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48 results on '"Persico, A. M."'

1. Rare coding variation provides insight into the genetic architecture and phenotypic context of autism

Author

Fu, Jack M, Satterstrom, F Kyle, Peng, Minshi, Brand, Harrison, Collins, Ryan L, Dong, Shan, Wamsley, Brie, Klei, Lambertus, Wang, Lily, Hao, Stephanie P, Stevens, Christine R, Cusick, Caroline, Babadi, Mehrtash, Banks, Eric, Collins, Brett, Dodge, Sheila, Gabriel, Stacey B, Gauthier, Laura, Lee, Samuel K, Liang, Lindsay, Ljungdahl, Alicia, Mahjani, Behrang, Sloofman, Laura, Smirnov, Andrey N, Barbosa, Mafalda, Betancur, Catalina, Brusco, Alfredo, Chung, Brian HY, Cook, Edwin H, Cuccaro, Michael L, Domenici, Enrico, Ferrero, Giovanni Battista, Gargus, J Jay, Herman, Gail E, Hertz-Picciotto, Irva, Maciel, Patricia, Manoach, Dara S, Passos-Bueno, Maria Rita, Persico, Antonio M, Renieri, Alessandra, Sutcliffe, James S, Tassone, Flora, Trabetti, Elisabetta, Campos, Gabriele, Cardaropoli, Simona, Carli, Diana, Chan, Marcus CY, Fallerini, Chiara, Giorgio, Elisa, Girardi, Ana Cristina, Hansen-Kiss, Emily, Lee, So Lun, Lintas, Carla, Ludena, Yunin, Nguyen, Rachel, Pavinato, Lisa, Pericak-Vance, Margaret, Pessah, Isaac N, Schmidt, Rebecca J, Smith, Moyra, Costa, Claudia IS, Trajkova, Slavica, Wang, Jaqueline YT, Yu, Mullin HC, Cutler, David J, De Rubeis, Silvia, Buxbaum, Joseph D, Daly, Mark J, Devlin, Bernie, Roeder, Kathryn, Sanders, Stephan J, and Talkowski, Michael E

Subjects
Biological Sciences, Bioinformatics and Computational Biology, Genetics, Autism, Brain Disorders, Pediatric, Biotechnology, Intellectual and Developmental Disabilities (IDD), Human Genome, Mental Health, Clinical Research, Aetiology, 2.1 Biological and endogenous factors, Mental health, Autism Spectrum Disorder, Autistic Disorder, DNA Copy Number Variations, Genetic Predisposition to Disease, Humans, Mutation, Autism Sequencing Consortium, Broad Institute Center for Common Disease Genomics, iPSYCH-BROAD Consortium, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology
Abstract

Some individuals with autism spectrum disorder (ASD) carry functional mutations rarely observed in the general population. We explored the genes disrupted by these variants from joint analysis of protein-truncating variants (PTVs), missense variants and copy number variants (CNVs) in a cohort of 63,237 individuals. We discovered 72 genes associated with ASD at false discovery rate (FDR) ≤ 0.001 (185 at FDR ≤ 0.05). De novo PTVs, damaging missense variants and CNVs represented 57.5%, 21.1% and 8.44% of association evidence, while CNVs conferred greatest relative risk. Meta-analysis with cohorts ascertained for developmental delay (DD) (n = 91,605) yielded 373 genes associated with ASD/DD at FDR ≤ 0.001 (664 at FDR ≤ 0.05), some of which differed in relative frequency of mutation between ASD and DD cohorts. The DD-associated genes were enriched in transcriptomes of progenitor and immature neuronal cells, whereas genes showing stronger evidence in ASD were more enriched in maturing neurons and overlapped with schizophrenia-associated genes, emphasizing that these neuropsychiatric disorders may share common pathways to risk.

Published
2022

3. A human leukocyte antigen imputation study uncovers possible genetic interplay between gut inflammatory processes and autism spectrum disorders

Author

Lombardi, Laura, Le Clerc, Sigrid, Wu, Ching-Lien, Bouassida, Jihène, Boukouaci, Wahid, Sugusabesan, Sobika, Richard, Jean-Romain, Lajnef, Mohamed, Tison, Maxime, Le Corvoisier, Philippe, Barau, Caroline, Banaschewski, Tobias, Holt, Rosemary, Durston, Sarah, Persico, Antonio M., Oakley, Bethany, Loth, Eva, Buitelaar, Jan, Murphy, Declan, Leboyer, Marion, Zagury, Jean-François, and Tamouza, Ryad

Published
2023
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5. Cross-sectional and longitudinal neuroanatomical profiles of distinct clinical (adaptive) outcomes in autism

Author

Pretzsch, Charlotte M., Floris, Dorothea L., Schäfer, Tim, Bletsch, Anke, Gurr, Caroline, Lombardo, Michael V., Chatham, Chris H., Tillmann, Julian, Charman, Tony, Arenella, Martina, Jones, Emily, Ambrosino, Sara, Bourgeron, Thomas, Dumas, Guillaume, Cliquet, Freddy, Leblond, Claire S., Loth, Eva, Oakley, Bethany, Buitelaar, Jan K., Baron-Cohen, Simon, Beckmann, Christian F., Persico, Antonio M., Banaschewski, Tobias, Durston, Sarah, Freitag, Christine M., Murphy, Declan G. M., and Ecker, Christine

Published
2023
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6. Psychopharmacology in children and adolescents: unmet needs and opportunities

Author

Cortese, Samuele, Purper-Ouakil, Diane, Apter, Alan, Arango, Celso, Baeza, Inmaculada, Banaschewski, Tobias, Buitelaar, Jan, Castro-Fornieles, Josefina, Coghill, David, Cohen, David, Correll, Christoph U, Grünblatt, Edna, Hoekstra, Pieter J, James, Anthony, Jeppesen, Pia, Nagy, Péter, Pagsberg, Anne Katrine, Parellada, Mara, Persico, Antonio M, Roessner, Veit, Santosh, Paramala, Simonoff, Emily, Stevanovic, Dejan, Stringaris, Argyris, Vitiello, Benedetto, Walitza, Susanne, Weizman, Abraham, Wong, Ian C K, Zalsman, Gil, Zuddas, Alessandro, Carucci, Sara, Butlen-Ducuing, Florence, Tome, Maria, Bea, Myriam, Getin, Christine, Hovén, Nina, Konradsson-Geuken, Asa, Lamirell, Daphne, Olisa, Nigel, Nafria Escalera, Begonya, and Moreno, Carmen

Published
2024
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7. Differences in Intrinsic Gray Matter Connectivity and Their Genomic Underpinnings in Autism Spectrum Disorder

Author

Ahmad, Jumana, Ambrosino, Sara, Auyeung, Bonnie, Banaschewski, Tobias, Baron-Cohen, Simon, Baumeister, Sarah, Beckmann, Christian F., Bölte, Sven, Bourgeron, Thomas, Bours, Carsten, Brammer, Michael, Brandeis, Daniel, Brogna, Claudia, de Bruijn, Yvette, Buitelaar, Jan K., Chakrabarti, Bhismadev, Charman, Tony, Cornelissen, Ineke, Crawley, Daisy, Dell’Acqua, Flavio, Dumas, Guillaume, Durston, Sarah, Ecker, Christine, Faulkner, Jessica, Frouin, Vincent, Garcés, Pilar, Goyard, David, Ham, Lindsay, Hayward, Hannah, Hipp, Joerg, Holt, Rosemary, Johnson, Mark H., Jones, Emily J.H., Kundu, Prantik, Lai, Meng-Chuan, D’ardhuy, Xavier Liogier, Lombardo, Michael V., Loth, Eva, Lythgoe, David J., Mandl, René, Marquand, Andre, Mason, Luke, Mennes, Maarten, Meyer-Lindenberg, Andreas, Moessnang, Carolin, Bast, Nico, Murphy, Declan G.M., Oakley, Bethany, O’Dwyer, Laurence, Oldehinkel, Marianne, Oranje, Bob, Pandina, Gahan, Persico, Antonio M., Ruggeri, Barbara, Ruigrok, Amber, Sabet, Jessica, Sacco, Roberto, San José Cáceres, Antonia, Simonoff, Emily, Spooren, Will, Tillmann, Julian, Toro, Roberto, Tost, Heike, Waldman, Jack, Williams, Steve C.R., Wooldridge, Caroline, Zwiers, Marcel P., Leyhausen, Johanna, Schäfer, Tim, Gurr, Caroline, Berg, Lisa M., Seelemeyer, Hanna, Pretzsch, Charlotte M., Floris, Dorothea L., Chatham, Chris, and Murphy, Declan G.

