INS NYC 2024 Program

Poster	Poster Session 10 Program Schedule 02/17/2024 09:00 am - 10:15 am Room: Shubert Complex (Posters 1-60) Poster Session 10: Neurodevelopmental \| Congenital Conditions Final Abstract #55 Exploring Neuropsychological Performance and Resting State Functional Connectivity in Aicardi Syndrome: A Case Study Valentina Papadopoulou, Aristotle University of Thessaloniki, Thessaloniki, Greece Soultana Georgiadou, Aristotle University of Thessaloniki and University of Thessaly, Thessaloniki, Greece Vasiliki Folia, Aristotle University of Thessaloniki, Thessaloniki, Greece Vassilios Kimiskidis, Aristotle University of Thessaloniki, Thessaloniki, Greece Vasileios Papaliagkas, International Hellenic University, Thessaloniki, Greece Alexandra Touroutoglou, Massachusetts General Hospital and Harvard Medical School, Cambridge, Greece Mary Kosmidis, Aristotle University of Thessaloniki, Thessaloniki, Greece Category: Behavioral Neurology/Cerebral Lateralization/Callosal Studies Keyword 1: corpus callosum Keyword 2: neuroimaging: functional connectivity Keyword 3: cognitive functioning Objective: The aim of this case study was to investigate the relationship between neuropsychological performance and functional connectivity in a high-functioning woman with Aicardi syndrome. It is the only report of Aicardi syndrome, to our knowledge, addressing this relationship. Aicardi syndrome is characterized by corpus callosal agenesis, infantile spasms and chorioretinal lacunae, and associated with a range of cortical lesions neurological and cognitive disorders, strongly correlated to each other. Participants and Methods: This was an exploratory case study of a 23-year-old woman diagnosed with Aicardi syndrome. Informed consent was provided for the procedures. A neuropsychological assessment was conducted examining intelligence, executive functioning, language, visuospatial abilities and affective cognition. Using intrinsic functional connectivity magnetic resonance imaging we explored the integrity of two large-scale functional networks of the Anterior Insula, assessing the within-networks connectivity strength between cerebral regions that significantly contribute to the aforementioned functions. Results: Attention and processing speed deficits were associated with reduced functional connectivity in the dorsal Anterior Insula and Anterior Cingulate Cortex (rdAI-rdACC, r=0.01/rdAI-ldACC, r=0.05) of the Dorsal Anterior Insula Network, whereas fluctuating performance in executive functions and intelligence was associated with a combination of weak and strong local and inter-hemispheric connections between key-regions in the same network. The strongest connections were observed between bilateral Middle Frontal Gyrus-bilateral Frontal Pole-bilateral dorsal ACC/paracingulate cortex, strongly related to working memory, inhibition, organization, integration and manipulation of information. The Ventral Anterior Insula Network is involved in emotional self-regulation and social cognition, and weak connections between major key-regions were consistent with alexithymia and Theory of Mind deficits exhibited in the patient's neuropsychological findings. Weak connectivity strength was detected between right ventral Anterior Insula-bilateral pregenualACC (rvAI-rpgACC, r=0.07, rvAI-lpgACC, r=0.11), associated with emotion processing, though within normal range were the connectivity values between left ventral Anterior Insula-bilateral pregenualACC (lvAI-rpgACC, r=0.23, lvAI-lpgACC, r=0.23), right ventral Anterior Insula-bilateral lateral Orbitofrontal Cortex (rvAI-rlOFC, r=0.70; rvAI-llOFC, r=0.21) and right ventral Anterior Insula-ventral Striatum (rvAI-rSubInn, r=0.32), which are involved in subjective arousal. Impairment in cognitive processing of emotional stimuli may result in the production of inappropriate affective responses and impaired autonomic sympathetic arousal, reflected in the patient’s difficulties in interpretation, experiencing and cognitive processing of emotion. Regarding her performance on the ToM task, connectivity values between Substantia Innominata-pregenualACC (affective aspect of ToM) and paracingulate gyrus of ACC-Putamen (cognitive aspect of ToM) were examined. Correlations between pregenualACC-paracingulate gyrus of ACC were assessed to evaluate the integrity of connections within the ACC, which constitutes the hub for the integration of affective and cognitive processes. However, the functional connectivity between pregenualACC-paracingulate gyrus of ACC were found to be the only sufficient (lpgACC-lparadACC, r=0.51/lparadACC-rparadACC, r=0.85/rparad-rpgACC, r=.0.57/rpgACC-lpgACC, r=0.85) suggesting that deficits in Theory of Mind cannot be exclusively attributed to corpus callosal agenesis. Conclusions: This study is the first, to our knowledge, to employ resting-state fMRI imaging in relation to neuropsychological profile in Aicardi syndrome. Overall, the functional connectivity in the Anterior Insula Networks mirrored the patient's higher cognitive functioning performance, potentially related to reorganization of neuronal pathways secondary to corpus callosal agenesis.

