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Defining the female pragmatic language profile of autism and the broad autism phenotype

Award Number: R01DC022484
ORGANIZATION: NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)
PERIOD OF PERFORMANCE START DATE: 01/08/2025
PERIOD OF PERFORMANCE END DATE: 12/31/2029

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Defining the female pragmatic language profile of autism and the broad autism phenotype - Summary Pragmatic (i.e., social) language impairments are a defining feature of autism spectrum disorder (ASD), which can impose significant burden on individuals throughout the lifespan. Strong evidence also suggests that this clinical domain is influenced by genetic markers associated with ASD in clinically unaffected relatives, constituting a principal component of the broad autism phenotype (BAP). Although sex differences in the development of pragmatic language have been repeatedly demonstrated in the general population, sex-specific differences in pragmatics in ASD and the BAP are woefully understudied, despite mounting evidence of a distinct clinical phenotype among autistic females, and the strong impact of pragmatic skills on clinical outcomes and well-being. Most studies of pragmatics in ASD have included only males or included so few females that they were insufficiently powered to address the potential of sex-specific patterns of pragmatic skills in conversation, narrative, or other crucial social-communication contexts where pragmatic skills play an essential role in social functioning (including vocational success) across the lifespan. In this project, we will apply an armamentarium of deep phenotyping methods to dissect the key features and contributors to the hypothesized sex-specific pragmatic language profiles of ASD and the BAP that extend beyond traditional, categorically-defined diagnostic boundaries, using a family-study design and including a representative ASD cohort enriched for females, ASD parents, and respective control groups. Aim 1 will characterize the pragmatic language profile of females with ASD and related, potentially sex-specific neurocognitive mechanistic skills and psychosocial outcomes. Aim 2 will conduct parallel questions in the BAP. Finally, Aim 3 will estimate the incidence of sex-specific pragmatic profiles of ASD and BAP in the general population via crowdsourced pragmatic phenotyping. Our preliminary studies demonstrate strong evidence for complex sex-specific patterns of pragmatic abilities in ASD that may be comprehensively and sensitively measured with the complement of gold-standard hand-coding methods and advanced fine-grained computational- and machine-learning-based approaches proposed in this project. Together, the rich and extensive data produced will contribute to our understanding of the fine-grained skills underlying the sex-based heterogeneity in ASD, and the mechanistic, potentially sex-specific origins of pragmatics as an important clinical domain. Our findings will move us closer to achieving long-term translational goals to advance understanding of the sex-specific differences in pragmatic language impairment in ASD in order to improve the prediction of clinical outcomes and help guide future interventions and treatment in ASD.


Issue Date FY	Funding FY	Legal Entity Name	Legal Entity Address	Legal Entity City	Legal Entity State	Legal Entity Zip Code	Legal Entity COUNTY	Legal Entity COUNTRY	Assistance Listing	Award Code	Budget Year	Action Date	Action Type	Action Amount

Issue Date FY: 2026 ( Subtotal = $675,624 )
2026	2026	NORTHWESTERN UNIVERSITY	633 CLARK ST	EVANSTON	IL	60208	COOK	USA	Research Related to Deafness and Communication Disorders	001	2	2/11/2026	NON-COMPETING CONTINUATION	$67,562
2026	2026	NORTHWESTERN UNIVERSITY	633 CLARK ST	EVANSTON	IL	60208	COOK	USA	Research Related to Deafness and Communication Disorders	000	2	1/22/2026	NON-COMPETING CONTINUATION	$608,062
														Subtotal = $675,624

Issue Date FY: 2025 ( Subtotal = $708,113 )
2025	2025	NORTHWESTERN UNIVERSITY	633 CLARK ST	EVANSTON	IL	60208	COOK	USA	Research Related to Deafness and Communication Disorders	001	1	3/12/2025	NEW	$0
2025	2025	NORTHWESTERN UNIVERSITY	633 CLARK ST	EVANSTON	IL	60208	COOK	USA	Research Related to Deafness and Communication Disorders	000	1	1/8/2025	NEW	$708,113
														Subtotal = $708,113

Grand Total All Awards = $1,383,737

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Defining the female pragmatic language profile of autism and the broad autism phenotype

Award Number: R01DC022484

ORGANIZATION: NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)

PERIOD OF PERFORMANCE START DATE: 01/08/2025

PERIOD OF PERFORMANCE END DATE: 12/31/2029

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