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Brief Report: Autism Symptoms in Infants with Fragile X Syndrome

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Abstract

Fragile X syndrome (FXS) is the most common known genetic cause of autism spectrum disorder (ASD). Although 50–75 % of children with FXS meet ASD criteria, no studies have compared ASD symptoms in infants with FXS versus other high risk groups, such as siblings of children with ASD (ASIBs). Using the Autism Observation Scale for Infants, our findings indicate that 53 % of 12-month infants with FXS fall in the “at risk” category compared to 17 and 6 % for age-matched ASIBs and controls, respectively. Elevated atypical motor behaviors were associated with elevated risk for FXS. Cross-syndrome comparisons are essential to understanding the heterogeneity of ASD and identifying candidate markers that will facilitate differential diagnosis of ASD in genetic disorders such as FXS.

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Acknowledgment

We thank our families for their participation. This work was funded by the National Institute of Mental Health (R01MH090194, F31MH095318).

Author Contributions

JR conceived and designed the study and led drafting of the manuscript, BT participated in the design and analysis of the data, LM participated in the design and coordination of the study, KC participated in the design and coordination of the study, SS participated in the design and analysis of the data. All authors participated in drafting the manuscript and read and approved the final manuscript.

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Correspondence to Jane E. Roberts.

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Roberts, J.E., Tonnsen, B.L., McCary, L.M. et al. Brief Report: Autism Symptoms in Infants with Fragile X Syndrome. J Autism Dev Disord 46, 3830–3837 (2016). https://doi.org/10.1007/s10803-016-2903-5

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