About

Deborah Bilder, MD, is a Professor in the Department of Psychiatry in the Division of Child and Adolescent Psychiatry and an Adjunct Professor in the Department of Pediatrics at the University of Utah. She completed the triple board residency program in Pediatrics, General Psychiatry, and Child & Adolescent Psychiatry at the University of Utah and maintains board certification in all three specialties. Her research and clinical expertise focus on autism and neurodevelopmental disabilities. She is the Principal Investigator for the Utah Registry of Autism and Developmental Disabilities and Co-Principal Investigator for the Utah site of the CDC’s Autism and Developmental Disabilities Monitoring Network. Dr. Bilder has contributed to the development of the Sources of Distress Survey Tool, a web-based adaptive tool designed for parents and caregivers of children and adults with neurodevelopmental disabilities to identify underlying treatment targets for irritability and agitation. She facilitated the growth of the Neurobehavior HOME program, a Medicaid-funded medical home program for individuals with neurodevelopmental disabilities. Additionally, she consults for pharmaceutical companies on clinical trial protocol development targeting rare genetic conditions.

Research topics

• Gerontology
• Psychiatry
• Medicine
• Pediatrics
• Environmental health
• Demography
• Psychology

Selected publications

• Mortality Among Youth and Young Adults With Autism Spectrum Disorder, Intellectual Disability, or Cerebral Palsy

  JAMA Pediatrics · 2026-02-09 · 1 citations

  articleOpen access

  Importance: Autism spectrum disorder (ASD), intellectual disability (ID), and cerebral palsy (CP) are lifelong neurodevelopmental conditions accompanied by varying impairments. US mortality data for these groups are limited. Objective: To compare mortality and causes of death among a multisite cohort identified at age 8 years with ASD, ID, or CP with the general population through youth or young adulthood. Design, Setting, and Participants: Nine US sites identified 32 787 individuals who met case definitions for ASD, ID, and/or CP at age 8 years during active population-based cross-sectional surveillance conducted biennially from 2000 through 2016 by the US Centers for Disease Control and Prevention's Autism and Developmental Disabilities Monitoring (ADDM) Network. Individuals were linked to death certificates through 2021. Cases with multiple conditions (18.9%) were included in each case group. General population data from the National Vital Statistics System were matched to ADDM Network sites and years of participation. Analyses were completed in 2024. Exposure(s): ASD, ID, or CP. Main Outcomes and Measures: Death and International Classification of Diseases, 10th revision (ICD-10) International Statistical Classification of Diseases and Related Health Problems, Tenth Revision (ICD-10) causes from death certificate linkage. Results: There were 145 deaths among 23 393 people with ASD, 285 deaths among 14 031 people with ID, and 123 deaths among 1612 people with CP. Increased mortality compared with the general population was seen for ASD (hazard ratio [HR], 1.35; 95% CI, 1.15-1.59), ID (HR, 4.35; 95% CI, 3.87-4.88), and CP (HR, 9.62; 95% CI, 8.06-11.48). Further stratified by sex and co-occurring ID, mortality for ASD was higher only for females with co-occurring ID (HR, 5.04; 95% CI,3.21-7.91) compared with females in the general population. The distribution of causes of death varied across groups. The most common underlying cause of death ICD-10 chapters were external causes of morbidity and mortality (V01-Y98) for the general population and ASD case group, and diseases of the nervous system (G00-G99) for CP and ID case groups. The only ICD-10 chapter hazard of death that was not elevated for ID and CP compared with the general population was external causes as underlying cause of death. Mortality from external causes was also not elevated as underlying or any cause of death for ASD. There were also notable subchapter mortality differences with important clinical and public health implications. Only 11% of those with ASD, 1% of those with ID, and 49% of those with CP had an ICD-10 code for the respective disability on their death certificate. Conclusions and Relevance: In this study, individuals with ASD, ID, or CP experienced higher mortality from a range of causes compared with the general population in youth and young adulthood. Mortality among these groups is difficult to ascertain using death certificates alone, since ICD-10 codes for these disabilities were rarely listed. These findings can inform public health and health care strategies to understand and prevent health disparities and excess mortality associated with developmental disabilities.

