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Case Reports
. 2023 Sep 1;44(7):e470-e475.
doi: 10.1097/DBP.0000000000001204. Epub 2023 Aug 8.

Fragile X Syndrome and Fetal Alcohol Syndrome: Occurrence of Dual Diagnosis in a Set of Triplets

Ramkumar Aishworiya  1   2   3 , Hazel Maridith Barlahan Biag  1   4 , Maria Jimena Salcedo-Arellano  1   4 , Zayan Musa  1   4 , Andrea Schneider  1   4 , Courtney Clark  1   4 , Ellery Santos  1   4 , Flora Tassone  1   5 , Randi Hagerman  1   4
Affiliations
Case Reports

Fragile X Syndrome and Fetal Alcohol Syndrome: Occurrence of Dual Diagnosis in a Set of Triplets

Ramkumar Aishworiya et al. J Dev Behav Pediatr. .

Abstract

Background: Fragile X syndrome (FXS) and fetal alcohol syndrome disorders are both common causes of intellectual disability in children. When both conditions are present in the same individual, the resultant phenotype may make identification of clinical issues and management challenging.

Case presentation: In this case report, we present a case of triplets who had significant in utero alcohol exposure; 2 of whom also have FXS and the other not having the fragile X mutation. The siblings with FXS have subtle differences in the physical phenotype compared with the other one, who has prominent features of partial fetal alcohol syndrome instead. However, all 3 siblings have intellectual impairment (although this is more severe in the 2 with FXS), meet diagnostic criteria for autism spectrum disorder, and present with severe behavioral challenges. The clinical presentation of the 2 siblings with FXS is much more severe as compared to a child with FXS alone, and this is likely due to the additive effect of in utero alcohol exposure and environmental factors. We discuss the combination of these 2 pathologies and how this can affect the overall clinical presentation.

Conclusion: In the management of children with FXS, evaluation for other risk factors that can have neurobehavioral sequelae is important, and these can affect clinical presentation and prognosis.

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Conflict of interest statement

This research was supported by grants from the NICHD, including HD036071 and the MIND Institute Intellectual and Developmental Disabilities Research Center P50 HD103526. The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. The authors have indicated that they have no conflicts of interest to declare that are relevant to the content of this article.

Figures

Figure 1:
Figure 1:
Photograph of the Triplets, from left to right: Triple 1, Triplet 3, Triplet 2 (Triplet 3 is the one without FXS)
See this image and copyright information in PMC

References

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