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Abnormal Cerebellar Structure Is Dependent on Phenotype of Isolated Cleft of the Lip and/or Palate

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Abstract

Isolated cleft lip and/or palate (ICLP) is one of the most common congenital birth defects in the USA, affecting roughly 1 in 600 births annually. Along with the facial deformity, this population has been found to have abnormal neurodevelopment and gross structural abnormalities in the brain, particularly within the cerebellum. The current study examined cerebellar structure within the two primary subtypes of ICLP: cleft lip with/without cleft palate (CL/P) and cleft palate alone (CPO). A large sample of 107 subjects aged 7 to 27 years with ICLP was compared to 127 healthy controls. Samples were separated by sex. Brain structure was obtained via magnetic resonance imaging. For males, after controlling for intracranial volume, cerebellum volume was significantly lower in the ICLP group (F = 12.351, p = 0.001). Regionally in the cerebellum, males with ICLP had proportionally larger anterior lobes (F = 4.022, p = 0.047) and smaller superior posterior lobes (F = 5.686, p = 0.019). CL/P males showed only a reduction in overall cerebellum volume, with no regional changes. CPO males showed only regional changes, with no reduction in overall volume. Females with ICLP showed no overall or regional cerebellar abnormalities. However, females with CPO did have significantly lower cerebellum volumes than controls. The results reveal both global and regional cerebellar abnormalities within subjects with ICLP. They also establish the existence of abnormal cerebellar morphologies that are dependent on cleft subtype as well as sex. This lends further support to the claim that CL/P and CPO are distinct conditions.

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Acknowledgments

This project is funded by 5 R01 DE014399-05, a grant from the National Institutes of Dental and Craniofacial Research (NIDCR).

Conflict of Interest

The authors have no conflicts of interest associated with this manuscript.

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Authors and Affiliations

  1. Department of Psychiatry, University of Iowa Carver College of Medicine, Iowa City, IA, USA

    Ian DeVolder, Amy L. Conrad & Peg Nopoulos

  2. Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, IA, USA

    Lynn Richman

  3. Department of Radiology, University of Iowa Carver College of Medicine, Iowa City, IA, USA

    Vincent Magnotta

  4. University of Iowa Hospitals and Clinics, 200 Hawkins Drive, W278GH, Iowa City, IA, 52242, USA

    Ian DeVolder

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  1. Ian DeVolder
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  2. Lynn Richman
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  4. Vincent Magnotta
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  5. Peg Nopoulos
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Correspondence to Ian DeVolder.

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DeVolder, I., Richman, L., Conrad, A.L. et al. Abnormal Cerebellar Structure Is Dependent on Phenotype of Isolated Cleft of the Lip and/or Palate. Cerebellum 12, 236–244 (2013). https://doi.org/10.1007/s12311-012-0418-y

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  • DOI: https://doi.org/10.1007/s12311-012-0418-y

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