Evidence map›Paper›PMID 41038591›Full record

ArticleNeuroImage2025

Early White Matter Microstructure Alterations in Infants with Down Syndrome.

Omar Azrak, Dea Garic, Aleeshah Nasir, Meghan R Swanson, Rebecca L Grzadzinski, Khalid Al-Ali, Mark D Shen, Jessica B Girault, Tanya St John, Juhi Pandey and 18 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in NeuroImage, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

28 authors.

Omar AzrakDepartment of Psychiatry, University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, NC, USA. Electronic address: omar_azrak@med.unc.edu.
Dea GaricDepartment of Psychiatry, University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, NC, USA; Carolina Institute for Developmental Disabilities, University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, NC, USA. Electronic address: dea_garic@med.unc.edu.
Aleeshah NasirDepartment of Psychiatry, University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, NC, USA. Electronic address: aleeshah_nasir@med.unc.edu.
Meghan R SwansonDepartment of Pediatrics, University of Minnesota, Minneapolis, MN, USA. Electronic address: swanson1@umn.edu.
Rebecca L GrzadzinskiDepartment of Psychiatry, University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, NC, USA; Carolina Institute for Developmental Disabilities, University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, NC, USA. Electronic address: rebecca_grzadzinski@med.unc.edu.
Khalid Al-AliDepartment of Psychiatry, Indiana University School of Medicine, Indianapolis, IN, USA. Electronic address: khalali@iu.edu.
Mark D ShenDepartment of Psychiatry, University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, NC, USA; Carolina Institute for Developmental Disabilities, University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, NC, USA. Electronic address: mark_shen@med.unc.edu.
Jessica B GiraultDepartment of Psychiatry, University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, NC, USA; Carolina Institute for Developmental Disabilities, University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, NC, USA. Electronic address: jessica_girault@med.unc.edu.
Tanya St JohnUniversity of Washington Autism Center, University of Washington, Seattle, WA, USA. Electronic address: tstjohn@uw.edu.
Juhi PandeyCenter for Autism Research, Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA. Electronic address: pandeyj@chop.edu.
Lonnie ZwaigenbaumAutism Research Centre, Department of Pediatrics, University of Alberta, Edmonton, Canada. Electronic address: lonnie.zwaigenbaum@albertahealthservices.ca.
Annette M EstesUniversity of Washington Autism Center, University of Washington, Seattle, WA, USA. Electronic address: estesa@uw.edu.
Jason J WolffDepartment of Pediatrics, University of Minnesota, Minneapolis, MN, USA. Electronic address: jjwolff@umn.edu.
Stephen R DagerCenter on Human Development and Disability, University of Washington, Seattle, WA, USA. Electronic address: srd@uw.edu.
Robert T SchultzCenter for Autism Research, Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA. Electronic address: schultzrt@chop.edu.
Alan C EvansMcConnell Brain Imaging Centre, Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada. Electronic address: alan.evans@mcgill.ca.
Jed T ElisonInstitute of Child Development, University of Minnesota, Minneapolis, MN, USA. Electronic address: jtelison@umn.edu.
Essa YacoubDepartment of Radiology, University of Minnesota, Minneapolis, MN, USA. Electronic address: yaco0006@umn.edu.
Sun Hyung KimDepartment of Psychiatry, University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, NC, USA. Electronic address: sunhyung_kim@med.unc.edu.
Robert C McKinstryMallinckrodt Institute of Radiology, Washington University School of Medicine, St. Louis, MO, US. Electronic address: mckinstryb@wustl.edu.
Guido GerigTandon School of Engineering, New York University, New York, NY, USA. Electronic address: gg87@nyu.edu.
John R PruettDepartment of Psychiatry, Washington University School of Medicine, St. Louis, MO, USA. Electronic address: pruettj@wustl.edu.
Joseph PivenDepartment of Psychiatry, University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, NC, USA; Carolina Institute for Developmental Disabilities, University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, NC, USA. Electronic address: jpiven@med.unc.edu.
Kelly N BotteronDepartment of Psychiatry, Washington University School of Medicine, St. Louis, MO, USA. Electronic address: botteronk@wustl.edu.
Heather C HazlettDepartment of Psychiatry, University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, NC, USA; Carolina Institute for Developmental Disabilities, University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, NC, USA. Electronic address: heather_cody@med.unc.edu.
Natasha MarrusDepartment of Psychiatry, Washington University School of Medicine, St. Louis, MO, USA. Electronic address: natasha@wustl.edu.
Martin A StynerDepartment of Psychiatry, University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, NC, USA. Electronic address: styner@email.unc.edu.
Infant Brain Imaging Study (IBIS) Network