Published
2024
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8. Autism Is Associated With Interindividual Variations of Gray and White Matter Morphology

Author

Buitelaar, Jan K., Ahmad, Jumana, Ambrosino, Sara, Auyeung, Bonnie, Banaschewski, Tobias, Baron-Cohen, Simon, Baumeister, Sarah, Beckmann, Christian F., Bölte, Sven, Bourgeron, Thomas, Bours, Carsten, Brammer, Michael, Brandeis, Daniel, Brogna, Claudia, de Bruijn, Yvette, Chakrabarti, Bhismadev, Charman, Tony, Cornelissen, Ineke, Crawley, Daisy, Dell’Acqua, Flavio, Dumas, Guillaume, Durston, Sarah, Ecker, Christine, Faulkner, Jessica, Frouin, Vincent, Garcés, Pilar, Goyard, David, Ham, Lindsay, Hayward, Hannah, Hipp, Joerg, Holt, Rosemary, Johnson, Mark H., Jones, Emily J.H., Kundu, Prantik, Lai, Meng-Chuan, Liogier d’Ardhuy, Xavier, Lombardo, Michael V., Loth, Eva, Lythgoe, David J., Mandl, René, Marquand, Andre, Mason, Luke, Mennes, Maarten, Meyer-Lindenberg, Andreas, Moessnang, Carolin, Mueller, Nico, Murphy, Declan G.M., Oakley, Bethany, O’Dwyer, Laurence, Oldehinkel, Marianne, Oranje, Bob, Pandina, Gahan, Persico, Antonio M., Rausch, Annika, Ruggeri, Barbara, Ruigrok, Amber, Sabet, Jessica, Sacco, Roberto, San José Cáceres, Antonia, Simonoff, Emily, Spooren, Will, Tillmann, Julian, Toro, Roberto, Tost, Heike, Waldman, Jack, Williams, Steve C.R., Wooldridge, Caroline, Ilioska, Iva, Mei, Ting, Zwiers, Marcel P., Forde, Natalie J., Floris, Dorothea L., Stones, Richard, Holt, Rosemary J., and Llera, Alberto

Published
2023
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9. The future of child and adolescent clinical psychopharmacology: A systematic review of phase 2, 3, or 4 randomized controlled trials of pharmacologic agents without regulatory approval or for unapproved indications

Author

Cortese, Samuele, McGinn, Katherine, Højlund, Mikkel, Apter, Alan, Arango, Celso, Baeza, Immaculada, Banaschewski, Tobias, Buitelaar, Jan, Castro-Fornieles, Josefina, Coghill, David, Cohen, David, Grünblatt, Edna, Hoekstra, Pieter J., James, Anthony, Jeppesen, Pia, Nagy, Péter, Pagsberg, Anne Katrine, Parellada, Mara, Persico, Antonio M., Purper-Ouakil, Diane, Roessner, Veit, Santosh, Paramala, Simonoff, Emily, Stevanovic, Dejan, Stringaris, Argyris, Vitiello, Benedetto, Walitza, Susanne, Weizman, Abraham, Wohlfarth, Tamar, Wong, Ian C.K., Zalsman, Gil, Zuddas, Alessandro, Moreno, Carmen, Solmi, Marco, and Correll, Christoph U.

Published
2023
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10. Autism Spectrum Disorder

Author

Bertelli, Marco O., Azeem, Muhammad Waqar, Underwood, Lisa, Scattoni, Maria Luisa, Persico, Antonio M., Ricciardello, Arianna, Sappok, Tanja, Bergmann, Thomas, Keller, Roberto, Bianco, Annamaria, Corti, Serafino, Miselli, Giovanni, Lassi, Stefano, Croce, Luigi, Bradley, Elspeth, Munir, Kerim, Bertelli, Marco O., editor, Deb, Shoumitro (Shoumi), editor, Munir, Kerim, editor, Hassiotis, Angela, editor, and Salvador-Carulla, Luis, editor

Published
2022
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11. Resting state EEG power spectrum and functional connectivity in autism: a cross-sectional analysis

Author

Garcés, Pilar, Baumeister, Sarah, Mason, Luke, Chatham, Christopher H., Holiga, Stefan, Dukart, Juergen, Jones, Emily J. H., Banaschewski, Tobias, Baron-Cohen, Simon, Bölte, Sven, Buitelaar, Jan K., Durston, Sarah, Oranje, Bob, Persico, Antonio M., Beckmann, Christian F., Bougeron, Thomas, Dell’Acqua, Flavio, Ecker, Christine, Moessnang, Carolin, Charman, Tony, Tillmann, Julian, Murphy, Declan G. M., Johnson, Mark, Loth, Eva, Brandeis, Daniel, and Hipp, Joerg F.

Published
2022
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12. Clinical, developmental and serotonemia phenotyping of a sample of 70 Italian patients with Phelan-McDermid Syndrome.

Author

Asta, Lisa, Ricciardello, Arianna, Cucinotta, Francesca, Turriziani, Laura, Boncoddo, Maria, Bellomo, Fabiana, Angelini, Jessica, Gnazzo, Martina, Scandolo, Giulia, Pisanò, Giulia, Pelagatti, Francesco, Chehbani, Fethia, Camia, Michela, and Persico, Antonio M.

Subjects
AUTISM spectrum disorders, GENE silencing, PLATELET-rich plasma, MOVEMENT disorders, MOTOR ability
Abstract

Background: Phelan-McDermid syndrome (PMS) is caused by monoallelic loss or inactivation at the SHANK3 gene, located in human chr 22q13.33, and is often associated with Autism Spectrum Disorder (ASD). Objectives: To assess the clinical and developmental phenotype in a novel sample of PMS patients, including for the first time auxometric trajectories and serotonin blood levels. Methods: 70 Italian PMS patients were clinically characterized by parental report, direct medical observation, and a thorough medical and psychodiagnostic protocol. Serotonin levels were measured in platelet-rich plasma by HPLC. Results: Our sample includes 59 (84.3%) cases with chr. 22q13 terminal deletion, 5 (7.1%) disruptive SHANK3 mutations, and 6 (8.6%) ring chromosome 22. Intellectual disability was present in 69 (98.6%) cases, motor coordination disorder in 65 (92.9%), ASD in 20 (28.6%), and lifetime bipolar disorder in 12 (17.1%). Prenatal and postnatal complications were frequent (22.9%-48.6%). Expressive and receptive language were absent in 49 (70.0%) and 19 (27.1%) cases, respectively. Decreased pain sensitivity was reported in 56 (80.0%), hyperactivity in 49 (80.3%), abnormal sleep in 45 (64.3%), congenital dysmorphisms in 35 (58.3%), chronic stool abnormalities and especially constipation in 29 (41.4%). Parents reported noticing behavioral abnormalities during early childhood immediately after an infective episode in 34 (48.6%) patients. Brain MRI anomalies were observed in 53 (79.1%), EEG abnormalities in 16 (23.5%), kidney and upper urinary tract malformations in 18 (28.1%). Two novel phenotypes emerged: (a) a subgroup of 12/44 (27.3%) PMS patients displays smaller head size at enrollment (mean age 11.8 yrs) compared to their first year of neonatal life, documenting a deceleration of head growth (p < 0.001); (b) serotonin blood levels are significantly lower in 21 PMS patients compared to their 21 unaffected siblings (P < 0.05), and to 432 idiopathic ASD cases (p < 0.001). Conclusions: We replicate and extend the description of many phenotypic characteristics present in PMS, and report two novel features: (1) growth trajectories are variable and head growth appears to slow down during childhood in some PMS patients; (2) serotonin blood levels are decreased in PMS, and not increased as frequently occurs in ASD. Further investigations of these novel features are under way. [ABSTRACT FROM AUTHOR]

Published
2024
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13. In-depth characterization of neuroradiological findings in a large sample of individuals with autism spectrum disorder and controls

Author

Ambrosino, Sara, Elbendary, Hasnaa, Lequin, Maarten, Rijkelijkhuizen, Dominique, Banaschewski, Tobias, Baron-Cohen, Simon, Bast, Nico, Baumeister, Sarah, Buitelaar, Jan, Charman, Tony, Crawley, Daisy, Dell'Acqua, Flavio, Hayward, Hannah, Holt, Rosemary, Moessnang, Carolin, Persico, Antonio M., Sacco, Roberto, San José Cáceres, Antonia, Tillmann, Julian, Loth, Eva, Ecker, Christine, Oranje, Bob, Murphy, Declan, and Durston, Sarah

Published
2022
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14. Psychopharmacology in children and adolescents:unmet needs and opportunities

