Abnormal Language Pathway in Children With Angelman Syndrome
Open accessAbstract
Angelman syndrome is a genetic disorder characterized by pervasive developmental disability with failure to develop speech. We examined the basis for severe language delay in patients with Angelman syndrome by diffusion tensor imaging. Magnetic resonance imaging/diffusion tensor imaging was performed in 7 children with genetically confirmed Angelman syndrome (age 70 ± 26 months, 5 boys) and 4 age-matched control children to investigate the microstructural integrity of arcuate fasciculus and other major association tracts. Six of 7 children with Angelman syndrome had unidentifiable left arcuate fasciculus, while all control children had identifiable arcuate fasciculus. The right arcuate fasciculus was absent in 6 of 7 children with Angelman syndrome and 1 of 4 control children. Diffusion tensor imaging color mapping suggested aberrant morphology of the arcuate fasciculus region. Other association tracts, including uncinate fasciculus, inferior fronto-occipital fasciculus, inferior longitudinal fasciculus, and corticospinal tract, were identifiable but manifested decreased fractional anisotropy in children with Angelman syndrome. Increased apparent diffusion coefficient was seen in all tracts except uncinate fasciculus when compared to control children. Patients with Angelman syndrome have global impairment of white matter integrity in association tracts, particularly the arcuate fasciculus, which reveals severe morphologic changes. This finding could be the result of a potential problem with axon guidance during brain development, possibly due to loss of UBE3A gene expression.
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MRI and diffusion tensor imaging studies have revealed impaired white matter integrity in subjects with Angelman syndrome, likely due to a delay in myelination.
“MRI and diffusion tensor imaging studies have revealed impaired white matter integrity in subjects with Angelman’s syndrome [281, 354, 388], likely due to a delay in myelination [146].”
From Autism spectrum disorder: neuropathology and animal models (2017) · cites this paper as [388]
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Additional file 1 of Cortical and subcortical morphological alteration in Angelman syndrome
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- Authors
- 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.
- Affiliations
- Wayne State University (US)
- Venue
- Pediatric Neurology
- Publisher
- Elsevier BV
- Published
- 2011-05
- Volume
- 44
- Issue
- 5
- Pages
- 350-356
- ISSN
- 0887-8994 (ISSN-L)
- PMC
- PMC3075431
- OpenAlex
- W2041172688
- Cited by
- 60
- References
- 25
- Citations by year
- 2026: 2 · 2024: 3 · 2023: 2 · 2022: 4 · 2021: 1 · 2020: 16 · 2019: 3 · 2018: 2 · 2017: 3 · 2016: 7 · 2015: 3 · 2014: 3 · 2013: 6 · 2012: 2
- FWCI
- 2.59
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Pediatric Neurology (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- U.S. Public Health Service (NICHD1R01HD059817-01A1, NICHD R01HD059817-01A1)
- National Institute of Neurological Disorders and Stroke (NINDS R01 NS 34488, R01NS034488)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01HD059817)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Syndromes and Imprinting
- Health Sciences › Medicine › Radiology, Nuclear Medicine and Imaging › Advanced Neuroimaging Techniques and Applications
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- Angelman syndrome, language delay, arcuate fasciculus, white matter integrity, association tracts, fractional anisotropy, apparent diffusion coefficient, UBE3A, axon guidance, developmental neuroscience, children
- MeSH terms
- Analysis of Variance, Brain, Brain Mapping, Child, Child, Preschool, Female, Humans, Language Development Disorders, Functional Laterality, Magnetic Resonance Imaging, Male, Neural Pathways, Neuropsychological Tests, Angelman Syndrome
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 ›
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