Neuroanatomical underpinnings of autism symptomatology in carriers and non-carriers of the 22q11.2 microdeletion.
Maria Gudbrandsen, Anke Bletsch, Caroline Mann and 10 others
PMID 32513259WHAT IT FOUND
Brain scans showed autism symptoms in 22q11.2 deletion carriers related to different brain structure patterns than autism without deletion.
The same symptoms did not map onto the same anatomy.
Key findings
01Autism symptoms in 22q11.2 deletion carriers were linked to different cortical volume and surface area patterns than autism without the deletion.
02When autism symptoms were measured on a continuum, the clinical symptom structure was similar in deletion carriers and non-carriers, but the brain regions linked to those symptoms differed.
03People with the 22q11.2 deletion had lower total brain volume and total surface area than people with idiopathic autism or typical development.
STILL TO COME
How it was doneWhat they foundWhat it means for SLPs
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What it does not show
The sample was small for brain imaging, with 25 deletion carriers with autism, 25 deletion carriers without autism, 40 non-deletion autism individuals, and 41 controls. Groups came from three sites, and the idiopathic autism group came only from Frankfurt, so site differences may matter even after adjustment. The non-deletion autism group was not genetically tested for 22q11.2 deletion or other copy number variations; screening relied on physical features. The age range was wide, from 6 to 25, so developmental changes in brain and symptoms are not fully separated. Autism symptoms were summarized by the Social Responsiveness Scale, which the authors note does not provide a comprehensive clinical picture. The deletion autism group did not all meet the repetitive behavior cutoff used for autism diagnosis, and repetitive symptoms differed between autism groups. The paper reports group-level anatomy differences and did not test therapy outcomes.
Declared interests
Funding was provided by the National Institute of Mental Health and Deutsche Forschungsgemeinschaft.
The easy way to misread this
Do not use these brain differences to decide a patient's speech, occupational, or physical therapy. The study found group-level anatomy differences, not tested interventions.