Author

Cortese, Samuele, Purper-Ouakil, Diane, Apter, Alan, Arango, Celso, Baeza, Inmaculada, Banaschewski, Tobias, Buitelaar, Jan, Castro-Fornieles, Josefina, Coghill, David, Cohen, David, Correll, Christoph U., Grünblatt, Edna, Hoekstra, Pieter J., James, Anthony, Jeppesen, Pia, Nagy, Péter, Pagsberg, Anne Katrine, Parellada, Mara, Persico, Antonio M., Roessner, Veit, Santosh, Paramala, Simonoff, Emily, Stevanovic, Dejan, Stringaris, Argyris, Vitiello, Benedetto, Walitza, Susanne, Weizman, Abraham, Wong, Ian C.K., Zalsman, Gil, Zuddas, Alessandro, Carucci, Sara, Butlen-Ducuing, Florence, Tome, Maria, Bea, Myriam, Getin, Christine, Hovén, Nina, Konradsson-Geuken, Asa, Lamirell, Daphne, Olisa, Nigel, Nafria Escalera, Begonya, Moreno, Carmen, Cortese, Samuele, Purper-Ouakil, Diane, Apter, Alan, Arango, Celso, Baeza, Inmaculada, Banaschewski, Tobias, Buitelaar, Jan, Castro-Fornieles, Josefina, Coghill, David, Cohen, David, Correll, Christoph U., Grünblatt, Edna, Hoekstra, Pieter J., James, Anthony, Jeppesen, Pia, Nagy, Péter, Pagsberg, Anne Katrine, Parellada, Mara, Persico, Antonio M., Roessner, Veit, Santosh, Paramala, Simonoff, Emily, Stevanovic, Dejan, Stringaris, Argyris, Vitiello, Benedetto, Walitza, Susanne, Weizman, Abraham, Wong, Ian C.K., Zalsman, Gil, Zuddas, Alessandro, Carucci, Sara, Butlen-Ducuing, Florence, Tome, Maria, Bea, Myriam, Getin, Christine, Hovén, Nina, Konradsson-Geuken, Asa, Lamirell, Daphne, Olisa, Nigel, Nafria Escalera, Begonya, and Moreno, Carmen

Abstract

Psychopharmacological treatment is an important component of the multimodal intervention approach to treating mental health conditions in children and adolescents. Currently, there are many unmet needs but also opportunities, alongside possible risks to consider, regarding the pharmacological treatment of mental health conditions in children and adolescents. In this Position Paper, we highlight and address these unmet needs and opportunities, including the perspectives of clinicians and researchers from the European College of Neuropsychopharmacology–Child and Adolescent Network, alongside those of experts by lived experience from national and international associations, via a survey involving 644 participants from 13 countries, and of regulators, through representation from the European Medicines Agency. We present and discuss the evidence base for medications currently used for mental disorders in children and adolescents, medications in the pipeline, opportunities in the development of novel medications, crucial priorities for the conduct of future clinical studies, challenges and opportunities in terms of the regulatory and legislative framework, and innovations in the way research is conducted, reported, and promoted.

Published
2024

15. Cognitive, behavioral and socio-communication skills as predictors of response to Early Start Denver Model: a prospective study in 32 young children with Autism Spectrum Disorder.

Author

Asta, Lisa, Di Bella, Tiziana, La Fauci Belponer, Francesca, Bruschetta, Marianna, Martines, Silvia, Basile, Enrica, Boncoddo, Maria, Bellomo, Fabiana, Cucinotta, Francesca, Ricciardello, Arianna, Turriziani, Laura, Colombi, Costanza, Banchelli, Federico, Costantini, Riccardo Cuoghi, D'Amico, Roberto, and Persico, Antonio M.

Subjects
CHILDREN with autism spectrum disorders, AUTISTIC children, LONGITUDINAL method, END of treatment, EXPRESSIVE language
Abstract

Introduction: The effectiveness of early interventions in young autistic children is well established, but there is great interindividual variability in treatment response. Predictors of response to naturalistic developmental behavioral interventions (NDBI), like the Early Start Denver Model (ESDM), are needed. Methods: We conducted an exploratory study to prospectively seek predictors of response in 32 young children treated with ESDM after receiving an ASD diagnosis. All children were less than 39 months old (mean age: 29.7 mo), and received individualized ESDM for nine months. Tests were administered at the beginning, after 4 months, and at the end of treatment. Results: Four children (12.5%) were "strong responders", 8 children (25.0%) were "moderate responders", and 20 children (62.5%) were "poor responders". A more favorable response to ESDM was significantly predicted by higher PEP-3 Expressive Language, Receptive Language, Cognitive Verbal/Preverbal, Visuo-Motor Imitation scores, higher GMDS-ER Personal/Social, and VABS-II Communication scores, by lower ADI-R C restricted/stereotypic behaviors, and by joint attention level. Discussion: Most predictors showed a linear association with increasing response to ESDM, but GMDS-ER Personal-Social and joint attention level predicted strong response, while PEP-3 receptive language equally predicted moderate or strong response. Although larger samples will be necessary to reach definitive conclusions, in conjunction with prior reports our findings begin providing information able to assist clinicians in choosing the most appropriate treatment program for young autistic children. [ABSTRACT FROM AUTHOR]

Published
2024
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16. Differences in Intrinsic Gray Matter Connectivity and Their Genomic Underpinnings in Autism Spectrum Disorder

Author

Leyhausen, Johanna, primary, Schäfer, Tim, additional, Gurr, Caroline, additional, Berg, Lisa M., additional, Seelemeyer, Hanna, additional, Pretzsch, Charlotte M., additional, Loth, Eva, additional, Oakley, Bethany, additional, Buitelaar, Jan K., additional, Beckmann, Christian F., additional, Floris, Dorothea L., additional, Charman, Tony, additional, Bourgeron, Thomas, additional, Banaschewski, Tobias, additional, Jones, Emily J.H., additional, Tillmann, Julian, additional, Chatham, Chris, additional, Murphy, Declan G., additional, Ecker, Christine, additional, Ahmad, Jumana, additional, Ambrosino, Sara, additional, Auyeung, Bonnie, additional, Baron-Cohen, Simon, additional, Baumeister, Sarah, additional, Bölte, Sven, additional, Bours, Carsten, additional, Brammer, Michael, additional, Brandeis, Daniel, additional, Brogna, Claudia, additional, de Bruijn, Yvette, additional, Chakrabarti, Bhismadev, additional, Cornelissen, Ineke, additional, Crawley, Daisy, additional, Dell’Acqua, Flavio, additional, Dumas, Guillaume, additional, Durston, Sarah, additional, Faulkner, Jessica, additional, Frouin, Vincent, additional, Garcés, Pilar, additional, Goyard, David, additional, Ham, Lindsay, additional, Hayward, Hannah, additional, Hipp, Joerg, additional, Holt, Rosemary, additional, Johnson, Mark H., additional, Kundu, Prantik, additional, Lai, Meng-Chuan, additional, D’ardhuy, Xavier Liogier, additional, Lombardo, Michael V., additional, Lythgoe, David J., additional, Mandl, René, additional, Marquand, Andre, additional, Mason, Luke, additional, Mennes, Maarten, additional, Meyer-Lindenberg, Andreas, additional, Moessnang, Carolin, additional, Bast, Nico, additional, Murphy, Declan G.M., additional, O’Dwyer, Laurence, additional, Oldehinkel, Marianne, additional, Oranje, Bob, additional, Pandina, Gahan, additional, Persico, Antonio M., additional, Ruggeri, Barbara, additional, Ruigrok, Amber, additional, Sabet, Jessica, additional, Sacco, Roberto, additional, San José Cáceres, Antonia, additional, Simonoff, Emily, additional, Spooren, Will, additional, Toro, Roberto, additional, Tost, Heike, additional, Waldman, Jack, additional, Williams, Steve C.R., additional, Wooldridge, Caroline, additional, and Zwiers, Marcel P., additional

Published
2024
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17. Psychopharmacology in children and adolescents: unmet needs and opportunities

Author

Cortese, Samuele, primary, Purper-Ouakil, Diane, additional, Apter, Alan, additional, Arango, Celso, additional, Baeza, Inmaculada, additional, Banaschewski, Tobias, additional, Buitelaar, Jan, additional, Castro-Fornieles, Josefina, additional, Coghill, David, additional, Cohen, David, additional, Correll, Christoph U, additional, Grünblatt, Edna, additional, Hoekstra, Pieter J, additional, James, Anthony, additional, Jeppesen, Pia, additional, Nagy, Péter, additional, Pagsberg, Anne Katrine, additional, Parellada, Mara, additional, Persico, Antonio M, additional, Roessner, Veit, additional, Santosh, Paramala, additional, Simonoff, Emily, additional, Stevanovic, Dejan, additional, Stringaris, Argyris, additional, Vitiello, Benedetto, additional, Walitza, Susanne, additional, Weizman, Abraham, additional, Wong, Ian C K, additional, Zalsman, Gil, additional, Zuddas, Alessandro, additional, Carucci, Sara, additional, Butlen-Ducuing, Florence, additional, Tome, Maria, additional, Bea, Myriam, additional, Getin, Christine, additional, Hovén, Nina, additional, Konradsson-Geuken, Asa, additional, Lamirell, Daphne, additional, Olisa, Nigel, additional, Nafria Escalera, Begonya, additional, and Moreno, Carmen, additional

