From Learning to Memory: A Comparison Between Verbal and Non-verbal Skills in 22q11.2 Deletion Syndrome

Maeder, Johanna; Bostelmann, Mathilde; Schneider, Maude; Bortolin, Karin; Kliegel, Matthias; Eliez, Stéphan

doi:10.3389/fpsyt.2021.597681

Cited by 4 publications

(4 citation statements)

References 43 publications

(76 reference statements)

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“…Furthermore, we showed lower verbal (immediate and delayed) retention scores in children and adolescents with 22q11.2DS, even after controlling for their learning performance. Again, this finding does not align with results from a recent study demonstrating similar delayed recall performance between 22q11.2DS and HC after correcting for the initial learning rate (Maeder et al, 2021). This discrepancy may originate from differences in material used to assess verbal memory.…”

Section: Altered Developmental Trajectories In 22q112dscontrasting

confidence: 91%

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Altered developmental trajectories of verbal learning skills in 22q11.2DS: associations with hippocampal development and psychosis

et al. 2022

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Background The cognitive profile in 22q11.2 deletion syndrome (22q11.2DS) is often characterized by a discrepancy between nonverbal vs. verbal reasoning skills, in favor of the latter skills. This dissociation has also been observed in memory, with verbal learning skills described as a relative strength. Yet the development of these skills is still to be investigated. We thus aimed to explore verbal learning longitudinally. Furthermore, we explored verbal learning and its respective associations with hippocampal alterations and psychosis, which remain largely unknown despite their high prevalence in 22q11.2DS. Methods In total, 332 individuals (173 with 22q11.2DS) aged 5–30 years completed a verbal-paired associates task. Mixed-models regression analyses were conducted to explore developmental trajectories with threefold objectives. First, verbal learning and retention trajectories were compared between 22q11.2DS vs. HC. Second, we examined hippocampal volume development in 22q11.2DS participants with lower vs. higher verbal learning performance. Third, we explored verbal learning trajectories in 22q11.2DS participants with vs. without positive psychotic symptoms and with vs. without a psychotic spectrum disorder (PSD). Results Our findings first reveal lower verbal learning performance in 22q11.2DS, with a developmental plateau emerging from adolescence. Second, participants with lower verbal learning scores displayed a reduced left hippocampal tail volume. Third, participants with PSD showed a deterioration of verbal learning performance, independently of verbal reasoning skills. Conclusion Our study challenges the current view of preserved verbal learning skills in 22q11.2DS and highlights associations with specific hippocampal alterations. We further identify verbal learning as a novel cognitive marker for psychosis in 22q11.2DS.

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Section: Altered Developmental Trajectories In 22q112dscontrasting

confidence: 91%

“…Regarding clinical implications, our findings challenge the common view that, to acquire knowledge, 22q11.2DS individuals should rely on the verbal modality, given their visuospatial deficits (Maeder et al, 2021). More nuanced recommendations are needed to support verbal learning in 22q11.2DS.…”

Section: Limitations Clinical Implications and Future Directionscontrasting

confidence: 50%

Altered developmental trajectories of verbal learning skills in 22q11.2DS: associations with hippocampal development and psychosis

et al. 2022

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“…Additionally, regarding the involvement of the anteroventral thalamus in μCAP1, the hippocampus‐anteroventral thalamus‐prefrontal pathway that has been well‐characterized in mice (Wright et al, 2010 ), and is a known circuit for memory and temporal processing (Nelson, 2021 ), is an executive process that is impaired in patients with 22q11.2DS (Maeder et al, 2021 ). In fact, impairment of the hippocampus‐thalamus‐prefrontal circuits has been discussed as a possible biomarker of patients with 22q11.2DS (Mancini et al, 2020 ; Schleifer et al, 2019 ).…”

Section: Discussionmentioning

confidence: 99%

Thalamic contributions to psychosis susceptibility: Evidence from co‐activation patterns accounting for intra‐seed spatial variability (μCAPs)

