Conceptual framework for data harmonisation in mental health using the International Classification of Functioning, Disability and Health: an example with the R2D2-MH consortium

Authors: Louise Gallagher, Tony Charman, Dieter Wolke, Jan Buitelaar, Sven Bölte, Emily Jones, Thomas Bourgeron, Marie Schaer, Kristien Hens, Declan Murphy, Melissa H Black, Christine Ecker, Yair Sadaka, Beate St Pourcain, Stef Bonnot-Briey

Source: BMJ Mental Health, Vol 27, Iss 1 (2024)

Subject Terms: Psychiatry, RC435-571

File Description: electronic resource

Relation: https://mentalhealth.bmj.com/content/27/1/e301283.full; https://doaj.org/toc/2755-9734

Access URL: https://doaj.org/article/26b08ebed6b04012a284e989157479db

Effectiveness of a positive psychology and mindfulness-based app on mental health for parents of children with a neurodevelopmental disorder: study protocol of a pragmatic international randomized controlled trial

Authors: Kim J. M. Tönis, Constance H. C. Drossaert, Peter M. ten Klooster, Marie Schaer, Thomas Bourgeron, Jan K. Buitelaar, Yair Sadaka, Christine M. Freitag, Keren Mayer Lapidus, Andreas G. Chiocchetti, Wouter G. Staal, Ernst T. Bohlmeijer

Source: Trials, Vol 25, Iss 1, Pp 1-13 (2024)

Subject Terms: Randomized controlled trial, RCT, Effectiveness, Application, Self-help, Digital intervention, Medicine (General), R5-920

File Description: electronic resource

Relation: https://doaj.org/toc/1745-6215

Access URL: https://doaj.org/article/140abf6153134da8bc6f177796d13509

European Autism GEnomics Registry (EAGER): protocol for a multicentre cohort study and registry

Authors: Louise Gallagher, Michael Absoud, Miguel Castelo-Branco, Tony Charman, Maja Hempel, Richard Delorme, Guiomar Oliveira, Roberta Battini, Sven Bölte, Claire S Leblond, Thomas Bourgeron, Alexandra Lautarescu, Mercedes Serrano, Federico Vigevano, Christian P Schaaf, Bethany Oakley, Julian Tillmann, Pierre Violland, Declan G M Murphy, Sarah Douglas, Paolo Bonanni, Grainne McAlonan, Roberta Milone, Josefina Castro-Fornieles, Madeleine Bloomfield, Síofra Heraty, Roderik Plas, Anjuli Ghosh, Katrien Van den Bosch, Eliza Eaton, Ana Blázquez Hinojosa, Nadia Bolshakova, Jacqueline Borg, Sara Calderoni, Rosa Calvo Escalona, Pilar Caro, Freddy Cliquet, Alberto Danieli, Maurizio Elia, Nuno Madeira, Ciara J Molloy, Susana Mouga, Virginia Montiel, Ana Pina Rodrigues, Kristiina Tammimies, Charlotte Tye, Beatrice Mazzone, Cara O’Neill, Julie Pender, Verena Romero, Christopher Chatham

Source: BMJ Open, Vol 14, Iss 6 (2024)

Subject Terms: Medicine

File Description: electronic resource

Relation: https://bmjopen.bmj.com/content/14/6/e080746.full; https://doaj.org/toc/2044-6055

Access URL: https://doaj.org/article/815fdc95324e48c4ab0f1f29dd80968c

Exploring the multidimensional nature of repetitive and restricted behaviors and interests (RRBI) in autism: neuroanatomical correlates and clinical implications

Authors: Aline Lefebvre, Nicolas Traut, Amandine Pedoux, Anna Maruani, Anita Beggiato, Monique Elmaleh, David Germanaud, Anouck Amestoy, Myriam Ly-Le Moal, Christopher Chatham, Lorraine Murtagh, Manuel Bouvard, Marianne Alisson, Marion Leboyer, Thomas Bourgeron, Roberto Toro, Guillaume Dumas, Clara Moreau, Richard Delorme

Source: Molecular Autism, Vol 14, Iss 1, Pp 1-11 (2023)

Subject Terms: RRB, Phenotype, Cortico-striatal-thalamo-cortical loop, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://doaj.org/toc/2040-2392

Access URL: https://doaj.org/article/7a031292aee347089ecc2b9dc7593eaf

The neuroanatomical substrates of autism and ADHD and their link to putative genomic underpinnings