Published
2023
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21. Diagnostic yield and clinical impact of chromosomal microarray analysis in autism spectrum disorder

Author

Cucinotta, Francesca, primary, Lintas, Carla, additional, Tomaiuolo, Pasquale, additional, Baccarin, Marco, additional, Picinelli, Chiara, additional, Castronovo, Paola, additional, Sacco, Roberto, additional, Piras, Ignazio Stefano, additional, Turriziani, Laura, additional, Ricciardello, Arianna, additional, Scattoni, Maria Luisa, additional, and Persico, Antonio M., additional

Published
2023
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22. The future of child and adolescent clinical psychopharmacology:A systematic review of phase 2, 3, or 4 randomized controlled trials of pharmacologic agents without regulatory approval or for unapproved indications

Author

Cortese, Samuele, McGinn, Katherine, Højlund, Mikkel, Apter, Alan, Arango, Celso, Baeza, Immaculada, Banaschewski, Tobias, Buitelaar, Jan, Castro-Fornieles, Josefina, Coghill, David, Cohen, David, Grünblatt, Edna, Hoekstra, Pieter J., James, Anthony, Jeppesen, Pia, Nagy, Péter, Pagsberg, Anne Katrine, Parellada, Mara, Persico, Antonio M., Purper-Ouakil, Diane, Roessner, Veit, Santosh, Paramala, Simonoff, Emily, Stevanovic, Dejan, Stringaris, Argyris, Vitiello, Benedetto, Walitza, Susanne, Weizman, Abraham, Wohlfarth, Tamar, Wong, Ian C. K., Zalsman, Gil, Zuddas, Alessandro, Moreno, Carmen, Solmi, Marco, Correll, Christoph U., Cortese, Samuele, McGinn, Katherine, Højlund, Mikkel, Apter, Alan, Arango, Celso, Baeza, Immaculada, Banaschewski, Tobias, Buitelaar, Jan, Castro-Fornieles, Josefina, Coghill, David, Cohen, David, Grünblatt, Edna, Hoekstra, Pieter J., James, Anthony, Jeppesen, Pia, Nagy, Péter, Pagsberg, Anne Katrine, Parellada, Mara, Persico, Antonio M., Purper-Ouakil, Diane, Roessner, Veit, Santosh, Paramala, Simonoff, Emily, Stevanovic, Dejan, Stringaris, Argyris, Vitiello, Benedetto, Walitza, Susanne, Weizman, Abraham, Wohlfarth, Tamar, Wong, Ian C. K., Zalsman, Gil, Zuddas, Alessandro, Moreno, Carmen, Solmi, Marco, and Correll, Christoph U.

Abstract

We aimed to identify promising novel medications for child and adolescent mental health problems. We systematically searched https://clinicaltrials.gov/ and https://www.clinicaltrialsregister.eu/ (from 01/01/2010–08/23/2022) for phase 2 or 3 randomized controlled trials (RCTs) of medications without regulatory approval in the US, Europe or Asia, including also RCTs of dietary interventions/probiotics. Additionally, we searched phase 4 RCTs of agents targeting unlicensed indications for children/adolescents with mental health disorders. We retrieved 234 ongoing or completed RCTs, including 26 (11%) with positive findings on ≥ 1 primary outcome, 43 (18%) with negative/unavailable results on every primary outcome, and 165 (70%) without publicly available statistical results. The only two compounds with evidence of significant effects that were replicated in ≥ 1 additional RCT without any negative RCTs were dasotraline for attention-deficit/hyperactivity disorder, and carbetocin for hyperphagia in Prader-Willi syndrome. Among other strategies, targeting specific symptom dimensions in samples stratified based on clinical characteristics or established biomarkers may increase chances of success in future development programmes.

Published
2023

23. A human leukocyte antigen imputation study uncovers possible genetic interplay between gut inflammatory processes and autism spectrum disorders

Author

Onderwijscentrum, Brain, Ontwikkelingsstoornissen Ond., Lombardi, Laura, Le Clerc, Sigrid, Wu, Ching-Lien, Bouassida, Jihène, Boukouaci, Wahid, Sugusabesan, Sobika, Richard, Jean-Romain, Lajnef, Mohamed, Tison, Maxime, Le Corvoisier, Philippe, Barau, Caroline, Banaschewski, Tobias, Holt, Rosemary, Durston, Sarah, Persico, Antonio M, Oakley, Bethany, Loth, Eva, Buitelaar, Jan, Murphy, Declan, Leboyer, Marion, Zagury, Jean-François, Tamouza, Ryad, Onderwijscentrum, Brain, Ontwikkelingsstoornissen Ond., Lombardi, Laura, Le Clerc, Sigrid, Wu, Ching-Lien, Bouassida, Jihène, Boukouaci, Wahid, Sugusabesan, Sobika, Richard, Jean-Romain, Lajnef, Mohamed, Tison, Maxime, Le Corvoisier, Philippe, Barau, Caroline, Banaschewski, Tobias, Holt, Rosemary, Durston, Sarah, Persico, Antonio M, Oakley, Bethany, Loth, Eva, Buitelaar, Jan, Murphy, Declan, Leboyer, Marion, Zagury, Jean-François, and Tamouza, Ryad

Published
2023

24. Cross-sectional and longitudinal neuroanatomical profiles of distinct clinical (adaptive) outcomes in autism

Author

Pretzsch, Charlotte M; https://orcid.org/0000-0002-2761-6628, Floris, Dorothea L; https://orcid.org/0000-0001-5838-6821, Schäfer, Tim; https://orcid.org/0000-0002-3683-8070, Bletsch, Anke; https://orcid.org/0000-0002-6857-4065, Gurr, Caroline, Lombardo, Michael V, Chatham, Chris H; https://orcid.org/0000-0003-4427-8285, Tillmann, Julian, Charman, Tony; https://orcid.org/0000-0003-1993-6549, Arenella, Martina, Jones, Emily, Ambrosino, Sara, Bourgeron, Thomas; https://orcid.org/0000-0001-8164-9220, Dumas, Guillaume; https://orcid.org/0000-0002-2253-1844, Cliquet, Freddy; https://orcid.org/0000-0002-9989-0685, Leblond, Claire S, Loth, Eva; https://orcid.org/0000-0001-9458-9167, Oakley, Bethany, Buitelaar, Jan K; https://orcid.org/0000-0001-8288-7757, Baron-Cohen, Simon; https://orcid.org/0000-0001-9217-2544, Beckmann, Christian F, Persico, Antonio M, Banaschewski, Tobias; https://orcid.org/0000-0003-4595-1144, Durston, Sarah, Freitag, Christine M; https://orcid.org/0000-0001-9676-4782, Murphy, Declan G M; https://orcid.org/0000-0002-6664-7451, Ecker, Christine, Pretzsch, Charlotte M; https://orcid.org/0000-0002-2761-6628, Floris, Dorothea L; https://orcid.org/0000-0001-5838-6821, Schäfer, Tim; https://orcid.org/0000-0002-3683-8070, Bletsch, Anke; https://orcid.org/0000-0002-6857-4065, Gurr, Caroline, Lombardo, Michael V, Chatham, Chris H; https://orcid.org/0000-0003-4427-8285, Tillmann, Julian, Charman, Tony; https://orcid.org/0000-0003-1993-6549, Arenella, Martina, Jones, Emily, Ambrosino, Sara, Bourgeron, Thomas; https://orcid.org/0000-0001-8164-9220, Dumas, Guillaume; https://orcid.org/0000-0002-2253-1844, Cliquet, Freddy; https://orcid.org/0000-0002-9989-0685, Leblond, Claire S, Loth, Eva; https://orcid.org/0000-0001-9458-9167, Oakley, Bethany, Buitelaar, Jan K; https://orcid.org/0000-0001-8288-7757, Baron-Cohen, Simon; https://orcid.org/0000-0001-9217-2544, Beckmann, Christian F, Persico, Antonio M, Banaschewski, Tobias; https://orcid.org/0000-0003-4595-1144, Durston, Sarah, Freitag, Christine M; https://orcid.org/0000-0001-9676-4782, Murphy, Declan G M; https://orcid.org/0000-0002-6664-7451, and Ecker, Christine

Abstract

Individuals with autism spectrum disorder (henceforth referred to as autism) display significant variation in clinical outcome. For instance, across age, some individuals’ adaptive skills naturally improve or remain stable, while others’ decrease. To pave the way for ‘precision-medicine’ approaches, it is crucial to identify the cross-sectional and, given the developmental nature of autism, longitudinal neurobiological (including neuroanatomical and linked genetic) correlates of this variation. We conducted a longitudinal follow-up study of 333 individuals (161 autistic and 172 neurotypical individuals, aged 6–30 years), with two assessment time points separated by ~12–24 months. We collected behavioural (Vineland Adaptive Behaviour Scale-II, VABS-II) and neuroanatomical (structural magnetic resonance imaging) data. Autistic participants were grouped into clinically meaningful “Increasers”, “No-changers”, and “Decreasers” in adaptive behaviour (based on VABS-II scores). We compared each clinical subgroup’s neuroanatomy (surface area and cortical thickness at T1, ∆T (intra-individual change) and T2) to that of the neurotypicals. Next, we explored the neuroanatomical differences’ potential genomic associates using the Allen Human Brain Atlas. Clinical subgroups had distinct neuroanatomical profiles in surface area and cortical thickness at baseline, neuroanatomical development, and follow-up. These profiles were enriched for genes previously associated with autism and for genes previously linked to neurobiological pathways implicated in autism (e.g. excitation-inhibition systems). Our findings suggest that distinct clinical outcomes (i.e. intra-individual change in clinical profiles) linked to autism core symptoms are associated with atypical cross-sectional and longitudinal, i.e. developmental, neurobiological profiles. If validated, our findings may advance the development of interventions, e.g. targeting mechanisms linked to relatively poorer outcomes.

