Maternal Autoantibody Reactivity, Gestational Inflammation, and Child Neurodevelopment (MARGIN)
The goal is to extend the aims of the IMPaCT study to interrogate additional gestational biomarkers - maternal autoantibodies (MA) - in pregnancy blood samples collected from mothers of 600 autism spectrum disorder, 2,000 developmental delay (DD), and 2,000 general…
More women, young adults being diagnosed with autism
A large analysis of autism spectrum disorder diagnoses over more than 10 years finds significant increases in young adults, women, and children in some racial or ethnic groups.
Do small effects matter more in vulnerable populations? an investigation using Environmental influences on Child Health Outcomes (ECHO) cohorts
A major challenge in epidemiology is knowing when an exposure effect is large enough to be clinically important, in particular how to interpret a difference in mean outcome in unexposed/exposed groups. Where it can be calculated, the proportion/percentage beyond a…
Commonly used genomic arrays may lose information due to imperfect coverage of discovered variants for autism spectrum disorder
Common genetic variation has been shown to account for a large proportion of ASD heritability. Polygenic scores generated for autism spectrum disorder (ASD-PGS) using the most recent discovery data, however, explain less variance than expected, despite reporting significant associations with…
Characterizing self-reported physical activity before and during a subsequent pregnancy among parents in a familial autism cohort
Parents of autistic children may have limited time and resources to participate in physical activity, a key aspect of health. Previous studies have been small and included mostly mothers, rather than fathers. No studies have examined physical activity in these…
Association of maternal fish consumption and ω-3 supplement use during pregnancy with child autism-related outcomes: results from a cohort consortium analysis
Prenatal fish intake is a key source of omega-3 (ω-3) polyunsaturated fatty acids needed for brain development, yet intake is generally low, and studies addressing associations with autism spectrum disorder (ASD) and related traits are lacking. This study aimed to…
Exposure to heavy metals in utero and autism spectrum disorder at age 3: a meta-analysis of two longitudinal cohorts of siblings of children with autism
Autism spectrum disorder (ASD) is a prevalent and heterogeneous neurodevelopmental disorder. Risk is attributed to genetic and prenatal environmental factors, though the environmental agents are incompletely characterized. In Early Autism Risk Longitudinal Investigation (EARLI) and Markers of Autism Risk in…
The association between prenatal oxidative stress levels measured by isoprostanes and offspring neurodevelopmental outcomes at 36 months
Oxidative stress during pregnancy has been a mechanistic pathway implicated in autism development, yet few studies have examined this association directly. Here, we examined the association of prenatal levels of 8-iso-PGF2α, a widely used measure of oxidative stress, and several…
Depressive symptoms and activity engagement in autistic adolescents and those with other developmental disabilities
Autistic adults and those with other developmental disabilities (DD) have increased depressive symptoms and decreased activity engagement when compared to those with no DD. Few studies explore activities related to depressive symptoms in autistic people and those with other DD…
Reproducibility between preschool and school-age Social Responsiveness Scale forms in the Environmental influences on Child Health Outcomes program
Evidence suggests core autism trait consistency in older children, but development of these traits is variable in early childhood. The Social Responsiveness Scale (SRS) measures autism-related traits and broader autism phenotype, with two age-dependent forms in childhood (preschool, 2.5-4.5 years; school…
Intrapartum exposure to synthetic oxytocin, maternal BMI, and neurodevelopmental outcomes in children within the ECHO consortium
Synthetic oxytocin (sOT) is frequently administered during parturition. Studies have raised concerns that fetal exposure to sOT may be associated with altered brain development and risk of neurodevelopmental disorders. In a large and diverse sample of children with data about…
Kaiser Permanente Autism Family Biobank
Kaiser Permanente Autism Family Biobank This project involves sending 3,751 DNA samples from the KP Autism Family Biobank to Mount Sinai School of Medicine to perform whole exome and whole genome sequencing. Funder: Mount Sinai School of Medicine
Differences in mid-gestational and early postnatal neonatal cytokines and chemokines are associated with patterns of maternal autoantibodies in the context of autism
Associations between maternal immune dysregulation (including autoimmunity and skewed cytokine/chemokine profiles) and offspring neurodevelopmental disorders such as autism have been reported. In maternal autoantibody-related autism, specific maternally derived autoantibodies can access the fetal compartment to target eight proteins critical for…
Health Care for Autistic Children: A Public Health Perspective
Autism has been the subject of large-scale public health investment. These investments are increasingly shifting toward mitigating the lifelong disability and impairment associated with autism. Key efforts include bolstering screening schedules, accelerating the path to diagnosis and early entry into…
Gestational thyroid hormones and autism-related traits in the EARLI and HOME studies
Thyroid hormones are essential for neurodevelopment. Few studies have considered associations with quantitatively measured autism spectrum disorder (ASD)-related traits, which may help elucidate associations for a broader population. Participants were drawn from two prospective pregnancy cohorts: the Early Autism Risk…
Barriers to Healthcare for Latinx Autistic Children and Adolescents
To understand the ways in which autistic Latinx children experience disparities in diagnosis, healthcare, and receipt of specialty services. 417 individuals who identified as Latinx caregivers of autistic children who were members of the same integrated healthcare system in Northern…
Reproductive Health Care in Adolescents with Autism and Other Developmental Disabilities
Adults with developmental disabilities often have less access to reproductive health services than adults without these disabilities. However, little is known about how adolescents with developmental disabilities, including autism, access reproductive health care. We aimed to characterize the utilization of…
Inflammatory Conditions During Pregnancy and Risk of Autism and Other Neurodevelopmental Disorders
Maternal inflammation can result from immune dysregulation and metabolic perturbations during pregnancy. Whether conditions associated with inflammation during pregnancy increase the likelihood of autism spectrum disorder (ASD) or other neurodevelopmental disorders (DDs) is not well understood. We conducted a case-control…
A mixture of urinary phthalate metabolite concentrations during pregnancy and offspring Social Responsiveness Scale (SRS) scores
Phthalates are a group of chemicals with ubiquitous exposure worldwide. Exposures to phthalates during pregnancy may play a role in autism spectrum disorder (ASD) etiology by disrupting hormone levels or directly impacting fetal neurodevelopment. However, there is little research quantifying…
Mixture of air pollution, brominated flame retardants, polychlorinated biphenyls, per- and polyfluoroalkyl substances, and organochlorine pesticides in relation to vitamin D concentrations in pregnancy
Over two-thirds of pregnant women in the U.S. have insufficient 25(OH)D (Vitamin D) concentrations, which can adversely impact fetal health. Several pollutants have been associated with 25(OH)D, but have not been considered in the context of chemical co-exposures. We aimed…
Associations of Organophosphate Ester Flame Retardant Exposures during Pregnancy with Gestational Duration and Fetal Growth: The Environmental influences on Child Health Outcomes (ECHO) Program
Widespread exposure to organophosphate ester (OPE) flame retardants with potential reproductive toxicity raises concern regarding the impacts of gestational exposure on birth outcomes. Previous studies of prenatal OPE exposure and birth outcomes had limited sample sizes, with inconclusive results. We…
Altered cytokine and chemokine profile linked to autoantibody and pathogen reactivity in mothers of autistic children
Maternal autoimmunity, and more specifically, the production of specific maternal autoantibodies, has been associated with altered offspring neurodevelopment. Maternal autoantibody-related (MAR) autism is a subtype of autism that is linked to gestational exposure to certain combinations of autoantibodies to proteins…
Exposure to air pollution is associated with DNA methylation changes in sperm
Exposure to air pollutants has been associated with adverse health outcomes in adults and children who were prenatally exposed. In addition to reducing exposure to air pollutants, it is important to identify their biologic targets in order to mitigate the…
Early Life Exposure to Endocrine Disrupting Chemicals and Child Growth, Adiposity, and Neurodevelopment
This is a 7-year renewal of our current ECHO Cohort Study Site Early Life Exposures and Child Growth, Adiposity, and Neurodevelopment. We plan to extend the capacity of the ECHO Cohort to further investigate the roles of endocrine disruptor chemicals…
Asthma, obesity during pregnancy linked to autism in children
Mothers with asthma or obesity during pregnancy had higher rates of children diagnosed with autism, according to a new Kaiser Permanente analysis.
Association between maternal prenatal cannabis use and missed child preventive care visits in an integrated health care delivery system in Northern California
The periodicity of well-child visits recommended by the American Academy of Pediatrics emphasizes the importance of continuity of care in health management. Exposure to cannabis in utero has been associated with adverse development, and adherence to well-child visits is critical…
Kaiser Permanente Division of Research receives $62M in federal funds to study children’s health
Kaiser Permanente Division of Research (DOR) investigators received a large infusion of federal funding to support research about environmental factors that influence children’s health.
Latent Class Analysis of Prenatal Substance Exposure and Child Behavioral Outcomes
To predict behavioral disruptions in middle childhood, we identified latent classes of prenatal substance use. As part of the Environmental influences on Child Health Outcomes Program, we harmonized prenatal substance use data and child behavior outcomes from 2195 women and…
Prenatal depression and risk of child autism-related traits among participants in the Environmental influences on Child Health Outcomes program
This study evaluated the association between prenatal depression and offspring autism-related traits. The sample comprised 33 prenatal/pediatric cohorts participating in the Environmental influences on Child Health Outcomes program who contributed information on prenatal depression and autism-related traits. Autism-related traits were…
Short report: Recommendations for education, clinical practice, research, and policy on promoting well-being in autistic youth and adults through a positive focus on sexuality and gender diversity
In this article, we propose recommendations on what we can do to promote that autistic people can enjoy their sexuality and gender identity, because that contributes to overall well-being.First, we briefly summarize the existing research on sexuality and gender diversity…
Autism-related traits more likely in children of mothers with prenatal depression
A Kaiser Permanente analysis of parents and their children in communities across the country finds a greater likelihood of autism-related traits in children of mothers who experienced depression while they were pregnant.
