Cerebral cortex maldevelopment in syndromic craniosynostosis.
Alexander T Wilson, Bianca K Den Ottelander, Marie-Lise C Van Veelen and 5 others
PMID 34265076WHAT IT FOUND
Children with FGFR-related craniosynostosis had larger brain volumes than controls, but their cortical surface area did not scale proportionally.
This mismatch was most severe in the parietal and occipital lobes. Almost all patients requiring modified education belonged to this FGFR group.
Key findings
01Patients with FGFR mutations had significantly larger intracranial volumes compared to controls, while those with TWIST1 mutations did not.
02Despite larger brain volumes, patients with FGFR mutations showed reduced scaling of cortical surface area to intracranial volume, particularly in the parietal and occipital lobes.
03All but one patient requiring modified education were from the FGFR group, with the majority of Apert syndrome patients needing this support due to motor or intellectual disability.
STILL TO COME
How it was doneWhat they foundWhat it means for PTsWhat it means for OTsWhat it means for SLPs
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What it does not show
The study is retrospective and cross-sectional in nature for many participants, with serial MRI scans not available for every patient, limiting the ability to track longitudinal cortical maturation. Four MRI scans were excluded as outliers due to very low intracranial volumes, which altered the mean values for the TWIST1 and control groups. Detailed neuropsychological testing was not available for the cohort; functional outcomes were assessed indirectly via educational placement data, which may not capture subtle cognitive deficits. The control group consisted of patients referred for MRI due to non-neurological issues (e.g., headache, trauma), which may introduce selection bias compared to a general population sample.
Declared interests
The authors declare no competing interests. The study was approved by the Erasmus University Medical Center Ethics Board and is part of ongoing work at the Dutch Craniofacial Center.
The easy way to misread this
Do not interpret the larger intracranial volume in FGFR patients as a sign of better brain development. The study shows that despite having more space, the cortical surface area is underdeveloped relative to volume, which is associated with worse educational outcomes.