Diffusion Tensor Imaging Abnormalities in the Uncinate Fasciculus and Inferior Longitudinal Fasciculus in Phelan-McDermid Syndrome.
22q13.3 deletion
Autism
DTI
SHANK3
Journal
Pediatric neurology
ISSN: 1873-5150
Titre abrégé: Pediatr Neurol
Pays: United States
ID NLM: 8508183
Informations de publication
Date de publication:
05 2020
05 2020
Historique:
received:
19
10
2019
revised:
13
01
2020
accepted:
21
01
2020
pubmed:
29
2
2020
medline:
13
4
2021
entrez:
29
2
2020
Statut:
ppublish
Résumé
This cohort study utilized diffusion tensor imaging tractography to compare the uncinate fasciculus and inferior longitudinal fasciculus in children with Phelan-McDermid syndrome with age-matched controls and investigated trends between autism spectrum diagnosis and the integrity of the uncinate fasciculus and inferior longitudinal fasciculus white matter tracts. This research was conducted under a longitudinal study that aims to map the genotype, phenotype, and natural history of Phelan-McDermid syndrome and identify biomarkers using neuroimaging (ClinicalTrial NCT02461420). Patients were aged three to 21 years and underwent longitudinal neuropsychologic assessment over 24 months. MRI processing and analyses were completed using previously validated image analysis software distributed as the Computational Radiology Kit (http://crl.med.harvard.edu/). Whole-brain connectivity was generated for each subject using a stochastic streamline tractography algorithm, and automatically defined regions of interest were used to map the uncinate fasciculus and inferior longitudinal fasciculus. There were 10 participants (50% male; mean age 11.17 years) with Phelan-McDermid syndrome (n = 8 with autism). Age-matched controls, enrolled in a separate longitudinal study (NIH R01 NS079788), underwent the same neuroimaging protocol. There was a statistically significant decrease in the uncinate fasciculus fractional anisotropy measure and a statistically significant increase in uncinate fasciculus mean diffusivity measure, in the patient group versus controls in both right and left tracts (P ≤ 0.024). Because the uncinate fasciculus plays a critical role in social and emotional interaction, this tract may underlie some deficits seen in the Phelan-McDermid syndrome population. These findings need to be replicated in a larger cohort.
Sections du résumé
BACKGROUND
This cohort study utilized diffusion tensor imaging tractography to compare the uncinate fasciculus and inferior longitudinal fasciculus in children with Phelan-McDermid syndrome with age-matched controls and investigated trends between autism spectrum diagnosis and the integrity of the uncinate fasciculus and inferior longitudinal fasciculus white matter tracts.
METHODS
This research was conducted under a longitudinal study that aims to map the genotype, phenotype, and natural history of Phelan-McDermid syndrome and identify biomarkers using neuroimaging (ClinicalTrial NCT02461420). Patients were aged three to 21 years and underwent longitudinal neuropsychologic assessment over 24 months. MRI processing and analyses were completed using previously validated image analysis software distributed as the Computational Radiology Kit (http://crl.med.harvard.edu/). Whole-brain connectivity was generated for each subject using a stochastic streamline tractography algorithm, and automatically defined regions of interest were used to map the uncinate fasciculus and inferior longitudinal fasciculus.
RESULTS
There were 10 participants (50% male; mean age 11.17 years) with Phelan-McDermid syndrome (n = 8 with autism). Age-matched controls, enrolled in a separate longitudinal study (NIH R01 NS079788), underwent the same neuroimaging protocol. There was a statistically significant decrease in the uncinate fasciculus fractional anisotropy measure and a statistically significant increase in uncinate fasciculus mean diffusivity measure, in the patient group versus controls in both right and left tracts (P ≤ 0.024).
CONCLUSION
Because the uncinate fasciculus plays a critical role in social and emotional interaction, this tract may underlie some deficits seen in the Phelan-McDermid syndrome population. These findings need to be replicated in a larger cohort.
Identifiants
pubmed: 32107139
pii: S0887-8994(20)30032-1
doi: 10.1016/j.pediatrneurol.2020.01.006
pmc: PMC7190002
mid: NIHMS1566300
pii:
doi:
Banques de données
ClinicalTrials.gov
['NCT02461420']
Types de publication
Clinical Study
Journal Article
Multicenter Study
Research Support, N.I.H., Extramural
Research Support, N.I.H., Intramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
24-31Subventions
Organisme : NINDS NIH HHS
ID : U54 NS092090
Pays : United States
Organisme : NICHD NIH HHS
ID : U54 HD090255
Pays : United States
Organisme : Intramural NIH HHS
ID : ZIC MH002961
Pays : United States
Organisme : NICHD NIH HHS
ID : R01 HD069560
Pays : United States
Organisme : NIMH NIH HHS
ID : R01 MH113948
Pays : United States
Investigateurs
Mustafa Sahin
(M)
Alexander Kolevzon
(A)
Joseph Buxbaum
(J)
Elizabeth Berry Kravis
(E)
Latha Soorya
(L)
Audrey Thurm
(A)
Craig Powell
(C)
Jonathan A Bernstein
(JA)
Simon Warfield
(S)
Benoit Scherrer
(B)
Rajna Filip-Dhima
(R)
Kira Dies
(K)
Paige Siper
(P)
Ellen Hanson
(E)
Jennifer M Phillips
(JM)
Stormi P White
(SP)
Informations de copyright
Copyright © 2020 Elsevier Inc. All rights reserved.
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