Sociodemographic Differences in COVID-19 Pandemic Experiences Among Families in the United States
Few population-based studies in the US collected individual-level data from families during the COVID-19 pandemic. To examine differences in COVID-19 pandemic-related experiences in a large sociodemographically diverse sample of children and caregivers. The Environmental influences on Child Health Outcomes (ECHO)…
Examining Prenatal Dietary Factors in Association with Child Autism-Related Traits Using a Bayesian Mixture Approach: Results from 2 United States Cohorts
Prior work has suggested relationships between prenatal intake of certain nutrients and autism. We examined a broad set of prenatal nutrients and foods using a Bayesian modeling approach. Participants were drawn from the Early Autism Risks Longitudinal Investigation (n =…
Prenatal ultrasound use and risk of autism spectrum disorder: Findings from the case-control Study to Explore Early Development
Studies evaluating the association between prenatal ultrasounds and autism spectrum disorder (ASD) have largely produced negative results. Concern remains due to the rising identification of children with ASD and ultrasound use. To evaluate the association between prenatal ultrasound use and…
Updates to the Autism Intervention Research Network on Physical Health (AIR-P) Research Agenda
Autistic individuals, now representing one in 36 individuals in the U.S., experience disproportionate physical health challenges relative to non-autistic individuals. The Health Resources and Services Administration's (HRSA) Autism Intervention Research Network on Physical Health (AIR-P) is an interdisciplinary, multi-center Research…
Moderna Cytomegalovirus Child Hearing and Autism Study (MOCCHA)
Human cytomegalovirus (CMV) is the most common infection acquired before birth. In the US, about 1 of every 150 to 200 infants (0.5%-0.67%) are born with congenital CMV (cCMV). About 1 in 5 infants with cCMV infection will experience long-term…
A Comparative Analysis of the Full and Short Versions of the Social Responsiveness Scale in Estimating an Established Autism Risk Factor Association in ECHO: Do we Get the Same Estimates?
Prior work developed a shortened 16-item version of the Social Responsiveness Scale (SRS), a quantitative measure of social communication and autism spectrum disorder (ASD)-related traits. However, its properties for use in risk factor estimation have not been fully tested compared…
The influence of loss to follow-up in autism screening research: Taking stock and moving forward
How best to improve the early detection of autism spectrum disorder (ASD) is the subject of significant controversy. Some argue that universal ASD screeners are highly accurate, whereas others argue that evidence for this claim is insufficient. Relatedly, there is…
Associations of prenatal exposure to a mixture of persistent organic pollutants with social traits and cognitive and adaptive function in early childhood: Findings from the EARLI study
Literature suggests that maternal exposure to persistent organic pollutants (POPs) may influence child neurodevelopment. Evidence linking prenatal POPs and autism spectrum disorder has been inconclusive and few studies have examined the mixture effect of the POPs on autism-related traits. To…
Developing a National-Scale Exposure Index for Combined Environmental Hazards and Social Stressors and Applications to the Environmental Influences on Child Health Outcomes (ECHO) Cohort
Tools for assessing multiple exposures across several domains (e.g., physical, chemical, and social) are of growing importance in social and environmental epidemiology because of their value in uncovering disparities and their impact on health outcomes. Here we describe work done…
Neonatal immune signatures differ by sex regardless of neurodevelopmental disorder status: Macrophage migration inhibitory factor (MIF) alone reveals a sex by diagnosis interaction effect
Immune dysregulation, including aberrant peripheral cytokine/chemokine levels, is implicated in neurodevelopmental disorders (NDD) such as autism spectrum disorder (ASD). While the diagnosis of ASD is more common in males compared to females, sex effects in immune dysregulation related to neurodevelopment…
Health conditions in autism: Defining the trajectory from adolescence to early adulthood
Autistic adults, as compared to non-autistic adults, have increased rates of nearly all medical and psychiatric conditions. Many of these conditions begin in childhood, although few longitudinal studies have been conducted to examine prevalence rates of these conditions from adolescence…
Prenatal exposure to per- and polyfluoroalkyl substances and childhood autism-related outcomes
Epidemiologic evidence linking prenatal exposure to per- and polyfluoroalkyl substances (PFAS) with altered neurodevelopment is inconclusive, and few large studies have focused on autism-related outcomes. We investigated whether blood concentrations of PFAS in pregnancy are associated with child autism-related outcomes…
Opportunities for Inclusion and Engagement in the Transition of Autistic Youth from Pediatric to Adult Healthcare: A Qualitative Study
Transitioning autistic youth from pediatric to adult healthcare requires coordination of multiple stakeholders, including youth, caregivers, and pediatric and adult care providers, whose interests at times overlap but often differ. To understand barriers and facilitators to inclusive transition experiences, we…
Prepregnancy BMI, gestational weight gain, and susceptibility to autism-related traits: the EARLI and HOME studies
Excessive gestational weight gain (GWG) has been associated with autism spectrum disorder (ASD). This study sought to examine whether familial susceptibility for autism, intensity of ASD-related behaviors, or prepregnancy BMI influences the association of GWG with ASD-related behaviors. Using data…
GEARs Combining advances in Genomics and Environmental science to accelerate Actionable Research and practice in ASD
The Autism Centers of Excellence (ACE) program is a trans-NIH initiative that supports large-scale studies on autism spectrum disorder. A priority area for the ACE program is work that will advance our understanding of the biologic mechanisms underlying gene-environment interplay…
Epigenetic changes in sperm are associated with paternal and child quantitative autistic traits in an autism-enriched cohort
There is a need to consider paternal contributions to autism spectrum disorder (ASD) more strongly. Autism etiology is complex, and heritability is not explained by genetics alone. Understanding paternal gametic epigenetic contributions to autism could help fill this knowledge gap…
Assessment of Psychosocial and Neonatal Risk Factors for Trajectories of Behavioral Dysregulation Among Young Children From 18 to 72 Months of Age
Emotional and behavioral dysregulation during early childhood are associated with severe psychiatric, behavioral, and cognitive disorders through adulthood. Identifying the earliest antecedents of persisting emotional and behavioral dysregulation can inform risk detection practices and targeted interventions to promote adaptive developmental…
Prenatal Antidepressant Exposures and Autism Spectrum Disorder or Traits: A Retrospective, Multi-Cohort Study
Prenatal antidepressant exposure has been associated with increased risk for neurodevelopmental disorders in childhood, including autism spectrum disorder (ASD). The current study utilized multi-cohort data from the Environmental influences on Child Health Outcomes (ECHO) program (N = 3129) to test for this…
The Environmental influences on Child Health Outcomes (ECHO)-wide Cohort
The Environmental influences on Child Health Outcomes (ECHO)-wide Cohort Study (EWC), a collaborative research design comprising 69 cohorts in 31 consortia, was funded by the National Institutes of Health (NIH) in 2016 to improve children's health in the United States…
Modifying the social responsiveness scale for adaptive administration
The social responsiveness scale (SRS) is frequently used to quantify the autism-related phenotype and is gaining use in health outcomes research. However, it has a high respondent burden (65 items) for large-scale studies. Further, most evaluations of it have focused…
A framework for measuring the cost to families of caring for children’s health: the design, methodology, and study population of the r-Kids study
All families experience financial and time costs related to caring for their children's health. Understanding the economic burden faced by families of children with chronic health conditions (CHC) is crucial for designing effective policies to support families. In this prospective…
Prenatal medication exposure in autism, birth complications and developmental disabilities
Systematically investigate the effects of maternal medication use in pregnancy on offspring autism spectrum disorder (ASD) risk. Test the mechanisms underlying the associations between maternal medication use and ASD. Establish the specificity and generalizability of maternal medication effects on ASD.
The impact of autism spectrum disorder on parent employment: Results from the r-Kids study
Parents of children with autism spectrum disorder (ASD) and other chronic health conditions often face exceptional caregiving demands that can lead to challenges related to maintaining and succeeding in employment. Detailed information on the specific ways in which these health…
Accuracy of diagnostic codes for prenatal opioid exposure and neonatal opioid withdrawal syndrome
Determine the accuracy of diagnostic codes in identifying Prenatal Opioid Exposure (POE) and Neonatal Opioid Withdrawal Syndrome (NOWS). A cross-sectional study of 374,222 mother-infant dyads with delivery from 01/01/2010 to 12/31/2019. We ascertained maternal diagnostic codes for opioid use during…
Study finds little evidence of link between autistic traits and PFAS environmental chemicals
A Kaiser Permanente analysis of prenatal exposure to the persistent environmental chemicals known as PFAS found suggestive evidence of an association with autism-related traits in children for just 1 of 8 PFAS chemicals studied.
