Autistic disorder in Noonan syndrome.
Autism can hide inside Noonan syndrome, so screen every patient and interpret results with developmental context.
01Research in Context
What this study did
Dougherty et al. (1994) wrote up one patient. The child had Noonan syndrome and also met criteria for autism.
They used regular autism checklists. The goal was to show that both conditions can live in the same kid.
What they found
The checklists flagged clear autism traits. The authors said, "Screen every Noonan patient for autism."
No fancy numbers were given. The point was simple: do not miss the second diagnosis.
How this fits with other research
Crane et al. (2016) later tested a whole Finnish cohort. They proved that kids with genetic syndromes get autism far more often than matched peers. The single case from 1994 was no fluke.
Schwichtenberg et al. (2013) counted 19 % of Down syndrome children who also met ASD cut-off. Godfrey et al. (2019) then showed those DS+ASD kids have their own symptom profile. Together they turn the 1994 warning into a map: expect autism, but watch for syndrome-specific shapes.
Trillingsgaard et al. (2004) sounded a small alarm. In Angelman syndrome, most kids hit ASD cut-off, yet the behaviors may stem from severe delay rather than "true" autism. So screen, but interpret scores with mental age in mind.
Why it matters
Next time you assess a child with Noonan, pull out your autism tools as a habit. If scores are high, zoom out: check mental age, look for syndrome-specific quirks, and write goals that fit the whole picture. One extra step can move the child from missed to properly served.
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02At a glance
03Original abstract
Few reports have described the psychiatric co-morbidity of Noonan syndrome. While mental retardation is a common feature of Noonan syndrome, the diagnosis of autism using operational criteria has not been reported. In this paper, the authors describe the association of Noonan syndrome with autism. They propose that the co-morbid diagnosis of autism should be considered during the clinical assessment of persons with Noonan syndrome.
Journal of intellectual disability research : JIDR, 1994 · doi:10.1111/j.1365-2788.1994.tb00349.x