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Heterotopia in Individuals with 22q11.2 Deletion Syndrome
- Source :
- AJNR. American journal of neuroradiology, vol 42, iss 11, AJNR Am J Neuroradiol
- Publication Year :
- 2021
- Publisher :
- American Society of Neuroradiology (ASNR), 2021.
-
Abstract
- BACKGROUND AND PURPOSE: MR imaging studies and neuropathologic findings in individuals with 22q11.2 deletion syndrome show anomalous early brain development. We aimed to retrospectively evaluate cerebral abnormalities, focusing on gray matter heterotopia, and to correlate these with subjects’ neuropsychiatric impairments. MATERIALS AND METHODS: Three raters assessed gray matter heterotopia and other morphologic brain abnormalities on 3D T1WI and T2*WI in 75 individuals with 22q11.2 deletion syndrome (27 females, 15.5 [SD, 7.4] years of age) and 53 controls (24 females, 12.6 [SD, 4.7] years of age). We examined the association among the groups’ most frequent morphologic findings, general cognitive performance, and comorbid neuropsychiatric conditions. RESULTS: Heterotopia in the white matter were the most frequent finding in individuals with 22q11.2 deletion syndrome (n = 29; controls, n = 0; between-group difference, P < .001), followed by cavum septi pellucidi and/or vergae (n = 20; controls, n = 0; P < .001), periventricular cysts (n = 10; controls, n = 0; P = .007), periventricular nodular heterotopia (n = 10; controls, n = 0; P = .007), and polymicrogyria (n = 3; controls, n = 0; P = .3). However, individuals with these morphologic brain abnormalities did not differ significantly from those without them in terms of general cognitive functioning and psychiatric comorbidities. CONCLUSIONS: Taken together, our findings, periventricular nodular heterotopia or heterotopia in the white matter (possibly related to interrupted Arc cells migration), persistent cavum septi pellucidi and/or vergae, and formation of periventricular cysts, give clues to the brain development disorder induced by the 22q11.2 deletion syndrome. There was no evidence that these morphologic findings were associated with differences in psychiatric or cognitive presentation of the 22q11.2 deletion syndrome.
- Subjects :
- Gray matter heterotopia
Pathology
medicine.medical_specialty
Clinical Sciences
Pediatrics
Basic Behavioral and Social Science
White matter
Periventricular Nodular Heterotopia
Clinical Research
Behavioral and Social Science
DiGeorge Syndrome
medicine
Humans
2.1 Biological and endogenous factors
Radiology, Nuclear Medicine and imaging
Deletion syndrome
Effects of sleep deprivation on cognitive performance
Aetiology
Retrospective Studies
Arc (protein)
business.industry
Neurosciences
Brain
Cognition
Middle Aged
medicine.disease
Magnetic Resonance Imaging
Brain Disorders
Nuclear Medicine & Medical Imaging
Mental Health
Heterotopia (medicine)
medicine.anatomical_structure
Biomedical Imaging
Female
Neurology (clinical)
business
Subjects
Details
- ISSN :
- 1936959X and 01956108
- Volume :
- 42
- Database :
- OpenAIRE
- Journal :
- American Journal of Neuroradiology
- Accession number :
- edsair.doi.dedup.....63c68e200e6f774a3c3dfd88d1910c51