Effects of COVID-19 Financial and Social Hardships on Infants’ and Toddlers’ Development in the ECHO Program
The financial hardships and social isolation experienced during the COVID-19 pandemic have been found to adversely affect children's developmental outcomes. While many studies thus far have focused on school-aged children and the pandemic-related impacts on their academic skills and behavior…
Perinatal Anesthesia Exposure and Autism Spectrum Disorders
Epidural analgesia is frequently used during labor among pregnant people in the United States. Different factors have been associated with the development of autism spectrum disorder in the epidemiological literature: maternal health, infectious and pharmacological etiologies, social factors, and environmental…
Examining shortened versions of the Social Responsiveness Scale for use in autism spectrum disorder prediction and as a quantitative trait measure: Results from a validation study of 3-5 year old children
The Social Responsiveness Scale (SRS) is a 65-item measure yielding a continuous score capturing autism-related traits. Scores based on SRS item subsets have been analytically examined but administration of shortened versions has not been evaluated prospectively. The goal of this…
Racial/Ethnic Differences in Psychiatric and Medical Diagnoses Among Autistic Adults
Racial/ethnic disparities in access to diagnostic services are pervasive for autistic children. However, a few studies have examined racial/ethnic health disparities among autistic adults, who commonly experience higher rates of health conditions than non-autistic adults. We aimed at examining the…
Associations between accelerated parental biologic age, autism spectrum disorder, social traits, and developmental and cognitive outcomes in their children
Parental age is a known risk factor for autism spectrum disorder (ASD), however, studies to identify the biologic changes underpinning this association are limited. In recent years, "epigenetic clock" algorithms have been developed to estimate biologic age and to evaluate…
SEED Follow-Up Study
SEED is a case-control study comparing children aged 2-5 years with autism spectrum disorder to children with other developmental disabilities. The SEED Follow-up Study is a longitudinal study designed to improve understanding of risk factors and expression of autism spectrum…
Peri-Pregnancy Cannabis Use and Autism Spectrum Disorder in the Offspring: Findings from the Study to Explore Early Development
The association of autism spectrum disorder (ASD) with self-reported maternal cannabis use from 3 months pre-conception to delivery ("peri-pregnancy") was assessed in children aged 30-68 months, born 2003 to 2011. Children with ASD (N = 1428) were compared to children with other developmental delays/disorders…
Maternal autoantibody profiles as biomarkers for ASD and ASD with co-occurring intellectual disability
Maternal autoantibody-related ASD (MAR ASD) is a subtype of autism in which pathogenic maternal autoantibodies (IgG) cross the placenta, access the developing brain, and cause neurodevelopmental alterations and behaviors associated with autism in the exposed offspring. We previously reported maternal…
Prenatal vitamin intake in first month of pregnancy and DNA methylation in cord blood and placenta in two prospective cohorts
Prenatal vitamin use is recommended before and during pregnancies for normal fetal development. Prenatal vitamins do not have a standard formulation, but many contain calcium, folic acid, iodine, iron, omega-3 fatty acids, zinc, and vitamins A, B6, B12, and D,…
Cardiometabolic Pregnancy Complications in Association with Autism-Related Traits as Measured by the Social Responsiveness Scale in ECHO
Prior work has examined associations between cardiometabolic pregnancy complications and autism spectrum disorder (ASD) but not how these complications may relate to social communication traits more broadly. We addressed this question within the Environmental Influences on Child Health Outcomes program,…
Coping strategies for COVID-19 pandemic-related stress and mental health during pregnancy
Increased stress has likely contributed to the observed high prevalence of depression and anxiety in pregnant individuals during the COVID-19 pandemic. The objective of this study was to assess the prevalence of coping strategies for COVID-19 pandemic-related stress and associations…
Associations between combined exposure to environmental hazards and social stressors at the neighborhood level and individual perinatal outcomes in the ECHO-wide cohort
Limited studies examine how prenatal environmental and social exposures jointly impact perinatal health. Here we investigated relationships between a neighborhood-level combined exposure (CE) index assessed during pregnancy and perinatal outcomes, including birthweight, gestational age, and preterm birth. Across all participants,…
Maternal Dietary Patterns during Pregnancy and Child Autism-Related Traits: Results from Two US Cohorts
We examined the relationship between maternal intake of established dietary patterns and child autism-related outcomes in two prospective cohorts in the United States. Participants were drawn from the Early Autism Risk Longitudinal Investigation (EARLI, n = 154) and the Nurses'…
Placental morphology in association with autism-related traits in the EARLI study
In prior work we observed differences in morphology features in placentas from an autism-enriched cohort as compared to those from a general population sample. Here we sought to examine whether these differences associate with ASD-related outcomes in the child. Participants…
Examining associations between prenatal biomarkers of oxidative stress and ASD-related outcomes using quantile regression
We examined associations between prenatal oxidative stress (OS) and child autism-related outcomes. Women with an autistic child were followed through a subsequent pregnancy and that younger sibling's childhood. Associations between glutathione (GSH), glutathione disulfide (GSSG), 8-oxo-deoxyguanine (8-OHdG), and nitrotyrosine and…
The Association of Prenatal Vitamins and Folic Acid Supplement Intake with Odds of Autism Spectrum Disorder in a High-Risk Sibling Cohort, the Early Autism Risk Longitudinal Investigation (EARLI)
We examined maternal prenatal vitamin use or supplemental folic acid intake during month one of pregnancy for association with autism spectrum disorder (ASD) in the Early Autism Risk Longitudinal Investigation, an enriched-risk pregnancy cohort. Total folic acid intake was calculated…
Prenatal exposure to pesticide residues in the diet in association with child autism-related traits: Results from the EARLI study
Prior work has suggested associations between prenatal exposure to several classes of pesticides and child autism spectrum disorder (ASD). We examined a previously developed pesticide residue burden score (PRBS) and intake of high pesticide residue foods in association with ASD-related…
Autistic people join autism project – as research partners
A group of Kaiser Permanente investigators is inviting their study subjects — autistic people — to participate as research partners, providing their own unique perspective on being autistic. Their initial focus is on gender, sexuality, and reproductive health in autism, but once trained, the advisers could help shape any future research project.
The Autism Intervention Research Network on Physical Health (AIR-P) Research Agenda
In the United States, autistic individuals experience disproportionate physical and mental health challenges relative to non-autistic individuals, including higher rates of co-occurring and chronic conditions and lower physical, social, and psychological health-related quality of life. The Autism Intervention Research Network…
Youth Well-being During the COVID-19 Pandemic
The family stress model proposes economic hardship results in caregiver distress and relational problems, which negatively impact youth outcomes. We extend this model to evaluate the impact of coronavirus disease 2019 pandemic-related family hardships on caregiver and youth stress, and,…
Emotional and Behavioral Problems in Youth with Autism: High Prevalence and Impact on Functioning
Emotional and behavioral problems (EBPs) may co-occur with autism spectrum disorder (ASD) and impair children's functioning beyond autism symptomatology. We compared the prevalence of EBPs in youths with or without ASD and evaluated their unique contribution to impairment in ASD…
Maternal tobacco smoking and offspring autism spectrum disorder or traits in ECHO cohorts
Given inconsistent evidence on preconception or prenatal tobacco use and offspring autism spectrum disorder (ASD), this study assessed associations of maternal smoking with ASD and ASD-related traits. Among 72 cohorts in the Environmental Influences on Child Health Outcomes consortium, 11…
Maternal blood metal concentrations and whole blood DNA methylation during pregnancy in the Early Autism Risk Longitudinal Investigation (EARLI)
The maternal epigenome may be responsive to prenatal metals exposures. We tested whether metals are associated with concurrent differential maternal whole blood DNA methylation. In the Early Autism Risk Longitudinal Investigation cohort, we measured first or second trimester maternal blood…
Harnessing Electronic Health Records to Identify Participants and to Study Health Outcomes in Transition-Age Youth and Adults with Autism Spectrum Disorder
The goal of this K18 award is to determine changes in prevalence of common medical and psychiatric conditions and measures of health care utilization in an existing longitudinal cohort of autistic transition age youth (TAY) and adults within the Kaiser…
Prenatal Exposure to Ambient Air Pollution and Epigenetic Aging at Birth in Newborns
In utero air pollution exposure has been associated with adverse birth outcomes, yet effects of air pollutants on regulatory mechanisms in fetal growth and critical windows of vulnerability during pregnancy are not well understood. There is evidence that epigenetic alterations…
Associations of COVID-19-Related Health, Healthcare and Economic Factors With Prenatal Depression and Anxiety
Objective: This study evaluated whether COVID-19 pandemic-related health, healthcare and economic factors during pregnancy are associated with prenatal depression and anxiety. Methods: We conducted a cross-sectional study of 6,628 pregnant members of Kaiser Permanente Northern California who responded to a…
Contributions of COVID-19 Pandemic-Related Stressors to Racial and Ethnic Disparities in Mental Health During Pregnancy
This study aimed to identify racial and ethnic disparities in prenatal mental health and identify COVID-19 pandemic-related health/healthcare and economic contributors to these disparities, using an established framework for disparity investigation. This cross-sectional study includes 10,930 pregnant people at Kaiser…
Tooth biomarkers to characterize the temporal dynamics of the fetal and early-life exposome
Teeth have unique histology that make this biomatrix a time-capsule for retrospective exposure analysis of fetal and early life. However, most analytic methods require pulverizing the whole tooth, which eliminates exposure timing information. Further, the range of chemicals and endogenous…
Gastrointestinal Symptoms in 2- to 5-Year-Old Children in the Study to Explore Early Development
Gastrointestinal symptoms (GIS) are commonly reported in children with autism spectrum disorder (ASD). This multi-site study evaluated the prevalence of GIS in preschool-aged children with ASD/(n = 672), with other developmental delays (DD)/(n = 938), and children in the general population (POP)/(n = 851). After adjusting…
Kaiser Permanente researchers study pandemic pregnancies
Kaiser Permanente researchers are surveying pregnant women during the pandemic and the first findings from the survey show a low percentage of COVID-19 infections, with higher prevalence among younger women, Hispanic women, and those living in neighborhoods with greater economic deprivation.
