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.

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