Relationship between genotype and arcuate fasciculus morphology in six young children with global developmental delay: Preliminary DTI stuy: Genotype and Language Tract Morphology
Open accessAbstract
Purpose To investigate whether different genetic mutations observed in children with global developmental delay (GD) are associated with unique patterns of the arcuate fasciculus dysmorphology. Materials and Methods Six children with GD (age: 36.8 ± 14.1 months, 5 boys) having mutations in MID1, CDK4, SFRP1, EN2, RXRG-GLRB, or MECP2, and five children with typical development (TD, age: 38.5 ± 20.5 months, 4 boys) underwent a 3 Tesla MRI including diffusion weighted imaging (DWI). Five language pathway segments in the left hemisphere, “C1: Broca's to Wernicke's area,” “C2: Broca's to premotor area,” “C3: premotor to Wernicke's area,” “C4: Wernicke's to inferior parietal area,” and “C5: premotor to inferior parietal area” were objectively identified using the DWI “maximum a posteriori probability” classifier. Results Affinity propagation clustering analysis found that three arcuate pathway segments, C1,2,4, of MID1, CDK4, EN2, and MECP2 had a similar pattern of volume ratio while those of SFRP1 and RXRG-GLRB had a heterogeneous pattern of volume ratio (net similarity = -0.01). Using receiver operating characteristic curve analysis, the fiber ratios of C1,2,4 showed a high probability to discriminate between GD and TD, yielding an accuracy of 0.91, 0.91, 1.00, respectively. The fiber volumes of C1 and C4 showed a strong correlation with expressive language (R2 = 0.6019; P-value = 0.033) and receptive language (R2 = 0.6379; P-value = 0.028), respectively. Conclusion The findings of the present study provide preliminary evidence to suggest that different segments of the arcuate fasciculus are formed under the regulation of different genes which, when mutated, may result in developmental delay. J. Magn. Reson. Imaging 2016;44:1504–1512.
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Genes associated with axon guidance functions, important for refinement of neural circuits including those relevant for speech and language, are found in introgression deserts.
“genes associated with axon guidance functions, which are important for the refinement of neural circuits including those relevant for speech and language, are found in introgression deserts126,127.”
From A catalog of single nucleotide changes distinguishing modern humans from archaic hominins (2019) · cites this paper as [127]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
Clustering by Passing Messages Between Data Points
Frey, B. J., & Dueck, D. (2007) · Science · doi:10.1126/science.1136800 · Cited by 6,733 · see citing works
Characterization and propagation of uncertainty in diffusion-weighted MR imaging
Behrens, T. E. J., Woolrich, M. W., Jenkinson, M., Johansen‐Berg, H., Nunes, R. G., Clare, S., Matthews, P. M., Brady, J. M., & Smith, S. M. (2003) · Magnetic Resonance in Medicine · doi:10.1002/mrm.10609 · Cited by 3,038 · see citing works
(2001) · Medical Entomology and Zoology · Cited by 1,044 · see citing works
Deep sequencing reveals 50 novel genes for recessive cognitive disorders
Najmabadi, H., Hu, H., Garshasbi, M., Zemojtel, T., Abedini, S. S., Chen, W., Hosseini, M., Behjati, F., Haas, S., Jamali, P., et al. (2011) · Nature · doi:10.1038/nature10423 · Cited by 965 · see citing works
The evolution of the arcuate fasciculus revealed with comparative DTI
Rilling, J. K., Glasser, M. F., Preuss, T. M., Ma, X., Zhao, T., Hu, X. P., & Behrens, T. E. J. (2008) · Nature Neuroscience · doi:10.1038/nn2072 · Cited by 866 · see citing works
A de novo paradigm for mental retardation.