Maternal prepregnancy weight and gestational weight gain in association with autism and developmental disorders in offspring
Maternal prepregnancy BMI and gestational weight gain (GWG) are examined in relation to autism spectrum disorder (ASD) and other developmental disorders (DD) in offspring in a multisite case-control study. Maternal prepregnancy BMI, obtained from medical records or self-report, was categorized…
Maternal Psychiatric Conditions, Treatment With Selective Serotonin Reuptake Inhibitors, and Neurodevelopmental Disorders
This study aims to clarify relationships of maternal psychiatric conditions and selective serotonin reuptake inhibitor (SSRI) use during preconception and pregnancy with risk of neurodevelopmental disorders in offspring. We used data from the Study to Explore Early Development, a multisite…
Distributional Properties and Criterion Validity of a Shortened Version of the Social Responsiveness Scale: Results from the ECHO Program and Implications for Social Communication Research
Prior work proposed a shortened version of the Social Responsiveness Scale (SRS), a commonly used quantitative measure of social communication traits. We used data from 3031 participants (including 190 ASD cases) from the Environmental Influences on Child Health Outcomes (ECHO)…
Study finds no link between autism and common antidepressant when used in pregnancy
Mothers with psychiatric conditions such as depression and anxiety were more likely to have a child with autism than mothers without such conditions, new research led by Kaiser Permanente investigators finds. But the analysis found no association between use of common antidepressants by pregnant women and likelihood of autism in their children.
Lisa Croen named a fellow of the International Society for Autism Research
Lisa A. Croen, PhD, director of the Kaiser Permanente Autism Research Program, was named a fellow of the International Society for Autism Research (INSAR) during the society’s annual meeting May 7.
Maternal Health in Pregnancy and Autism Risk – Genetic and Non-genetic Mechanisms
This study will systematically identify maternal diagnoses in pregnancy associated with autism spectrum disorder (ASD) in offspring; test if the association between maternal diagnoses and ASD is due to shared genetic factors using family data; and test the association between…
Autism Specific Patterns of DNA Methylation from Birth to Age 5
This study will examine potential differences in DNA methylation (DNAm) in early life, from birth through age 5, between children who are ultimately diagnosed with autism spectrum disorder and those typically developing. Results from this work will inform whether a…
Autism Intervention Research Network on Physical Health
Establish an interdisciplinary Autism Intervention Research Network on Physical Health node that will lead, promote, and coordinate national research activities to improve the physical health and well-being of individuals with autism spectrum disorder across the lifespan, including children and adolescents…
Evaluation of sex differences in preschool children with and without autism spectrum disorder enrolled in the study to explore early development
Research in school-aged children, adolescents, and adults with autism spectrum disorder (ASD) has found sex-based differences in behavioral, developmental, and diagnostic outcomes. These findings have not been consistently replicated in preschool-aged children. We examined sex-based differences in a large sample…
Prenatal Air Pollution Exposure and Neurodevelopment: A Review and Blueprint for a Harmonized Approach within ECHO
Air pollution exposure is ubiquitous with demonstrated effects on morbidity and mortality. A growing literature suggests that prenatal air pollution exposure impacts neurodevelopment. We posit that the Environmental influences on Child Health Outcomes (ECHO) program will provide unique opportunities to…
Gender, sexuality in autism a largely unexplored area of research
The Autism Research Program at the Kaiser Permanente Division of Research is pursuing a new project to identify gaps in knowledge about gender, sexuality, and reproductive health among autistic people. Our KP Research Radio podcast explores the issue.
Development and psychometric testing of the AASPIRE Adult Autism Healthcare Provider Self-Efficacy Scale
The adult healthcare system is ill-prepared to provide high-quality care to autistic adults. Lack of provider training may contribute to the problem, but there are few previously tested survey instruments to guide provider training efforts. Our objective was to develop…
Psychometric testing of a set of patient-reported instruments to assess healthcare interventions for autistic adults
Interventions to improve healthcare for autistic adults are greatly needed. To evaluate such interventions, researchers often use surveys to collect data from autistic adults (or sometimes, their supporters), but few survey measures have been tested for use with autistic adults…
Healthcare service utilization and cost among transition-age youth with autism spectrum disorder and other special healthcare needs
Youth with autism spectrum disorder often have complex medical needs. Disruptions of healthcare during the transition from pediatric to adult healthcare may put youth with autism spectrum disorder at higher risk of medical emergencies and high medical costs. To understand…
Transitioning youth with autism spectrum disorders and other special health care needs into adult primary care: A provider survey
The transition from pediatric to adult care is a critical inflection point for the long-term health of youth with autism spectrum disorders and other special health care needs. However, for many patients, their caregivers, and providers, the transition lacks coordination…
Maternal health around pregnancy and autism risk: a diagnosis-wide, population-based study
Many studies have reported an increased risk of autism spectrum disorder (ASD) associated with some maternal diagnoses in pregnancy. However, such associations have not been studied systematically, accounting for comorbidity between maternal disorders. Therefore our aim was to comprehensively test…
A profile and review of findings from the Early Markers for Autism study: unique contributions from a population-based case-control study in California
The Early Markers for Autism (EMA) study is a population-based case-control study designed to learn more about early biologic processes involved in ASD. Participants were drawn from Southern California births from 2000 to 2003 with archived prenatal and neonatal screening…
Bayesian Weighted Sums: A Flexible Approach to Estimate Summed Mixture Effects
Methods exist to study exposure mixtures, but each is distinct in the research question it aims to address. We propose a new approach focused on estimating both the summed effect and individual weights of one or multiple exposure mixtures: Bayesian…
The Association Between Maternal Prenatal Fish Intake and Child Autism-Related Traits in the EARLI and HOME Studies
We examined the association between prenatal fish intake and child autism-related traits according to Social Responsiveness Scale (SRS) and cognitive development scores in two US prospective pregnancy cohorts. In adjusted linear regression analyses, higher maternal fish intake in the second…
Gestational Exposure to Phthalates and Social Responsiveness Scores in Children Using Quantile Regression: The EARLI and HOME Studies
Linear regression is often used to estimate associations between chemical exposures and neurodevelopment at the mean of the outcome. However, the potential effect of chemicals may be greater among individuals at the 'tails' of outcome distributions. Here, we investigated distributional…
Autism-Associated DNA Methylation at Birth From Multiple Tissues Is Enriched for Autism Genes in the Early Autism Risk Longitudinal Investigation
Background: Pregnancy measures of DNA methylation, an epigenetic mark, may be associated with autism spectrum disorder (ASD) development in children. Few ASD studies have considered prospective designs with DNA methylation measured in multiple tissues and tested overlap with ASD genetic…
COVID-19 prevalence, symptoms, and sociodemographic disparities in infection among insured pregnant women in Northern California
Research on COVID-19 during pregnancy has mainly focused on women hospitalized for COVID-19 or other reasons during their pregnancy. Little is known about COVID-19 in the general population of pregnant women. To describe the prevalence of COVID-19, symptoms, consequent healthcare…
Association between self-reported caffeine intake during pregnancy and social responsiveness scores in childhood: The EARLI and HOME studies
Maternal nutrition during gestation has been investigated for its role in child neurodevelopment. However, little is known about the potential impact of gestational caffeine exposure on child autistic behaviors. Here, we assess the relation between maternal caffeine intake during pregnancy…
Maternal immune response and air pollution exposure during pregnancy: insights from the Early Markers for Autism (EMA) study
Perinatal exposure to air pollution and immune system dysregulation are two factors consistently associated with autism spectrum disorders (ASD) and other neurodevelopmental outcomes. However, little is known about how air pollution may influence maternal immune function during pregnancy. To assess…
Prenatal Multivitamin Use and MTHFR Genotype Are Associated with Newborn Cord Blood DNA Methylation
Fetal development involves cellular differentiation and epigenetic changes-complex processes that are sensitive to environmental factors. Maternal nutrient levels during pregnancy affect development, and methylene tetrahydrofolate reductase (MTHFR) is important for processing the nutrient folate. We hypothesize that supplement intake before…
Maternal Vitamin D Levels During Pregnancy in Association With Autism Spectrum Disorders (ASD) or Intellectual Disability (ID) in Offspring; Exploring Non-linear Patterns and Demographic Sub-groups
Increasing vitamin D deficiency and evidence for vitamin D's role in brain and immune function have recently led to studies of neurodevelopment; however, few are specific to autism spectrum disorder (ASD) and vitamin D in pregnancy, a likely susceptibility period…
Meconium androgens are correlated with ASD-related phenotypic traits in early childhood in a familial enriched risk cohort
Prenatal exposure to increased androgens has been suggested as a risk factor for autism spectrum disorder (ASD). This hypothesis has been examined by measurement of steroids in amniotic fluid, cord blood, saliva, and blood with mixed results. To provide an…
Cord blood DNA methylome in newborns later diagnosed with autism spectrum disorder reflects early dysregulation of neurodevelopmental and X-linked genes
Autism spectrum disorder (ASD) is a neurodevelopmental disorder with complex heritability and higher prevalence in males. The neonatal epigenome has the potential to reflect past interactions between genetic and environmental factors during early development and influence future health outcomes. We…
COVID-19 Response Grant
Adults with intellectual or developmental disabilities may be especially impacted by the ways the COVID-19 pandemic has led to drastic changes in usual daily routines and the way healthcare encounters have been transitioned to virtual (video, telephone) visits. This project…
Clinicians need to build bridges to transition care for young adults with autism
Young people with autism use more health care services and need assistance transitioning from pediatric to adult medical care, according to 2 new studies by researchers with the Kaiser Permanente Division of Research.