Funding

Cellular and molecular mechanisms governing cortical surface area overgrowth in iPSC-derived neural cells from longitudinally characterized individuals with autismR01HD055741 · NICHD · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Joseph Piven · 2007 to 2026
$52.6M
MRI-Based Presymptomatic Prediction of ASD, and Early Infant to School-Age Brain-Behavior Trajectories, Mechanisms, and Related OutcomesR01MH118362 · NIMH · WASHINGTON UNIVERSITY · PI John R Pruett · 2019 to 2026
$16.3M
WUIDDRC Supplement-Supporting the health and well-being of children with intellectual and developmental disability during COVID-19 pandemicP50HD103525 · NICHD · WASHINGTON UNIVERSITY · PI JEFFREY D MILBRANDT · 2020 to 2026
$15.5M
A Longitudinal MRI Study Characterizing Very Early Brain Development in Infants with Down SyndromeR01HD088125 · NICHD · WASHINGTON UNIVERSITY · PI MARRUS, NATASHA · 2018 to 2024
$13.9M
Preclinical CoreP50HD103573 · NICHD · UNIV OF NORTH CAROLINA CHAPEL HILL · PI GABRIEL S DICHTER · 2020 to 2026
$9.7M
Postdoctoral Research in Neurodevelopmental DisordersT32HD040127 · NICHD · UNIV OF NORTH CAROLINA CHAPEL HILL · PI BENJAMIN D PHILPOT, Mark D Shen · 2001 to 2026
$8.5M
Genetic Liability for Autism and Infant Brain and Behavioral DevelopmentK01MH122779 · NIMH · UNIV OF NORTH CAROLINA CHAPEL HILL · PI GIRAULT, JESSICA BULLINS · 2020 to 2024
$919k
The Role of CSF Dynamics in Infant Brain and Behavioral Development in Down Syndrome and Related Neurodevelopmental DisordersK01HD109445 · NICHD · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Dea Garic · 2022 to 2026
$739k
Infant arousal as a predictor of functional outcomes in Down syndrome (DS)K23HD112809 · NICHD · UNIV OF NORTH CAROLINA CHAPEL HILL · PI GRZADZINSKI, REBECCA LYNN · 2023 to 2025
$586k
NICHD NIH HHS K01 HD109445NICHD NIH HHS K23 HD112809NICHD NIH HHS P50 HD103525NICHD NIH HHS P50 HD103573NICHD NIH HHS R01 HD055741NICHD NIH HHS R01 HD088125NICHD NIH HHS T32 HD040127NIMH NIH HHS K01 MH122779NIMH NIH HHS R01 MH118362
6 · The paper itself

Abstract

Down syndrome (DS), resulting from Trisomy 21, is the most prevalent chromosomal disorder and a leading cause of intellectual disability. Despite the significant impact of Trisomy 21 on brain development, research on white matter (WM) microstructure in infants with DS remains limited. While widespread reductions in WM integrity have been identified in children and young adults with DS, no study has examined WM microstructure in infancy. This study investigates early WM microstructure in infants with DS using diffusion tensor imaging (DTI) and neurite orientation dispersion and density imaging (NODDI). Forty-nine infants with DS (28 [57.14%] female) and 36 control (18 [48.65%] female) infants were scanned at 6 months of age. Infants with DS showed significant reductions in fractional anisotropy and neurite density index across multiple association tracts, particularly in the inferior fronto-occipital fasciculus and superior longitudinal fasciculus II, consistent with reduced structural integrity and neurite density. Increased radial diffusivity was observed in these tracts, a feature associated with disrupted myelination. In the inferior fronto-occipital fasciculus, superior longitudinal fasciculus II, and uncinate fasciculus, an elevated orientation dispersion index suggested increased neurite dispersion and fanning in infants with DS. These findings reveal widespread WM developmental alterations in DS, providing new insights into the early neurodevelopment of DS, which may inform timing of early therapeutic interventions.

Indexed as

BrainDown SyndromeWhite MatterDiffusion Tensor ImagingFemaleHumansInfantMaleNeuritesDiffusion tensor imagingDown syndromeMRINeurite orientation dispersion and density imagingWhite matter microstructureWhite matter tracts

Identifiers

PMID41038591
PMCPMC12629210

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