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.

Agency
National Institute of Health (NIH)
Institute
National Institute of Mental Health (NIMH)
Type
Research Project (R01)
Project #
5R01MH090194-04
Application #
8622217
Study Section
Behavioral Genetics and Epidemiology Study Section (BGES)
Program Officer
Gilotty, Lisa
Project Start
2011-05-27
Project End
2016-02-29
Budget Start
2014-05-21
Budget End
2015-02-28
Support Year
4
Fiscal Year
2014
Total Cost
$358,000
Indirect Cost
$108,000
Name
University of South Carolina at Columbia
Department
Psychology
Type
Schools of Arts and Sciences
DUNS #
041387846
City
Columbia
State
SC
Country
United States
Zip Code
29208
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
Klusek, Jessica; LaFauci, Giuseppe; Adayev, Tatyana et al. (2017) Reduced vagal tone in women with the FMR1 premutation is associated with FMR1 mRNA but not depression or anxiety. J Neurodev Disord 9:16
Hogan, Abigail L; Caravella, Kelly E; Ezell, Jordan et al. (2017) Autism Spectrum Disorder Symptoms in Infants with Fragile X Syndrome: A Prospective Case Series. J Autism Dev Disord 47:1628-1644
Hahn, Laura J; Brady, Nancy C; McCary, Lindsay et al. (2017) Early social communication in infants with fragile X syndrome and infant siblings of children with autism spectrum disorder. Res Dev Disabil 71:169-180
Belardi, Katie; Watson, Linda R; Faldowski, Richard A et al. (2017) A Retrospective Video Analysis of Canonical Babbling and Volubility in Infants with Fragile X Syndrome at 9-12 Months of Age. J Autism Dev Disord 47:1193-1206
Guy, Maggie W; Richards, John E; Tonnsen, Bridgette L et al. (2017) Neural correlates of face processing in etiologically-distinct 12-month-old infants at high-risk of autism spectrum disorder. Dev Cogn Neurosci :
Roberts, Jane E; Tonnsen, Bridgette L; McCary, Lindsay M et al. (2016) Trajectory and Predictors of Depression and Anxiety Disorders in Mothers With the FMR1 Premutation. Biol Psychiatry 79:850-857
Grefer, M; Flory, K; Cornish, K et al. (2016) The emergence and stability of attention deficit hyperactivity disorder in boys with fragile X syndrome. J Intellect Disabil Res 60:167-78
Roberts, Jane E; Tonnsen, Bridgette L; McCary, Lindsay M et al. (2016) Brief Report: Autism Symptoms in Infants with Fragile X Syndrome. J Autism Dev Disord 46:3830-3837

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