Brain phenotyping in Moebius syndrome and other congenital facial weakness disorders by diffusion MRI morphometry
Author
Sadeghi, NedaHutchinson, Elizabeth
Van Ryzin, Carol
FitzGibbon, Edmond J
Butman, John A
Webb, Bryn D
Facio, Flavia
Brooks, Brian P
Collins, Francis S
Jabs, Ethylin Wang
Engle, Elizabeth C
Manoli, Irini
Pierpaoli, Carlo
Moebius Syndrome Research Consortium
Affiliation
Univ Arizona, Dept Biomed EngnIssue Date
2020-02-14
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OXFORD UNIV PRESSCitation
Sadeghi, N., Hutchinson, E., Van Ryzin, C., FitzGibbon, E. J., Butman, J. A., Webb, B. D., ... & Moebius Syndrome Research Consortium. (2020). Brain phenotyping in Moebius syndrome and other congenital facial weakness disorders by diffusion MRI morphometry. Brain Communications, 2(1), fcaa014.Journal
BRAIN COMMUNICATIONSRights
Published by Oxford University Press on behalf of the Guarantors of Brain 2020. This work is written by US Government employees and is in the public domain in the US.Collection Information
This item from the UA Faculty Publications collection is made available by the University of Arizona with support from the University of Arizona Libraries. If you have questions, please contact us at repository@u.library.arizona.edu.Abstract
In this study, we used a novel imaging technique, DTI (diffusion tensor imaging)-driven tensor-based morphometry, to investigate brain anatomy in subjects diagnosed with Moebius syndrome (n = 21), other congenital facial weakness disorders (n = 9) and healthy controls (n = 15). First, we selected a subgroup of subjects who satisfied the minimum diagnostic criteria for Moebius syndrome with only mild additional neurological findings. Compared to controls, in this cohort, we found a small region of highly significant volumetric reduction in the paramedian pontine reticular formation and the medial longitudinal fasciculus, important structures for the initiation and coordination of conjugate horizontal gaze. Subsequently, we tested if volume measurements from this region could help differentiate individual subjects of the different cohorts that were included in our study. We found that this region allowed discriminating Moebius syndrome subjects from congenital facial weakness disorders and healthy controls with high sensitivity (94%) and specificity (89%). Interestingly, this region was normal in congenital facial weakness subjects with oculomotor deficits of myopathic origin, who would have been classified as Moebius on the basis of purely clinical diagnostic criteria, indicating a potential role for diffusion MRI morphometry for differential diagnosis in this condition. When the entire Moebius syndrome cohort was compared to healthy controls, in addition to this 'landmark' region, other areas of significantly reduced volume in the brainstem emerged, including the location of the nuclei and fibres of cranial nerve VI (abducens nerve), and fibres of cranial nerve VII (facial nerve), and a more rostral portion of the medial longitudinal fasciculus. The high sensitivity and specificity of DTI-driven tensor-based morphometry in reliably detecting very small areas of volumetric abnormality found in this study suggest broader applications of this analysis in personalized medicine to detect hypoplasia or atrophy of small pathways and/or brainstem nuclei in other neurological disorders.Note
Public domain articleISSN
2632-1297EISSN
2632-1297PubMed ID
32328577Version
Final published versionae974a485f413a2113503eed53cd6c53
10.1093/braincomms/fcaa014
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Except where otherwise noted, this item's license is described as Published by Oxford University Press on behalf of the Guarantors of Brain 2020. This work is written by US Government employees and is in the public domain in the US.
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