 6981) of patients attending their age 16 well-visits were screened. About one-quarter had an elevated score (19.2% mild and 6.7% moderate-to-severe), many of whom received active follow-up on their well-visit date. Over 1 year, three-fourths of patients with scores in the moderate-to-severe range and 40.0% of patients with scores in the mild range received follow-up care (e.g., antidepressant prescriptions) as per EHR extraction. Follow-up rates were higher as per manual chart reviews. CONCLUSION: Routine adolescent depression screening is feasible across diverse primary care sites. Most patients with elevated scores were not already receiving behavioral health services, suggesting screening identified previously undetected concerns. In turn, many adolescents with elevated scores initiated treatment after screening, which indicates providing screen results at the point of care may facilitate pediatrician actions. Still, gaps in follow-up care demonstrate the need for greater investment in primary care-based behavioral health services to support high-quality treatment and ultimately decrease the burden of adolescent depression.

Accuracy of Autism Screening in a Large Pediatric Network.

BACKGROUND: Universal screening is recommended to reduce the age of diagnosis for autism spectrum disorder (ASD). However, there are insufficient data on children who screen negative and no study of outcomes from truly universal screening. With this study, we filled these gaps by examining the accuracy of universal screening with systematic follow-up through 4 to 8 years. METHODS: Universal, primary care-based screening was conducted using the Modified Checklist for Autism in Toddlers with Follow-Up (M-CHAT/F) and supported by electronic administration and integration into electronic health records. All children with a well-child visit (1) between 16 and 26 months, (2) at a Children's Hospital of Philadelphia site after universal electronic screening was initiated, and (3) between January 2011 and July 2015 were included (N = 25 999). RESULTS: Nearly universal screening was achieved (91%), and ASD prevalence was 2.2%. Overall, the M-CHAT/F's sensitivity was 38.8%, and its positive predictive value (PPV) was 14.6%. Sensitivity was higher in older toddlers and with repeated screenings, whereas PPV was lower in girls. Finally, the M-CHAT/F's specificity and PPV were lower in children of color and those from lower-income households. CONCLUSIONS: Universal screening in primary care is possible when supported by electronic administration. In this "real-world" cohort that was systematically followed, the M-CHAT/F was less accurate in detecting ASD than in previous studies. Disparities in screening rates and accuracy were evident in traditionally underrepresented groups. Future research should focus on the development of new methods that detect a greater proportion of children with ASD and reduce disparities in the screening process.

Timing of Referral to Early Intervention Services in Infants With Severe Bronchopulmonary Dysplasia.

This study is a secondary analysis of an observational prospective case series of 50 infants with severe bronchopulmonary dysplasia that describes patient factors associated with the time between initial hospital discharge and referral to early intervention (EI) services. It also evaluates associations between (1) timing of EI referral and reception of EI services and (2) early referral to EI and developmental outcomes at 18 to 36 months corrected age. The results demonstrated that a referral from a neonatologist versus a pediatrician was associated with fewer days between discharge and EI referral. Earlier EI referrals were associated with a shorter time to intake evaluation and service initiation. The Bayley-III (Bayley Scales of Infant and Toddler Development, 3rd Edition) scores at 24 months corrected age (n = 28) were not associated with timing of EI referral. In conclusion, an early referral to EI promoted earlier evaluation and initiation of EI services and should be standard for high-risk infants.

Autism spectrum disorder and neurodevelopmental delays in children with giant omphalocele.

OBJECTIVE: To determine the prevalence and identify risk factors of autism spectrum disorders (ASDs) and neurodevelopmental delays in giant omphalocele (GO) survivors. MATERIALS AND METHODS: The study cohort consists of 47 GO survivors enrolled in our follow-up program between 07/2004 and 12/2015. All patients underwent assessments at 2 years of age or older. Outcomes were assessed by either the Bayley Scales of Infant Development II (prior 2006) or III (after 2006), or the Wechsler Preschool and Primary Scale of Intelligence (children older than 4 years). ASD diagnosis was made based on the Diagnostic and Statistical Manual of Mental Disorders IV (prior to 2014) or 5 criteria. RESULTS: The prevalence of ASD in GO children is 16 times higher than the general population (P = 0.0002). ASD patients were more likely to be diagnosed with neurodevelopmental and neurofunctional delays, language disorders, and genetic abnormalities (P < 0.01). While 53.2% of GO children scored within the average range for all developmental domains, 19.1% scored within the mildly delayed and 27.7% in the severe delayed range in at least one domain. Prolonged respiratory support, pulmonary hypertension, gastroesophageal reflux disease, feeding problems, prolonged hospitalization, abnormal BAER hearing screen, presence of delayed motor coordination, and hypotonicity were associated with delayed scores (P < 0.05). CONCLUSIONS: There is a significant rate of ASD in GO survivors. Neurodevelopmental delays, language delays, and genetic abnormalities were strongly associated with ASD. Neurological impairments were present in nearly half of GO children. Surrogate markers of disease severity were associated with below average neurodevelopmental scores. Level of evidence Level IV.

Psychometric Properties of Two Developmental Screening Instruments for Hispanic Children in the Philadelphia Region.