Delavari,

Sandini,

Kojovic

et al. 2024

Human Brain Mapping

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The temporal variability of the thalamus in functional networks may provide valuable insights into the pathophysiology of schizophrenia. To address the complexity of the role of the thalamic nuclei in psychosis, we introduced micro‐co‐activation patterns (μCAPs) and employed this method on the human genetic model of schizophrenia 22q11.2 deletion syndrome (22q11.2DS). Participants underwent resting‐state functional MRI and a data‐driven iterative process resulting in the identification of six whole‐brain μCAPs with specific activity patterns within the thalamus. Unlike conventional methods, μCAPs extract dynamic spatial patterns that reveal partially overlapping and non‐mutually exclusive functional subparts. Thus, the μCAPs method detects finer foci of activity within the initial seed region, retaining valuable and clinically relevant temporal and spatial information. We found that a μCAP showing co‐activation of the mediodorsal thalamus with brain‐wide cortical regions was expressed significantly less frequently in patients with 22q11.2DS, and its occurrence negatively correlated with the severity of positive psychotic symptoms. Additionally, activity within the auditory–visual cortex and their respective geniculate nuclei was expressed in two different μCAPs. One of these auditory–visual μCAPs co‐activated with salience areas, while the other co‐activated with the default mode network (DMN). A significant shift of occurrence from the salience+visuo‐auditory‐thalamus to the DMN + visuo‐auditory‐thalamus μCAP was observed in patients with 22q11.2DS. Thus, our findings support existing research on the gatekeeping role of the thalamus for sensory information in the pathophysiology of psychosis and revisit the evidence of geniculate nuclei hyperconnectivity with the audio‐visual cortex in 22q11.2DS in the context of dynamic functional connectivity, seen here as the specific hyper‐occurrence of these circuits with the task‐negative brain networks.

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“…Additionally, regarding the involvement of the anteroventral thalamus in µCAP1, the hippocampusanteroventral thalamus-prefrontal pathway is a known circuit for memory and temporal processing [74], an executive process that is impaired in patients with 22q11.2DS [75]. In fact, impairment of the hippocampus-thalamus-prefrontal circuits has been discussed as a possible biomarker of patients with 22q11.2DS [72,76].…”

Section: Patterns With Clinical Association In Patients With 22q112dsmentioning

confidence: 99%

Thalamic contributions to psychosis susceptibility: Evidence from co-activation patterns accounting for intra-seed spatial variability (μCAPs)

Delavari

Sandini

Kojovic

et al. 2023

Preprint

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The temporal variability of the thalamus in functional networks may provide valuable insights into the pathophysiology of schizophrenia. To address the complexity of the role of the thalamic nuclei in psychosis, we introduced micro-co-activation patterns (μCAPs) by employing this method on the human genetic model of schizophrenia 22q11.2 deletion syndrome (22q11.2DS). Participants underwent resting-state functional MRI and a data-driven iterative process resulting in the identification of six whole-brain μCAPs with specific activity patterns within the thalamus. Unlike conventional methods, μCAPs extract dynamic spatial patterns that reveal partially overlapping and non-mutually exclusive functional subparts. Thus, the μCAPs method detects finer foci of activity within the initial seed region, retaining valuable and clinically relevant temporal and spatial information. We found that a μCAP showing co-activation of the mediodorsal thalamus with brain-wide cortical regions was significantly less frequent in patients with 22q11.2DS, and its occurrence negatively correlated with the severity of positive psychotic symptoms. Additionally, the activity within the auditory-visual cortex and their respective geniculate nuclei were expressed in two different μCAPs. One of these auditory-visual μCAPs co-activated with salience areas, while the other co-activated with the default mode network (DMN). A significant shift of occurrence from the salience+visuo-auditory-thalamus to the DMN+visuo-auditory-thalamus micro CAP was observed in patients with 22q11.2DS. Thus, our findings support existing research on the gatekeeping role of the thalamus for sensory information in the pathophysiology of psychosis and revisit the evidence of geniculate nuclei hyperconnectivity with the audio-visual cortex in 22q11.2DS in the context of dynamic functional connectivity as specific hyper-occurrence of these circuits with the task negative brain networks.

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From Learning to Memory: A Comparison Between Verbal and Non-verbal Skills in 22q11.2 Deletion Syndrome

Cited by 4 publications

References 43 publications

Altered developmental trajectories of verbal learning skills in 22q11.2DS: associations with hippocampal development and psychosis

Altered developmental trajectories of verbal learning skills in 22q11.2DS: associations with hippocampal development and psychosis

Thalamic contributions to psychosis susceptibility: Evidence from co‐activation patterns accounting for intra‐seed spatial variability (μCAPs)

Thalamic contributions to psychosis susceptibility: Evidence from co-activation patterns accounting for intra-seed spatial variability (μCAPs)

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