Cornelia de Lange syndrome: Correlation of brain MRI findings with behavioral assessment

Tamanna R. Roshan Lal, Mark A. Kliewer, Thelma Lopes, Susan L. Rebsamen, Julia O'Connor, Marco A. Grados, Amy Kimball, Julia Clemens, Antonie D. Kline

Research output: Contribution to journalArticlepeer-review

9 Scopus citations


Neurobehavioral and developmental issues with a broad range of deficits are prominent features of Cornelia de Lange syndrome (CdLS), a disorder due to disruption of the cohesin protein complex. The etiologic relationship of these clinical findings to anatomic abnormalities on neuro-imaging studies has not, however, been established. Anatomic abnormalities in the brain and central nervous system specific to CdLS have been observed, including changes in the white matter, brainstem, and cerebellum. We hypothesize that location and severity of brain abnormalities correlate with clinical phenotype in CdLS, as seen in other developmental disorders. In this study, we retrospectively evaluated brain MRI studies of 15 individuals with CdLS and compared these findings to behavior at the time of the scan. Behavior was assessed using the Aberrant Behavior Checklist (ABC), a validated behavioral assessment tool with several clinical features. Ten of fifteen (67%) of CdLS patients had abnormal findings on brain MRI, including cerebral atrophy, white matter changes, cerebellar hypoplasia, and enlarged ventricles. Other findings included pituitary tumors or cysts, Chiari I malformation and gliosis. Abnormal behavioral scores in more than one behavioral area were seen in all but one patient. All 5 of the 15 (33%) patients with normal structural MRI studies had abnormal ABC scores. All normal ABC scores were noted in only one patient and this was correlated with moderately abnormal MRI changes. Although our cohort is small, our results suggest that abnormal behaviors can exist in individuals with CdLS in the setting of relatively normal structural brain findings.

Original languageEnglish (US)
Pages (from-to)190-197
Number of pages8
JournalAmerican Journal of Medical Genetics, Part C: Seminars in Medical Genetics
Issue number2
StatePublished - Jun 1 2016


  • Aberrant Behavior Checklist
  • Cornelia de Lange syndrome
  • MRI
  • behavior
  • brain

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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