Autism is a devastating and common developmental disorder and a major public health concern. Early detection of autism in high risk infants is critical to these children, their families, and the systems that support them. Fragile X syndrome (FXS) is the leading genetic cause of autism, and both FXS and the FMR1 premutation (FXpm) are highly associated with autism. Despite the high association of autism and FMR1 gene mutations, no study has examined early indicators of autism in FXS or FXpm or examined specificity of early autism indicators in FX to idiopathic (non-FX) autism. This application """"""""Emergence and Stability of Autism in Fragile X Syndrome"""""""" proposes a longitudinal prospective study of the early autism features in infants with FXS and FXpm at 9, 12, and 24 in contrast to infants with an older sibling diagnosed with autism (hereafter referred to as """"""""ASIBS"""""""") and typical controls (TD). This application takes advantage of recent scientific advances in the identification of autism in the first 2 years of life, characterization of the FXS and FXpm-autism co-morbidity and findings from developmental neuroscience to identify underlying physiological mechanisms associated with early emerging autistic features (e.g., attention). This work will advance our understanding of the progression of autism features during the key risk transition period for two conditions of major health importance: FX and autism. In this project, we will use a combined behavioral, both standardized and laboratory measures, and biomarker approach focused on autistic behavior as a continuum rather than rigid diagnostic categories.

Public Health Relevance

Autism is a Devastating and Common Developmental Disorder that is a Major Public Health Concern. With a prevalence of ~1:110 (1:70 males) and a cost of $35 billion per year, the early detection of autism in high risk infants is critical to these children, their families and the systems that support them.

National Institute of Health (NIH)
National Institute of Mental Health (NIMH)
Research Project (R01)
Project #
Application #
Study Section
Behavioral Genetics and Epidemiology Study Section (BGES)
Program Officer
Gilotty, Lisa
Project Start
Project End
Budget Start
Budget End
Support Year
Fiscal Year
Total Cost
Indirect Cost
University of South Carolina at Columbia
Schools of Arts and Sciences
United States
Zip Code
Tonnsen, Bridgette L; Richards, John E; Roberts, Jane E (2018) Heart rate-defined sustained attention in infants at risk for autism. J Neurodev Disord 10:7
Klusek, Jessica; Ruber, Alexis; Roberts, Jane E (2018) Impaired eye contact in the FMR1 premutation is not associated with social anxiety or the broad autism phenotype. Clin Neuropsychol 32:1337-1352
Matherly, Sara M; Klusek, Jessica; Thurman, Angela J et al. (2018) Cortisol profiles differentiated in adolescents and young adult males with fragile X syndrome versus autism spectrum disorder. Dev Psychobiol 60:78-89
Robinson, Marissa; Klusek, Jessica; Poe, Michele D et al. (2018) The Emergence of Effortful Control in Young Boys With Fragile X Syndrome. Am J Intellect Dev Disabil 123:89-102
Klusek, Jessica; Porter, Anna; Abbeduto, Leonard et al. (2018) Curvilinear Association Between Language Disfluency and FMR1 CGG Repeat Size Across the Normal, Intermediate, and Premutation Range. Front Genet 9:344
Adlof, Suzanne M; Klusek, Jessica; Hoffmann, Anne et al. (2018) Reading in Children With Fragile X Syndrome: Phonological Awareness and Feasibility of Intervention. Am J Intellect Dev Disabil 123:193-211
Guy, Maggie W; Richards, John E; Tonnsen, Bridgette L et al. (2018) Neural correlates of face processing in etiologically-distinct 12-month-old infants at high-risk of autism spectrum disorder. Dev Cogn Neurosci 29:61-71
Caravella, Kelly E; Roberts, Jane E (2017) Adaptive Skill Trajectories in Infants with Fragile X Syndrome Contrasted to Typical Controls and Infants at High Risk for Autism. Res Autism Spectr Disord 40:1-12
Klusek, Jessica; Schmidt, Joseph; Fairchild, Amanda J et al. (2017) Altered sensitivity to social gaze in the FMR1 premutation and pragmatic language competence. J Neurodev Disord 9:31
Lowell, E P; Tonnsen, B L; Bailey, D B et al. (2017) The effects of optimism, religion, and hope on mood and anxiety disorders in women with the FMR1 premutation. J Intellect Disabil Res 61:916-927

Showing the most recent 10 out of 39 publications