The Association Between Parental Age and Autism-Related Outcomes in Children at High Familial Risk for Autism
Advanced parental age is a well-replicated risk factor for autism spectrum disorder (ASD), a neurodevelopmental condition with a complex and not well-defined etiology. We sought to determine parental age associations with ASD-related outcomes in subjects at high familial risk for…
Genetic Contributions to Maternal and Neonatal Vitamin D Levels
Vitamin D is essential for several physiological functions and biological processes. Increasing levels of maternal vitamin D are required throughout pregnancy as a unique source of vitamin D for the fetus, and consequently maternal vitamin D deficiency may result in…
Neonatal Thyroid Stimulating Hormone and Subsequent Diagnosis of Autism Spectrum Disorders and Intellectual Disability
Hypothyroid conditions in early life, if left untreated, are associated with adverse neurodevelopmental outcomes, including intellectual disability (ID). However, evidence addressing the role of neonatal thyroid hormone insufficiencies in the altered neurobiology underlying autism spectrum disorders (ASD), particularly among its…
Neonatal jaundice in association with autism spectrum disorder and developmental disorder
To examine the association between neonatal jaundice and autism spectrum disorder (ASD) and non-ASD developmental disorder (DD). We analyzed data from the Study to Explore Early Development, a US multisite, case-control study conducted from 2007 to 2011. Developmental assessment classified…
Factors Influencing Participation in Biospecimen Research among Parents of Youth with Mental Health Conditions
Biospecimens are tools that have the potential to improve early identification and treatment for autism spectrum disorders (ASD) and bipolar disorders (BPD). Unfortunately, most biobanks lack racial/ethnic diversity. One challenge to including a diverse sample of youth is recruiting and…
Early Life Exposure to Air Pollution and Autism Spectrum Disorder: Findings from a Multisite Case-Control Study
Epidemiologic studies have reported associations between prenatal and early postnatal air pollution exposure and autism spectrum disorder (ASD); however, findings differ by pollutant and developmental window. We examined associations between early life exposure to particulate matter ≤2.5 µm in diameter…
Community-based service use in preschool children with autism spectrum disorder and associations with insurance status
ASD-related services can improve outcomes for children, but less is known about service outside of school settings during preschool age. We aimed to describe amount and category of community-based service use among 3-5-year-old children with ASD and examine differences by…
Air pollution, neighborhood deprivation, and autism spectrum disorder in the Study to Explore Early Development
To examine whether neighborhood deprivation modifies the association between early life air pollution exposure and autism spectrum disorder (ASD), we used resources from a multisite case-control study, the Study to Explore Early Development. Cases were 674 children with confirmed ASD…
Infection and Fever in Pregnancy and Autism Spectrum Disorders: Findings from the Study to Explore Early Development
Maternal infection and fever during pregnancy have been implicated in the etiology of autism spectrum disorder (ASD); however, studies have not been able to separate the effects of fever itself from the impact of a specific infectious organism on the…
Prenatal Opioid Exposure: Neurodevelopmental Consequences and Future Research Priorities
Neonatal opioid withdrawal syndrome (NOWS) has risen in prevalence from 1.2 per 1000 births in 2000 to 5.8 per 1000 births in 2012. Symptoms in neonates may include high-pitched cry, tremors, feeding difficulty, hypertonia, watery stools, and breathing problems. However,…
An Exploratory Examination of Neonatal Cytokines and Chemokines as Predictors of Autism Risk: The Early Markers for Autism Study
The identification of an early biomarker for autism spectrum disorder (ASD) would improve the determination of risk, leading to earlier diagnosis and, potentially, earlier intervention and improved outcomes. Data were generated from the Early Markers for Autism study, a population-based…
Maternal diabetes and hypertensive disorders in association with autism spectrum disorder
Previous studies have shown complications of pregnancy, often examined in aggregate, to be associated with autism spectrum disorder (ASD). Results for specific complications, such as maternal diabetes and hypertension, have not been uniformly consistent and should be investigated independently in…
Newborn vitamin D levels in relation to autism spectrum disorders and intellectual disability: A case-control study in california
Vitamin D deficiency has been increasing concurrently with prevalence of autism spectrum disorders (ASD), and emerging evidence suggests vitamin D is involved in brain development. Most prior studies of ASD examined vitamin D levels in children already diagnosed, but a…
Epigenetic marks of prenatal air pollution exposure found in multiple tissues relevant for child health
Prenatal air pollution exposure has been linked to many adverse health conditions in the offspring. However, little is known about the mechanisms underlying these associations. Epigenetics may be one plausible biologic link. Here, we sought to identify site-specific and global…
Prenatal exposure to endocrine disrupting chemicals in relation to autism spectrum disorder and intellectual disability
Exposure to endocrine disruptors is unavoidable. Many such compounds are suspected to impact neurologic development of children, but most studies conducted have considered effects of individual chemicals in isolation. Because exposures co-occur, it is important to consider their health impacts…
Meta-analysis of epigenome-wide association studies in neonates reveals widespread differential DNA methylation associated with birthweight
Birthweight is associated with health outcomes across the life course, DNA methylation may be an underlying mechanism. In this meta-analysis of epigenome-wide association studies of 8,825 neonates from 24 birth cohorts in the Pregnancy And Childhood Epigenetics Consortium, we find…
Health Care Service Utilization and Cost Among Adults with Autism Spectrum Disorders in a U.S. Integrated Health Care System
To compare health care utilization patterns and cost among insured adults with autism spectrum disorder (ASD), adults with attention-deficit and hyperactivity disorder (ADHD), and adults with neither condition (general population [GP] controls). We conducted a case-control study among adults (≥18…
Maternal Pre-pregnancy Body Mass Index and Gestational Weight Gain in Relation to Autism Spectrum Disorder and other Developmental Disorders in Offspring
Most prior studies examining maternal pre-pregnancy body mass index (BMI) in relation to offspring autism spectrum disorders (ASD) have reported an association, though findings are not uniform and few have also examined gestational weight gain (GWG). Therefore, we examined both…
Family history of immune conditions and autism spectrum and developmental disorders: Findings from the study to explore early development
Numerous studies have reported immune system disturbances in individuals with autism and their family members; however, there is considerable variability in findings with respect to the specific immune conditions involved, their timing, and the family members affected and little understanding…
A meta-analysis of two high-risk prospective cohort studies reveals autism-specific transcriptional changes to chromatin, autoimmune, and environmental response genes in umbilical cord blood
Autism spectrum disorder (ASD) is a neurodevelopmental disorder that affects more than 1% of children in the USA. ASD risk is thought to arise from both genetic and environmental factors, with the perinatal period as a critical window. Understanding early…
Infections in children with autism spectrum disorder: Study to Explore Early Development (SEED)
Immune system abnormalities have been widely reported among children with autism spectrum disorder (ASD), which may increase the risk of childhood infections. The Study to Explore Early Development (SEED) is a multisite case-control study of children aged 30-69 months, born…
Brief Report: Maternal Opioid Prescription from Preconception Through Pregnancy and the Odds of Autism Spectrum Disorder and Autism Features in Children
Opioid use during pregnancy is associated with suboptimal pregnancy outcomes. Little is known about child neurodevelopmental outcomes. We examined associations between maternal opioid prescriptions preconception to delivery (peri-pregnancy) and child's risk of ASD, developmental delay/disorder (DD) with no ASD features,…
Brief Report: Low Rates of Herpesvirus Detection in Blood of Individuals with Autism Spectrum Disorder and Controls
Previous research indicates that infection, especially from viruses in the family Herpesviridae, may play a role in the etiology of some cases of autism spectrum disorder (ASD). Using a case-control design and the polymerase chain reaction with site-specific primers, we…
Maternal Inflammation during Pregnancy and Neurodevelopmental Disorders
This study will utilize the Pregnancy Cohort from the Kaiser Permanente Northern California Research Program on Genes, Environment and Health to characterize the maternal immune profile over pregnancy and evaluate whether there are specific longitudinal patterns that are associated with…
Optimizing Social Communication Measurement with the Social Responsiveness Scale
This project aims to: 1) compare the psychometric characteristics (including distributional properties, agreement with gold-standard diagnostic measures, and sensitivity and specificity) of short versus full Social Responsiveness Scale (SRS) scores, using existing child SRS data from the Environmental influences on…
Placental gross shape differences in a high autism risk cohort and the general population
A growing body of evidence suggests that prenatal environment is important in Autism Spectrum Disorder (ASD) etiology. In this study, we compare placental shape features in younger siblings of children with ASD, who themselves are at high ASD risk, to…
Cross-genetic determination of maternal and neonatal immune mediators during pregnancy
The immune system plays a fundamental role in development during pregnancy and early life. Alterations in circulating maternal and neonatal immune mediators have been associated with pregnancy complications as well as susceptibility to autoimmune and neurodevelopmental conditions in later life…
Associations Between the 2nd to 4th Digit Ratio and Autism Spectrum Disorder in Population-Based Samples of Boys and Girls: Findings from the Study to Explore Early Development
The ratio of the index (2nd) finger to ring (4th) finger lengths (2D:4D) is a proxy for fetal testosterone and estradiol. Studies suggesting 2D:4D is inversely associated with autism spectrum disorder (ASD) in males were limited by lack of confounder…