OBJECTIVE: To assess the validity of Spanish versions of the Survey of Well-being of Young Children (SWYC) Milestones and the Ages & Stages Questionnaire, Third Edition (ASQ-3), and to document the rates of developmental delays in an urban cohort of children with Hispanic parents. METHODS: Spanish-speaking families with a child 9 to 60 months of age (N = 991) were initially screened using Spanish translations of the SWYC Milestones and the ASQ-3. A stratified random sample of 494 of these children subsequently received standardized clinical assessment to confirm the presence of developmental delays. Reverse weighting corrected for the selection bias inherent in the stratification scheme. RESULTS: Fifty-five percent of toddlers (9 to 41 months of age) and 34.8% of preschoolers (42 to 60 months of age) scored in the moderately to severely delayed range, most frequently in language. Sensitivity and specificity for toddlers with severe delays associated with the SWYC were 0.69 and 0.64, respectively, and 0.55 and 0.75 for the ASQ-3. Sensitivity and specificity for preschoolers with severe delays associated with the SWYC were 0.87 and 0.58, respectively, and 0.71 and 0.86 for the ASQ-3. CONCLUSIONS: Although psychometric properties of the Spanish translated versions are not as strong as the English versions, the findings suggest that both the SWYC Milestones and ASQ-3 represent promising tools for identifying Hispanic children with developmental delays. The rate of delays were consistent with other studies showing a high percentage of Hispanic children with developmental delays, most frequently in language skills.

Why do children with severe bronchopulmonary dysplasia not attend neonatal follow-up care? Parental views of barriers.

AIM: To assess in children with severe bronchopulmonary dysplasia at a corrected age of 18-36 months: (i) Neonatal follow-up clinic attendance rates; (ii) Parent-identified reasons for difficulty attending neonatal follow-up. METHODS: Mixed methods study utilising semi-structured phone interviews with parents of infants eligible for follow-up with severe bronchopulmonary dysplasia (defined as gestational age <32 weeks and requiring ≥30% FiO2 and/or >2 L nasal cannula at 36 weeks post-menstrual age) at 18-36 months corrected age. Questions addressed barriers to neonatal follow-up attendance. Enrolment continued to saturation (no new themes emerging). RESULTS: A total of 58 infants (69% male) were enrolled. Infants were 26 ± 2.1 weeks gestational age and birth weight 794 ± 262 g. At 28 ± 5.8 months corrected age, 26% had never attended neonatal follow-up clinic, 16% stopped attending before discharge, 5% were discharged, and 53% were still followed. Longer travel distance from home to follow-up clinic was associated with poorer attendance. Parent-generated items related to neonatal follow-up barriers were coded into four themes: Logistics, Time, Perceptions and Emotional Stress. CONCLUSION: Despite high risk of developmental delay in infants with severe bronchopulmonary dysplasia, neonatal follow-up rates are suboptimal. Careful review of parent-identified barriers could be utilised to develop targeted strategies to improve neonatal follow-up attendance in this high-risk population.

Rate and Risk Factors Associated with Autism Spectrum Disorder in Congenital Diaphragmatic Hernia.

To determine the rate and predictors of autism spectrum disorder (ASD) in congenital diaphragmatic hernia (CDH). Between 06/2004 and 09/2015 a total of 110 CDH survivors underwent neurodevelopmental (ND) testing and screening for ASD, followed by a full autism diagnostic evaluation if indicated at our institution. We found a 9 time higher rate of ASD in CDH children compared to the general population (P = 0.0002). Multiple patient-related and clinical variables risk factors of ASD were identified by univariate analysis. However, only short-term and long-term neurodevelopmental delays were strongly associated with ASD in CDH by multivariate comparisons. There is a striking prevalence of ASD in CDH survivors and our findings suggest that all CDH children should be regularly screened for ASD.

Autosomal dominant mannose-binding lectin deficiency is associated with worse neurodevelopmental outcomes after cardiac surgery in infants.

OBJECTIVES: The MBL2 gene is the major genetic determinant of mannose-binding lectin (MBL)-an acute phase reactant. Low MBL levels have been associated with adverse outcomes in preterm infants. The MBL2Gly54Asp missense variant causes autosomal dominant MBL deficiency. We tested the hypothesis that MBL2Gly54Asp is associated with worse neurodevelopmental outcomes after cardiac surgery in neonates. METHODS: This is an analysis of a previously described cohort of patients with nonsyndromic congenital heart disease who underwent cardiac surgery with cardiopulmonary bypass before age 6 months (n = 295). Four-year neurodevelopment was assessed in 3 domains: Full-Scale Intellectual Quotient, the Visual Motor Integration development test, and the Child Behavior Checklist to assess behavior problems. The Child Behavior Checklist measured total behavior problems, pervasive developmental problems, and internalizing/externalizing problems. A multivariable linear regression model, adjusting for confounders, was fit. RESULTS: MBL2Gly54Asp was associated with a significantly increased covariate-adjusted pervasive developmental problem score (ß = 3.98; P = .0025). Sensitivity analyses of the interaction between age at first surgery and MBL genotype suggested effect modification for the patients with MBL2Gly54Asp (Pinteraction = .039), with the poorest neurodevelopment outcomes occurring in children who had surgery earlier in life. CONCLUSIONS: We report the novel finding that carriers of MBL2Gly54Asp causing autosomal dominant MBL deficiency have increased childhood pervasive developmental problems after cardiac surgery, independent of other covariates. Sensitivity analyses suggest that this effect may be larger in children who underwent surgery at earlier ages. These data support the role of nonsyndromic genetic variation in determining postsurgical neurodevelopment-related outcomes in children with congenital heart disease.