Abstract
Objective: The aim of this study was to determine if adult males with isolated defts of the lip and/or palate (CLP) have aberrant cerebral morphology and/or cognitive dysfunction. Brain morphology (using MRI) and performance on a battery of cognitive tasks in a sample of 50 males with isolated CLP were analyzed and compared to 50 healthy controls matched for sex, age, and parental socioeconomic status.
Results: The males with CLP have significantly lower full scale (p=0.000), verbal (p=0.000), and performance (p=0.000) Intelligence Quotients (IQ). After controlling for full scale IQ, subjects had a significant deficit in a language production task (p=0.001), but no deficit in a visuospatial task (p=0.237). In regard to brain morphology, CLP subjects had a robust anterior to posterior tissue distribution shift. That is, CLP patients had significantly larger than normal frontal and parietal lobes, but significantly smaller than normal temporal lobes, occitipal lobes and cerebellar volume. Effect sizes for anterior “enlargement” were small (0.30 for frontal. 0.18 for parietal lobe) while effect sizes for posterior brain region “decrement” were more robust (range .57 for occipital lobe to .70 for cerebellum). Volume decrement in the CLP patients in the temporal lobe and cerebellum were more severe on the left side.
Conclusions: Adult males with CLP have significant cognitive deficits. Against the background of global cognitive dysfunction, language function is particularly disturbed. In addition, adult males with CLP have a significantly altered pattern of brain morphology compared to healthy controls, which is most likely due to aberrant cerebral development. Pathoetiologic mechanisms will be further discussed. This study highlights the complex interaction and interdependence of craniofacial and cerebral development.
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Nopoulos, P., Bern, S., Richman, L. et al. Abnormal brain structure and function in adult males with isolated clefts of the lip and/or palate. Genet Med 2, 65 (2000). https://doi.org/10.1097/00125817-200001000-00058
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DOI: https://doi.org/10.1097/00125817-200001000-00058