Early Newborn Metabolic Patterning and Sudden Infant Death Syndrome.

Importance: Sudden infant death syndrome (SIDS) is a major cause of infant death in the US. Previous research suggests that inborn errors of metabolism may contribute to SIDS, yet the relationship between SIDS and biomarkers of metabolism remains unclear.

Objective: To evaluate and model the association between routinely measured newborn metabolic markers and SIDS in combination with established risk factors for SIDS.

Development of negative and positive emotionality in irritable and nonirritable neonates.

Objective: The current study compares the development of negative and positive emotionality of irritable and nonirritable neonates.

Background: Research indicates that the first few months of life are marked by decreases in negative emotionality and increases in positive emotionality.

Methods: The Neonatal Behavioural Assessment Scale (NBAS) was administered twice to 111 neonates at 3 and 4 weeks of age to select a sample of irritable neonates and a comparison group of nonirritable neonates.

The intersection of genome, epigenome and social experience in autism spectrum disorder: Exploring modifiable pathways for intervention.

The number of children diagnosed with autism spectrum disorder (ASD) has increased substantially over the past two decades. Current research suggests that both genetic and environmental risk factors are involved in the etiology of ASD. The goal of this paper is to examine how one specific environmental factor, early social experience, may be correlated with DNA methylation (DNAm) changes in genes associated with ASD.

Parent mental health and child behavior during the COVID-19 pandemic.

Objective: Child behavior, which encompasses both internalizing and externalizing behaviors, is associated with many outcomes, including concurrent and future mental health, academic success, and social well-being. Thus, understanding sources of variability in child behavior is crucial for developing strategies aimed at equipping children with necessary resources. Parental mental health (PMH) difficulties and preterm birth may be risk factors for child behavior (CB) problems.

Latent class analysis to characterize neonatal risk for neurodevelopmental differences.

Background: Neonatal risk factors, such as preterm birth and low birth weight, have been robustly linked to neurodevelopmental deficits, yet it is still unclear why some infants born preterm and/or low birth weight experience neurodevelopmental difficulties while others do not. The current study investigated this heterogeneity in neurodevelopmental abilities by examining additional neonatal morbidities as risk factors, utilizing latent class analysis to classify neonates into groups based on similar neonatal risk factors, and including neonates from the full spectrum of gestational age.

Methods: Neonates who received neonatal care at an academic public hospital during an almost 10-year period (n = 19,951) were included in the latent class analysis, and 21 neonatal indicators of health were used.

Association between perinatal depression and risk of attention deficit hyperactivity disorder among children: a retrospective cohort study.

Purpose: Perinatal depression has previously been identified as a risk factor for attention deficit hyperactivity disorder (ADHD) in the offspring. Population-based studies utilizing diagnosis data are needed to better understand the relationship between these two variables. The objective of this study was to examine the association between perinatal depression and the risk of ADHD among children born during a 5 or-more-year follow-up period.

Neonatal Negative Emotionality and the Child Behavior Checklist-Dysregulation Profile (CBCL-DP) in middle childhood.

: Determine whether an association exists between neonatal negative emotionality and childhood emotional dysregulation. : The Child Behaviour Checklist-Dysregulation Profile (CBCL-DP) has been used as a measure of emotional dysregulation in childhood. Although there is now good evidence that the CBCL-DP predicts later psychopathology, little is known about what factors predict elevations on the CBCL-DP.

Telomere Length and ADHD Symptoms in Young Adults.

Previous research examining telomeres in individuals with neuropsychiatric disorders shows that greater illness, symptoms, or cognitive impairment are linked with shorter telomeres. However, the relationships of telomere length and neuropsychological processes or psychiatric symptoms are not understood in individuals with Attention Deficit/Hyperactivity Disorder (ADHD). : 390 young adults with and without ADHD completed a multi-informant diagnostic assessment and neuropsychological testing battery.

Genetic variants associated with patent ductus arteriosus in extremely preterm infants.