Published
2023

25. The Future of Child and Adolescent Clinical Psychopharmacology: A Systematic Review of Phase 2, 3, or 4 Randomized Controlled Trials of Pharmacologic Agents Without Regulatory Approval or for Unapproved Indications

Author

Cortese, Samuele; https://orcid.org/0000-0001-5877-8075, McGinn, Katherine, Højlund, Mikkel, Apter, Alan, Arango, Celso; https://orcid.org/0000-0003-3382-4754, Baeza, Immaculada, Banaschewski, Tobias, Buitelaar, Jan; https://orcid.org/0000-0001-8288-7757, Castro-Fornieles, Josefina; https://orcid.org/0000-0003-0632-2687, Coghill, David, Cohen, David, Grünblatt, Edna; https://orcid.org/0000-0001-8505-7265, Hoekstra, Pieter J; https://orcid.org/0000-0003-1018-9954, James, Anthony, Jeppesen, Pia, Nagy, Péter, Pagsberg, Anne Katrine, Parellada, Mara, Persico, Antonio M, Purper-Ouakil, Diane; https://orcid.org/0000-0003-0454-1579, Roessner, Veit; https://orcid.org/0000-0002-1873-7081, Santosh, Paramala, Simonoff, Emily; https://orcid.org/0000-0002-5450-0823, Stevanovic, Dejan, Stringaris, Argyris, Vitiello, Benedetto, Walitza, Susanne; https://orcid.org/0000-0002-8161-8683, Weizman, Abraham, Wohlfarth, Tamar, Wong, Ian C K, Zalsman, Gil, Zuddas, Alessandro, Moreno, Carmen, Solmi, Marco, Correll, Christoph U; https://orcid.org/0000-0002-7254-5646, Cortese, Samuele; https://orcid.org/0000-0001-5877-8075, McGinn, Katherine, Højlund, Mikkel, Apter, Alan, Arango, Celso; https://orcid.org/0000-0003-3382-4754, Baeza, Immaculada, Banaschewski, Tobias, Buitelaar, Jan; https://orcid.org/0000-0001-8288-7757, Castro-Fornieles, Josefina; https://orcid.org/0000-0003-0632-2687, Coghill, David, Cohen, David, Grünblatt, Edna; https://orcid.org/0000-0001-8505-7265, Hoekstra, Pieter J; https://orcid.org/0000-0003-1018-9954, James, Anthony, Jeppesen, Pia, Nagy, Péter, Pagsberg, Anne Katrine, Parellada, Mara, Persico, Antonio M, Purper-Ouakil, Diane; https://orcid.org/0000-0003-0454-1579, Roessner, Veit; https://orcid.org/0000-0002-1873-7081, Santosh, Paramala, Simonoff, Emily; https://orcid.org/0000-0002-5450-0823, Stevanovic, Dejan, Stringaris, Argyris, Vitiello, Benedetto, Walitza, Susanne; https://orcid.org/0000-0002-8161-8683, Weizman, Abraham, Wohlfarth, Tamar, Wong, Ian C K, Zalsman, Gil, Zuddas, Alessandro, Moreno, Carmen, Solmi, Marco, and Correll, Christoph U; https://orcid.org/0000-0002-7254-5646

Abstract

The pace of development and implementation of novel medications in child and adolescent psychiatry has remained slow. We systematically searched https://clinicaltrials.gov/ and https://www.clinicaltrialsregister.eu/ (from 01/01/2010 to 08/23/2022) for phase 2 or 3 randomized controlled trials (RCTs) of medications without regulatory approval in the US, Europe or Asia. We also included RCTs of dietary interventions/probiotics. Additionally, we searched phase 4 RCTs of agents targeting unlicensed indications for children/adolescents with mental health disorders. We retrieved 234 ongoing or completed RCTs, including 26 (11%) with positive findings on ≥1 primary outcome, 43 (19%) with negative/unavailable results on every primary outcome, and 165 (70%) without publicly available statistical results. The only two compounds with evidence of significant effects that were replicated in ≥1 additional RCT without any negative RCTs were dasotraline for attention-deficit/hyperactivity disorder, and carbetocin for hyperphagia in Prader-Willi syndrome. Among other strategies, targeting specific symptom dimensions in samples stratified based on clinical characteristics or established biomarkers may increase chances of success in future development programmes.

Published
2023

26. Processing of social and monetary rewards in autism spectrum disorders

Author

Baumeister, Sarah, Moessnang, Carolin, Bast, Nico, Hohmann, Sarah, Aggensteiner, Pascal, Kaiser, Anna, Tillmann, Julian, Goyard, David, Charman, Tony, Ambrosino, Sara, Baron-Cohen, Simon, Beckmann, Christian, Bölte, Sven, Bourgeron, Thomas, Rausch, Annika, Crawley, Daisy, Dell'Acqua, Flavio, Dumas, Guillaume, Durston, Sarah, Ecker, Christine, Floris, Dorothea L, Frouin, Vincent, Hayward, Hannah, Holt, Rosemary, Johnson, Mark H, Jones, Emily JH, Lai, Meng-Chuan, Lombardo, Michael V, Mason, Luke, Oakley, Bethany, Oldehinkel, Marianne, Persico, Antonio M, San José Cáceres, Antonia, Wolfers, Thomas, Loth, Eva, Murphy, Declan GM, Buitelaar, Jan K, Tost, Heike, Meyer-Lindenberg, Andreas, Banaschewski, Tobias, Brandeis, Daniel, EU-AIMS LEAP Group, Baumeister, Sarah [0000-0001-9005-0084], Aggensteiner, Pascal [0000-0002-1048-9044], Charman, Tony [0000-0003-1993-6549], Banaschewski, Tobias [0000-0003-4595-1144], and Apollo - University of Cambridge Repository

Subjects
Brain Mapping, Reward, Attention Deficit Disorder with Hyperactivity, Autism Spectrum Disorder, fMRI, multisite, Humans, Brain, autism traits, Autistic Disorder, reward processing, ADHD symptoms, Magnetic Resonance Imaging
Abstract

BACKGROUND: Reward processing has been proposed to underpin the atypical social feature of autism spectrum disorder (ASD). However, previous neuroimaging studies have yielded inconsistent results regarding the specificity of atypicalities for social reward processing in ASD. AIMS: Utilising a large sample, we aimed to assess reward processing in response to reward type (social, monetary) and reward phase (anticipation, delivery) in ASD. METHOD: Functional magnetic resonance imaging during social and monetary reward anticipation and delivery was performed in 212 individuals with ASD (7.6-30.6 years of age) and 181 typically developing participants (7.6-30.8 years of age). RESULTS: Across social and monetary reward anticipation, whole-brain analyses showed hypoactivation of the right ventral striatum in participants with ASD compared with typically developing participants. Further, region of interest analysis across both reward types yielded ASD-related hypoactivation in both the left and right ventral striatum. Across delivery of social and monetary reward, hyperactivation of the ventral striatum in individuals with ASD did not survive correction for multiple comparisons. Dimensional analyses of autism and attention-deficit hyperactivity disorder (ADHD) scores were not significant. In categorical analyses, post hoc comparisons showed that ASD effects were most pronounced in participants with ASD without co-occurring ADHD. CONCLUSIONS: Our results do not support current theories linking atypical social interaction in ASD to specific alterations in social reward processing. Instead, they point towards a generalised hypoactivity of ventral striatum in ASD during anticipation of both social and monetary rewards. We suggest this indicates attenuated reward seeking in ASD independent of social content and that elevated ADHD symptoms may attenuate altered reward seeking in ASD.

