Autism Spectrum Disorder Associated with 48,XXYY: Case Report of a Rare Clinical Syndrome.

Doctors wrote up one teenage boy who has both autism and 48,XXYY syndrome. They listed his words, play, and social skills to show how the two conditions mix.

The teen met full autism criteria. His biggest struggle was talking; he used only short phrases and echoed questions. Social and play skills looked like classic ASD, just with extra language delay.

Cohen et al. (2005) already warned that rare chromosome disorders can hide inside "regular" autism. Their checklist says to suspect a syndrome when language is far behind other skills—exactly what C et al. saw.

Amaral et al. (2017) found kids with Down-plus-ASD show milder social gaps than idiopathic ASD. The new 48,XXYY case fits that pattern: social signs present, but language is the deepest cut.

Waldron et al. (2023) showed fragile-X kids look at faces more than non-syndromic ASD kids. We don’t yet have eye-tracking for 48,XXYY, so the next step is to check if face attention is another tell-tale difference.

When a client has autism plus very poor expressive language, think syndromal. Add a genetics referral to your assessment plan. Target speech first; the social goals that work for idiopathic ASD may still apply, but you’ll need extra language support and perhaps different play cues.