Psychiatric and Medical Conditions in Transition-Aged Individuals With ASD
Children with autism spectrum disorder (ASD) have a variety of medical and psychiatric conditions and an increased use of health care services. There is limited information about the prevalence of psychiatric and medical conditions in adolescents and young adults with…
Prenatal Maternal Serum Concentrations of Per- and Polyfluoroalkyl Substances in Association with Autism Spectrum Disorder and Intellectual Disability
Emerging work has examined neurodevelopmental outcomes following prenatal exposure to per- and polyfluoroalkyl substances (PFAS), but few studies have assessed associations with autism spectrum disorder (ASD). Our objective was to estimate associations of maternal prenatal PFAS concentrations with ASD and…
Case-control meta-analysis of blood DNA methylation and autism spectrum disorder
Several reports have suggested a role for epigenetic mechanisms in ASD etiology. Epigenome-wide association studies (EWAS) in autism spectrum disorder (ASD) may shed light on particular biological mechanisms. However, studies of ASD cases versus controls have been limited by post-mortem…
Cord blood buffy coat DNA methylation is comparable to whole cord blood methylation
Cord blood DNA methylation is associated with numerous health outcomes and environmental exposures. Whole cord blood DNA reflects all nucleated blood cell types, while centrifuging whole blood separates red blood cells, generating a white blood cell buffy coat. Both sample…
Autism spectrum disorder and birth spacing: Findings from the study to explore early development (SEED)
Previous studies of autism spectrum disorder (ASD) and birth spacing had limitations; few examined phenotypic case subtypes or explored underlying mechanisms for associations and none assessed whether other (non-ASD) developmental disabilities (DDs) were associated with birth spacing. We assessed associations…
Autism Adaptive Community-Based Treatment to Improve Outcomes Using Navigators (ACTION) Network
One of the greatest challenges in autism treatment is how to bridge the health care science-to-service gap and address disparities in access to evidence-based early intervention for children with autism spectrum disorder. This project will establish a new interdisciplinary network…
Autism risk classification using placental chorionic surface vascular network features
Autism Spectrum Disorder (ASD) is one of the fastest-growing developmental disorders in the United States. It was hypothesized that variations in the placental chorionic surface vascular network (PCSVN) structure may reflect both the overall effects of genetic and environmentally regulated…
Barriers to Health Care in a Latino Population with Autism Spectrum Disorder
This study will identify barriers to the use of recommended assessment, diagnostic, and treatment services among Latino children and adolescents with autism spectrum disorder. The study population will comprise Kaiser Permanente Northern California Latino members, and comparisons will be made…
Cross-tissue integration of genetic and epigenetic data offers insight into autism spectrum disorder
Integration of emerging epigenetic information with autism spectrum disorder (ASD) genetic results may elucidate functional insights not possible via either type of information in isolation. Here we use the genotype and DNA methylation (DNAm) data from cord blood and peripheral…
Maternal BMI at the start of pregnancy and offspring epigenome-wide DNA methylation: findings from the pregnancy and childhood epigenetics (PACE) consortium
Pre-pregnancy maternal obesity is associated with adverse offspring outcomes at birth and later in life. Individual studies have shown that epigenetic modifications such as DNA methylation could contribute. Within the Pregnancy and Childhood Epigenetics (PACE) Consortium, we meta-analysed the association…
Scaling of the surface vasculature on the human placenta
The networks of veins and arteries on the chorionic plate of the human placenta are analyzed in terms of Voronoi cells derived from these networks. Two groups of placentas from the United States are studied: a population cohort with no…
Maternal and Paternal Infertility Disorders and Treatments and Autism Spectrum Disorder: Findings from the Study to Explore Early Development
Previous studies of associations between ASD and conception using assisted reproductive technology (ART) are inconsistent and few studies have examined associations with other infertility treatments or infertility disorders. We examined associations between ASD and maternal/paternal infertility disorders and numerous maternal…
Prenatal Alcohol Exposure in Relation to Autism Spectrum Disorder: Findings from the Study to Explore Early Development (SEED)
Prenatal alcohol exposure can affect neurodevelopment, but few studies have examined associations with autism spectrum disorder (ASD). We assessed the association between maternal alcohol use and ASD in the Study to Explore Early Development, a multi-site case-control study of children…
Prenatal Serum Concentrations of Brominated Flame Retardants and Autism Spectrum Disorder and Intellectual Disability in the Early Markers of Autism Study: A Population-Based Case-Control Study in California
Prior studies suggest neurodevelopmental impacts of polybrominated diphenyl ethers (PBDEs), but few have examined diagnosed developmental disorders. Our aim was to determine whether prenatal exposure to brominated flame retardants (BFRs) is associated with autism spectrum disorder (ASD) or intellectual disability…
Demographic and Clinical Characteristics Associated with Engagement in Behavioral Health Treatment Among Children with Autism Spectrum Disorders
This study investigates demographic and clinical factors associated with initiation, continuation, and adherence to behavioral health treatment (BHT) among children with autism spectrum disorder. Among 293 insured children referred for applied behavior analysis (ABA) based BHT, 23% never initiated treatment…
Medical Conditions in the First Years of Life Associated with Future Diagnosis of ASD in Children
This study examines medical conditions diagnosed prior to the diagnosis of autism spectrum disorder (ASD). Using a matched case control design with 3911 ASD cases and 38,609 controls, we found that 38 out of 79 medical conditions were associated with…
Prenatal Exposure to Metals and Risk for Autism Spectrum Disorder in MARBLES and EARLI
The peri-conceptual and prenatal periods of gestation are the most likely window of susceptibility for ASD; thus, maternal exposures and maternal genetic susceptibility are critical targets of investigation. Maternal exposure to heavy metals has been recognized for many years as…
Health System Integration of Tools to Improve Primary Care for Autistic Adults
The objective of this project is to use a CBPR approach to understand how to best integrate the AASPIRE Healthcare Toolkit, an online healthcare toolkit aimed at improving primary care services for autistic adults, into the KP Northern CA healthcare…
Understanding Family Economic Impact of Chronic Child Health Conditions
This study will address an important knowledge gap by estimating financial and time costs for families of children with autism. We will recruit 1,500 families of children 3-17 years old from geographically and ethnically diverse integrated health systems: Kaiser Permanente…
Polychlorinated Biphenyl and Organochlorine Pesticide Concentrations in Maternal Mid-Pregnancy Serum Samples: Association with Autism Spectrum Disorder and Intellectual Disability
Polychlorinated biphenyls (PCBs) and organochlorine pesticides (OCPs) are neurodevelopmental toxicants, but few studies have examined associations with autism spectrum disorder (ASD). We aimed to determine whether prenatal exposure to PCBs and OCPs influences offspring risk of ASD and intellectual disability…
Independent Maternal and Fetal Genetic Effects on Mid-gestational Circulating Levels of Environmental Pollutants
Maternal exposure to environmental pollutants could affect fetal brain development and increase autism spectrum disorder (ASD) risk in conjunction with differential genetic susceptibility. Organohalogen congeners measured in maternal midpregnancy blood samples have recently shown significant, but negative associations with offspring…
Prenatal SSRI Exposure, Maternal and Child Genotype, and Autism Spectrum Disorders
The prevalence of Autism Spectrum Disorders (ASD) has increased rapidly over recent decades. Among many environmental exposures that have also increased in frequency is the use of anti-depressant medications during pregnancy. Approximately 10% of pregnant women are prescribed selective seratonin…
Prospective Evaluation of Air Pollution, Cognition and Autism from Birth Onward
This study will examine the relationship between perinatal and early life air pollution exposure and early longitudinal measures of cognitive ability and ASD in two prospective samples - Markers of Autism Risk in Babies, Learning Early Signs (MARBLES) and Early…
Neurodevelopment of Cognitive Control in Autism: Adolescence to Young Adulthood
This study compares the developmental trajectory of behavioral measures of cognitive control from adolescence into young adulthood in typical individuals (TYP) and individuals with Autism Spectrum Disorder (ASD). We predict that approximately 2/3 of those with ASD will show a…
Folic Acid Prevention Pathways for ASD in High Risk Families
Autism spectrum disorders affect 1 in 68 children in the US. There is evidence for a potentially large role for the early in-utero environment, including gestational nutrition, in ASD etiology. Maternal folic acid is one of the first modifiable factors…
Creation of an ASD Family Biobank for Genomic and Epidemiologic Analysis of Autism Spectrum Disorders
The central aim of the ASD Family Biorepository is to act as a resource to promote and facilitate research on genetic and environmental influences on autism spectrum disorders and response to treatment. We are committed to providing fair access to…
Transitioning Pediatric Patients with ASD to Adult Care
This study includes the following aims: 1) Investigate prevalence of medical and psychiatric co-morbidities and rate of service and medication utilization among transition-age (15-25 years) patients with ASD in KPNC; 2) Determine barriers and facilitators of smooth transitions from pediatric…
Early Life Exposure to Endocrine Disrupting Chemicals and Child Growth, Adiposity, and Neurodevelopment
We hypothesize that in-utero exposures to commonly used endocrine disrupting chemicals, such as PFCs and PBDEs, individually and/or in combination, have adverse effects on child obesity and neurodevelopment through possible common pathways. Our aims are: Aim 1. To evaluate whether…
Design of study of fetal pharmaceutical use of the 1950s through 70s
This study will explore the feasibility of accessing information on the nature and extent of prenatal pharmaceutical usage in the late 1950s through the 1970s.
