Heterotopia in Individuals with 22q11.2 Deletion Syndrome.

Published on Oct 7, 2021in American Journal of Neuroradiology3.825
· DOI :10.3174/AJNR.A7283
E. Neuhaus , Elke Hattingen45
Estimated H-index: 45
+ 11 AuthorsLeila Kushan11
Estimated H-index: 11
(Semel Institute for Neuroscience and Human Behavior)
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Abstract
BACKGROUND AND PURPOSE: null 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. null MATERIALS AND METHODS: null 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. null RESULTS: null 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 null null CONCLUSIONS: null 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.
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References30
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#1Julio E. Villalon-Reina (SC: University of Southern California)H-Index: 14
#2Kenia Martínez (Complutense University of Madrid)H-Index: 20
Last. Jennifer K. Forsyth (UCLA: University of California, Los Angeles)H-Index: 20
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22q11.2 deletion syndrome (22q11DS)—a neurodevelopmental condition caused by a hemizygous deletion on chromosome 22—is associated with an elevated risk of psychosis and other developmental brain disorders. Prior single-site diffusion magnetic resonance imaging (dMRI) studies have reported altered white matter (WM) microstructure in 22q11DS, but small samples and variable methods have led to contradictory results. Here we present the largest study ever conducted of dMRI-derived measures of WM mic...
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#1Christopher B. Eaton (Cardiff University)H-Index: 2
#2Rhys H. Thomas (Cardiff University)H-Index: 27
Last. Marianne Bernadette van den Bree (Cardiff University)H-Index: 51
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Objective The true prevalence of epileptic seizures and epilepsy in 22q11.2 deletion syndrome (22q11.2DS) is unknown, because previous studies have relied on historical medical record review. Associations of epilepsy with other neurodevelopmental manifestations (eg, specific psychiatric diagnoses) remain unexplored. Methods The primary caregivers of 108 deletion carriers (mean age 13.6 years) and 60 control siblings (mean age 13.1 years) completed a validated epilepsy screening questionnaire. A ...
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#1Sarah E. Hopkins (Children's Hospital of Philadelphia)H-Index: 6
#2Madeline Chadehumbe (Children's Hospital of Philadelphia)H-Index: 4
Last. Donna M. McDonald-McGinn (Children's Hospital of Philadelphia)H-Index: 84
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: Children with 22q11.2 deletion syndrome often come to medical attention due to signs and symptoms of neurologic dysfunction. It is imperative to understand the expected neurologic development of patients with this diagnosis in order to be alert for the potential neurologic complications, including cortical malformations, tethered cord, epilepsy, and movement disorders. We present an update of brain imaging findings from the CHOP 22q and You Center, a review of the current literature, and our c...
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#1Arezoo Rezazadeh (Toronto Western Hospital)H-Index: 3
#2Eduard Bercovici (Toronto Western Hospital)H-Index: 7
Last. Danielle M. Andrade (Toronto Western Hospital)H-Index: 30
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Objective: We aimed to delineate the distribution of periventricular nodular heterotopia (PNH) in patients with 22q11.2 microdeletion syndrome (22q11.2DS) and place this in the context of other genetic forms of PNH. Methods: We retrospectively analyzed brain imaging and postmortem data available for adult patients with 22q11.2DS. We included only those with good quality MRI data (n = 29) in addition to two patients with PNH identified through postmortem studies. We also reviewed the pattern of P...
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#1Francesca Pizzo (AMU: Aix-Marseille University)H-Index: 10
#2Nicolas Roehri (AMU: Aix-Marseille University)H-Index: 9
Last. Fabrice Bartolomei (AMU: Aix-Marseille University)H-Index: 77
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SummaryObjective Defining the roles of heterotopic and normotopic cortex in the epileptogenic networks in patients with nodular heterotopia is challenging. To elucidate this issue, we compared heterotopic and normotopic cortex using quantitative signal analysis on stereoelectroencephalography (SEEG) recordings. Methods Clinically relevant biomarkers of epileptogenicity during ictal (epileptogenicity index; EI) and interictal recordings (high-frequency oscillation and spike) were evaluated in 19 ...
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#2Christopher R.K. Ching (SC: University of Southern California)H-Index: 28
Last. Carrie E. Bearden (Semel Institute for Neuroscience and Human Behavior)H-Index: 81
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Reciprocal chromosomal rearrangements at the 22q11.2 locus are associated with elevated risk of neurodevelopmental disorders. The 22q11.2 deletion confers the highest known genetic risk for schizophrenia, but a duplication in the same region is strongly associated with autism and is less common in schizophrenia cases than in the general population. Here we conducted the first study of 22q11.2 gene dosage effects on brain structure in a sample of 143 human subjects: 66 with 22q11.2 deletions (22q...
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#1Robert G. Wither (Toronto Western Hospital)H-Index: 3
#3Alex A. MacDonald (CAMH: Centre for Addiction and Mental Health)H-Index: 9
Last. Anne S. BassettH-Index: 35
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SummaryObjective Previous studies examining seizures in patients with 22q11.2 deletion syndrome (22q11.2DS) have focused primarily on children and adolescents. In this study we investigated the prevalence and characteristics of seizures and epilepsy in an adult 22q11.2DS population. Methods The medical records of 202 adult patients with 22q11.2DS were retrospectively reviewed for documentation of seizures, electroencephalography (EEG) reports, and magnetic resonance imaging (MRI) findings. Epile...
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#1Mercedes F. Paredes (UCSF: University of California, San Francisco)H-Index: 21
#2David James (UCSF: University of California, San Francisco)H-Index: 7
Last. Arturo Alvarez-Buylla (UCSF: University of California, San Francisco)H-Index: 120
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As the brain develops, neurons migrate from zones of proliferation to their final locations, where they begin to build circuits. Paredes et al. have discovered that shortly after birth, a group of neurons that proliferates near the ventricles migrates in chains alongside circulatory vessels into the frontal lobes (see the Perspective by McKenzie and Fishell). Young neurons that migrate postnatally into the anterior cingulate cortex then develop features of inhibitory interneurons. The number of ...
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#2Kathleen E. Sullivan (UPenn: University of Pennsylvania)H-Index: 47
22q11.2 deletion syndrome is the most common chromosomal microdeletion disorder and is characterized by a heterogeneous presentation involving multiple organ systems. In this Primer, McDonald-McGinn et al. focus on the current understanding of the phenotype and the genetic underpinnings.
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#1James E. Schmitt (HUP: Hospital of the University of Pennsylvania)H-Index: 11
#2James J. Yi (UPenn: University of Pennsylvania)H-Index: 13
Last. R.E. Gur (UPenn: University of Pennsylvania)H-Index: 23
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BACKGROUND AND PURPOSE: The 22q11.2 deletion syndrome is a common genetic microdeletion syndrome that results in cognitive delays and an increased risk of several psychiatric disorders, particularly schizophrenia. The current study investigates the prevalence of incidental neuroradiologic findings within this population and their relationships with psychiatric conditions. MATERIALS AND METHODS: Brain MR imaging from 58 individuals with 22q11.2 deletion syndrome was reviewed by board-certified ra...
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