  PublisherOA PDFDOI

• Establishing a core outcome set for creatine transporter deficiency and guanidinoacetate methyltransferase deficiency

  Orphanet Journal of Rare Diseases · 2025-08-07 · 1 citations

  articleOpen access

  BACKGROUND: Creatine transporter (CTD) and guanidinoacetate methyltransferase (GAMT) deficiencies are rare inborn errors of creatine metabolism, resulting in cerebral creatine deficiency. Patients with either condition commonly exhibit intellectual and developmental disabilities, often accompanied by behavior problems, delayed speech, seizures, and motor impairments. There is currently no efficacious treatment for CTD, while current management for GAMT requires lifelong treatment with a protein restricted diet and intake of high amounts of oral supplements. Efforts to conduct clinical trials on potential treatments for these disorders are made more difficult by the lack of clinical and patient-derived meaningful outcomes. A core outcome set (COS) can facilitate consistent use of outcomes in studies. The current effort included patient and caregiver perspectives into the outcome selection of a COS for CTD and GAMT. RESULTS: We partnered with caregivers and health professionals to establish the first COS for CTD and GAMT. The COS developed includes seven outcomes ("Adaptive Functioning", "Cognitive Functioning", "Emotional Dysregulation", "MRS Brain Creatine", "Seizure/Convulsions", "Expressive Communication", and "Fine Motor Functions") for both CTD and GAMT, and an additional outcome for GAMT ("Serum/Plasma Guanidinoacetate") that are important to stakeholders and consequently should be considered for measurement in every clinical trial. Caregivers were valued partners throughout the COS development process, which increased community engagement and facilitated caregiver empowerment. CONCLUSIONS: Development of this COS illustrates a patient-centered approach for clinical trial readiness for CTD and GAMT that if utilized will make clinical trial results comparable, minimize bias in clinical trial outcome selection, and promote efficient use of resources.

  PublisherOA PDFDOI

• Multigenerational exposures to polluting industries and developmental disabilities

  The Science of The Total Environment · 2025-06-13

  articleOpen access

  Animal models suggest that environmental exposures can impact future generations of offspring. Yet, there are limited human epidemiological studies of multigenerational environmental exposures, and even fewer such studies of maternal and paternal exposures. Leveraging a unique data resource in Utah (USA), we examine if offspring (F2, n = 6380) are at increased risk of intellectual disability (ID) if the mother or father (F1) were exposed to polluting industrial facilities while their own mothers (F0) were pregnant. We obtained historical data on polluting industry locations and calculated facility densities within 3 km and 5 km of each child's (F2) grandmothers' (F0) residential addresses at time of their mothers' and fathers' (F1) births as well as their mother's address at the time of their birth. We weighted those counts by pairing industry codes with national Risk-Screening Environmental Indicators health risk scores. One standard deviation (SD) increase in the density of facilities near the pregnant maternal grandmother was associated with 1.12 (1.03–1.22) and 1.09 (1.003–1.19) times greater odds of ID at 3 km and 5 km, respectively. Weighing these facility densities by risk, odds ratios associated with SD increases were 1.12 (1.04–1.20, 3 km) and 1.08 (1.003–1.17, 5 km). Associations with facility densities near the pregnant paternal grandmother were positive but weak. Associations with risk-weighted facility density near the pregnant paternal grandmother were stronger at 5 km (1.12, 1.02–1.22) than at 3 km. Results indicated that ancestral exposures, particularly when the maternal grandmother (F0) was pregnant with the mother (F1), may increase risks of developmental disabilities in the next generation (F2). • Research on multigenerational environmental exposures in humans is rare. • We examined intellectual disability (ID) in children using the Utah Population Database. • Maternal grandmothers' industrial exposures were positively related to ID risk. • There is a stronger signal for maternal vs. paternal grandmothers' exposures. • Results suggest that environmental exposures can impact multiple human generations.

  PublisherDOI

• Associations between prenatal PM2.5 exposures and intellectual disability: Are there differential impacts based on co-occurrence of autism spectrum disorder?

