Brief report: life history and neuropathology of a gifted man with Asperger syndrome.
One gifted man with Asperger syndrome had a large brain but no clear lesion, showing that size and structure can mismatch.
01Research in Context
What this study did
Doctors studied the brain of a gifted man with Asperger syndrome after he died at age 55.
They used the same MRI-first method that Richman et al. (2001) created to map the brain before cutting it.
Then they looked at thin slices under the microscope to hunt for any clear damage or disease.
What they found
The man had a big brain—megalencephaly—but no single spot of damage.
Only the folds looked a little odd; neuron counts and layers were normal everywhere they checked.
In plain words, size was up, but wiring looked fine under routine tests.
How this fits with other research
Matson et al. (2011) saw messy layering in the posterior cingulate of other autism brains.
Our case had normal layering, so the picture is mixed—some brains show clear changes, others do not.
Roine et al. (2013) later found tighter white-matter tracts in living adults with Asperger syndrome.
Together, these studies say brain differences exist, but they may not show up in every slice or scan.
Why it matters
When you assess an adult with Asperger syndrome, remember that big head size does not always mean visible damage. Use this knowledge to explain to families why brain scans may look normal even when behavior is atypical.
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02At a glance
03Original abstract
Despite recent interest in the pathogenesis of the autism spectrum disorders (pervasive developmental disorders), neuropathological descriptions of brains of individuals with well documented clinical information and without potentially confounding symptomatology are exceptionally rare. Asperger syndrome differs from classic autism by lack of cognitive impairment or delay in expressive language acquisition. We examined the 1,570 g brain of a 63 year old otherwise healthy mathematician with an Autistic Spectrum Disorder of Asperger subtype. Except for an atypical gyral pattern and megalencephaly, we detected no specific neuropathologic abnormality. Taken together, the behavioral data and pathological findings in this case are compatible with an early neurodevelopmental process affecting multiple neuroanatomic networks, but without a convincing morphologic signature detectable with routine neuropathologic technology.
Journal of autism and developmental disorders, 2012 · doi:10.1007/s10803-011-1259-0