Vissers, L. E. L. M., de Ligt, J., Gilissen, C., Janssen, I., Steehouwer, M., de Vries, P., van Lier, B., Arts, P., Wieskamp, N., del Rosario, M., et al. (2010) · Nature Genetics · doi:10.1038/ng.712 · Cited by 852 · see citing works
Practice parameter: Evaluation of the child with global developmental delay [RETIRED]
Shevell, M. I., Ashwal, S., Donley, D., Flint, J., Gingold, M. K., Hirtz, D., Majnemer, A., Noetzel, M. J., & Sheth, R. D. (2003) · Neurology · doi:10.1212/01.wnl.0000031431.81555.16 · Cited by 813 · see citing works
Catani, M., & Mesulam, M. M. (2008) · Cortex · doi:10.1016/j.cortex.2008.04.002 · Cited by 759 · see citing works
A novel frontal pathway underlies verbal fluency in primary progressive aphasia
Catani, M., Mesulam, M. M., Jakobsen, E., Malik, F., Martersteck, A., Wieneke, C. A., Thompson, C. K., de Schotten, M. T., Dell’Acqua, F., Weıntraub, S., et al. (2013) · Brain · doi:10.1093/brain/awt163 · Cited by 480 · see citing works
Genetics of Early Onset Cognitive Impairment
Ropers, H. (2010) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-082509-141640 · Cited by 365 · see citing works
Lüders, H. O., Lesser, R. P., Hahn, J. F., Dinner, D. S., Morris, H. H., Wyllie, E., & GODOY, J. (1991) · Brain · doi:10.1093/brain/114.2.743 · Cited by 339 · see citing works
Molecular mechanisms of axon guidance
Chilton, J. K. (2006) · Developmental Biology · doi:10.1016/j.ydbio.2005.12.048 · Cited by 285 · see citing works
The transcription factor Engrailed-2 guides retinal axons
Brunet, I., Weinl, C., Piper, M., Trembleau, A., Volovitch, M., Harris, W. A., Prochiantz, A., & Holt, C. E. (2005) · Nature · doi:10.1038/nature04110 · Cited by 264 · see citing works
Molecular and Comparative Genetics of Mental Retardation
Inlow, J. K., & Restifo, L. L. (2004) · Genetics · doi:10.1534/genetics.166.2.835 · Cited by 262 · see citing works
Beyond cortical localization in clinico-anatomical correlation.
Catani, M., Dell'Acqua, F., Bizzi, A., Forkel, S., Williams, S. C. R., Simmons, A., Murphy, D., & de Schotten, M. T. (2012) · Cortex; a journal devoted to the study of the nervous system and behavior · doi:10.1016/j.cortex.2012.07.001 · Cited by 244 · see citing works
Association of the homeobox transcription factor, ENGRAILED 2, 3, with autism spectrum disorder
Gharani, N., Benayed, R., Mancuso, V., Brzustowicz, L. M., & Millonig, J. H. (2004) · Molecular Psychiatry · doi:10.1038/sj.mp.4001498 · Cited by 219 · see citing works
Human Genetic Disorders of Axon GuidancePreprint
Engle, E. C. (2010) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a001784 · Cited by 201 · see citing works
Damage to the anterior arcuate fasciculus predicts non-fluent speech production in aphasia
Fridriksson, J., Guo, D., Fillmore, P., Holland, A., & Rorden, C. (2013) · Brain · doi:10.1093/brain/awt267 · Cited by 172 · see citing works
Short, K. M., Hopwood, B., Yi, Z., & Cox, T. C. (2002) · BMC Cell Biology · doi:10.1186/1471-2121-3-1 · Cited by 137 · see citing works
Nagae, L. M., Zarnow, D. M., Blaskey, L. G., Dell, J., Khan, S. Y., Qasmieh, S., Levy, S. E., & Roberts, T. P. L. (2012) · American Journal of Neuroradiology · doi:10.3174/ajnr.a3037 · Cited by 87 · see citing works
Alterations in white matter pathways in Angelman syndrome
PETERS, S. U., KAUFMANN, W. E., BACINO, C. A., ANDERSON, A. W., ADAPA, P., CHU, Z., YALLAMPALLI, R., TRAIPE, E., HUNTER, J. V., & WILDE, E. A. (2011) · Developmental Medicine & Child Neurology · doi:10.1111/j.1469-8749.2010.03838.x · Cited by 69 · see citing works
Abnormal Language Pathway in Children With Angelman Syndrome
Wilson, B. J., Sundaram, S. K., Huq, A. H. M., Jeong, J.-W., Halverson, S. R., Behen, M. E., Bui, D. Q., & Chugani, H. T. (2011) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2010.12.002 · Cited by 60 · see citing works
Self-citationX-linked microtubule-associated protein, Mid1, regulates axon development
Lu, T., Chen, R., Cox, T. C., Moldrich, R. X., Kurniawan, N. D., Tan, G., Perry, J. K., Ashworth, A., Bartlett, P. F., Xu, L., et al. (2013) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1303687110 · Cited by 46 · see citing works
Sundaram, S. K., Sivaswamy, L., Makki, M., Behen, M. E., & Chugani, H. T. (2007) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2007.06.037 · Cited by 44 · see citing works
