Autism Spectrum Disorder Symptoms in Infants with Fragile X Syndrome: A Prospective Case Series
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No studies to date have prospectively examined early autism spectrum disorder (ASD) markers in infants with fragile X syndrome (FXS), who are at elevated risk for ASD. This paper describes the developmental profiles of eight infants with FXS from 9 to 24 months of age. Four meet diagnostic criteria for ASD at 24 months of age, and four do not. Trends in these case studies suggest that early social-communicative deficits differentiate infants with and without later ASD diagnoses in ways that are similar to later-born siblings of children with ASD. Repetitive behaviors and cognitive and adaptive impairments are present in all FXS infants throughout development, suggesting that these deficits reflect the general FXS phenotype and not ASD in FXS specifically.
KeywordsFragile X syndrome Autism spectrum disorder Infants Case studies
The authors are grateful to the families who participated in this research. Special thanks to John Colombo for his thoughtful feedback on an earlier draft of this manuscript. This research was funded by the National Institute of Mental Health (R01MH107573; R01MH090194; PI: Roberts).
AH participated in the design and coordination of the study, performed the statistical analyses, and drafted the manuscript; KC compiled data and drafted the case summaries; LR and JE assisted with drafting the manuscript; KH led the clinical diagnostic procedures and contributed to the case summaries. JR conceived of the study and assisted with drafting the manuscript. All authors read and approved the final manuscript.
Compliance with Ethical Standards
Research involving animal and human rights
All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.
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