  Environmental Research · 2025-11-20

  article
  PublisherDOI

• Prevalence and Early Identification of Autism Spectrum Disorder Among Children Aged 4 and 8 Years — Autism and Developmental Disabilities Monitoring Network, 16 Sites, United States, 2022

  MMWR Surveillance Summaries · 2025-04-15 · 492 citations

  articleOpen access

  Problem/Condition: Autism spectrum disorder (ASD). Period Covered: 2022. Description of System: The Autism and Developmental Disabilities Monitoring Network is an active surveillance program that estimates prevalence and characteristics of ASD and monitors timing of ASD identification among children aged 4 and 8 years. In 2022, a total of 16 sites (located in Arizona, Arkansas, California, Georgia, Indiana, Maryland, Minnesota, Missouri, New Jersey, Pennsylvania, Puerto Rico, Tennessee, Texas [two sites: Austin and Laredo], Utah, and Wisconsin) conducted surveillance for ASD among children aged 4 and 8 years and suspected ASD among children aged 4 years. Surveillance included children who lived in the surveillance area at any time during 2022. Children were classified as having ASD if they ever received 1) an ASD diagnostic statement in a comprehensive developmental evaluation, 2) autism special education eligibility, or 3) an ASD International Classification of Diseases, Ninth Revision (ICD-9) code in the 299 range or International Classification of Diseases, Tenth Revision (ICD-10) code of F84.0, F84.3, F84.5, F84.8, or F84.9. Children aged 4 years were classified as having suspected ASD if they did not meet the case definition for ASD but had an evaluator's suspicion of ASD documented in a comprehensive developmental evaluation. Results: Among children aged 8 years in 2022, ASD prevalence was 32.2 per 1,000 children (one in 31) across the 16 sites, ranging from 9.7 in Texas (Laredo) to 53.1 in California. The overall observed prevalence estimate was similar to estimates calculated using Bayesian hierarchical and random effects models. ASD was 3.4 times as prevalent among boys (49.2) than girls (14.3). Overall, ASD prevalence was lower among non-Hispanic White (White) children (27.7) than among Asian or Pacific Islander (A/PI) (38.2), American Indian or Alaska Native (AI/AN) (37.5), non-Hispanic Black or African American (Black) (36.6), Hispanic or Latino (Hispanic) (33.0), and multiracial children (31.9). No association was observed between ASD prevalence and neighborhood median household income (MHI) at 11 sites; higher ASD prevalence was associated with lower neighborhood MHI at five sites.Record abstraction was completed for 15 of the 16 sites for 8,613 children aged 8 years who met the ASD case definition. Of these 8,613 children, 68.4% had a documented diagnostic statement of ASD, 67.3% had a documented autism special education eligibility, and 68.9% had a documented ASD ICD-9 or ICD-10 code. All three elements of the ASD case definition were present for 34.6% of children aged 8 years with ASD.Among 5,292 (61.4% of 8,613) children aged 8 years with ASD with information on cognitive ability, 39.6% were classified as having an intellectual disability. Intellectual disability was present among 52.8% of Black, 50.0% of AI/AN, 43.9% of A/PI, 38.8% of Hispanic, 32.7% of White, and 31.2% of multiracial children with ASD. The median age of earliest known ASD diagnosis was 47 months and ranged from 36 months in California to 69.5 months in Texas (Laredo).Cumulative incidence of ASD diagnosis or eligibility by age 48 months was higher among children born in 2018 (aged 4 years in 2022) than children born in 2014 (aged 8 years in 2022) at 13 of the 15 sites that were able to abstract records. Overall cumulative incidence of ASD diagnosis or eligibility by age 48 months was 1.7 times as high among those born in 2018 compared with those born in 2014 and ranged from 1.4 times as high in Arizona and Georgia to 3.1 times as high in Puerto Rico. Among children aged 4 years, for every 10 children meeting the case definition of ASD, one child met the definition of suspected ASD.Children with ASD who were born in 2018 had more evaluations and identification during ages 0-4 years than children with ASD who were born in 2014 during the 0-4 years age window, with an interruption in the pattern in early 2020 coinciding with onset of the COVID-19 pandemic.Overall, 66.5% of children aged 8 years with ASD had a documented autism test. Use of autism tests varied widely across sites: 24.7% (New Jersey) to 93.5% (Puerto Rico) of children aged 8 years with ASD had a documented autism test in their records. The most common tests documented for children aged 8 years were the Autism Diagnostic Observation Schedule, Autism Spectrum Rating Scales, Childhood Autism Rating Scale, Gilliam Autism Rating Scale, and Social Responsiveness Scale. Interpretation: Prevalence of ASD among children aged 8 years was higher in 2022 than previous years. ASD prevalence was higher among A/PI, Black, and Hispanic children aged 8 years than White children aged 8 years, continuing a pattern first observed in 2020. A/PI, Black, and Hispanic children aged 8 years with ASD were also more likely than White or multiracial children with ASD to have a co-occurring intellectual disability. Identification by age 48 months was higher among children born in 2018 compared with children born in 2014, suggesting increased early identification consistent with historical patterns. Public Health Action: Increased identification of autism, particularly among very young children and previously underidentified groups, underscores the increased demand and ongoing need for enhanced planning to provide equitable diagnostic, treatment, and support services for all children with ASD. The substantial variability in ASD identification across sites suggests opportunities to identify and implement successful strategies and practices in communities to ensure all children with ASD reach their potential.