Authors: Lisa M. Berg, Caroline Gurr, Johanna Leyhausen, Hanna Seelemeyer, Anke Bletsch, Tim Schaefer, Charlotte M. Pretzsch, Bethany Oakley, Eva Loth, Dorothea L. Floris, Jan K. Buitelaar, Christian F. Beckmann, Tobias Banaschewski, Tony Charman, Emily J. H. Jones, Julian Tillmann, Chris H. Chatham, Thomas Bourgeron, The EU-AIMS LEAP Group, Declan G. Murphy, Christine Ecker

Source: Molecular Autism, Vol 14, Iss 1, Pp 1-14 (2023)

Subject Terms: ASD, ADHD, Neurodevelopmental disorders, Comorbidity, Imaging-genetics, Structural MRI, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://doaj.org/toc/2040-2392

Access URL: https://doaj.org/article/48d830bcd6af483b8cb5548ecb4a5519

Fine-grained topographic organization within somatosensory cortex during resting-state and emotional face-matching task and its association with ASD traits

Authors: Christina Isakoglou, Koen V. Haak, Thomas Wolfers, Dorothea L. Floris, Alberto Llera, Marianne Oldehinkel, Natalie J. Forde, Bethany F. M. Oakley, Julian Tillmann, Rosemary J. Holt, Carolin Moessnang, Eva Loth, Thomas Bourgeron, Simon Baron-Cohen, Tony Charman, Tobias Banaschewski, Declan G. M. Murphy, Jan K. Buitelaar, Andre F. Marquand, Christian F. Beckmann

Source: Translational Psychiatry, Vol 13, Iss 1, Pp 1-10 (2023)

Subject Terms: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: https://doaj.org/toc/2158-3188

Access URL: https://doaj.org/article/712369da7c32477cafd4d8813f36bb21

Excitatory/inhibitory imbalance in autism: the role of glutamate and GABA gene-sets in symptoms and cortical brain structure

Authors: Viola Hollestein, Geert Poelmans, Natalie J. Forde, Christian F. Beckmann, Christine Ecker, Caroline Mann, Tim Schäfer, Carolin Moessnang, Sarah Baumeister, Tobias Banaschewski, Thomas Bourgeron, Eva Loth, Flavio Dell’Acqua, Declan G. M. Murphy, Nicolaas A. Puts, Julian Tillmann, Tony Charman, Emily J. H. Jones, Luke Mason, Sara Ambrosino, Rosemary Holt, Sven Bölte, Jan K. Buitelaar, Jilly Naaijen

Source: Translational Psychiatry, Vol 13, Iss 1, Pp 1-9 (2023)

Subject Terms: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: https://doaj.org/toc/2158-3188

Access URL: https://doaj.org/article/e83023aeeeab4df09a5c4172ff9204e6

Excessive self-grooming, gene dysregulation and imbalance between the striosome and matrix compartments in the striatum of Shank3 mutant mice

Authors: Allain-Thibeault Ferhat, Elisabeth Verpy, Anne Biton, Benoît Forget, Fabrice De Chaumont, Florian Mueller, Anne-Marie Le Sourd, Sabrina Coqueran, Julien Schmitt, Christelle Rochefort, Laure Rondi-Reig, Aziliz Leboucher, Anne Boland, Bertrand Fin, Jean-François Deleuze, Tobias M. Boeckers, Elodie Ey, Thomas Bourgeron

Source: Frontiers in Molecular Neuroscience, Vol 16 (2023)

Subject Terms: autism, Shank3, mouse model, stereotyped behavior, striatum compartmentation, GAD65, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fnmol.2023.1139118/full; https://doaj.org/toc/1662-5099

Access URL: https://doaj.org/article/1f5100953b6448ccaffca7973b2673db

Phelan-McDermid syndrome: a classification system after 30 years of experience

Authors: Katy Phelan, Luigi Boccuto, Craig M. Powell, Tobias M. Boeckers, Conny van Ravenswaaij-Arts, R. Curtis Rogers, Carlo Sala, Chiara Verpelli, Audrey Thurm, William E. Bennett, Christopher J. Winrow, Sheldon R. Garrison, Roberto Toro, Thomas Bourgeron

Source: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-4 (2022)

Subject Terms: Phelan-McDermid syndrome, PMS, SHANK3, 22q13 deletion, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/399efd35b13d49aca4c80ce2e31e1dfa

Cortico-Cerebellar neurodynamics during social interaction in Autism Spectrum Disorders