Objective: Patent ductus arteriosus (PDA) is a commonly observed condition in preterm infants. Prior studies have suggested a role for genetics in determining spontaneous ductal closure. Using samples from a large neonatal cohort we tested the hypothesis that common genetic variations are associated with PDA in extremely preterm infants.

Sluggish Cognitive Tempo Symptoms Contribute to Heterogeneity in Adult Attention-Deficit Hyperactivity Disorder.

Attention-deficit hyperactivity disorder (ADHD) persists into adulthood in over 50% of cases, although its associated symptom profiles, comorbid problems, and neuropsychological deficits change substantially across development. Sluggish cognitive tempo (SCT) symptoms may contribute to associations between ADHD and comorbid problems and may partially explain the substantial heterogeneity observed in its correlates. 349 adults aged 18-38 years (M = 23.

A Meta-Analysis of the Association Between Birth Weight and Attention Deficit Hyperactivity Disorder.

A large body of work has investigated the association between birth weight and ADHD and has resulted in mixed findings with regard to the direction and magnitude of this association. Despite the vast amount of research on this topic, a comprehensive and systematic quantification of the association between birth weight and ADHD has yet to be undertaken. A meta-analysis of 88 unique studies (N = 4,645,482) was conducted to quantify the overall effect size of birth weight on ADHD symptoms.

Genetic Associations with Gestational Duration and Spontaneous Preterm Birth.

Background: Despite evidence that genetic factors contribute to the duration of gestation and the risk of preterm birth, robust associations with genetic variants have not been identified. We used large data sets that included the gestational duration to determine possible genetic associations.

Methods: We performed a genomewide association study in a discovery set of samples obtained from 43,568 women of European ancestry using gestational duration as a continuous trait and term or preterm (<37 weeks) birth as a dichotomous outcome.

A meta-analytic review of the association between cortisol reactivity in response to a stressor and attention-deficit hyperactivity disorder.

A substantial literature suggests that abnormal cortisol reactivity may be a vulnerability for deleterious mental health outcomes, including ADHD. ADHD has been linked with difficulty in emotion regulation and increased risk of experiencing stressors, both of which may be related to psychobiological abnormalities (e.g.

Association of candidate gene polymorphisms with clinical subtypes of preterm birth in a Latin American population.

BackgroundPreterm birth (PTB) is the leading cause of neonatal mortality and morbidity. PTB is often classified according to clinical presentation as follows: idiopathic (PTB-I), preterm premature rupture of membranes (PTB-PPROM), and medically induced (PTB-M). The aim of this study was to evaluate the associations between specific candidate genes and clinical subtypes of PTB.

DRD4 Variants Moderate the Impact of Parental Characteristics on Child Attention-Deficit Hyperactivity Disorder: Exploratory Evidence from a Multiplex Family Design.

Parental ADHD symptomatology and related impairments have been robustly associated with youth ADHD across decades of work. Notably, these factors may impede typical development of child self-regulation capabilities through both neurobiological and interpersonal processes. High heritability of estimates for the disorder further suggest that these effects are likely genetically-mediated, at least in part.

Sex moderates the impact of birth weight on child externalizing psychopathology.

Low birth weight (LBW) has consistently been associated with childhood attention deficit/hyperactivity disorder (ADHD), and a similar association has been found for childhood externalizing disorders, such as oppositional defiant disorder (ODD) and conduct disorder (CD), albeit to a lesser degree. Although the association between LBW and these disorders has been robustly replicated, few studies have adequately controlled for confounding variables, such as parental age at birth and prenatal tobacco use, examined the specificity of the risk of LBW for ADHD symptoms, or investigated potential nonlinear (i.e.

Genetic Modifiers of Patent Ductus Arteriosus in Term Infants.

Objective: To identify single-nucleotide polymorphisms (SNPs) in specific candidate genes associated with patent ductus arteriosus in term infants.

