Cranial morphology in the 18p-syndrome

Area of Science:

• Neuroscience
• Genetics
• Pediatrics

Background:

• 18p- syndrome is a rare chromosomal disorder associated with developmental delays and intellectual disability.
• Previous investigations have highlighted various clinical manifestations, but detailed neuroimaging findings require further elucidation.

Purpose of the Study:

• To investigate the neuroanatomical characteristics of children diagnosed with 18p- syndrome using cranial computerized tomography (CCT).
• To explore potential correlations between the severity of cerebral malformations and the degree of intellectual disability in affected children.

Main Methods:

• Retrospective analysis of cranial computerized tomography (CCT) scans from three pediatric patients with 18p- syndrome.
• Clinical data, including assessments of intellectual disability, were correlated with neuroimaging findings.

Main Results:

• CCT revealed significant cerebral malformations in all investigated cases.
• A positive correlation was observed between the severity of cerebral malformations and the extent of brain deformities.
• No significant correlation was found between the degree of cerebral malformation and the level of intellectual retardation.

Conclusions:

• Cranial computerized tomography (CCT) is a valuable tool for assessing neuroanatomical abnormalities in 18p- syndrome.
• While cerebral malformations are evident, they do not appear to be the sole determinant of intellectual disability severity in this syndrome.