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dc.contributor.authorSadeghi, Neda
dc.contributor.authorHutchinson, Elizabeth
dc.contributor.authorVan Ryzin, Carol
dc.contributor.authorFitzGibbon, Edmond J
dc.contributor.authorButman, John A
dc.contributor.authorWebb, Bryn D
dc.contributor.authorFacio, Flavia
dc.contributor.authorBrooks, Brian P
dc.contributor.authorCollins, Francis S
dc.contributor.authorJabs, Ethylin Wang
dc.contributor.authorEngle, Elizabeth C
dc.contributor.authorManoli, Irini
dc.contributor.authorPierpaoli, Carlo
dc.contributor.authorMoebius Syndrome Research Consortium
dc.date.accessioned2021-01-09T02:15:35Z
dc.date.available2021-01-09T02:15:35Z
dc.date.issued2020-02-14
dc.identifier.citationSadeghi, 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.en_US
dc.identifier.issn2632-1297
dc.identifier.pmid32328577
dc.identifier.doi10.1093/braincomms/fcaa014
dc.identifier.urihttp://hdl.handle.net/10150/650683
dc.description.abstractIn 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.en_US
dc.language.isoenen_US
dc.publisherOXFORD UNIV PRESSen_US
dc.rightsPublished 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.en_US
dc.rights.urihttps://creativecommons.org/publicdomain/mark/1.0/en_US
dc.subjectbrainstemen_US
dc.subjectDTIen_US
dc.subjectDTBMen_US
dc.subjectmagnetic resonance imagingen_US
dc.subjectquantitativeen_US
dc.titleBrain phenotyping in Moebius syndrome and other congenital facial weakness disorders by diffusion MRI morphometryen_US
dc.typeArticleen_US
dc.identifier.eissn2632-1297
dc.contributor.departmentUniv Arizona, Dept Biomed Engnen_US
dc.identifier.journalBRAIN COMMUNICATIONSen_US
dc.description.notePublic domain articleen_US
dc.description.collectioninformationThis 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.en_US
dc.eprint.versionFinal published versionen_US
dc.source.journaltitleBrain communications
dc.source.volume2
dc.source.issue1
dc.source.beginpagefcaa014
dc.source.endpage
refterms.dateFOA2021-01-09T02:15:48Z
dc.source.countryUnited States
dc.source.countryEngland


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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.
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.