Poster

02/17/2024
09:00 am - 10:15 am
Room: Shubert Complex (Posters 1-60)

Poster Session 10: Neurodevelopmental | Congenital Conditions

Final Abstract #55

Exploring Neuropsychological Performance and Resting State Functional Connectivity in Aicardi Syndrome: A Case Study

Valentina Papadopoulou, Aristotle University of Thessaloniki, Thessaloniki, Greece
Soultana Georgiadou, Aristotle University of Thessaloniki and University of Thessaly, Thessaloniki, Greece
Vasiliki Folia, Aristotle University of Thessaloniki, Thessaloniki, Greece
Vassilios Kimiskidis, Aristotle University of Thessaloniki, Thessaloniki, Greece
Vasileios Papaliagkas, International Hellenic University, Thessaloniki, Greece
Alexandra Touroutoglou, Massachusetts General Hospital and Harvard Medical School, Cambridge, Greece
Mary Kosmidis, Aristotle University of Thessaloniki, Thessaloniki, Greece

Category: Behavioral Neurology/Cerebral Lateralization/Callosal Studies

Keyword 1: corpus callosum
Keyword 2: neuroimaging: functional connectivity
Keyword 3: cognitive functioning

Objective:

The aim of this case study was to investigate the relationship between neuropsychological performance and functional connectivity in a high-functioning woman with Aicardi syndrome. It is the only report of Aicardi syndrome, to our knowledge, addressing this relationship. Aicardi syndrome is characterized by corpus callosal agenesis, infantile spasms and chorioretinal lacunae, and associated with a range of cortical lesions neurological and cognitive disorders, strongly correlated to each other.

Participants and Methods:

This was an exploratory case study of a 23-year-old woman diagnosed with Aicardi syndrome. Informed consent was provided for the procedures. A neuropsychological assessment was conducted examining intelligence, executive functioning, language, visuospatial abilities and affective cognition. Using intrinsic functional connectivity magnetic resonance imaging we explored the integrity of two large-scale functional networks of the Anterior Insula, assessing the within-networks connectivity strength between cerebral regions that significantly contribute to the aforementioned functions.

Results:

Attention and processing speed deficits were associated with reduced functional connectivity in the dorsal Anterior Insula and Anterior Cingulate Cortex (rdAI-rdACC, r=0.01/rdAI-ldACC, r=0.05) of the Dorsal Anterior Insula Network, whereas fluctuating performance in executive functions and intelligence was associated with a combination of weak and strong local and inter-hemispheric connections between key-regions in the same network. The strongest connections were observed between bilateral Middle Frontal Gyrus-bilateral Frontal Pole-bilateral dorsal ACC/paracingulate cortex, strongly related to working memory, inhibition, organization, integration and manipulation of information. The Ventral Anterior Insula Network is involved in emotional self-regulation and social cognition, and weak connections between major key-regions were consistent with alexithymia and Theory of Mind deficits exhibited in the patient's neuropsychological findings. Weak connectivity strength was detected between right ventral Anterior Insula-bilateral pregenualACC (rvAI-rpgACC, r=0.07, rvAI-lpgACC, r=0.11), associated with emotion processing, though within normal range were the connectivity values between left ventral Anterior Insula-bilateral pregenualACC (lvAI-rpgACC, r=0.23, lvAI-lpgACC, r=0.23), right ventral Anterior Insula-bilateral lateral Orbitofrontal Cortex (rvAI-rlOFC, r=0.70; rvAI-llOFC, r=0.21) and right ventral Anterior Insula-ventral Striatum (rvAI-rSubInn, r=0.32), which are involved in subjective arousal. Impairment in cognitive processing of emotional stimuli may result in the production of inappropriate affective responses and impaired autonomic sympathetic arousal, reflected in the patient’s difficulties in interpretation, experiencing and cognitive processing of emotion. Regarding her performance on the ToM task, connectivity values between Substantia Innominata-pregenualACC (affective aspect of ToM) and paracingulate gyrus of ACC-Putamen (cognitive aspect of ToM) were examined. Correlations between pregenualACC-paracingulate gyrus of ACC were assessed to evaluate the integrity of connections within the ACC, which constitutes the hub for the integration of affective and cognitive processes. However, the functional connectivity between pregenualACC-paracingulate gyrus of ACC were found to be the only sufficient (lpgACC-lparadACC, r=0.51/lparadACC-rparadACC, r=0.85/rparad-rpgACC, r=.0.57/rpgACC-lpgACC, r=0.85) suggesting that deficits in Theory of Mind cannot be exclusively attributed to corpus callosal agenesis.

Conclusions:

This study is the first, to our knowledge, to employ resting-state fMRI imaging in relation to neuropsychological profile in Aicardi syndrome. Overall, the functional connectivity in the Anterior Insula Networks mirrored the patient's higher cognitive functioning performance, potentially related to reorganization of neuronal pathways secondary to corpus callosal agenesis.