1. Heterotopia in Individuals with 22q11.2 Deletion Syndrome
- Author
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Carrie E. Bearden, E. Steidl, Amy Lin, Alina Jurcoane, F. Rosenow, Theodor Rüber, N. Polomac, E. Herrmann, Ariana Vajdi, Christine Ecker, E. Neuhaus, S. Breuer, Elke Hattingen, and Leila Kushan
- 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 - 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.
- Published
- 2021