Authors: Fleur Gaudfernau, Aline Lefebvre, Denis-Alexander Engemann, Amandine Pedoux, Anna Bánki, Florence Baillin, Benjamin Landman, Anna Maruani, Frederique Amsellem, Thomas Bourgeron, Richard Delorme, Guillaume Dumas

Source: NeuroImage: Clinical, Vol 39, Iss , Pp 103465- (2023)

Subject Terms: Neurodevelopment, Social Cognition, Theta Oscillations, Cerebellum, Digital Psychiatry, Autism, Computer applications to medicine. Medical informatics, R858-859.7, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2213158223001547; https://doaj.org/toc/2213-1582

Access URL: https://doaj.org/article/645536a14f2042689655bda26e27e1f3

A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder

Authors: Livia O. Loureiro, Jennifer L. Howe, Miriam S. Reuter, Alana Iaboni, Kristina Calli, Delnaz Roshandel, Iva Pritišanac, Alan Moses, Julie D. Forman-Kay, Brett Trost, Mehdi Zarrei, Olivia Rennie, Lynette Y. S. Lau, Christian R. Marshall, Siddharth Srivastava, Brianna Godlewski, Elizabeth D. Buttermore, Mustafa Sahin, Dean Hartley, Thomas Frazier, Jacob Vorstman, Stelios Georgiades, Suzanne M. E. Lewis, Peter Szatmari, Clarrisa A. (Lisa) Bradley, Anne-Claude Tabet, Marjolaine Willems, Serge Lumbroso, Amélie Piton, James Lespinasse, Richard Delorme, Thomas Bourgeron, Evdokia Anagnostou, Stephen W. Scherer

Source: npj Genomic Medicine, Vol 6, Iss 1, Pp 1-12 (2021)

Subject Terms: Medicine, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2056-7944

Access URL: https://doaj.org/article/54f8fe923ab549de9877b0baef9d1c16

Detecting Central Auditory Processing Disorders in Awake Mice

Authors: Camille Dejean, Typhaine Dupont, Elisabeth Verpy, Noémi Gonçalves, Sabrina Coqueran, Nicolas Michalski, Sylvie Pucheu, Thomas Bourgeron, Boris Gourévitch

Source: Brain Sciences, Vol 13, Iss 11, p 1539 (2023)

Subject Terms: central auditory processing disorders, autism spectrum disorders, awake mice, auditory steady-state response, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: https://www.mdpi.com/2076-3425/13/11/1539; https://doaj.org/toc/2076-3425

Access URL: https://doaj.org/article/737fd434ef784eb6b1ae4b3e5bda9296

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

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

Source: Communications Biology, Vol 4, Iss 1, Pp 1-13 (2021)

Subject Terms: Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://doaj.org/toc/2399-3642

Access URL: https://doaj.org/article/c94c4da54e7f411495da1401f7a3c862

Decreased phenol sulfotransferase activities associated with hyperserotonemia in autism spectrum disorders

Authors: Cécile Pagan, Marion Benabou, Claire Leblond, Freddy Cliquet, Alexandre Mathieu, Nathalie Lemière, Hany Goubran-Botros, Richard Delorme, Marion Leboyer, Jacques Callebert, Thomas Bourgeron, Jean-Marie Launay

Source: Translational Psychiatry, Vol 11, Iss 1, Pp 1-11 (2021)

Subject Terms: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: https://doaj.org/toc/2158-3188

Access URL: https://doaj.org/article/b4b9eb21b06748ebbc6ea0d7aceced5f

Mutations associated with neuropsychiatric conditions delineate functional brain connectivity dimensions contributing to autism and schizophrenia

Authors: Clara A. Moreau, Sebastian G. W. Urchs, Kumar Kuldeep, Pierre Orban, Catherine Schramm, Guillaume Dumas, Aurélie Labbe, Guillaume Huguet, Elise Douard, Pierre-Olivier Quirion, Amy Lin, Leila Kushan, Stephanie Grot, David Luck, Adrianna Mendrek, Stephane Potvin, Emmanuel Stip, Thomas Bourgeron, Alan C. Evans, Carrie E. Bearden, Pierre Bellec, Sebastien Jacquemont

Source: Nature Communications, Vol 11, Iss 1, Pp 1-12 (2020)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/c8046adb9f7945e59d7f1cd01bd68a9a

Insights from an autism imaging biomarker challenge: Promises and threats to biomarker discovery