Role of Pre-natal Vitamin D and Gene Interactions in Autism Spectrum Disorders: Leveraging an Existing Case-Control Study
This study is the first to investigate the role of perinatal vitamin D deficiency or insufficiency in ASD etiology, as modulated by race and genes involved in vitamin D metabolism and receptor activity, in a large, racially-diverse cohort. The role…
Autism with intellectual disability is associated with increased levels of maternal cytokines and chemokines during gestation
Immune abnormalities have been described in some individuals with autism spectrum disorders (ASDs) as well as their family members. However, few studies have directly investigated the role of prenatal cytokine and chemokine profiles on neurodevelopmental outcomes in humans. In the…
California CADDRE-SEED Phase II
The goal of this project is to continue the SEED study, a case-control study of genetic and environmental risk factors for autism. The major goal of the project is to conduct a multi-site collaborative epidemiologic study to investigate risk and…
Association Between Influenza Infection and Vaccination During Pregnancy and Risk of Autism Spectrum Disorder
Maternal infections and fever during pregnancy are associated with increased risk for autism spectrum disorders (ASDs). To our knowledge, no study has investigated the association between influenza vaccination during pregnancy and ASD. To investigate the association between influenza infection and…
A Survey of Parents with Children on the Autism Spectrum: Experience with Services and Treatments
Autism spectrum disorders (ASD) are lifelong neurodevelopmental disorders, and little is known about how parents address the health and psychosocial consequences of ASD. Few studies have examined use of various treatments and services in a large, diverse sample of children…
Umbilical cord blood androgen levels and ASD-related phenotypes at 12 and 36 months in an enriched risk cohort study
Autism spectrum disorder (ASD) affects more than 1% of children in the USA. The male-to-female prevalence ratio of roughly 4:1 in ASD is a well-recognized but poorly understood phenomenon. An explicit focus on potential etiologic pathways consistent with this sex…
Psychotropic Medication Use among Insured Children with Autism Spectrum Disorder
This study examined psychotropic medication use among 7901 children aged 1-17 with autism spectrum disorder (ASD) in five health systems, comparing to matched cohorts with no ASD. Nearly half (48.5 %) of children with ASD received psychotropics in the year observed;…
The autism symptom interview, school-age: A brief telephone interview to identify autism spectrum disorders in 5-to-12-year-old children
This study reports on the initial validation of the Autism Symptom Interview (ASI), School-Age, a brief (15-20 min) phone interview derived from questions from the Autism Diagnostic Interview-Revised (ADI-R). The ASI, School-Age was administered by interviewers with minimal training to…
The Changing Epidemiology of Autism Spectrum Disorders
Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with lifelong impacts. Genetic and environmental factors contribute to ASD etiology, which remains incompletely understood. Research on ASD epidemiology has made significant advances in the past decade. Current prevalence is estimated…
The Kaiser Permanente Northern California research program on genes, environment, and health (RPGEH) pregnancy cohort: study design, methodology and baseline characteristics
Exposures during the prenatal period may have lasting effects on maternal and child health outcomes. To better understand the effects of the in utero environment on children's short- and long-term health, large representative pregnancy cohorts with comprehensive information on a…
Differences in testosterone and its precursors by sex of the offspring in meconium
Prenatal metabolism exerts profound effects on development. The first stool of the newborn, meconium, provides a window into the prenatal metabolic environment. The objective of this study was to examine the feasibility of meconium as a novel matrix to quantify…
Pleiotropic Mechanisms Indicated for Sex Differences in Autism
Sexual dimorphism in common disease is pervasive, including a dramatic male preponderance in autism spectrum disorders (ASDs). Potential genetic explanations include a liability threshold model requiring increased polymorphism risk in females, sex-limited X-chromosome contribution, gene-environment interaction driven by differences in…
Maternal Exposure to Occupational Asthmagens During Pregnancy and Autism Spectrum Disorder in the Study to Explore Early Development
Maternal immune activity has been linked to children with autism spectrum disorder (ASD). We examined maternal occupational exposure to asthma-causing agents during pregnancy in relation to ASD risk. Our sample included 463 ASD cases and 710 general population controls from…
Risk of Autism Associated With Hyperbilirubinemia and Phototherapy
Whether neonatal hyperbilirubinemia and/or phototherapy increase the risk of autism spectrum disorder (ASD) is unclear. We sought to quantify the risk of ASD associated with elevated total serum bilirubin (TSB) levels and with phototherapy. In a retrospective cohort study of…
Demographic profile of families and children in the Study to Explore Early Development (SEED): Case-control study of autism spectrum disorder
The Study to Explore Early Development (SEED) is designed to enhance knowledge of autism spectrum disorder characteristics and etiologies. This paper describes the demographic profile of enrolled families and examines sociodemographic differences between children with autism spectrum disorder and children…
Maternal mid-pregnancy C-reactive protein and risk of autism spectrum disorders: the early markers for autism study
Maternal pregnancy levels of the inflammatory marker C-reactive protein (CRP) has been previously associated with autism spectrum disorder (ASD) in the offspring. We conducted a population-based nested case-control study with 500 children with ASD, 235 with developmental delay (DD) and…
Health Services Utilization Among Children With and Without Autism Spectrum Disorders
Using data from multiple health systems (2009-2010) and the largest sample to date, this study compares health services use among youth with and without an autism spectrum disorder (ASD)-including preventive services not previously studied. To examine these differences, we estimated…
Peripheral Blood Leukocyte Production of BDNF following Mitogen Stimulation in Early Onset and Regressive Autism
Brain-derived neurotrophic factor (BDNF) is critical for neuronal differentiation and synaptic development. BDNF is also implicated in the development of psychological disorders including depression, bipolar disorder and schizophrenia. Previously, elevated BDNF levels were observed in neonatal blood samples from infants…
Prenatal and Newborn Immunoglobulin Levels from Mother-Child Pairs and Risk of Autism Spectrum Disorders
An etiological role for immune factors operating during early brain development in children with autism spectrum disorders (ASD) has not yet been established. A major obstacle has been the lack of early biologic specimens that can be linked to later…
Presence of an epigenetic signature of prenatal cigarette smoke exposure in childhood
Prenatal exposure to tobacco smoke has lifelong health consequences. Epigenetic signatures such as differences in DNA methylation (DNAm) may be a biomarker of exposure and, further, might have functional significance for how in utero tobacco exposure may influence disease risk…
Maternal Infection During Pregnancy and Autism Spectrum Disorders
We conducted a nested case-control study including 407 cases and 2,075 frequency matched controls to investigate the association between maternal infections during pregnancy and risk of autism spectrum disorders (ASD). Cases, controls, and maternal infections were ascertained from Kaiser Permanente…
A Study of Physician Knowledge and Experience with Autism in Adults in a Large Integrated Healthcare System
We conducted an online survey of adult health care providers at Kaiser Permanente Northern California and semi-structured interviews with a subset of physicians. The survey assessed providers' ability to recognize autism spectrum disorder (ASD), asked them to rate their autism…
The health status of adults on the autism spectrum
Compared to the general pediatric population, children with autism have higher rates of co-occurring medical and psychiatric illnesses, yet very little is known about the general health status of adults with autism. The objective of this study was to describe…
Autism Spectrum Disorder Symptoms Among Children Enrolled in the Study to Explore Early Development (SEED)
This study examined the phenotypic profiles of children aged 30-68 months in the Study to Explore Early Development (SEED). Children classified as autism spectrum disorder (ASD), developmental delay (DD) with ASD symptoms, DD without ASD symptoms, and population comparison (POP) differed…
Prevalence and Predictors of Complementary and Alternative Medicine Use in a Large Insured Sample of Children with Autism Spectrum Disorders
The purpose of the present study was to examine the prevalence and predictors of complementary and alternative medicine (CAM) use as well as parental perceptions of CAM efficacy in a large, geographically diverse sample of children with Autism Spectrum Disorders…
Characterizing Race/Ethnicity and Genetic Ancestry for 100,000 Subjects in the Genetic Epidemiology Research on Adult Health and Aging (GERA) Cohort
Using genome-wide genotypes, we characterized the genetic structure of 103,006 participants in the Kaiser Permanente Northern California multi-ethnic Genetic Epidemiology Research on Adult Health and Aging Cohort and analyzed the relationship to self-reported race/ethnicity. Participants endorsed any of 23 race/ethnicity/nationality…
Automated Assay of Telomere Length Measurement and Informatics for 100,000 Subjects in the Genetic Epidemiology Research on Adult Health and Aging (GERA) Cohort
The Kaiser Permanente Research Program on Genes, Environment, and Health (RPGEH) Genetic Epidemiology Research on Adult Health and Aging (GERA) cohort includes DNA specimens extracted from saliva samples of 110,266 individuals. Because of its relationship to aging, telomere length measurement…
Genotyping Informatics and Quality Control for 100,000 Subjects in the Genetic Epidemiology Research on Adult Health and Aging (GERA) Cohort
