Deviant trajectories of cortical maturation in 22q11.2 deletion syndrome (22q11DS): A cross-sectional and longitudinal study

Schaer, Marie; Debbané, Martin; Cuadra, M. Bach; Ottet, Marie-Christine; Glaser, Bronwyn; Thiran, Jean-Philippe; Eliez, Stéphan

doi:10.1016/j.schres.2009.09.016

Cited by 108 publications

(148 citation statements)

References 55 publications

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“…However, contrarily to our results that indicate a dysfunction predominantly located within the frontal lobes, morphometric studies usually describe a relative preservation of the frontal volume in the syndrome (Eliez et al 2000;Kates et al 2001Kates et al , 2004Simon et al 2005). Nevertheless, localized frontal gray matter alterations have also been described (Shashi et al 2010;van Amelsvoort et al 2001;Schaer et al 2009;Bearden et al 2007) notably in regions that have a high degree in our discriminative graph, such as superior, medial (Schaer et al 2009), and orbital (Bearden et al 2007) frontal regions. These morphological alterations could be related to the underlying disruption of the structural network (He et al 2007;Lerch et al 2006;Alexander-Bloch et al 2013) and could also affect the function of the frontal lobe and its interactions with the rest of the brain.…”

Section: Discriminating Patients With 22q11ds From Healthy Controlssupporting

confidence: 59%

Identifying 22q11.2 Deletion Syndrome and Psychosis Using Resting-State Connectivity Patterns

et al. 2014

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The clinical picture associated with 22q11.2 deletion syndrome (22q11DS) includes mild mental retardation and an increased risk of schizophrenia. While the clinical phenotype has been related to structural brain network alterations, there is only scarce information about functional connectivity in 22q11DS. However, such studies could lead to a better comprehension of the disease and reveal potential biomarkers for psychosis. A connectivity decoding approach was used to discriminate between 42 patients with 22q11DS and 41 controls using resting-state connectivity. The same method was then applied within the 22q11DS group to identify brain connectivity patterns specifically related to the presence of psychotic symptoms. An accuracy of 84 % was achieved in differentiating patients with 22q11DS from controls. The discriminative connections were widespread, but predominantly located in the bilateral frontal and right temporal lobes, and were significantly correlated to IQ. An 88 % accuracy was obtained for identification of existing psychotic symptoms within the patients group. The regions containing most discriminative connections included the anterior cingulate cortex (ACC), the left superior temporal and the right inferior frontal gyri. Functional connectivity alterations in 22q11DS affect mostly frontal and right temporal lobes and are related to the syndrome's mild mental retardation. These results also provide evidence that resting-state connectivity can potentially become a biomarker for psychosis and that ACC plays an important role in the development of psychotic symptoms.

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Section: Discriminating Patients With 22q11ds From Healthy Controlssupporting

confidence: 59%

Identifying 22q11.2 Deletion Syndrome and Psychosis Using Resting-State Connectivity Patterns

et al. 2014

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“…For instance, altered cortical thickness in the orbitofrontal cortex (Jalbrzikowski et al, 2013), volumetric reductions in the temporal lobe (Kates et al, 2011), and reductions in overall gyrification (Kunwar et al, 2012) have been related to positive symptoms in these patients. Cortical thickness reductions in left superior frontal gyrus and in the fusiform and lingual gyri have also been observed in patients with 22q11DS who have been diagnosed with schizophrenia compared to those who have not (Schaer et al, 2009). However, most of these findings refer mainly to positive symptoms.…”

Section: Introductionmentioning

confidence: 86%

“…The cross-sectional sample of patients with 22q11DS included in the analysis was collected in the context of a longitudinal study started in 2002 (Maeder et al, 2016;Schaer et al, 2009). Information regarding the selection of patients for this study, along with their demographic details, is reported in the Supplementary material.…”

Section: Participantsmentioning

confidence: 99%

Morphological brain changes associated with negative symptoms in patients with 22q11.2 Deletion Syndrome