Published
2023
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27. Toe Walking in Children and Adolescents with Autism Spectrum Disorder Relationship with Sensory and Motor Functions, Language, Cognition, and Autism Severity

Author

Camia, Michela, primary, Sacco, Roberto, additional, Boncoddo, Maria, additional, Bellomo, Fabiana, additional, Cucinotta, Francesca, additional, Ricciardello, Arianna, additional, Turriziani, Laura, additional, Tomaiuolo, Pasquale, additional, Costantini, Riccardo Cuoghi, additional, D&apos;Amico, Roberto, additional, and Persico, Antonio M., additional

Published
2023
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28. Coenzyme Q10, Vitamin E and Polyvitamin B: an exploratory double-blind randomized cross-over study in Phelan-McDermid Syndrome

Author

Persico, Antonio M., primary, Ricciardello, Arianna, additional, Cucinotta, Francesca, additional, Turriziani, Laura, additional, Calabrese, Giorgia, additional, Tomaiuolo, Pasquale, additional, Di Bella, Tiziana, additional, Bellomo, Fabiana, additional, Boncoddo, Maria, additional, Turturo, Giada, additional, Mirabelli, Silvestro, additional, Asta, Lisa, additional, Banchelli, Federico, additional, Costantini, Riccardo Cuoghi, additional, and D'Amico, Roberto, additional

Published
2023
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30. Autism Is Associated With Interindividual Variations of Gray and White Matter Morphology

Author

Mei, Ting, primary, Forde, Natalie J., additional, Floris, Dorothea L., additional, Dell’Acqua, Flavio, additional, Stones, Richard, additional, Ilioska, Iva, additional, Durston, Sarah, additional, Moessnang, Carolin, additional, Banaschewski, Tobias, additional, Holt, Rosemary J., additional, Baron-Cohen, Simon, additional, Rausch, Annika, additional, Loth, Eva, additional, Oakley, Bethany, additional, Charman, Tony, additional, Ecker, Christine, additional, Murphy, Declan G.M., additional, Beckmann, Christian F., additional, Llera, Alberto, additional, Buitelaar, Jan K., additional, Ahmad, Jumana, additional, Ambrosino, Sara, additional, Auyeung, Bonnie, additional, Baumeister, Sarah, additional, Bölte, Sven, additional, Bourgeron, Thomas, additional, Bours, Carsten, additional, Brammer, Michael, additional, Brandeis, Daniel, additional, Brogna, Claudia, additional, de Bruijn, Yvette, additional, Chakrabarti, Bhismadev, additional, Cornelissen, Ineke, additional, Crawley, Daisy, additional, Dumas, Guillaume, additional, Faulkner, Jessica, additional, Frouin, Vincent, additional, Garcés, Pilar, additional, Goyard, David, additional, Ham, Lindsay, additional, Hayward, Hannah, additional, Hipp, Joerg, additional, Holt, Rosemary, additional, Johnson, Mark H., additional, Jones, Emily J.H., additional, Kundu, Prantik, additional, Lai, Meng-Chuan, additional, Liogier d’Ardhuy, Xavier, additional, Lombardo, Michael V., additional, Lythgoe, David J., additional, Mandl, René, additional, Marquand, Andre, additional, Mason, Luke, additional, Mennes, Maarten, additional, Meyer-Lindenberg, Andreas, additional, Mueller, Nico, additional, O’Dwyer, Laurence, additional, Oldehinkel, Marianne, additional, Oranje, Bob, additional, Pandina, Gahan, additional, Persico, Antonio M., additional, Ruggeri, Barbara, additional, Ruigrok, Amber, additional, Sabet, Jessica, additional, Sacco, Roberto, additional, San José Cáceres, Antonia, additional, Simonoff, Emily, additional, Spooren, Will, additional, Tillmann, Julian, additional, Toro, Roberto, additional, Tost, Heike, additional, Waldman, Jack, additional, Williams, Steve C.R., additional, Wooldridge, Caroline, additional, Mei, Ting, additional, and Zwiers, Marcel P., additional

Published
2022
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36. Developing gene-based personalised interventions in autism spectrum disorders

Author

Freitag, Christine M., Persico, Antonio M., Vorstman, Jacob A. S., Freitag, Christine M., Persico, Antonio M., and Vorstman, Jacob A. S.

Abstract

Autism spectrum disorder (ASD) is a neurodevelopmental disorder with onset in early childhood. While highly heterogeneous, the core manifestations always include persistent difficulties in social interaction and communication, as well as a pattern of restricted interests, repetitive behaviours, and abnormal sensory processing [1]. In addition, psychiatric comorbidity is high [2], and there are genetic risk overlaps with some other mental and neurodevelopmental disorders. In the vast majority of cases, the condition persists into adulthood [3], albeit with various behavioural features and variable mental and somatic comorbidity over a given lifespan. ASD is associated with high societal, educational, and health care costs, and, in many cases, a dramatic impact on the quality of life of patients and their families. ASDs are highly heritable [4], and a multitude of genetic studies have been published. In addition, more recent reviews also emphasize the role of genetic and environmental factors in the pathophysiology of ASD [5,6], which are mediated by lasting epigenetic changes. The genetic architecture of ASD comprises common and rare variations as well as cytogenetic disturbances, such as copy number variations, translocations, inversions, and numerical chromosomal aberrations [7]. Based on the genes affected and the respective functional effects, the idea of personalised medicine is to eventually use that information for the development of targeted treatments or towards the ability to predict the response to a specific intervention, mainly pharmacological but also psychosocial, given the individual’s genetic and environmental risk constellation. The current Special Issue aims to highlight some core aspects regarding basic and applied science approaches in advancing this field of science. Currently, psychopharmacological treatment in ASD can improve many comorbid neurodevelopmental disorders, such as attention-deficit/hyperactivity disorder or aggressive behaviour, a

Published
2022

37. Interindividual Differences in Cortical Thickness and Their Genomic Underpinnings in Autism Spectrum Disorder

Author

Ontwikkelingsstoornissen Ond., Brain, Ecker, Christine, Pretzsch, Charlotte M, Bletsch, Anke, Mann, Caroline, Schaefer, Tim, Ambrosino, Sara, Tillmann, Julian, Yousaf, Afsheen, Chiocchetti, Andreas, Lombardo, Michael V, Warrier, Varun, Bast, Nico, Moessnang, Carolin, Baumeister, Sarah, Dell'Acqua, Flavio, Floris, Dorothea L, Zabihi, Mariam, Marquand, Andre, Cliquet, Freddy, Leblond, Claire, Moreau, Clara, Puts, Nick, Banaschewski, Tobias, Jones, Emily J H, Mason, Luke, Bölte, Sven, Meyer-Lindenberg, Andreas, Persico, Antonio M, Durston, Sarah, Baron-Cohen, Simon, Spooren, Will, Loth, Eva, Freitag, Christine M, Charman, Tony, Dumas, Guillaume, Bourgeron, Thomas, Beckmann, Christian F, Buitelaar, Jan K, Murphy, Declan G M, Ontwikkelingsstoornissen Ond., Brain, Ecker, Christine, Pretzsch, Charlotte M, Bletsch, Anke, Mann, Caroline, Schaefer, Tim, Ambrosino, Sara, Tillmann, Julian, Yousaf, Afsheen, Chiocchetti, Andreas, Lombardo, Michael V, Warrier, Varun, Bast, Nico, Moessnang, Carolin, Baumeister, Sarah, Dell'Acqua, Flavio, Floris, Dorothea L, Zabihi, Mariam, Marquand, Andre, Cliquet, Freddy, Leblond, Claire, Moreau, Clara, Puts, Nick, Banaschewski, Tobias, Jones, Emily J H, Mason, Luke, Bölte, Sven, Meyer-Lindenberg, Andreas, Persico, Antonio M, Durston, Sarah, Baron-Cohen, Simon, Spooren, Will, Loth, Eva, Freitag, Christine M, Charman, Tony, Dumas, Guillaume, Bourgeron, Thomas, Beckmann, Christian F, Buitelaar, Jan K, and Murphy, Declan G M

