Autism is a severe, neurodevelopmental disorder that often confers a profound burden on autistic individuals, their families, and society.
Research aim ed at uncovering the pathogenesis of this condition may lead to evidence based approaches to prevention or treatment, and is therefore of great importance. Strong evidence supports a genetic etiology in autism, and twin and family studies have also shown that genetic liability appears to be expressed among unaffected relatives of people with autism through features that are milder, but qualitatively similar, to the defining characteristics of autism. This constellation of subclinical language and personality features is commonly referred to as the 'broad autism phenotype'or 'BAP'. Importantly, whereas by definition autism involves serious impairment across all three symptom domains, evidence suggests that such features may decouple and segregate independently in unaffected (with autism) relatives with the BAP. Therefore, studies of relatives of individuals with autism can help to simplify the complex autism phenotype and identify component traits which are more amenable to genetic dissection than the full clinical syndrome. In this study, we focus on defining genetically meaningful language phenotypes among individuals with autism and their relatives, that may be applied in genetic studies. Using a family study design, we propose a detailed psycholinguistic assessment battery for use in families of individuals with autism and controls. This battery of objective, experimentally derived psycholinguistic measures of language processing may produce findings that throw into sharper relief current understanding of key mechanisms underlying the language impairments associated with autism and the BAP. Results will also provide quantitative measures that may be used in genetic studies, and which could be targeted in clinical intervention efforts. With senior coinvestigators with expertise in genetics, we will establish a Biobank including these rich phenotypes and DNA samples from all families that will be used for future genetic studies, and more immediately, to follow up on promising findings sure to emerge from several largescale Genomewide studies of autism underway.

Public Health Relevance

This project aims to identify specific linguistic markers of genetic liability to autism which may be used to illuminate the pathogenesis of autism and its component features. Research aimed at uncovering the pathogenesis of autism may lead to evidence-based approaches to prevention or treatment.

National Institute of Health (NIH)
National Institute on Deafness and Other Communication Disorders (NIDCD)
Research Project (R01)
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Child Psychopathology and Developmental Disabilities Study Section (CPDD)
Program Officer
Cooper, Judith
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Northwestern University at Chicago
Other Health Professions
Schools of Arts and Sciences
United States
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Nayar, Kritika; Gordon, Peter C; Martin, Gary E et al. (2018) Links between looking and speaking in autism and first-degree relatives: insights into the expression of genetic liability to autism. Mol Autism 9:51
Barstein, Jamie; Martin, Gary E; Lee, Michelle et al. (2018) A Duck Wearing Boots?! Pragmatic Language Strategies for Repairing Communication Breakdowns Across Genetically Based Neurodevelopmental Disabilities. J Speech Lang Hear Res 61:1440-1454
Lee, Michelle; Martin, Gary E; Hogan, Abigail et al. (2018) What's the story? A computational analysis of narrative competence in autism. Autism 22:335-344
Losh, Molly; Martin, Gary E; Lee, Michelle et al. (2017) Developmental Markers of Genetic Liability to Autism in Parents: A Longitudinal, Multigenerational Study. J Autism Dev Disord 47:834-845
Martin, Gary E; Barstein, Jamie; Hornickel, Jane et al. (2017) Signaling of noncomprehension in communication breakdowns in fragile X syndrome, Down syndrome, and autism spectrum disorder. J Commun Disord 65:22-34
Lee, Michelle; Bush, Lauren; Martin, Gary E et al. (2017) A Multi-Method Investigation of Pragmatic Development in Individuals With Down Syndrome. Am J Intellect Dev Disabil 122:289-309
Hall, Deborah A; Robertson, Erin; Shelton, Annie L et al. (2016) Update on the Clinical, Radiographic, and Neurobehavioral Manifestations in FXTAS and FMR1 Premutation Carriers. Cerebellum 15:578-86
Klusek, Jessica; Roberts, Jane E; Losh, Molly (2015) Cardiac autonomic regulation in autism and Fragile X syndrome: a review. Psychol Bull 141:141-75
Smith, Matthew J; Fleming, Michael F; Wright, Michael A et al. (2015) Brief report: vocational outcomes for young adults with autism spectrum disorders at six months after virtual reality job interview training. J Autism Dev Disord 45:3364-9
Klusek, Jessica; Martin, Gary E; Losh, Molly (2014) A comparison of pragmatic language in boys with autism and fragile X syndrome. J Speech Lang Hear Res 57:1692-707

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