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Principal Investigator: Allison Elizabeth Jack
Organization: UNIVERSITY OF VIRGINIA
Fiscal Year: 2024
Award: $2,446,210
Funding agency: National Institute of Mental Health
Project Summary
Many people with autism spectrum disorder (ASD) are late- or never diagnosed (LDx). Initial data links female
sex to LDx. Gender diversity is also overrepresented in ASD and associated with LDx. Autistic people assigned
female at birth (ASDaF) and those who are gender diverse (ASDgd) experience increased psychiatric
comorbidity, and, in the case of ASDgd, suicidality. LDx is associated with increased depression, anxiety and
self-harm and limits access to supports, increasing vulnerability to abuse. Obstacles to timely diagnosis (Dx) of
ASDaF may involve individual-level biobehavioral differences, including fewer unusual restricted/repetitive
behaviors (RRBs), and strengths in social motivation, executive function and/or intelligence. Contextual factors,
such as the predominance of young-cisgender-male conceptualizations of ASD in referral patterns and clinical
diagnosis, also play a key role. Our goal is to integrate qualitative, quantitative, and artificial intelligence methods
to identify contextual and biobehavioral predictors of LDx, leading to the development of a practicable screening
measure for those at LDx risk. To illuminate mechanisms of LDx (1st ASD Dx > 12y) we will build on three legacies
of our decade-long longitudinal ACE Network: 1) a sex-balanced, deeply phenotyped, longitudinal cohort of
autistic youth & young adults; 2) a gender characterization method validated in ASD—the Gender Self-Report
Scale (GSRS)—to quantify gender identity (binary and nonbinary) characteristics beyond assigned sex; and 3)
a collaboration with autistic co-researchers to engage community-based participants to develop a self-report
tool—the Self-Assessment of Autistic Traits (SAAT)—that captures the lived experience of ASD, including
strengths. We will recruit a sex-balanced community-based sample of autistic people (ages 16-30y) to augment
our longitudinal ACE cohort with two critical subgroups: LDx and ASDgd individuals. We will use intentional
sampling and equitable inclusion across assigned sex, gender and gender diversity, ethno-racial identity, and
LDx individuals with ASD. Using a mixed-methods approach, we will identify markers of LDx and examine the
interplay between sex and gender in Dx timing and well-being outcomes. A sex, gender, and ethnoracially diverse
stakeholder team of clinicians, self-advocates, autistic people, and parents, all with professional and/or lived
experience with LDx ASD, will guide us as we: 1. Identify sex, gender, cognitive, and behavioral differences
between timely (TDx) and LDx autistic people. 2. Develop and validate a self-report ASD screening measure as
a diagnostic access point for adolescents/adults at risk for LDx. 3. Develop a personalized approach to
biobehavioral marker extraction for classification of diagnostic timing (LDx vs. TDx) and prediction of QoL indices,
using an innovative artificial intelligence approach to integrate multimodal neuroimaging data with phenotypic
information. We will improve research and clinical practice by accelerating identification of adolescents and
adults with ASD who have traditionally been missed or misdirected in the diagnostic process. This work will
accelerate ASD Dx in the community, allowing for appropriate supports and improved outcomes.
