ArticleAJNR. American journal of neuroradiology2021
Heterotopia in Individuals with 22q11.2 Deletion Syndrome.
Article in AJNR. American journal of neuroradiology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 8 citations in OpenAlex.
- Article
- Successful use of clozapine in a patient with schizophrenia comorbid with 22q11.2 deletion syndrome and multiple periventricular nodular heterotopia: A case report.PCN reports : psychiatry and clinical neurosciences · 2025Article
- Neurological Insights into 16p11.2- And 22q11.2-Related Disorders: A Mini-Review.Current genomics · 2025Review
- Case report: Periventricular heterotopia and early-onset bipolar disorder in adolescent patient with history of childhood attention deficit hyperactivity disorder.Frontiers in psychiatry · 2024Article
Corrections and comments
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Authors and funding
14 authors at 4 institutions in 5 countries.
Funding
Abstract
background and purposeMR 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
methodsThree 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.
resultsHeterotopia in the white matter were the most frequent finding in individuals with 22q11.2 deletion syndrome (
conclusionsTaken 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.
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