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A Family-Genetic Study of Language in Autism

Award Number: R01DC010191
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: 09/01/2023
PERIOD OF PERFORMANCE END DATE: 06/30/2028

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A Family-Genetic Study of Language in Autism - Project Summary Pragmatic (i.e., social) language deficits 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 liability to ASD in unaffected relatives, constituting a principal component of the broad autism phenotype (BAP) and linked with increased polygenic risk for ASD in unaffected relatives. Pragmatic language features of ASD also show significant overlap with phenotypes observed in carriers of FMR1 mutations, implicating this highly penetrant ASD risk gene in the pragmatic language phenotype of ASD in particular. The pragmatic language domain is therefore not only highly clinically significant in ASD, but also sensitive to underlying ASD genetic liability, making this skill an important target for understanding the biological origins of ASD and its component features, with potentially important clinical applications. In this competing renewal, we will apply innovative deep phenotyping methods and an armamentarium of complementary analytic platforms to dissect the contributors to pragmatic language impairments in ASD and their biological basis. Using a family-study design and including a representative ASD cohort enriched for girls, ASD parents, and respective control groups, we will characterize ASD-related pragmatic profiles that extend beyond traditional, categorically- defined diagnostic boundaries, which may be linked with distinct neural signatures and molecular genetic variation. Aim 1 will apply both hypothesis- and data-driven analytic approaches to analyze a comprehensive battery assessing component skills contributing to pragmatic impairments in ASD, and subclinical pragmatic differences in the BAP among parents. Aim 2 will employ a battery of targeted electrophysiological measures to examine potential neural correlates of pragmatic impairment in ASD and the BAP. Finally, Aim 3 will evaluate the relationship between behavioral and neural phenotypic signatures obtained in Aims 1 and 2, respectively, and FMR1-related genetic variation. Our preliminary studies demonstrated a complex network of skills contributing to pragmatic impairments in ASD that may be sensitively measured with the advanced fine-grained computational- and machine-learning-based approaches proposed in this project, with compelling ties to neurophysiological and molecular genetic correlates that will be measured in this project. Together, the rich and extensive data produced will contribute to the understanding of the fine-grained skills that contribute to the heterogeneity in ASD, and the mechanistic and biological origins of this important clinical domain. Our findings will move us closer to achieving our long-term translational goal: to advance our understanding of the causes of the pragmatic language impairment in ASD in order to improve 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: 2025 ( Subtotal = $657,761 )
2025	2025	NORTHWESTERN UNIVERSITY	633 CLARK ST	EVANSTON	IL	60208	COOK	USA	Research Related to Deafness and Communication Disorders	000	14	7/15/2025	NON-COMPETING CONTINUATION	$657,761
														Subtotal = $657,761

Issue Date FY: 2024 ( Subtotal = $653,055 )
2024	2024	NORTHWESTERN UNIVERSITY	633 CLARK ST	EVANSTON	IL	60208	COOK	USA	Research Related to Deafness and Communication Disorders	001	13	7/4/2024	NON-COMPETING CONTINUATION	$653,055
2024	2023	NORTHWESTERN UNIVERSITY	633 CLARK STREET	EVANSTON	IL	60208	COOK	USA	Research Related to Deafness and Communication Disorders	000	12	10/27/2023	COMPETING CONTINUATION	$0
														Subtotal = $653,055

Issue Date FY: 2023 ( Subtotal = $711,391 )
2023	2023	NORTHWESTERN UNIVERSITY	633 CLARK STREET	EVANSTON	IL	60208	COOK	USA	Research Related to Deafness and Communication Disorders	001	12	8/29/2023	COMPETING CONTINUATION	$711,391
2023	2020	NORTHWESTERN UNIVERSITY	633 CLARK STREET	EVANSTON	IL	60208	COOK	USA	Research Related to Deafness and Communication Disorders	000	11	3/3/2023	NON-COMPETING CONTINUATION	$0
														Subtotal = $711,391

Issue Date FY: 2020 ( Subtotal = $631,111 )
2020	2020	NORTHWESTERN UNIVERSITY	633 CLARK	EVANSTON	IL	60208	COOK	USA	Research Related to Deafness and Communication Disorders	000	11	8/19/2020	NON-COMPETING CONTINUATION	$631,111
														Subtotal = $631,111

Issue Date FY: 2019 ( Subtotal = $610,717 )
2019	2019	NORTHWESTERN UNIVERSITY	633 CLARK ST EVANSTON	EVANSTON	IL	60208	COOK	USA	Research Related to Deafness and Communication Disorders	000	10	8/8/2019	NON-COMPETING CONTINUATION	$610,717
														Subtotal = $610,717

Issue Date FY: 2018 ( Subtotal = $609,022 )
2018	2018	NORTHWESTERN UNIVERSITY	633 CLARK ST EVANSTON	EVANSTON	IL	60208	COOK	USA	Research Related to Deafness and Communication Disorders	000	9	8/6/2018	NON-COMPETING CONTINUATION	$609,022
														Subtotal = $609,022