Terms: <21+ years old><AI based method><AI system><ASD><Acceleration><Adolescent><Adolescent Youth><Adult><Adult Human><Advocate><Age><Anxiety><Application Context><Area><Artificial Intelligence><Autism><Autism Diagnosis><Autistic Disorder><Behavioral><Biological Markers><Characteristics><Classification><Cognitive><Collaborations><Communities><Computer Reasoning><Data><Data Bases><Data Set><Databases><Deliberate Self-Harm><Development><Diagnosis><Diagnostic><Differences between sexes><Differs between sexes><Early Diagnosis><Early Infantile Autism><Elements><Equity><Examinations and Diagnoses><Exhibits><Female><Gender><Gender Identity><General Population><General Public><Goals><Groups at risk><Individual><Infantile Autism><Intelligence><Intervention><Intervention Strategies><Interview><Investigation><Investigators><Kanner's Syndrome><Learning><Link><Lived experience><Lived experiences><Long-term cohort><Longitudinal cohort><Longterm cohort><MR Imaging><MR Tomography><MRI><MRIs><Machine Intelligence><Magnetic Resonance Imaging><Measures><Medical Imaging, Magnetic Resonance / Nuclear Magnetic Resonance><Mental Depression><Mental Health><Mental Hygiene><Methods><Modeling><Moods><Motivation><NMR Imaging><NMR Tomography><Nuclear Magnetic Resonance Imaging><Outcome><PTSD><Parents><Participant><Patient Self-Report><Pattern><People at risk><Performance><Personal Satisfaction><Personalized medical approach><Persons><Persons at risk><Phenotype><Play><Population><Populations at Risk><Post-Traumatic Neuroses><Post-Traumatic Stress Disorders><Posttraumatic Neuroses><Prevention><Process><Psychological Health><QOL><Quality of life><Reporting><Research><Research Personnel><Researchers><Rest><Risk><Risk Factors><Sampling><Screening procedure><Self Assessment><Self-Injurious Behavior><Self-Report><Sex Differences><Sexual differences><Speed><Subgroup><Symptoms><Systematics><Time><Training><Validation><Work><Youth><Youth 10-21><Zeugmatography><adolescent with ASD><adolescent with autism><adolescent with autism spectrum disorder><adolescents on the autism spectrum><adult with ASD><adult with autism><adult with autism spectrum disorder><adult youth><adulthood><adults on the autism spectrum><adults on the spectrum><ages><artificial intelligence method><assigned female at birth><assigned female gender at birth><assigned female sex at birth><autism attributes><autism indicator><autism spectral disorder><autism spectrum disorder><autism spectrum disorder features><autism spectrum disorder indicator><autism spectrum disorder symptoms><autism symptomology><autism symptoms><autism-like symptoms><autism-related attributes><autistic><autistic adolescent><autistic adult><autistic features><autistic individuals><autistic people><autistic spectrum disorder><autistic symptoms><autistic traits><autistic youth><autistic-like symptoms><bio-markers><biobehavior><biobehavioral><biologic marker><biomarker><biomarker identification><cis-gender><cisgender><clinical diagnosis><clinical practice><co-morbid><co-morbidity><cohort><community engagement><comorbidity><comparing females and males><comparing women and men><contextual factors><data base><deep learning><deep learning method><deep learning strategy><deliberate self harm><depression><developmental><diagnosis among females><diagnosis among women><diagnosis in females><diagnosis in women><diagnosis within females><diagnosis within women><early detection><engagement with communities><ethnoracial><executive control><executive function><experience><female diagnosis><females compared to males><females compared with males><females versus males><females vs males><gender assigned><gender diverse><gender diversity><identification of biomarkers><identification of new biomarkers><image-based method><imaging method><imaging modality><improved><improved outcome><indexing><individualized approach><individuals on the autism spectrum><individuals on the spectrum><individuals with ASD><individuals with autism><individuals with autism spectrum disorder><innovate><innovation><innovative><intentional self harm><intentional self injury><interest><interventional strategy><juvenile><juvenile human><male><marker identification><multi-modal neuro-imaging><multi-modal neuroimaging><multimodal neuro-imaging><multimodal neuroimaging><neural imaging><neuro-imaging><neuroimaging><neurological imaging><nonbinary><novel><parent><people on the autism spectrum><people with ASD><people with autism><people with autism spectrum disorder><personalized approach><post-trauma stress disorder><posttrauma stress disorder><precision approach><psychiatric co-morbidity><psychiatric comorbidity><recruit><repetitive behavior><screening><screening tools><screenings><self harm><self injury><sex><sex assigned><sex based differences><sex-dependent differences><sex-related differences><sex-specific differences><social><spatiotemporal><suicidal><suicidality><tailored approach><theories><tool><traumatic neurosis><trend><validations><well-being><wellbeing><women compared to men><women compared with men><women versus men><women vs men><women's diagnosis><young adult><young adulthood><youth on the autism spectrum><youth with ASD><youth with autism><youth with autism spectrum disorder>