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12 results on '"Bertelsen, Natasha"'

1. Pre-treatment clinical and gene expression patterns predict developmental change in early intervention in autism

Author

Lombardo, Michael V, Busuoli, Elena Maria, Schreibman, Laura, Stahmer, Aubyn C, Pramparo, Tiziano, Landi, Isotta, Mandelli, Veronica, Bertelsen, Natasha, Barnes, Cynthia Carter, Gazestani, Vahid, Lopez, Linda, Bacon, Elizabeth C, Courchesne, Eric, and Pierce, Karen

Subjects
Prevention, Mental Health, Brain Disorders, Autism, Pediatric, Clinical Research, Intellectual and Developmental Disabilities (IDD), Behavioral and Social Science, Genetics, Autism Spectrum Disorder, Autistic Disorder, Communication, Early Intervention, Educational, Gene Expression, Humans, Treatment Outcome, Biological Sciences, Medical and Health Sciences, Psychology and Cognitive Sciences, Psychiatry
Abstract

Early detection and intervention are believed to be key to facilitating better outcomes in children with autism, yet the impact of age at treatment start on the outcome is poorly understood. While clinical traits such as language ability have been shown to predict treatment outcome, whether or not and how information at the genomic level can predict treatment outcome is unknown. Leveraging a cohort of toddlers with autism who all received the same standardized intervention at a very young age and provided a blood sample, here we find that very early treatment engagement (i.e.,

Published
2021

2. Atypical genomic cortical patterning in autism with poor early language outcome.

Author

Lombardo, Michael V, Eyler, Lisa, Pramparo, Tiziano, Gazestani, Vahid H, Hagler, Donald J, Chen, Chi-Hua, Dale, Anders M, Seidlitz, Jakob, Bethlehem, Richard AI, Bertelsen, Natasha, Barnes, Cynthia Carter, Lopez, Linda, Campbell, Kathleen, Lewis, Nathan E, Pierce, Karen, and Courchesne, Eric

Abstract

[Figure: see text].

Published
2021

8. Differential functional neural circuitry behind autism subtypes with marked imbalance between social-communicative and restricted repetitive behavior symptom domains

Author

Bertelsen, Natasha, Landi, Isotta, Bethlehem, Richard A. I., Seidlitz, Jakob, Busuoli, Elena Maria, Mandelli, Veronica, Satta, Eleonora, Trakoshis, Stavros, Auyeung, Bonnie, Kundu, Prantik, Loth, Eva, Dumas, Guillaume, Baumeister, Sarah, Beckmann, Christian F., Bölte, Sven, Bourgeron, Thomas, Charman, Tony, Durston, Sarah, Ecker, Christine, Holt, Rosemary, Johnson, Mark H., Jones, Emily J. H., Mason, Luke, Meyer-Lindenberg, Andreas, Moessnang, Carolin, Oldehinkel, Marianne, Persico, Antonio, Tillmann, Julian, Williams, Steven C. R., Spooren, Will, Murphy, Declan G. M., Buitelaar, Jan K., Baron-Cohen, Simon, Lai, Meng-Chuan, and Lombardo, Michael V.

Abstract

Social-communication (SC) and restricted repetitive behaviors (RRB) are autism diagnostic symptom domains. SC and RRB severity can markedly differ within and between individuals and is underpinned by different neural circuitry and genetic mechanisms. Modeling SC-RRB balance could help identify how neural circuitry and genetic mechanisms map onto such phenotypic heterogeneity. Here we developed a phenotypic stratification model that makes highly accurate (96-98%) out-of-sample SC=RRB, SC>RRB, and RRB>SC subtype predictions. Applying this model to resting state fMRI data from the EU-AIMS LEAP dataset (n=509), we find replicable somatomotor-perisylvian hypoconnectivity in the SC>RRB subtype versus a typically-developing (TD) comparison group. In contrast, replicable motor-anterior salience hyperconnectivity is apparent in the SC=RRB subtype versus TD. Autism-associated genes affecting astrocytes, excitatory, and inhibitory neurons are highly expressed specifically within SC>RRB hypoconnected networks, but not SC=RRB hyperconnected networks. SC-RRB balance subtypes may indicate different paths individuals take from genome, neural circuitry, to the clinical phenotype.