Issue Date FY: 2017 ( Subtotal = $655,953 )
2017	2017	NORTHWESTERN UNIVERSITY	633 CLARK ST EVANSTON	EVANSTON	IL	60208	COOK	USA	Research Related to Deafness and Communication Disorders	000	7	11/3/2016	SUPPLEMENT FOR EXPANSION	$7,584
2017	2017	NORTHWESTERN UNIVERSITY	633 CLARK ST EVANSTON	EVANSTON	IL	60208	COOK	USA	Research Related to Deafness and Communication Disorders	001	8	8/23/2017	NON-COMPETING CONTINUATION	$648,369
														Subtotal = $655,953

Issue Date FY: 2016 ( Subtotal = $661,091 )
2016	2016	NORTHWESTERN UNIVERSITY	633 CLARK STREET	EVANSTON	IL	60208	COOK	USA	Research Related to Deafness and Communication Disorders	000	7	9/20/2016	COMPETING CONTINUATION	$661,091
														Subtotal = $661,091

Issue Date FY: 2014 ( Subtotal = $320,687 )
2014	2014	NORTHWESTERN UNIVERSITY	633 CLARK STREET	EVANSTON	IL	60208	COOK	USA	Research Related to Deafness and Communication Disorders	000	6	1/28/2014	NON-COMPETING CONTINUATION	$288,618
2014	2014	NORTHWESTERN UNIVERSITY	633 CLARK STREET	EVANSTON	IL	60208	COOK	USA	Research Related to Deafness and Communication Disorders	001	6	2/12/2014	NON-COMPETING CONTINUATION	$32,069
														Subtotal = $320,687

Issue Date FY: 2013 ( Subtotal = $308,419 )
2013	2013	NORTHWESTERN UNIVERSITY	633 CLARK STREET	EVANSTON	IL	60208	COOK	USA	Research Related to Deafness and Communication Disorders	001	5	5/10/2013	NON-COMPETING CONTINUATION	$16,232
2013	2013	NORTHWESTERN UNIVERSITY	633 CLARK STREET	EVANSTON	IL	60208	COOK	USA	Research Related to Deafness and Communication Disorders	000	5	1/16/2013	NON-COMPETING CONTINUATION	$292,187
														Subtotal = $308,419

Issue Date FY: 2012 ( Subtotal = $391,295 )
2012	2012	NORTHWESTERN UNIVERSITY	633 CLARK STREET	EVANSTON	IL	60208	COOK	USA	Research Related to Deafness and Communication Disorders	001	4	2/2/2012	NON-COMPETING CONTINUATION	$39,128
2012	2012	NORTHWESTERN UNIVERSITY	633 CLARK STREET	EVANSTON	IL	60208	COOK	USA	Research Related to Deafness and Communication Disorders	000	4	1/17/2012	NON-COMPETING CONTINUATION	$352,167
														Subtotal = $391,295

Issue Date FY: 2011 ( Subtotal = $389,948 )
2011	2011	NORTHWESTERN UNIVERSITY	633 CLARK STREET	EVANSTON	IL	60208	COOK	USA	Research Related to Deafness and Communication Disorders	001	3	5/27/2011	NON-COMPETING CONTINUATION	$28,142
2011	2011	NORTHWESTERN UNIVERSITY	633 CLARK STREET	EVANSTON	IL	60208	COOK	USA	Research Related to Deafness and Communication Disorders	000	3	1/6/2011	NON-COMPETING CONTINUATION	$361,806
														Subtotal = $389,948

Issue Date FY: 2010 ( Subtotal = $529,368 )
2010	2010	UNIVERSITY OF NORTH CAROLINA AT CHAPEL HILL	440 WEST FRANKLIN ST, CB #1350	CHAPEL HILL	NC	27599	ORANGE	USA	Research Related to Deafness and Communication Disorders	000	1	1/15/2010	NEW	$529,368
2010	2010	UNIVERSITY OF NORTH CAROLINA AT CHAPEL HILL	440 WEST FRANKLIN ST, CB #1350	CHAPEL HILL	NC	27599	ORANGE	USA	Research Related to Deafness and Communication Disorders	002	1	9/17/2010	NEW	-$321,304
2010	2010	NORTHWESTERN UNIVERSITY	633 CLARK STREET	EVANSTON	IL	60208	COOK	USA	Research Related to Deafness and Communication Disorders	001	2	9/17/2010	CHANGE OF GRANTEE / TRAINING INSTITUTION / AWARDING INSTITUTION	$321,304
2010	2010	NORTHWESTERN UNIVERSITY	633 CLARK STREET	EVANSTON	IL	60201	COOK	USA	Research Related to Deafness and Communication Disorders	003	2	9/22/2010	CHANGE OF GRANTEE / TRAINING INSTITUTION / AWARDING INSTITUTION	$0
														Subtotal = $529,368

Grand Total All Awards = $7,129,818

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A Family-Genetic Study of Language in Autism

Award Number: R01DC010191

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: 09/01/2023

PERIOD OF PERFORMANCE END DATE: 06/30/2028

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