Published
2022

38. Resting state EEG power spectrum and functional connectivity in autism: a cross-sectional analysis

Author

Garcés, Pilar; https://orcid.org/0000-0003-4989-0123, Baumeister, Sarah, Mason, Luke, Chatham, Christopher H, Holiga, Stefan, Dukart, Juergen, Jones, Emily J H, Banaschewski, Tobias; https://orcid.org/0000-0003-4595-1144, Baron-Cohen, Simon, Bölte, Sven, Buitelaar, Jan K, Durston, Sarah, Oranje, Bob, Persico, Antonio M, Beckmann, Christian F, Bougeron, Thomas, Dell'Acqua, Flavio, Ecker, Christine, Moessnang, Carolin; https://orcid.org/0000-0003-4357-2706, Charman, Tony, Tillmann, Julian, Murphy, Declan G M, Johnson, Mark, Loth, Eva, Brandeis, Daniel, Hipp, Joerg F, EU-AIMS LEAP group authorship, Garcés, Pilar; https://orcid.org/0000-0003-4989-0123, Baumeister, Sarah, Mason, Luke, Chatham, Christopher H, Holiga, Stefan, Dukart, Juergen, Jones, Emily J H, Banaschewski, Tobias; https://orcid.org/0000-0003-4595-1144, Baron-Cohen, Simon, Bölte, Sven, Buitelaar, Jan K, Durston, Sarah, Oranje, Bob, Persico, Antonio M, Beckmann, Christian F, Bougeron, Thomas, Dell'Acqua, Flavio, Ecker, Christine, Moessnang, Carolin; https://orcid.org/0000-0003-4357-2706, Charman, Tony, Tillmann, Julian, Murphy, Declan G M, Johnson, Mark, Loth, Eva, Brandeis, Daniel, Hipp, Joerg F, and EU-AIMS LEAP group authorship

Abstract

BACKGROUND: Understanding the development of the neuronal circuitry underlying autism spectrum disorder (ASD) is critical to shed light into its etiology and for the development of treatment options. Resting state EEG provides a window into spontaneous local and long-range neuronal synchronization and has been investigated in many ASD studies, but results are inconsistent. Unbiased investigation in large and comprehensive samples focusing on replicability is needed. METHODS: We quantified resting state EEG alpha peak metrics, power spectrum (PS, 2-32 Hz) and functional connectivity (FC) in 411 children, adolescents and adults (n = 212 ASD, n = 199 neurotypicals [NT], all with IQ > 75). We performed analyses in source-space using individual head models derived from the participants' MRIs. We tested for differences in mean and variance between the ASD and NT groups for both PS and FC using linear mixed effects models accounting for age, sex, IQ and site effects. Then, we used machine learning to assess whether a multivariate combination of EEG features could better separate ASD and NT participants. All analyses were embedded within a train-validation approach (70%-30% split). RESULTS: In the training dataset, we found an interaction between age and group for the reactivity to eye opening (p = .042 uncorrected), and a significant but weak multivariate ASD vs. NT classification performance for PS and FC (sensitivity 0.52-0.62, specificity 0.59-0.73). None of these findings replicated significantly in the validation dataset, although the effect size in the validation dataset overlapped with the prediction interval from the training dataset. LIMITATIONS: The statistical power to detect weak effects-of the magnitude of those found in the training dataset-in the validation dataset is small, and we cannot fully conclude on the reproducibility of the training dataset's effects. CONCLUSIONS: This suggests that PS and FC values in ASD and NT have a strong overlap, and that diff

Published
2022

40. Interindividual Differences in Cortical Thickness and Their Genomic Underpinnings in Autism Spectrum Disorder

Author

Ecker, Christine, primary, Pretzsch, Charlotte M., additional, Bletsch, Anke, additional, Mann, Caroline, additional, Schaefer, Tim, additional, Ambrosino, Sara, additional, Tillmann, Julian, additional, Yousaf, Afsheen, additional, Chiocchetti, Andreas, additional, Lombardo, Michael V., additional, Warrier, Varun, additional, Bast, Nico, additional, Moessnang, Carolin, additional, Baumeister, Sarah, additional, Dell’Acqua, Flavio, additional, Floris, Dorothea L., additional, Zabihi, Mariam, additional, Marquand, Andre, additional, Cliquet, Freddy, additional, Leblond, Claire, additional, Moreau, Clara, additional, Puts, Nick, additional, Banaschewski, Tobias, additional, Jones, Emily J.H., additional, Mason, Luke, additional, Bölte, Sven, additional, Meyer-Lindenberg, Andreas, additional, Persico, Antonio M., additional, Durston, Sarah, additional, Baron-Cohen, Simon, additional, Spooren, Will, additional, Loth, Eva, additional, Freitag, Christine M., additional, Charman, Tony, additional, Dumas, Guillaume, additional, Bourgeron, Thomas, additional, Beckmann, Christian F., additional, Buitelaar, Jan K., additional, and Murphy, Declan G.M., additional

Published
2022
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42. Additional file 1 of Resting state EEG power spectrum and functional connectivity in autism: a cross-sectional analysis

Author

Garcés, Pilar, Baumeister, Sarah, Mason, Luke, Chatham, Christopher H., Holiga, Stefan, Dukart, Juergen, Jones, Emily J. H., Banaschewski, Tobias, Baron-Cohen, Simon, Bölte, Sven, Buitelaar, Jan K., Durston, Sarah, Oranje, Bob, Persico, Antonio M., Beckmann, Christian F., Bougeron, Thomas, Dell’Acqua, Flavio, Ecker, Christine, Moessnang, Carolin, Charman, Tony, Tillmann, Julian, Murphy, Declan G. M., Johnson, Mark, Loth, Eva, Brandeis, Daniel, and Hipp, Joerg F.

Abstract

Additional file 1. Supplementary Material. Supplementary tables and figures.

Published
2022
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43. Patterns of connectome variability in autism across five functional activation tasks:Findings from the LEAP project

Author

Looden, Tristan, Floris, Dorothea L., Llera, Alberto, Chauvin, Roselyne J., Charman, Tony, Banaschewski, Tobias, Murphy, Declan G. M., Marquand, Andre. F., Buitelaar, Jan K., Beckmann, Christian F., Ahmad, Jumana, Ambrosino, Sara, Auyeung, Bonnie, Baron-cohen, Simon, Baumeister, Sarah, Bölte, Sven, Bourgeron, Thomas, Bours, Carsten, Brammer, Michael, Brandeis, Daniel, Brogna, Claudia, De Bruijn, Yvette, Chakrabarti, Bhismadev, Cornelissen, Ineke, Crawley, Daisy, Acqua, Flavio Dell’, Dumas, Guillaume, Durston, Sarah, Ecker, Christine, Faulkner, Jessica, Frouin, Vincent, Garcés, Pilar, Goyard, David, Ham, Lindsay, Hayward, Hannah, Hipp, Joerg, Holt, Rosemary, Johnson, Mark H., Jones, Emily J. H., Kundu, Prantik, Lai, Meng-chuan, D’ardhuy, Xavier Liogier, Lombardo, Michael V., Loth, Eva, Lythgoe, David J., Mandl, René, Marquand, Andre, Mason, Luke, Mennes, Maarten, Meyer-lindenberg, Andreas, Moessnang, Carolin, Mueller, Nico, Oakley, Bethany, O’dwyer, Laurence, Oldehinkel, Marianne, Oranje, Bob, Pandina, Gahan, Persico, Antonio M., Rausch, Annika, Ruggeri, Barbara, Ruigrok, Amber, Sabet, Jessica, Sacco, Roberto, Cáceres, Antonia San José, Simonoff, Emily, Spooren, Will, Tillmann, Julian, Toro, Roberto, Tost, Heike, Waldman, Jack, Williams, Steve C. R., Wooldridge, Caroline, Ilioska, Iva, Mei, Ting, and Zwiers, Marcel P.

Subjects
Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], fMRI, functional connectivity, Stress-related disorders Donders Center for Medical Neuroscience [Radboudumc 13], 220 Statistical Imaging Neuroscience, autism, Psychiatry and Mental health, All institutes and research themes of the Radboud University Medical Center, Developmental Neuroscience, normative modeling, heterogeneity, Molecular Biology, Developmental Biology, canonical correlation analysis
Abstract

Background Autism spectrum disorder (autism) is a complex neurodevelopmental condition with pronounced behavioral, cognitive, and neural heterogeneities across individuals. Here, our goal was to characterize heterogeneity in autism by identifying patterns of neural diversity as reflected in BOLD fMRI in the way individuals with autism engage with a varied array of cognitive tasks. Methods All analyses were based on the EU-AIMS/AIMS-2-TRIALS multisite Longitudinal European Autism Project (LEAP) with participants with autism (n = 282) and typically developing (TD) controls (n = 221) between 6 and 30 years of age. We employed a novel task potency approach which combines the unique aspects of both resting state fMRI and task-fMRI to quantify task-induced variations in the functional connectome. Normative modelling was used to map atypicality of features on an individual basis with respect to their distribution in neurotypical control participants. We applied robust out-of-sample canonical correlation analysis (CCA) to relate connectome data to behavioral data. Results Deviation from the normative ranges of global functional connectivity was greater for individuals with autism compared to TD in each fMRI task paradigm (all tasks p p Conclusions Individuals with autism engage with tasks in a globally atypical way, but the particular spatial pattern of this atypicality is nevertheless similar across tasks. Atypicalities in the tasks originate mostly from prefrontal cortex and default mode network regions, but also speech and auditory networks. We show how sophisticated modeling methods such as task potency and normative modeling can be used toward unravelling complex heterogeneous conditions like autism.

