Cornelia de Lange Syndrome: Correlation of Brain MRI Findings With Behavioral Assessment

Title

Cornelia de Lange Syndrome: Correlation of Brain MRI Findings With Behavioral Assessment

Creator

Lal T R R; Kliewer M A; Lopes T; Rebsamen S L; O'Connor J; Grados M A; Kimball A; Clemens J; Kline A D

Publisher

American Journal of Medical Genetics Part C - Seminars in Medical Genetics

Date

2016

Subject

behavior; Genetics & Heredity; Cornelia de Lange syndrome; individuals; phenotype; mutations; mental-retardation; autism spectrum disorder; aberrant behavior; Aberrant Behavior; brain; Checklist; functional connectivity; hypoplasia; MRI; neuroanatomy; nipped-b; behavioral problems; De Lange syndrome; trajectory; characteristics

Description

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. (C) 2016 Wiley Periodicals, Inc.

Rights

Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).

Citation

Lal T R R; Kliewer M A; Lopes T; Rebsamen S L; O'Connor J; Grados M A; Kimball A; Clemens J; Kline A D, “Cornelia de Lange Syndrome: Correlation of Brain MRI Findings With Behavioral Assessment,” Pediatric Palliative Care Library, accessed September 21, 2021, https://pedpalascnetlibrary.omeka.net/items/show/16719.

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