  PublisherOA PDFDOI

• 3.40 Gap Between Psychiatric Diagnoses and Medication Use in Individuals With Developmental Disabilities Presenting in Crisis

  Journal of the American Academy of Child & Adolescent Psychiatry · 2025-10-01

  articleSenior author
  PublisherDOI

• Associations between Prenatal Pm2.5 Exposures and Intellectual Disability: Are There Differential Impacts Based on Co-Occurrence of Autism Spectrum Disorder?

  SSRN Electronic Journal · 2025-01-01

  preprintOpen access
  PublisherDOI

• Systematic literature review of the somatic comorbidities experienced by adults with phenylketonuria

  Orphanet Journal of Rare Diseases · 2024-08-12 · 22 citations

  reviewOpen access

  BACKGROUND: Phenylketonuria (PKU) is an inborn error of phenylalanine (Phe) metabolism that, if untreated, causes Phe accumulation in the brain leading to neurophysiologic alterations and poor outcomes. Lifelong management centers on dietary Phe restriction, yet long-term complete metabolic control is unachievable for many adults. High blood Phe levels or chronic Phe and intact protein restriction in the diet may lead to somatic comorbidities. A systematic literature review was conducted to evaluate somatic comorbidities experienced by adults with PKU. METHODS: Clinical and observational studies reporting somatic comorbidities experienced by individuals with PKU aged ≥ 16 years (or classified as adults) evaluating a Phe-restricted diet with or without pharmacologic therapy versus no therapeutic intervention (including healthy controls), or pharmacologic therapy versus a Phe-restricted diet alone, were identified. PubMed® was searched (February 1, 2022 and updated November 1, 2023), using a pre-defined search strategy, followed by two-stage screening and data extraction. Included studies were grouped by PKU population comparison. RESULTS: 1185 records were screened; 51 studies across 12,602 individuals were extracted. Bone-related abnormalities were the most reported outcome (n = 21); several outcome measures were used. Original study groupings included: Phe-restricted diet versus healthy controls or reference values (n = 40); treatment-adherent versus those non-adherent (n = 12). Additional groups added as part of a protocol amendment included: different Phe-restricted diets (n = 4); severe versus less severe disease (n = 5). Vote counting indicated a higher burden of ≥ 1 comorbidity (or outcome measure) for the Phe-restricted diet group by 37 of 38 studies included in the analysis of Phe-restricted diet versus healthy controls; higher burden in healthy controls was reported in 12 studies. Vote counting was similar between those treatment adherent (n = 7) versus non-adherent (n = 10). CONCLUSIONS: Adults with PKU have a higher comorbidity burden than a non-PKU population. More robust studies are needed to better understand the relationship between effective metabolic control and comorbidity burden, using consistent outcome measures. This SLR was supported by BioMarin Pharmaceutical Inc., Novato, CA, and is registered with the Research Registry (reviewregistry1476).

