Autism spectrum disorder (ASD) is a devastating and common neurodevelopmental disorder and a major public health concern. Fragile X syndrome is the leading known genetic cause of autism, and both fragile X syndrome and the FMR1 premutation are highly associated with autism with ~70% and ~20% meeting DSM- criteria respectively. This proposal extends our initial study, Emergence and Stability of Autism in Fragile X, focused on behavioral symptoms and biomarkers of ASD risk in infants with fragile X syndrome and fragile X premutation at 6,9,12 and 24 months contrasted to siblings of children with idiopathic ASD and typical controls. This proposal represents longitudinal surveillance at 3, 4 and 5 years-of-age in our cohort of 158 infant participants. Our initial findings have fueled a new set of questions to enhance our knowledge of the emergence of ASD features, diagnoses and associated features in FXS and FXpm, including the prevalence and stability of ASD diagnoses FXpm, the stability of ASD core features focused across a continuum, the association of atypical attention and social fear as additive or independent associated features and the predictive value of infant-derived prodromal features to ASD diagnoses across preschool.

Public Health Relevance

Autism is a Devastating and Common Developmental Disorder that is a Major Public Health Concern. Fragile X syndrome is the leading known genetic cause of autism, and both FXS and the FMR1 premutation are highly associated with autism. There is considerable interest in studying the association of FX-disorders contrasted to idiopathic autism spectrum disorder due to the clinical consequences of their co-occurrence in FX and implications for increased understanding of ASD.

Agency
National Institute of Health (NIH)
Institute
National Institute of Mental Health (NIMH)
Type
Research Project (R01)
Project #
5R01MH090194-08
Application #
9435160
Study Section
Child Psychopathology and Developmental Disabilities Study Section (CPDD)
Program Officer
Gilotty, Lisa
Project Start
2011-05-27
Project End
2021-02-28
Budget Start
2018-03-01
Budget End
2019-02-28
Support Year
8
Fiscal Year
2018
Total Cost
Indirect Cost
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
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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
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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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