Self-citationMidline governs axon pathfinding by coordinating expression of two major guidance systemsPreprint
Liu, Q.-X., Hiramoto, M., Ueda, H., Gojobori, T., Hiromi, Y., & Hirose, S. (2009) · Genes & Development · doi:10.1101/gad.1774209 · Cited by 37 · see citing works
Tiwari, V. N., Jeong, J.-W., Wilson, B. J., Behen, M. E., Chugani, H. T., & Sundaram, S. K. (2012) · NeuroImage · doi:10.1016/j.neuroimage.2011.07.067 · Cited by 31 · see citing works
Self-citationJeong, J., Asano, E., Juhász, C., & Chugani, H. T. (2014) · Epilepsia · doi:10.1111/epi.12863 · Cited by 30 · see citing works
Self-citationJeong, J., Sundaram, S. K., Behen, M. E., & Chugani, H. T. (2016) · American Journal of Neuroradiology · doi:10.3174/ajnr.a4662 · Cited by 24 · see citing works
Self-citationJeong, J., Asano, E., Yeh, F.-C. F., Chugani, D. C., & Chugani, H. T. (2012) · Magnetic Resonance in Medicine · doi:10.1002/mrm.24487 · Cited by 20 · see citing works
Self-citationJeong, J., Sundaram, S. K., Kumar, A., Chugani, D. C., & Chugani, H. T. (2010) · American Journal of Neuroradiology · doi:10.3174/ajnr.a2382 · Cited by 18 · see citing works
Self-citationThalamocortical Topography Reloaded
Marín, Ó. (2003) · Neuron · doi:10.1016/s0896-6273(03)00471-9 · Cited by 16 · see citing works
Gopal, S. P., Tiwari, V. N., Veenstra, A. L., Kumar, A., Behen, M. E., Chugani, H. T., & Sundaram, S. K. (2011) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2011.06.036 · Cited by 11 · see citing works
Self-citationExome sequencing and diffusion tensor imaging in developmental disabilities
Sundaram, S. K., Huq, A. M., Hsia, T., & Chugani, H. T. (2013) · Pediatric Research · doi:10.1038/pr.2013.234 · Cited by 9 · see citing works
Self-citation
Flagged first, then by citations
Cited by
Sorted by citations
Neural histology and neurogenesis of the human fetal and infant brain
Kostović, I., Sedmak, G., & Judáš, M. (2018) · NeuroImage · doi:10.1016/j.neuroimage.2018.12.043 · Cited by 259 · see citing works
A catalog of single nucleotide changes distinguishing modern humans from archaic hominins
Kuhlwilm, M., & Boeckx, C. (2019) · Scientific Reports · doi:10.1038/s41598-019-44877-x · Cited by 108 · see citing works
Tang, X., Zhang, H., Zhou, J., Kang, H., Yang, S., Cui, H., & Peng, Y. (2020) · Pediatric Investigation · doi:10.1002/ped4.12237 · Cited by 7 · see citing works
Jeong, J., Banerjee, S., Lee, M., O'Hara, N. B., Behen, M. E., Juhász, C., & Dong, M. (2021) · Human Brain Mapping · doi:10.1002/hbm.25437 · Cited by 7 · see citing works
Self-citation(2016) · Journal of Magnetic Resonance Imaging · doi:10.1002/jmri.25545 · Cited by 1 · see citing works
- Authors
- Jeong, J.-W., Sundaram, S., Behen, M. E., & Chugani, H. T.
- Affiliations
- Wayne State University (US)
- Alfred I. duPont Hospital for Children (US)
- Corresponding author
- Jeong, Jeong-Won
- Venue
- Journal of Magnetic Resonance Imaging
- Publisher
- Wiley
- Published
- 2016-06-02
- Volume
- 44
- Issue
- 6
- Pages
- 1504-1512
- ISSN
- 1053-1807 (ISSN-L)
- PMC
- PMC5118183
- OpenAlex
- W2421055376
- Cited by
- 5
- References
- 33
- Citations by year
- 2021: 1 · 2020: 1 · 2019: 1 · 2018: 1 · 2016: 1
- FWCI
- 0.81
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Journal of Magnetic Resonance Imaging (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institute of Neurological Disorders and Stroke (R01-NS089659)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Health Sciences › Medicine › Radiology, Nuclear Medicine and Imaging › Advanced Neuroimaging Techniques and Applications
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Fetal and Pediatric Neurological Disorders
- Keywords
- arcuate fasciculus, global developmental delay, genotypes, genetic mutations, language pathways, diffusion tensor imaging, fiber volume content, MID1, CDK4, SFRP1, EN2, MeCP2, expressive language, receptive language, children
- MeSH terms
- Developmental Disabilities, Child, Preschool, Female, Genotype, Humans, Male, Neural Pathways, Parietal Lobe, Pilot Projects, Sensitivity and Specificity, Temporal Lobe, Reproducibility of Results, Genetic Predisposition to Disease, Diffusion Tensor Imaging, Genetic Association Studies
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
