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.

Agency
National Institute of Health (NIH)
Institute
National Institute on Deafness and Other Communication Disorders (NIDCD)
Type
Research Project (R01)
Project #
5R01DC010191-06
Application #
8606119
Study Section
Child Psychopathology and Developmental Disabilities Study Section (CPDD)
Program Officer
Cooper, Judith
Project Start
2010-02-01
Project End
2015-01-31
Budget Start
2014-02-01
Budget End
2015-01-31
Support Year
6
Fiscal Year
2014
Total Cost
$288,618
Indirect Cost
$64,816
Name
Northwestern University at Chicago
Department
Other Health Professions
Type
Schools of Arts and Sciences
DUNS #
160079455
City
Evanston
State
IL
Country
United States
Zip Code
60201
Klusek, Jessica; Roberts, Jane E; Losh, Molly (2015) Cardiac autonomic regulation in autism and Fragile X syndrome: a review. Psychol Bull 141:141-75
Klusek, J; Martin, G E; Losh, M (2014) Consistency between research and clinical diagnoses of autism among boys and girls with fragile X syndrome. J Intellect Disabil Res 58:940-52
Klusek, Jessica; Losh, Molly; Martin, Gary E (2014) Sex differences and within-family associations in the broad autism phenotype. Autism 18:106-16
Losh, Molly; Gordon, Peter C (2014) Quantifying narrative ability in autism spectrum disorder: a computational linguistic analysis of narrative coherence. J Autism Dev Disord 44:3016-25
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
Hogan-Brown, Abigail L; Losh, Molly; Martin, Gary E et al. (2013) An investigation of narrative ability in boys with autism and fragile X syndrome. Am J Intellect Dev Disabil 118:77-94
Martin, Gary E; Losh, Molly; Estigarribia, Bruno et al. (2013) Longitudinal profiles of expressive vocabulary, syntax and pragmatic language in boys with fragile X syndrome or Down syndrome. Int J Lang Commun Disord 48:432-43