Abnormal Development and Dysconnectivity of Distinct Thalamic Nuclei in Patients With 22q11.2 Deletion Syndrome Experiencing Auditory Hallucinations

Mancini, Valentina; Zöller, Daniela; Schneider, Maude; Schaer, Marie; Eliez, Stéphan

doi:10.1016/j.bpsc.2020.04.015

Cited by 30 publications

(35 citation statements)

References 101 publications

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“…Since mid-brain regions are not included in our analysis, we do not know whether the same developmental pattern of HIP-VTA could be detected. However, the dorsal striatum is well connected to the mid-brain (71) and HIP-VTA hyperconnectivity has been reported in the 22q11DS population (72). Therefore, our results regarding cooccurrence of HIP-PFC dysconnectivity, on the one side, and HIP-striatal hyper-connectivity, on the other side, further confirm the hippocampus as a critical hub in this aberrant network (73).…”

Section: Discussionsupporting

confidence: 80%

Dysmaturation Observed as Altered Hippocampal Functional Connectivity at Rest Is Associated With the Emergence of Positive Psychotic Symptoms in Patients With 22q11 Deletion Syndrome

Delavari

Sandini

Zöller

et al. 2021

Biological Psychiatry

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Section: Discussionsupporting

confidence: 80%

Dysmaturation Observed as Altered Hippocampal Functional Connectivity at Rest Is Associated With the Emergence of Positive Psychotic Symptoms in Patients With 22q11 Deletion Syndrome

Delavari

Sandini

Zöller

et al. 2021

Biological Psychiatry

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“…These findings go in line with prior investigations indicating abnormal developmental trajectories of MGN volume and immature pattern of connectivity with primary and secondary auditory cortices in 22q11.2 DS. 31 Interestingly, MGN was shown to be hyperconnected to auditory cortical regions at rest, with a negative correlation between the connectivity and its volume (the higher the connectivity, the lower MGN volume) in 22q11.2 deletion carriers experiencing auditory hallucinations, suggesting that psychotic deletion carriers exhibit hyperactivity of the brain regions underlying auditory processing at rest and abnormally activate the same network during an auditory task. 31 In addition, the structural changes, such as left-sided volume reduction of the STG in 22q11.2DSH + group might be related to hallucinatory experiences as previously reported in both 22q11.2 DS youth 8 , 9 and schizophrenia.…”

Section: Discussionmentioning

confidence: 98%

“… 44 The quality of the segmentation was ensured by visual inspection, following a quality control procedure used in previous work. 31 , 45 Due to the specific hypotheses of the study, only the bilateral volumes of the STG, transverse gyrus, and MGN were considered for the analyses.…”

Section: Methodsmentioning

confidence: 99%

“…In 22q11.2 deletion carriers, decreased MMN observed during adolescence, 16 a period of considerable brain changes, might also indicate cortical gray matter loss over temporal cortical areas 7 , 29 and aberrant thalamo-cortical projections, from MGN to the auditory cortices. 30 , 31 To test this hypothesis, the current study investigates the link between the structural volumetric changes within the cortical and thalamic auditory areas and the MMN in participants with 22q11.2 DS compared to typically developing (TD) individuals. Based on prior investigations indicating that scalp electroencephalogram (EEG) can sense both cortical and thalamic activation, 32 we focus on three main regions of interest previously reported to be reduced in 22q11.2 deletion carriers that might have an impact on the MMN 5 , 31 , 33 : the thalamus (MGN), the primary auditory area (transverse temporal gyrus), and the secondary auditory area (STG).…”

Section: Introductionmentioning

confidence: 99%

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Abnormal Auditory Processing and Underlying Structural Changes in 22q11.2 Deletion Syndrome

