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  1. Article ; Online: Reply to "Is There an Association between Tuber Involvement of the Fusiform Face Area in Autism Diagnosis?"

    Cohen, Alexander L / Kroeck, Mallory R / Fox, Michael D

    Annals of neurology

    2023  Volume 93, Issue 6, Page(s) 1220–1222

    MeSH term(s) Humans ; Autistic Disorder/diagnosis ; Temporal Lobe ; Amygdala
    Language English
    Publishing date 2023-03-21
    Publishing country United States
    Document type Letter ; Research Support, Non-U.S. Gov't ; Research Support, N.I.H., Extramural ; Comment
    ZDB-ID 80362-5
    ISSN 1531-8249 ; 0364-5134
    ISSN (online) 1531-8249
    ISSN 0364-5134
    DOI 10.1002/ana.26634
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Face-Processing Performance is an Independent Predictor of Social Affect as Measured by the Autism Diagnostic Observation Schedule Across Large-Scale Datasets.

    Zagury-Orly, Ivry / Kroeck, Mallory R / Soussand, Louis / Cohen, Alexander Li

    Journal of autism and developmental disorders

    2021  Volume 52, Issue 2, Page(s) 674–688

    Abstract: Face-processing deficits, while not required for the diagnosis of autism spectrum disorder (ASD), have been associated with impaired social skills-a core feature of ASD; however, the strength and prevalence of this relationship remains unclear. Across ... ...

    Abstract Face-processing deficits, while not required for the diagnosis of autism spectrum disorder (ASD), have been associated with impaired social skills-a core feature of ASD; however, the strength and prevalence of this relationship remains unclear. Across 445 participants from the NIMH Data Archive, we examined the relationship between Benton Face Recognition Test (BFRT) performance and Autism Diagnostic Observation Schedule-Social Affect (ADOS-SA) scores. Lower BFRT scores (worse face-processing performance) were associated with higher ADOS-SA scores (higher ASD severity)-a relationship that held after controlling for other factors associated with face processing, i.e., age, sex, and IQ. These findings underscore the utility of face discrimination, not just recognition of facial emotion, as a key covariate for the severity of symptoms that characterize ASD.
    MeSH term(s) Autism Spectrum Disorder/diagnosis ; Autistic Disorder ; Facial Recognition ; Humans ; Recognition, Psychology ; Social Skills
    Language English
    Publishing date 2021-03-20
    Publishing country United States
    Document type Journal Article
    ZDB-ID 391999-7
    ISSN 1573-3432 ; 0162-3257
    ISSN (online) 1573-3432
    ISSN 0162-3257
    DOI 10.1007/s10803-021-04971-4
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Tubers Affecting the Fusiform Face Area Are Associated with Autism Diagnosis.

    Cohen, Alexander L / Kroeck, Mallory R / Wall, Juliana / McManus, Peter / Ovchinnikova, Arina / Sahin, Mustafa / Krueger, Darcy A / Bebin, E Martina / Northrup, Hope / Wu, Joyce Y / Warfield, Simon K / Peters, Jurriaan M / Fox, Michael D

    Annals of neurology

    2022  Volume 93, Issue 3, Page(s) 577–590

    Abstract: Objective: Tuberous sclerosis complex (TSC) is associated with focal brain "tubers" and a high incidence of autism spectrum disorder (ASD). The location of brain tubers associated with autism may provide insight into the neuroanatomical substrate of ASD ...

    Abstract Objective: Tuberous sclerosis complex (TSC) is associated with focal brain "tubers" and a high incidence of autism spectrum disorder (ASD). The location of brain tubers associated with autism may provide insight into the neuroanatomical substrate of ASD symptoms.
    Methods: We delineated tuber locations for 115 TSC participants with ASD (n = 31) and without ASD (n = 84) from the Tuberous Sclerosis Complex Autism Center of Excellence Research Network. We tested for associations between ASD diagnosis and tuber burden within the whole brain, specific lobes, and at 8 regions of interest derived from the ASD neuroimaging literature, including the anterior cingulate, orbitofrontal and posterior parietal cortices, inferior frontal and fusiform gyri, superior temporal sulcus, amygdala, and supplemental motor area. Next, we performed an unbiased data-driven voxelwise lesion symptom mapping (VLSM) analysis. Finally, we calculated the risk of ASD associated with positive findings from the above analyses.
    Results: There were no significant ASD-related differences in tuber burden across the whole brain, within specific lobes, or within a priori regions derived from the ASD literature. However, using VLSM analysis, we found that tubers involving the right fusiform face area (FFA) were associated with a 3.7-fold increased risk of developing ASD.
    Interpretation: Although TSC is a rare cause of ASD, there is a strong association between tuber involvement of the right FFA and ASD diagnosis. This highlights a potentially causative mechanism for developing autism in TSC that may guide research into ASD symptoms more generally. ANN NEUROL 2023;93:577-590.
    MeSH term(s) Humans ; Autistic Disorder ; Autism Spectrum Disorder/pathology ; Tuberous Sclerosis/complications ; Brain/pathology ; Neuroimaging ; Magnetic Resonance Imaging/methods
    Language English
    Publishing date 2022-11-30
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 80362-5
    ISSN 1531-8249 ; 0364-5134
    ISSN (online) 1531-8249
    ISSN 0364-5134
    DOI 10.1002/ana.26551
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Tuber Locations Associated with Infantile Spasms Map to a Common Brain Network.

