Autism Spectrum Disorder in Males with Sex Chromosome Aneuploidy: XXY/Klinefelter Syndrome, XYY, and XXYY.
Nicole R Tartaglia, Rebecca Wilson, Judith S Miller and 5 others
PMID 28333849WHAT IT FOUND
ASD was much more common in males with XYY or XXYY than in XXY/KS, reaching 43% and 52% under DSM-5.
Updating from DSM-IV to DSM-5 raised the overall rate slightly, but the study did not show a clear change.
Key findings
01After DSM-5/ADOS-2 reclassification, ASD rates were 10% in XXY/KS, 43% in XYY, and 52% in XXYY, and XYY and XXYY were higher than XXY/KS.
02In the XYY and XXYY groups, participants with ASD had lower verbal IQ and lower adaptive functioning scores than participants without ASD.
03The overall ASD rate rose from 29.6% under DSM-IV to 35.7% under DSM-5, but this difference was not statistically significant (p=0.44).
STILL TO COME
How it was doneWhat they foundWhat it means for OTsWhat it means for SLPs
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What it does not show
Participants were recruited from clinics and support organizations, and the authors state that ascertainment bias toward more affected individuals remains. The XXY/KS group was small, and the authors excluded it from the analysis of factors related to ASD because few had ASD. The study was not a prospective prenatal birth cohort, so the rates may be higher than in all boys with these chromosome differences. Most participants were Caucasian, and the authors list limited racial and ethnic diversity as a limitation. The ADI-R parent interview was completed only by some participants, so the full diagnostic process was not identical for everyone. The general-population comparison used an external estimate, not a control group in the study. The study evaluated diagnosis, not treatment, so it does not show what therapy works for boys with SCA and ASD.
The easy way to misread this
Do not conclude that DSM-5 and ADOS-2 reclassification clearly increases autism diagnoses in boys with sex chromosome aneuploidy. The overall rate rose slightly, but the study did not show a clear change, and diagnosis depended on team consensus across several measures.