Cantonas

Mancini

Rihs

et al. 2020

Schizophrenia Bulletin

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The 22q11.2 deletion syndrome (22q11.2 DS), one of the highest genetic risk for the development of schizophrenia, offers a unique opportunity to understand neurobiological and functional changes preceding the onset of the psychotic illness. Reduced auditory mismatch negativity response (MMN) has been proposed as a promising index of abnormal sensory processing and brain pathology in schizophrenia. However, the link between the MMN response and its underlying cerebral mechanisms in 22q11.2 DS remains unexamined. We measured auditory-evoked potentials to frequency deviant stimuli with high-density electroencephalogram and volumetric estimates of cortical and thalamic auditory areas with structural T1-weighted magnetic resonance imaging in a sample of 130 individuals, 70 with 22q11.2 DS and 60 age-matched typically developing (TD) individuals. Compared to TD group, the 22q11.2 deletion carriers reveal reduced MMN response and significant changes in topographical maps and decreased gray matter volumes of cortical and subcortical auditory areas, however, without any correlations between MMN alteration and structural changes. Furthermore, exploratory research on the presence of hallucinations (H+\H−) reveals no change in MMN response in 22q11.2DS (H+ and H−) as compared to TD individuals. Nonetheless, we observe bilateral volume reduction of the superior temporal gyrus and left medial geniculate in 22q11.2DSH+ as compared to 22q11.2DSH− and TD participants. These results suggest that the mismatch response might be a promising neurophysiological marker of functional changes within the auditory pathways that might underlie elevated risk for the development of psychotic symptoms.

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“…Interestingly, reductions in these regions have been specifically observed in syndromic individuals with full-blown psychosis (22,40) as well as in idiopathic schizophrenia (41,42), suggesting that thinner cortex in these regions may be of specific relevance for the emergence of the illness. In a recent study on a partially overlapping sample, we showed that in individuals with 22q11DS experiencing auditory hallucinations, functional hyperconnectivity between the anterior STG and the medial geniculate nucleus (MGN) of the thalamus was associated with MGN atrophy (43). Our current findings suggest that anatomical alterations in the anterior STG may also be potentially involved.…”

Section: Discussionmentioning

confidence: 99%

Altered cortical thickness development in 22q11.2 deletion syndrome and association with psychotic symptoms

Bagautdinova

Zöller

Schaer

et al. 2020

Preprint

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Schizophrenia has been extensively associated with reduced cortical thickness (CT), and its neurodevelopmental origin is increasingly acknowledged. However, the exact timing and extent of alterations occurring in preclinical phases remain unclear. With a high prevalence of psychosis, 22q11.2 deletion syndrome (22q11DS) is a neurogenetic disorder that represents a unique opportunity to examine brain maturation in high-risk individuals. In this study, we quantified trajectories of CT maturation in 22q11DS and examined the association of CT development with the emergence of psychotic symptoms. Longitudinal structural MRI data with 1-6 time points were collected from 324 participants aged 5-35 years (N=148 22q11DS, N=176 controls), resulting in a total of 636 scans (N=334 22q11DS, N=302 controls). Mixed model regression analyses were used to compare CT trajectories between participants with 22q11DS and controls. Further, CT trajectories were compared between participants with 22q11DS who developed (N=61, 146 scans), or remained exempt of (N=47; 98 scans) positive psychotic symptoms during development. Compared to controls, participants with 22q11DS showed widespread increased CT, focal reductions in the posterior cingulate gyrus and superior temporal gyrus (STG), and accelerated cortical thinning during adolescence, mainly in fronto-temporal regions. Within 22q11DS, individuals who developed psychotic symptoms showed exacerbated cortical thinning in the right STG. Together, these findings suggest that genetic predisposition for psychosis is associated with increased CT starting from childhood and altered maturational trajectories of CT during adolescence, affecting predominantly fronto-temporal regions. In addition, accelerated thinning in the STG may represent an early biomarker associated with the emergence of psychotic symptoms.

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Abnormal Development and Dysconnectivity of Distinct Thalamic Nuclei in Patients With 22q11.2 Deletion Syndrome Experiencing Auditory Hallucinations

Cited by 30 publications

References 101 publications

Dysmaturation Observed as Altered Hippocampal Functional Connectivity at Rest Is Associated With the Emergence of Positive Psychotic Symptoms in Patients With 22q11 Deletion Syndrome

Dysmaturation Observed as Altered Hippocampal Functional Connectivity at Rest Is Associated With the Emergence of Positive Psychotic Symptoms in Patients With 22q11 Deletion Syndrome

Abnormal Auditory Processing and Underlying Structural Changes in 22q11.2 Deletion Syndrome

Altered cortical thickness development in 22q11.2 deletion syndrome and association with psychotic symptoms

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