Fragile X Syndrome and Fetal Alcohol Syndrome: Occurrence of Dual Diagnosis in a Set of Triplets.
Ramkumar Aishworiya, Hazel Maridith Barlahan Biag, Maria Jimena Salcedo-Arellano and 6 others
PMID 37556593WHAT IT FOUND
Despite equal prenatal alcohol exposure, two identical fragile X triplets had more severe neurobehavioral problems than their fraternal triplet, who met partial fetal alcohol syndrome criteria.
Fragile X features may mask alcohol-related facial signs. It does not test a treatment.
Key findings
01Despite similar in-utero alcohol exposure, the fraternal triplet without fragile X showed facial features consistent with partial fetal alcohol syndrome, unlike the two triplets with fragile X.
02The two triplets with fragile X had high-severity autism, intellectual disability, and extremely low adaptive behavior.
03The fraternal triplet had a normal fragile X allele, mild-severity autism, below-average cognitive ability, and extremely low adaptive behavior.
STILL TO COME
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What it does not show
This is a case report of three children, so it cannot show that any treatment works. The children received speech therapy, occupational therapy, ABA therapy, and several medications at the same time, so the report cannot separate the contribution of any one component. Prematurity, foster instability, neglect, and additional substance exposure may have contributed to delays and behavior. Birth and early history were incomplete, and the reason for removal from maternal care is unknown. No brain imaging was done, so the partial fetal alcohol syndrome diagnosis could change. The two triplets with fragile X were mosaic for a deleted allele, which may alter fragile X protein and phenotype. The article refers to a table and photograph for physical and evaluation details, but those materials are not provided.
Declared interests
The authors declare no conflicts of interest. The publication types list NIH extramural research support.
The easy way to misread this
Do not read this as proof that fragile X prevents fetal alcohol syndrome or that any therapy works. The report describes three children with mixed genetic, prenatal, prematurity, neglect, medication, and therapy factors, and it does not test a treatment.