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Updated: Mar 6, 2026

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
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A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

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Autism Spectrum Disorder Symptoms in Infants with Fragile X Syndrome: A Prospective Case Series

Abigail L Hogan1, Kelly E Caravella2, Jordan Ezell2

  • 1Department of Psychology, University of South Carolina, 1512 Pendleton Street, Barnwell College, Suite 220, Columbia, SC, 29208, USA. hogan@sc.edu.

Journal of Autism and Developmental Disorders
|March 11, 2017
PubMed

Insights

Early social-communicative deficits in infants with fragile X syndrome (FXS) may predict autism spectrum disorder (ASD) risk. These early signs in FXS infants resemble those in siblings of children with ASD.

Area of Science:

  • Developmental neuroscience
  • Genetics
  • Clinical psychology

Background:

  • Infants with fragile X syndrome (FXS) have an elevated risk for autism spectrum disorder (ASD).
  • Prospective studies on early ASD markers in infants with FXS are lacking.

Observation:

  • This study tracked the developmental trajectories of eight infants with FXS from 9 to 24 months.
  • Four infants met ASD diagnostic criteria at 24 months; four did not.

Findings:

  • Early social-communicative deficits distinguished infants with and without later ASD diagnoses.
  • These deficits mirrored early signs observed in siblings of children with ASD.
  • Repetitive behaviors and cognitive/adaptive impairments were common in all infants with FXS, indicating a general FXS phenotype.

Implications:

  • Early identification of social-communicative differences in infants with FXS can aid in predicting ASD risk.
  • Findings suggest that core ASD symptoms in FXS may be part of the broader FXS neurodevelopmental profile.
  • Further research can refine early detection and intervention strategies for infants with FXS.

Keywords:
Autism spectrum disorderCase studiesFragile X syndromeInfants

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