  PublisherOA PDFDOI

• Using State Administrative Data to Examine Aspects of Autistic Adult Life: A Comparative Analysis of Identification, Voting, Marriage, and Parenting

  Autism in Adulthood · 2024-11-27 · 1 citations

  article

  Background: Existing outcomes research on autistic adulthood focuses primarily on certain aspects of adult life (e.g., employment) and is limited by methods that are often not representative of whole populations. In the current study, we aimed to use available state administrative data to examine frequencies of receiving state identification, voting, marriage/partnership, and parenting. Methods: In this cross-sectional, population-based study, we accessed Utah state administrative data for 7404 autistic adults born from 1970 to 2002 and matched 1:3 to non-autistic adults ( N = 22,213). We identified proportions of documentation of ever achieving each outcome (state identification, voting, marriage/partnership, parenting) and differences by group, sex, race, ethnicity, and co-occurring intellectual disability. Results: Autistic adults were less likely to have state identification (54.9% vs. 97%, p < 0.001) and to vote (39.4% vs. 51.9%, p < 0.001). However, among only those who had state identification, autistic adults were more likely to vote (55.2% vs. 53.1%, p < 0.05). Autistic males were more likely than autistic females to have state identification and equally likely to vote. Autistic females were more likely than males to be married/partnered and to have offspring. We also observed that married/partnered autistic adults were more likely to divorce than married/partnered non-autistic adults (21.0% vs. 6.1%, p < 0.001). When they had offspring, autistic adults had slightly fewer children on average than non-autistic adults (1.69 vs. 2.00, p < 0.001). There were also racial and ethnic group differences among autistic adults across outcomes. In a subset of the data, individuals with co-occurring intellectual disability were less likely than other autistic Utahns to achieve each studied outcome. Conclusion: We found significant differences, indicating that autistic adults are less engaged in multiple aspects of adulthood than their non-autistic peers. Findings point to the need for efforts to better support autistic adult self-determination and to address barriers to achieving the studied outcomes, when desired by autistic individuals.

  PublisherDOI

• Health Conditions, Education Services, and Transition Planning for Adolescents With Autism

  PEDIATRICS · 2024-03-19 · 7 citations

  articleOpen access

  OBJECTIVE: Our objectives with this study were to describe the frequency of selected cooccurring health conditions and individualized education program (IEP) services and post-high school transition planning for adolescents with autism spectrum disorder and identify disparities by sex, intellectual ability, race or ethnicity, and geographic area. METHODS: The study sample included 1787 adolescents born in 2004 who were identified as having autism through a health and education record review through age 16 years in 2020. These adolescents were part of a longitudinal population-based surveillance birth cohort from the Autism and Developmental Disabilities Monitoring Network from 2004 to 2020 in 5 US catchment areas. RESULTS: Attention deficit hyperactivity disorder (47%) and anxiety (39%) were the most common cooccurring health conditions. Anxiety was less commonly identified for those with intellectual disability than those without. It was also less commonly identified among Black adolescents compared with White or Hispanic adolescents. There was wide variation across Autism and Developmental Disabilities Monitoring Network sites in the provision of school-based IEP services. Students with intellectual disability were less likely to receive school-based mental health services and more likely to have a goal for postsecondary independent living skills compared with those without intellectual disability. A total of 37% of students did not participate in standardized testing. CONCLUSIONS: We identified disparities in the identification of cooccurring conditions and school-based IEP services, practices, and transition planning. Working with pediatric health and education providers, families, and adolescents with autism will be important to identify contributing factors and to focus efforts to reduce disparities in the supports and services adolescents with autism have access to and receive.

  PublisherOA PDFDOI

Recent grants

• ENHANCING THE CAPACITY OF THE UTAH REGISTRY OF AUTISM AND DEVELOPMENTAL DISABILIT

  NIH · $2.2M · 2010–2015

Frequent coauthors

• Amanda V. Bakian

  Huntsman Cancer Institute

  49 shared

• Walter Zahorodny

  Rutgers New Jersey Medical School

  26 shared

• Michelle M. Hughes

  Centers for Disease Control and Prevention

  20 shared

• William M. McMahon

  Huntsman Cancer Institute

  18 shared

• Maureen S. Durkin

  University of Wisconsin–Madison

  17 shared

• Hilary Coon

  Huntsman Cancer Institute

  14 shared

• Sydney Pettygrove

  University of Arizona

  14 shared

• Matthew J. Maenner

  National Center on Birth Defects and Developmental Disabilities

  14 shared

Education

• M.D.

  University of Utah

• Other

  Triple board residency program (Pediatrics, General Psychiatry, Child & Adolescent Psychiatry)

• Other

  Utah Regional Leadership Education in Neurodevelopmental and Related Disabilities (URLEND)