Published
2022

44. Preference for biological motion is reduced in ASD: implications for clinical trials and the search for biomarkers

Author

Mason, L, Shic, F, Falck-Ytter, T, Chakrabarti, B, Charman, T, Loth, E, Tillmann, J, Banaschewski, T, Baron-Cohen, S, Bölte, S, Buitelaar, J, Durston, S, Oranje, B, Persico, A M, Beckmann, C, Bougeron, T, Dell'Acqua, F, Ecker, C, Moessnang, C, Murphy, D, Johnson, M H, Jones, E J H, LEAP Team, et al, Brandeis, Daniel, University of Zurich, and Mason, L

Subjects
1309 Developmental Biology, 2806 Developmental Neuroscience, 2738 Psychiatry and Mental Health, Eye tracking, Autism, 1312 Molecular Biology, 610 Medicine & health, Biomarker, 10058 Department of Child and Adolescent Psychiatry, Biological motion, Development
Published
2021

45. Gut mobilization improves behavioral symptoms and modulates urinary p‐cresol in chronically constipated autistic children: A prospective study

Author

Turriziani, Laura, primary, Ricciardello, Arianna, additional, Cucinotta, Francesca, additional, Bellomo, Fabiana, additional, Turturo, Giada, additional, Boncoddo, Maria, additional, Mirabelli, Silvestro, additional, Scattoni, Maria Luisa, additional, Rossi, Maddalena, additional, and Persico, Antonio M., additional

Published
2021
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46. Gut mobilization improves behavioral symptoms and modulates urinary p‐cresol in chronically constipated autistic children: A prospective study.

Author

Turriziani, Laura, Ricciardello, Arianna, Cucinotta, Francesca, Bellomo, Fabiana, Turturo, Giada, Boncoddo, Maria, Mirabelli, Silvestro, Scattoni, Maria Luisa, Rossi, Maddalena, and Persico, Antonio M.

Abstract

Chronic constipation is common among children with ASD and is associated with more severe hyperactivity, anxiety, irritability, and repetitive behaviors. Young autistic children with chronic constipation display higher urinary, and foecal concentrations of p‐cresol, an aromatic compound produced by gut bacteria, known to negatively affect brain function. Acute p‐cresol administration to BTBR mice enhances anxiety, hyperactivity and stereotypic behaviors, while blunting social interaction. This study was undertaken to prospectively assess the behavioral effects of gut mobilization in young autistic children with chronic constipation, and to verify their possible correlation with urinary p‐cresol. To this aim, 21 chronically constipated autistic children 2–8 years old were evaluated before (T0), 1 month (T1), and 6 months (T2) after intestinal mobilization, recording Bristol stool scale scores, urinary p‐cresol concentrations, and behavioral scores for social interaction deficits, stereotypic behaviors, anxiety, and hyperactivity. Gut mobilization yielded a progressive and highly significant decrease in all behavioral symptoms over the 6‐month study period. Urinary p‐cresol levels displayed variable trends not significantly correlated with changes in behavioral parameters, mainly increasing at T1 and decreasing at T2. These results support gut mobilization as a simple strategy to ameliorate ASD symptoms, as well as comorbid anxiety and hyperactivity, in chronically constipated children. Variation in p‐cresol absorption seemingly provides limited contributions, if any, to these behavioral changes. Further research will be needed to address the relative role of reduced abdominal discomfort following mobilization, as compared to specific modifications in microbiome composition and in gut bacteria‐derived neuroactive compounds. Lay Summary: Many autistic children suffer from chronic constipation. Gut mobilization in 21 chronically constipated autistic children followed prospectively for 6 months, consistently reduced hyperactivity, anxiety, sociocommunication deficits, restricted interests, and stereotypic behaviors. Changes in urinary p‐cresol, a gut bacteria‐derived neuroactive compound able to negatively affect brain function in rodent models, was not correlated with behavioral parameters, except for a marginal association with changes in anxiety. Gut mobilization significantly improves behavioral symptoms in chronically constipated autistic children, through multiple mechanisms possibly including, but not limited to, reduction in p‐cresol absorption. [ABSTRACT FROM AUTHOR]

Published
2022
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47. Molecular biomarkers to track clinical improvement following an integrative treatment model in autistic toddlers.

Author

Piras, Ignazio S., Manti, Filippo, Costa, Anna, Carone, Valentina, Scalese, Bruna, Talboom, Joshua S., Veronesi, Christian, Tabolacci, Claudio, Persico, Antonio M., Huentelman, Matthew J., Sacco, Roberto, and Lintas, Carla

Subjects
AUTISM spectrum disorders, TODDLERS, MEDICAL rehabilitation, BIOMARKERS, GENE expression
Abstract

Objectives: Identifying an objective, laboratory-based diagnostic tool (e.g. changes in gene expression), when used in conjunction with disease-specific clinical assessment, could increase the accuracy of the effectiveness of a therapeutic intervention. Methods: We assessed the association between treatment outcome and blood RNA expression before the therapeutic intervention to post-treatment (after 1 year) of five autism spectrum disorder (ASD) toddlers who underwent an intensive cognitive-behavioural intervention integrated with psychomotor and speech therapy. Results: We found 113 significant differentially expressed genes enriched for the nervous system, immune system, and transcription and translation-related pathways. Some of these genes, as MALAT-1, TSPO, and CFL1, appear to be promising candidates. Conclusions: Our findings show that changes in peripheral gene expression could be used in conjunction with clinical scales to monitor a rehabilitation intervention's effectiveness in toddlers affected by ASD. These results need to be validated in a larger cohort. [ABSTRACT FROM AUTHOR]

Published
2021
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48. Altered Connectivity Between Cerebellum, Visual, and Sensory-Motor Networks in Autism Spectrum Disorder: Results from the EU-AIMS Longitudinal European Autism Project

Author

Oldehinkel, Marianne, Mennes, Maarten, Marquand, Andre, Charman, Tony, Tillmann, Julian, Ecker, Christine, Dell’Acqua, Flavio, Brandeis, Daniel, Banaschewski, Tobias, Baumeister, Sarah, Moessnang, Carolin, Baron-Cohen, Simon, Holt, Rosemary, Bölte, Sven, Durston, Sarah, Kundu, Prantik, Lombardo, Michael V., Spooren, Will, Loth, Eva, Murphy, Declan G.M., Beckmann, Christian F., Buitelaar, Jan K., Ahmad, Jumana, Ambrosino, Sara, Auyeung, Bonnie, Banaschewski, Tobias, Baron-Cohen, Simon, Baumeister, Sarah, Beckmann, Christian F., Bölte, Sven, Bourgeron, Thomas, Bours, Carsten, Brammer, Michael, Brandeis, Daniel, Brogna, Claudia, de Bruijn, Yvette, Buitelaar, Jan K., Chakrabarti, Bhismadev, Charman, Tony, Cornelissen, Ineke, Crawley, Daisy, Dell’Acqua, Flavio, Dumas, Guillaume, Durston, Sarah, Ecker, Christine, Faulkner, Jessica, Frouin, Vincent, Garcés, Pilar, Goyard, David, Ham, Lindsay, Hayward, Hannah, Hipp, Joerg, Holt, Rosemary, Johnson, Mark H., Jones, Emily J.H., Kundu, Prantik, Lai, Meng-Chuan, Liogier D’ardhuy, Xavier, Lombardo, Michael V., Loth, Eva, Lythgoe, David J., Mandl, René, Marquand, Andre, Mason, Luke, Mennes, Maarten, Meyer-Lindenberg, Andreas, Moessnang, Carolin, Mueller, Nico, Murphy, Declan G.M., Oakley, Bethany, O’Dwyer, Laurence, Oldehinkel, Marianne, Oranje, Bob, Pandina, Gahan, Persico, Antonio M., Ruggeri, Barbara, Ruigrok, Amber, Sabet, Jessica, Sacco, Roberto, Cáceres, Antonia San José, Simonoff, Emily, Spooren, Will, Tillmann, Julian, Toro, Roberto, Tost, Heike, Waldman, Jack, Williams, Steve C.R., Wooldridge, Caroline, and Zwiers, Marcel P.

Abstract

Resting-state functional magnetic resonance imaging–based studies on functional connectivity in autism spectrum disorder (ASD) have generated inconsistent results. Interpretation of findings is further hampered by small samples and a focus on a limited number of networks, with networks underlying sensory processing being largely underexamined. We aimed to comprehensively characterize ASD-related alterations within and between 20 well-characterized resting-state networks using baseline data from the EU-AIMS (European Autism Interventions—A Multicentre Study for Developing New Medications) Longitudinal European Autism Project.

Published
2024
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