Abnormal brain structure in adults with Van der Woude syndrome

Area of Science:

• Neuroscience
• Genetics
• Medical Imaging

Background:

• Van der Woude syndrome (VWS) is an autosomal dominant disorder causing cleft lip/palate and lip pits.
• Isolated cleft lip/palate (ICLP) shares genetic and phenotypic similarities with VWS.
• ICLP is associated with brain structure and function abnormalities.

Purpose of the Study:

• To investigate and compare the brain structure patterns in adults with VWS to healthy controls.
• To explore potential links between VWS brain structure and neurodevelopmental processes.

Main Methods:

• Magnetic resonance imaging (MRI) was used to evaluate brain structure in 14 adult VWS patients and matched controls.
• Quantitative analysis of regional brain volumes was performed.

Main Results:

• Adults with VWS exhibited enlarged anterior cerebrum volumes.
• Men with VWS showed reduced posterior cerebrum volumes.
• Anterior cerebrum enlargement in VWS correlated negatively with IQ, suggesting a pathological process.

Conclusions:

• The brain structure pattern in VWS is highly similar to that observed in ICLP.
• Men appear to be more severely affected in VWS.
• Findings support the hypothesis that VWS and ICLP brain abnormalities stem from disrupted neurodevelopment.