Study Design: We conducted an initial family-based, candidate gene study to analyze genotype data from DNA samples obtained from 171 term infants and their parents enrolled in the National Birth Defects Prevention Study (NBDPS). We performed transmission disequilibrium testing (TDT) using a panel of 55 SNPs in 17 genes.

Polymorphisms in NR5A2, gene encoding liver receptor homolog-1 are associated with preterm birth.

Background: Preterm birth (PTB) is a major cause of neonatal mortality and morbidity. There is strong evidence of genetic susceptibility. Objective of this study was to identify genetic variants contributing to PTB.

Maternal and neonatal epidemiological features in clinical subtypes of preterm birth.

Objective: This study was designed to characterize and compare the maternal and newborn epidemiological characteristics through analysis of environmental factors, sociodemographic characteristics and clinical characteristics between the different clinical subtypes of preterm birth (PTB): Idiopathic (PTB-I), premature rupture of the membranes (PTB-PPROM) and medically indicated (PTB-M). The two subtypes PTB-I and PTB-PPROM grouped are called spontaneous preterm births (PTB-S).

Methods: A retrospective, observational study was conducted in 1.

Determining the prevalence of cytomegalovirus infection in a cohort of preterm infants.

Background: Preterm birth is a global public health problem that is a significant cause of infant morbidity and mortality. Congenital cytomegalovirus (CMV) infection has been proposed as a risk factor for preterm birth, but the rate of CMV in infants born preterm is unclear. CMV is the leading infectious cause of sensorineural hearing loss, which will affect 15% - 20% of congenitally infected infants later in their childhood.

Effects of Advancing Gestation and Non-Caucasian Race on Ductus Arteriosus Gene Expression.

Objective: To identify genes affected by advancing gestation and racial/ethnic origin in human ductus arteriosus (DA).

Study Design: We collected 3 sets of DA tissue (n = 93, n = 89, n = 91; total = 273 fetuses) from second trimester pregnancies. We examined four genes, with DNA polymorphisms that distribute along racial lines, to identify "Caucasian" and "non-Caucasian" DA.

Genetic variation in CYB5R3 is associated with methemoglobin levels in preterm infants receiving nitric oxide therapy.

Background: In recent years, increasing numbers of preterm infants have been exposed to inhaled nitric oxide (iNO). This population has decreased methemoglobin (MetHb) reductase activity in their erythrocytes, which may increase the risk of MetHb toxicity. We sought to determine if genetic factors are associated with the observed variance in MetHb levels.

Genetic variants associated with severe retinopathy of prematurity in extremely low birth weight infants.

Purpose: To determine genetic variants associated with severe retinopathy of prematurity (ROP) in a candidate gene cohort study of US preterm infants.

Methods: Preterm infants in the discovery cohort were enrolled through the Eunice Kennedy Shriver National Institute of Child Health and Human Development Neonatal Research Network, and those in the replication cohort were from the University of Iowa. All infants were phenotyped for ROP severity.

Metabolic heritability at birth: implications for chronic disease research.

Recent genome-wide association studies of the adult human metabolome have identified genetic variants associated with relative levels of several acylcarnitines, which are important clinical correlates for chronic conditions such as type 2 diabetes and obesity. We have previously shown that these same metabolite levels are highly heritable at birth; however, no studies to our knowledge have examined genetic associations with these metabolites measured at birth. Here, we examine, in 743 newborns, 58 single nucleotide polymorphisms (SNPs) in 11 candidate genes previously associated with differing relative levels of short-chain acylcarnitines in adults.

A Novel non-sense Mutation in Keratin 10 Causes a Familial Case of Recessive Epidermolytic Ichthyosis.

Epidermolytic ichthyosis (EI) is a rare skin disorder characterized by generalized erythroderma and cutaneous blistering at birth, which is substituted by hyperkeratosis later in life. It is caused by autosomal dominant mutations in highly conserved regions of and . To date, only 4 mutations with autosomal recessive inheritance of EI have been described in consanguineous families.