Published
2020
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9. Pre-treatment clinical behavioral and blood leukocyte gene expression patterns predict rate of change in response to early intervention in autism

Author

Lombardo, Michael V., primary, Busuoli, Elena Maria, additional, Schreibman, Laura, additional, Stahmer, Aubyn C., additional, Pramparo, Tiziano, additional, Landi, Isotta, additional, Mandelli, Veronica, additional, Bertelsen, Natasha, additional, Barnes, Cynthia Carter, additional, Gazestani, Vahid, additional, Lopez, Linda, additional, Bacon, Elizabeth C., additional, Courchesne, Eric, additional, and Pierce, Karen, additional

Published
2020
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10. Atypical genomic patterning of the cerebral cortex in autism with poor early language outcome

Author

Lombardo, Michael V., primary, Eyler, Lisa, additional, Pramparo, Tiziano, additional, Gazestani, Vahid H., additional, Hagler, Donald J., additional, Chen, Chi-Hua, additional, Dale, Anders M., additional, Seidlitz, Jakob, additional, Bethlehem, Richard A. I., additional, Bertelsen, Natasha, additional, Barnes, Cynthia Carter, additional, Lopez, Linda, additional, Campbell, Kathleen, additional, Lewis, Nathan E., additional, Pierce, Karen, additional, and Courchesne, Eric, additional

Published
2020
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12. Imbalanced social-communicative and restricted repetitive behavior subtypes of autism spectrum disorder exhibit different neural circuitry.

Author

Bertelsen N, Landi I, Bethlehem RAI, Seidlitz J, Busuoli EM, Mandelli V, Satta E, Trakoshis S, Auyeung B, Kundu P, Loth E, Dumas G, Baumeister S, Beckmann CF, Bölte S, Bourgeron T, Charman T, Durston S, Ecker C, Holt RJ, Johnson MH, Jones EJH, Mason L, Meyer-Lindenberg A, Moessnang C, Oldehinkel M, Persico AM, Tillmann J, Williams SCR, Spooren W, Murphy DGM, Buitelaar JK, Baron-Cohen S, Lai MC, and Lombardo MV

Subjects
Child, Female, Humans, Magnetic Resonance Imaging, Male, Neurodevelopmental Disorders etiology, Autism Spectrum Disorder physiopathology, Child Behavior Disorders complications, Communication, Neural Pathways, Neurodevelopmental Disorders pathology, Stereotyped Behavior
Abstract

Social-communication (SC) and restricted repetitive behaviors (RRB) are autism diagnostic symptom domains. SC and RRB severity can markedly differ within and between individuals and may be underpinned by different neural circuitry and genetic mechanisms. Modeling SC-RRB balance could help identify how neural circuitry and genetic mechanisms map onto such phenotypic heterogeneity. Here, we developed a phenotypic stratification model that makes highly accurate (97-99%) out-of-sample SC = RRB, SC > RRB, and RRB > SC subtype predictions. Applying this model to resting state fMRI data from the EU-AIMS LEAP dataset (n = 509), we find that while the phenotypic subtypes share many commonalities in terms of intrinsic functional connectivity, they also show replicable differences within some networks compared to a typically-developing group (TD). Specifically, the somatomotor network is hypoconnected with perisylvian circuitry in SC > RRB and visual association circuitry in SC = RRB. The SC = RRB subtype show hyperconnectivity between medial motor and anterior salience circuitry. Genes that are highly expressed within these networks show a differential enrichment pattern with known autism-associated genes, indicating that such circuits are affected by differing autism-associated genomic mechanisms. These results suggest that SC-RRB imbalance subtypes share many commonalities, but also express subtle differences in functional neural circuitry and the genomic underpinnings behind such circuitry.

Published
2021
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