    Cohen, Alexander L / Mulder, Brechtje P F / Prohl, Anna K / Soussand, Louis / Davis, Peter / Kroeck, Mallory R / McManus, Peter / Gholipour, Ali / Scherrer, Benoit / Bebin, E Martina / Wu, Joyce Y / Northrup, Hope / Krueger, Darcy A / Sahin, Mustafa / Warfield, Simon K / Fox, Michael D / Peters, Jurriaan M

    Annals of neurology

    2021  Volume 89, Issue 4, Page(s) 726–739

    Abstract: Objective: Approximately 50% of patients with tuberous sclerosis complex develop infantile spasms, a sudden onset epilepsy syndrome associated with poor neurological outcomes. An increased burden of tubers confers an elevated risk of infantile spasms, ... ...

    Abstract Objective: Approximately 50% of patients with tuberous sclerosis complex develop infantile spasms, a sudden onset epilepsy syndrome associated with poor neurological outcomes. An increased burden of tubers confers an elevated risk of infantile spasms, but it remains unknown whether some tuber locations confer higher risk than others. Here, we test whether tuber location and connectivity are associated with infantile spasms.
    Methods: We segmented tubers from 123 children with (n = 74) and without (n = 49) infantile spasms from a prospective observational cohort. We used voxelwise lesion symptom mapping to test for an association between spasms and tuber location. We then used lesion network mapping to test for an association between spasms and connectivity with tuber locations. Finally, we tested the discriminability of identified associations with logistic regression and cross-validation as well as statistical mediation.
    Results: Tuber locations associated with infantile spasms were heterogenous, and no single location was significantly associated with spasms. However, >95% of tuber locations associated with spasms were functionally connected to the globi pallidi and cerebellar vermis. These connections were specific compared to tubers in patients without spasms. Logistic regression found that globus pallidus connectivity was a stronger predictor of spasms (odds ratio [OR] = 1.96, 95% confidence interval [CI] = 1.10-3.50, p = 0.02) than tuber burden (OR = 1.65, 95% CI = 0.90-3.04, p = 0.11), with a mean receiver operating characteristic area under the curve of 0.73 (±0.1) during repeated cross-validation.
    Interpretation: Connectivity between tuber locations and the bilateral globi pallidi is associated with infantile spasms. Our findings lend insight into spasm pathophysiology and may identify patients at risk. ANN NEUROL 2021;89:726-739.
    MeSH term(s) Age of Onset ; Brain Mapping ; Cerebellar Nuclei/diagnostic imaging ; Cerebellar Nuclei/pathology ; Child, Preschool ; Connectome ; Female ; Globus Pallidus/diagnostic imaging ; Globus Pallidus/pathology ; Hamartoma/diagnostic imaging ; Hamartoma/pathology ; Humans ; Infant ; Magnetic Resonance Imaging ; Male ; Nerve Net/diagnostic imaging ; Nerve Net/pathology ; Prospective Studies ; ROC Curve ; Spasms, Infantile/diagnostic imaging ; Spasms, Infantile/pathology ; Tuberous Sclerosis/diagnostic imaging ; Tuberous Sclerosis/pathology
    Language English
    Publishing date 2021-01-21
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 80362-5
    ISSN 1531-8249 ; 0364-5134
    ISSN (online) 1531-8249
    ISSN 0364-5134
    DOI 10.1002/ana.26015
    Database MEDical Literature Analysis and Retrieval System OnLINE

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