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Published on: September 19, 2015
Abnormal cerebellar structure is dependent on phenotype of isolated cleft of the lip and/or palate
Ian DeVolder1, Lynn Richman, Amy L Conrad
1Department of Psychiatry, University of Iowa Carver College of Medicine, Iowa City, IA, USA. ian-devolder@uiowa.edu
Insights
Cerebellum abnormalities are common in individuals with isolated cleft lip and/or palate (ICLP), varying by sex and cleft type. Males with ICLP show reduced overall cerebellum volume and regional differences, while females with cleft palate alone also exhibit reduced volumes.
Area of Science:
- Neuroscience
- Developmental Biology
- Medical Imaging
Background:
- Isolated cleft lip and/or palate (ICLP) affects ~1 in 600 births, associated with neurodevelopmental and brain structural abnormalities.
- The cerebellum, crucial for motor control and cognition, is frequently implicated in ICLP-related brain anomalies.
Purpose of the Study:
- To investigate cerebellar structure differences in subtypes of ICLP: cleft lip with/without cleft palate (CL/P) and cleft palate alone (CPO).
- To determine if cerebellar abnormalities in ICLP are sex-dependent.
Main Methods:
- Magnetic resonance imaging (MRI) was used to analyze cerebellar structure in 107 ICLP subjects (ages 7-27) and 127 healthy controls.
- Data were analyzed separately for males and females, controlling for intracranial volume.
Main Results:
- Males with ICLP exhibited significantly lower overall cerebellum volume and regional differences (larger anterior, smaller superior posterior lobes).
- CL/P males showed reduced overall cerebellum volume, while CPO males had only regional changes.
- Females with ICLP showed no global or regional abnormalities, except for females with CPO who had significantly lower cerebellum volumes.
Conclusions:
- ICLP is associated with both global and regional cerebellar abnormalities.
- Cerebellar morphology in ICLP is influenced by both the specific cleft subtype and sex.
- These findings support the classification of CL/P and CPO as distinct conditions.
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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