The Kaiser Permanente (KP) Research Program on Genes, Environment and Health (RPGEH), in collaboration with the University of California-San Francisco, undertook genome-wide genotyping of >100,000 subjects that constitute the Genetic Epidemiology Research on Adult Health and Aging (GERA) cohort. The…
Paternal sperm DNA methylation associated with early signs of autism risk in an autism-enriched cohort
Epigenetic mechanisms such as altered DNA methylation have been suggested to play a role in autism, beginning with the classical association of Prader-Willi syndrome, an imprinting disorder, with autistic features. Here we tested for the relationship of paternal sperm DNA…
Validation of Autism Spectrum Disorder Diagnoses in Large Healthcare Systems with Electronic Medical Records
To identify factors associated with valid Autism Spectrum Disorder (ASD) diagnoses from electronic sources in large healthcare systems. We examined 1,272 charts from ASD diagnosed youth 2 diagnoses in the medical record (OR 2.94; 95% CI 2.03-4.25; p < 0.001)…
Immune mediated conditions in autism spectrum disorders
We conducted a case-control study among members of Kaiser Permanente Northern California (KPNC) born between 1980 and 2003 to determine the prevalence of immune-mediated conditions in individuals with autism, investigate whether these conditions occur more often than expected, and explore…
Prenatal and Neonatal Thyroid Stimulating Hormone Levels and Autism Spectrum Disorders
Thyroid hormones are critical for normal brain development. This study examined autism spectrum disorders (ASD) and thyroid stimulating hormone (TSH) levels measured in mid-pregnancy maternal serum and infant blood after birth. Three groups of children born in Orange County, CA…
Increased female autosomal burden of rare copy number variants in human populations and in autism families
Autosomal genetic variation is presumed equivalent in males and females and makes a major contribution to disease risk. We set out to identify whether maternal copy number variants (CNVs) contribute to autism spectrum disorders (ASDs). Surprisingly, we observed a higher…
Familial Recurrence of Autism Spectrum Disorder: Evaluating Genetic and Environmental Contributions
This study was designed to examine the pattern of familial recurrence of autism spectrum disorder (ASD) in terms of genetic and environmental contributions related to timing of birth. The authors linked California Department of Developmental Services records with state birth…
Evidence of Reproductive Stoppage in Families With Autism Spectrum Disorder: A Large, Population-Based Cohort Study
Few studies have examined the curtailment of reproduction (ie, stoppage) after the diagnosis of a child with autism spectrum disorder (ASD). To examine stoppage in a large, population-based cohort of families in which a child has received a diagnosis of…
Prenatal and neonatal peripheral blood mercury levels and autism spectrum disorders
Prenatal and early-life exposures to mercury have been hypothesized to be associated with increased risk of autism spectrum disorders (ASDs). This study investigated the association between ASDs and levels of total mercury measured in maternal serum from mid-pregnancy and infant…
Prenatal and perinatal risk factors in a twin study of autism spectrum disorders
Multiple studies associate prenatal and perinatal complications with increased risks for autism spectrum disorders (ASDs). The objectives of this study were to utilize a twin study design to 1) Investigate whether shared gestational and perinatal factors increase concordance for ASDs…
Determining Source Strength of Semivolatile Organic Compounds using Measured Concentrations in Indoor Dust
Consumer products and building materials emit a number of semivolatile organic compounds (SVOCs) in the indoor environment. Because indoor SVOCs accumulate in dust, we explore the use of dust to determine source strength and report here on analysis of dust…
Adaptation of the ‘ten questions’ to screen for autism and other neuro-developmental disorders in Uganda
Neurodevelopmental disorders are recognized to be relatively common in developing countries but little data exist for planning effective prevention and intervention strategies. In particular, data on autism spectrum disorders are lacking. For application in Uganda, we developed a 23-question screener…
Neonatal cytokines and chemokines and risk of Autism Spectrum Disorder: the Early Markers for Autism (EMA) study: a case-control study
Biologic markers of infection and inflammation have been associated with Autism Spectrum Disorders (ASD) but prior studies have largely relied on specimens taken after clinical diagnosis. Research on potential biologic markers early in neurodevelopment is required to evaluate possible causal…
Prevalence and Neonatal Factors Associated with Autism Spectrum Disorders in Preterm Infants
To determine the prevalence of autism spectrum disorders (ASD) across gestational age, examine the risk of ASD by gestational age controlling for other risk factors, and identify potential risk factors in the neonatal intensive care unit. A retrospective cohort of…
Head Circumferences in Twins With and Without Autism Spectrum Disorders
To determine the genetic relationship between head circumference (HC) and Autism Spectrum Disorders (ASDs). Twin pairs with at least one twin with an ASD were assessed. HCs in affected and unaffected individuals were compared, as were HC correlations in monozygotic…
Is Infertility Associated with Childhood Autism?
Concerns persist about a possible link between infertility and risk of autism spectrum disorders (ASD). Interpretation of existing studies is limited by racial/ethnic homogeneity of study populations and other factors. Using a case-control design, we evaluated infertility history and treatment…
Use of Birth Certificates to Examine Maternal Occupational Exposures and Autism Spectrum Disorders in Offspring
The continuing rise in the prevalence of autism spectrum disorders has led to heightened interest in the role of nongenetic factors, including exogenous exposures, but little research has been conducted. To explore a possible role in autism etiology, we used…
A genome-wide survey of transgenerational genetic effects in autism
Effects of parental genotype or parent-offspring genetic interaction are well established in model organisms for a variety of traits. However, these transgenerational genetic models are rarely studied in humans. We have utilized an autism case-control study with 735 mother-child pairs…
Sequencing of the IL6 gene in a case–control study of cerebral palsy in children
Cerebral palsy (CP) is a group of nonprogressive disorders of movement and posture caused by abnormal development of, or damage to, motor control centers of the brain. A single nucleotide polymorphism (SNP), rs1800795, in the promoter region of the interleukin-6…
Genetic risk factors for perinatal arterial ischemic stroke
The cause of perinatal arterial ischemic stroke is unknown in most cases. We explored whether genetic polymorphisms modify the risk of perinatal arterial ischemic stroke. In a population-based case-control study of 1997-2002 births at Kaiser Permanente Northern California, we identified…
The Study to Explore Early Development (SEED): A Multisite Epidemiologic Study of Autism by the Centers for Autism and Developmental Disabilities Research and Epidemiology (CADDRE) Network
The Study to Explore Early Development (SEED), a multisite investigation addressing knowledge gaps in autism phenotype and etiology, aims to: (1) characterize the autism behavioral phenotype and associated developmental, medical, and behavioral conditions and (2) investigate genetic and environmental risks…
Evaluating Changes in the Prevalence of the Autism Spectrum Disorders (ASDs)
Autism spectrum disorders (ASDs) are estimated to occur among about one percent of children in the United States. This estimate is in line with estimates from other industrialized countries. However, the identified prevalence of ASDs has increased significantly in a…
Infant siblings and the investigation of autism risk factors
ABSTRACT: Infant sibling studies have been at the vanguard of autism spectrum disorders (ASD) research over the past decade, providing important new knowledge about the earliest emerging signs of ASD and expanding our understanding of the developmental course of this…
Candidate Genes and Risk for Cerebral Palsy: a Population-Based Study
Studies suggest that genetic polymorphisms may increase an individual's susceptibility to CP. Most findings have yet to be corroborated in an independent cohort. This case-control study is nested within all 334,333 infants >/=36 wk gestation born at Kaiser Permanente Medical…
Prenatal exposure to beta2-adrenergic receptor agonists and risk of autism spectrum disorders
This study aims to investigate the association between prenatal exposure to terbutaline and other beta2 adrenergic receptor (B2AR) agonists and autism spectrum disorders (ASDs). The methodology used is a case-control study among children born from 1995 to 1999 at Kaiser…
Genetic Heritability and Shared Environmental Factors Among Twin Pairs With Autism
CONTEXT: Autism is considered the most heritable of neurodevelopmental disorders, mainly because of the large difference in concordance rates between monozygotic and dizygotic twins. OBJECTIVE: To provide rigorous quantitative estimates of genetic heritability of autism and the effects of shared…
Antidepressant Use During Pregnancy and Childhood Autism Spectrum Disorders
CONTEXT: The prevalence of autism spectrum disorders (ASDs) has increased over recent years. Use of antidepressant medications during pregnancy also shows a secular increase in recent decades, prompting concerns that prenatal exposure may contribute to increased risk of ASD. OBJECTIVE:…
Birth Prevalence of Autism Spectrum Disorders in the San Francisco Bay Area by Demographic and Ascertainment Source Characteristics
Using standardized methods for multi-source surveillance, we calculated the prevalence of autism spectrum disorders (ASD) among children born in a racially diverse region in 1994 or 1996 as 4.7/1000 live births. Children with ASD before age 9 were identified through…
Epidemiology of peripartum cardiomyopathy: incidence, predictors, and outcomes
OBJECTIVES: To estimate the incidence, describe the mortality, and identify independent predictors of peripartum cardiomyopathy, a very serious cardiovascular complication of pregnancy associated with maternal morbidity and mortality among otherwise healthy women without prior heart disease. METHODS: We identified all…