Mihailov

Padula

Scariati

et al. 2017

Schizophrenia Research

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Approximately 30% of individuals with 22q11.2 Deletion Syndrome (22q11DS) develop schizophrenia during adolescence/early adulthood, making this syndrome a model for the disorder. Furthermore, negative symptoms exist in up to 80% of patients diagnosed with 22q11DS. The present study aims to uncover morphological brain alterations associated with negative symptoms in a cohort of patients with 22q11DS who are at-risk for developing schizophrenia. A total of 71 patients with 22q11DS aged 12 to 35 (54% females) with no past or present diagnosis of a schizophrenia were included in the study. Psychotic symptom scores were used to divide patients into subgroups by means of a cluster analysis. Three major subgroups were evident: patients with low negative and positive symptoms; patients with high negative symptoms and low positive symptoms; and patients with high negative and positive symptoms. Cortical volume, thickness and gyrification were compared between subgroups using FreeSurfer software. Results showed that patients with high negative symptoms, compared to those with low negative symptoms, have decreased gyrification in the medial occipito-temporal (MOT) and lateral temporo-parietal (LTP) cortices of the left hemisphere, and in the medial temporal (MT)/posterior cingulate (PCC) cortices of the right hemisphere. These findings suggest that high negative symptoms are associated with gyrification reductions predominantly in medial occipital and temporal regions, which are areas implicated in social cognition and early visual processing. Furthermore, as cortical folding develops in utero and during the first years of life, reduced gyrification may represent an early biomarker predicting the development of negative symptoms.

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“…Cognitive delay, as well as increased prevalence of attention deficits, mood and anxiety disorders, is characteristic of this population (De Smedt et al, 2007a;Green et al, 2009). Concern relating to psychological health in these adolescents is matched by the neuroscientists' efforts to identify the neural markers associated with early schizotypal trait expression in 22q11DS (Schaer et al, 2009a;Gothelf et al, 2011). Indeed, in this deletion syndrome where 25-30% are thought to evolve into formal schizophrenia spectrum disorders by adulthood (Murphy et al, 1999), neurodevelopment during adolescence may provide key insights to understanding the unfolding of psychotic symptoms.…”

Section: Introductionmentioning

confidence: 99%

Resting-state networks in adolescents with 22q11.2 deletion syndrome: Associations with prodromal symptoms and executive functions

Debbané

Lazouret

Lagioia

et al. 2012

Schizophrenia Research

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Atypical functional connectivity in the maturing brains of 22q11.2 deletion syndrome (22q11DS) may contribute to the expression of early psychotic symptoms commonly reported by these youths. This study's objective was to examine functional connectivity in cerebral networks at rest (Resting-State Networks; RSNs) and their relationship to symptomatic and neuropsychological characteristics putting them at very high risk factor for developing psychosis. Twenty-seven adolescents with 22q11DS and 33 typically developing control adolescents matched for age, gender and handedness underwent an 8-minute resting state functional MRI session. RSNs identification procedure employed Independent Component Analysis (ICA). We tested for potential group differences in functional connectivity within-networks. Then, we examined relationships between network connectivity and symptomatic/neuropsychological characteristics in the 22q11DS group. A total of nine resting-state networks were identified. Between-group differences suggested both increased and decreased functional connectivity in the 22q11DS group, involving the default-mode, sensorimotor, visuo-spatial, and high level visual networks. Finally, atypical connectivity in the default-mode network, specifically within the left superior frontal gyrus region, correlated with prodromal symptom intensity and neuropsychological performances in the 22q11DS group. The results suggest that atypical functional connectivity may sustain both increased vulnerability to psychosis and characteristic cognitive impairments in 22q11DS.

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Deviant trajectories of cortical maturation in 22q11.2 deletion syndrome (22q11DS): A cross-sectional and longitudinal study

Cited by 108 publications

References 55 publications

Identifying 22q11.2 Deletion Syndrome and Psychosis Using Resting-State Connectivity Patterns

Identifying 22q11.2 Deletion Syndrome and Psychosis Using Resting-State Connectivity Patterns

Morphological brain changes associated with negative symptoms in patients with 22q11.2 Deletion Syndrome

Resting-state networks in adolescents with 22q11.2 deletion syndrome: Associations with prodromal symptoms and executive functions

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