Authors: Nicolas Traut, Katja Heuer, Guillaume Lemaître, Anita Beggiato, David Germanaud, Monique Elmaleh, Alban Bethegnies, Laurent Bonnasse-Gahot, Weidong Cai, Stanislas Chambon, Freddy Cliquet, Ayoub Ghriss, Nicolas Guigui, Amicie de Pierrefeu, Meng Wang, Valentina Zantedeschi, Alexandre Boucaud, Joris van den Bossche, Balázs Kegl, Richard Delorme, Thomas Bourgeron, Roberto Toro, Gaël Varoquaux

Source: NeuroImage, Vol 255, Iss , Pp 119171- (2022)

Subject Terms: Autism, diagnostic, machine learning, benchmark, overfit, prediction, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1053811922002981; https://doaj.org/toc/1095-9572

Access URL: https://doaj.org/article/1fea146ac4c34cb3954bdb6784be4e75

The Synaptic Gene Study: Design and Methodology to Identify Neurocognitive Markers in Phelan-McDermid Syndrome and NRXN1 Deletions

Authors: Jennifer Cooke, Ciara J. Molloy, Antonia San José Cáceres, Thomas Dinneen, Thomas Bourgeron, Declan Murphy, Louise Gallagher, Eva Loth

Source: Frontiers in Neuroscience, Vol 16 (2022)

Subject Terms: synaptopathies, autism, rare genetic variants, biomarker, Phelan-McDermid syndrome, NRXN1 deletion, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fnins.2022.806990/full; https://doaj.org/toc/1662-453X

Access URL: https://doaj.org/article/8cfd6d1aed9a44a58e08f864e4a56e4f

From Symptomatology to Functioning -- Applying the ICF to Autism Measures to Facilitate Neurodiversity-Affirmative Data Harmonization

Authors: Melissa H. Black (ORCID 0000-0003-0293-4053), Karl Lundin Remnélius (ORCID 0000-0002-0270-8358), Lovisa Alehagen (ORCID 0009-0006-9727-0999), Thomas Bourgeron (ORCID 0000-0001-8164-9220), Sven Bölte (ORCID 0000-0002-4579-4970)

Source: Journal of Autism and Developmental Disorders. 2025 55(1):114-129.

Peer Reviewed: Y

Page Count: 16

Descriptors: Symptoms (Individual Disorders), Classification, Measures (Individuals), Autism Spectrum Disorders, Generalizability Theory, Diversity, Screening Tests, Diagnostic Tests, Environmental Influences

Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

Authors: Rahel T. Florian, Florian Kraft, Elsa Leitão, Sabine Kaya, Stephan Klebe, Eloi Magnin, Anne-Fleur van Rootselaar, Julien Buratti, Theresa Kühnel, Christopher Schröder, Sebastian Giesselmann, Nikolai Tschernoster, Janine Altmueller, Anaide Lamiral, Boris Keren, Caroline Nava, Delphine Bouteiller, Sylvie Forlani, Ludmila Jornea, Regina Kubica, Tao Ye, Damien Plassard, Bernard Jost, Vincent Meyer, Jean-François Deleuze, Yannick Delpu, Mario D. M. Avarello, Lisanne S. Vijfhuizen, Gabrielle Rudolf, Edouard Hirsch, Thessa Kroes, Philipp S. Reif, Felix Rosenow, Christos Ganos, Marie Vidailhet, Lionel Thivard, Alexandre Mathieu, Thomas Bourgeron, Ingo Kurth, Haloom Rafehi, Laura Steenpass, Bernhard Horsthemke, FAME consortium, Eric LeGuern, Karl Martin Klein, Pierre Labauge, Mark F. Bennett, Melanie Bahlo, Jozef Gecz, Mark A. Corbett, Marina A. J. Tijssen, Arn M. J. M. van den Maagdenberg, Christel Depienne

Source: Nature Communications, Vol 10, Iss 1, Pp 1-14 (2019)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/2f5cdb4c14f6434cb404877f2fe7a12e

The meaning of significant mean group differences for biomarker discovery.

Authors: Eva Loth, Jumana Ahmad, Chris Chatham, Beatriz López, Ben Carter, Daisy Crawley, Bethany Oakley, Hannah Hayward, Jennifer Cooke, Antonia San José Cáceres, Danilo Bzdok, Emily Jones, Tony Charman, Christian Beckmann, Thomas Bourgeron, Roberto Toro, Jan Buitelaar, Declan Murphy, Guillaume Dumas

Source: PLoS Computational Biology, Vol 17, Iss 11, p e1009477 (2021)

Subject Terms: Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://doaj.org/toc/1553-734X; https://doaj.org/toc/1553-7358

Access URL: https://doaj.org/article/629a873022144e9c8bfb48ce61106e14