Autistic-Like Traits in Pena-Shokeir Syndrome.
Even when severe birth defects dominate the chart, still screen for autism.
01Research in Context
What this study did
Doctors wrote up one child with Pena-Shokeir syndrome.
The child also showed signs of autism.
No treatment was tested; the team just described what they saw.
What they found
The child had stiff joints, small chin, and feeding tubes.
The same child lined up toys, avoided eye contact, and repeated words.
These behaviors met autism criteria even though the main diagnosis was Pena-Shokeir.
How this fits with other research
Mammarella et al. (2022) and Artemios et al. (2019) each tell a similar story.
They each report one patient with a rare genetic syndrome who also meets ASD criteria.
Together the papers build a rule: look for autism any time a child has a complex genetic condition.
Moss et al. (2009) review seven such syndromes and say the same thing in larger form.
The case reports extend the review by adding Pena-Shokeir to the list.
Why it matters
When a child has many medical tubes and braces, it is easy to miss social quirks.
This paper reminds you to run an autism screen anyway.
If the score is high, start ABA while the medical team handles the physical issues.
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02At a glance
03Original abstract
Pena-Shokeir syndrome (PSS) is a rare, early lethal disease. PSS is characterized by fetal growth restriction, craniofacial deformities, multiple ankyloses and pulmonary hypoplasia. Because of the primary concern of physical health problems, psychiatric evaluation is frequently underestimated in PSS patients. Our case report describes a child with PSS who presented with autistic spectrum disorder symptoms.
Journal of autism and developmental disorders, 2019 · doi:10.1007/s10803-018-3824-2