Article
Medical Laboratory Technology
Shimeng Chen, Xiaolu Deng, Juan Xiong, Fang He, Lifen Yang, Baiyu Chen, Chen Chen, Ciliu Zhang, Li Yang, Jing Peng, Fei Yin
Summary: This study explored the clinical and genetic characteristics of Chinese patients with de novo DEAF1 variants. The patients exhibited intellectual disability, language delay, and behavior problems. Interestingly, the DEAF1-related epilepsy in Eastern-Asian individuals was found to be completely treatable. The study expanded the knowledge of DEAF1-related neurodevelopmental disorder and the de novo variant database of DEAF1.
CLINICA CHIMICA ACTA
(2021)
Article
Genetics & Heredity
Francesca Semino, Julian Schroeter, Marjolein H. Willemsen, Thomas Bast, Saskia Biskup, Stefanie Beck-Woedl, Heiko Brennenstuhl, Christian P. Schaaf, Stefan Koelker, Georg F. Hoffmann, Tobias B. Haack, Steffen Syrbe
Summary: This study presents three individuals with novel de novo SYNCRIP variants, all showing intellectual disability, with some displaying autism features and epilepsy. The variants may lead to dysfunction of SYNCRIP, suggesting a correlation with neurodevelopmental disorders such as ID and ASD.
Article
Biology
Ethiraj Ravindran, Nobuto Arashiki, Lena-Luise Becker, Kohtaro Takizawa, Jonathan Levy, Thomas Rambaud, Konstantin L. Makridis, Yoshio Goshima, Na Li, Maaike Vreeburg, Benedicte Demeer, Achim Dickmanns, Alexander P. A. Stegmann, Hao Hu, Fumio Nakamura, Angela M. Kaindl
Summary: Variants in the CRMP1 gene are discovered to be associated with neurodevelopmental disorders such as muscular hypotonia, intellectual disability, and/or autism spectrum disorder. These variants may affect the protein structure and function of CRMP1, leading to alterations in cellular processes and neurite outgrowth.
Article
Genetics & Heredity
Chunyue Miao, Lin Du, Yu Zhang, Feiyong Jia, Ling Shan
Summary: This study reports a patient with intellectual disability, autism spectrum disorder (ASD), and attention-deficit hyperactivity disorder (ADHD) who carries a novel heterozygous truncating variant in the ZNF148 gene. This finding expands the genotype-phenotype spectrum of ZNF148 and suggests that ZNF148 may also be a potential target gene for ASD.
Article
Genetics & Heredity
Wen-Xiong Chen, Bin Liu, Lijie Zhou, Xiaoli Xiong, Jie Fu, Zhi-Fang Huang, Ting Tan, Mingxi Tang, Jun Wang, Ya-Ping Tang
Summary: This study identified new genetic predispositions for ASD accompanied by intellectual disability and found that genes related to intelligence quotient were enriched in protein synthesis, energy metabolism, and amino acid metabolism. These findings may be helpful for etiological research and early diagnosis of intellectual disability in ASD.
Article
Genetics & Heredity
Caroline Dias, Rolph Pfundt, Tjitske Kleefstra, Janneke Shuurs-Hoeijmakers, Elles M. J. Boon, Johanna M. van Hagen, Petra Zwijnenburg, Marjan M. Weiss, Boris Keren, Cyril Mignot, Arnaud Isapof, Karin Weiss, Tova Hershkovitz, Maria Iascone, Silvia Maitz, Rene G. Feichtinger, Dieter Kotzot, Johannes A. Mayr, Tawfeg Ben-Omran, Laila Mahmoud, Lynn S. Pais, Christopher A. Walsh, Vandana Shashi, Jennifer A. Sullivan, Nicholas Stong, Francois Lecoquierre, Anne-Marie Guerrot, Aude Charollais, Lance H. Rodan
Summary: Mutations in the TCF7L2 gene are associated with developmental delays, intellectual disabilities, eye problems, craniofacial abnormalities, and neuropsychiatric comorbidities such as autism and ADHD. However, most patients eventually achieve normal intelligence. Research on TCF7L2 variations will have significant implications for medical management and future studies.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2021)
Article
Medicine, General & Internal
Hyunjin Kwon, Hyokju Maeng, Jinwook Chung
Summary: This study developed an ICT-based exergame for children with developmental disabilities (DD) and examined its impacts on physical fitness and fundamental motor skills (FMS). The results showed that the exergame program significantly improved physical fitness and three FMS (hop, overhand throw, and dribble) in children with DD except for the horizontal jump skill.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Public, Environmental & Occupational Health
Tsung Yu, Yueh-Ju Lien, Fu-Wen Liang, Pao-Lin Kuo
Summary: The study from Taiwan suggests that parental socioeconomic status is associated with the risk of autism spectrum disorder in offspring, with higher SES independently correlated with higher ASD risk. In contrast, higher SES was independently associated with lower risk of intellectual disability. Potential factors related to socio-economic status may contribute to the positive relation of SES and ASD risk.
AMERICAN JOURNAL OF EPIDEMIOLOGY
(2021)
Article
Medical Laboratory Technology
Shimeng Chen, Juan Xiong, Baiyu Chen, Ciliu Zhang, Xiaolu Deng, Fang He, Lifen Yang, Chen Chen, Jing Peng, Fei Yin
Summary: This study retrospectively analyzed the clinical characteristics and genetic spectrum of 79 ASD-NDDs patients, and found that 51.3% of the patients received a genetic diagnosis. Most patients had comorbid intellectual disability or global developmental delay, as well as epilepsy. The study also identified novel candidate genes related to ASD.
CLINICA CHIMICA ACTA
(2022)
Review
Genetics & Heredity
Verica Vasic, Mattson S. O. Jones, Denise Haslinger, Lisa S. Knaus, Michael J. Schmeisser, Gaia Novarino, Andreas G. Chiocchetti
Summary: This study reviews the associations between mutations affecting mTOR or RAS signaling and high risk for Autism Spectrum Disorder (ASD), suggesting an increased liability for ASD in individuals with dysmorphic features and intellectual disability (ID) in RAS- and mTOR-related gene mutations. Animal and human cell models confirm aberrant neuronal development as the underlying pathology, with multiple hits required to induce respective phenotypes. Clinical trials show improvements for comorbid conditions but not for behavioral aspects, emphasizing the need for further investigation into the differential roles of mTOR and RAS signaling in human and rodent models.
Article
Genetics & Heredity
Marije Meuwissen, Aline Verstraeten, Emmanuelle Ranza, Justyna Iwaszkiewicz, Maaike Bastiaansen, Ligia Mateiu, Merlijn Nemegeer, Josephina A. N. Meester, Alexandra Afenjar, Michelle Amaral, Diana Ballhausen, Sarah Barnett, Magalie Barth, Bob Asselbergh, Katrien Spaas, Bavo Heeman, Jennifer Bassetti, Patrick Blackburn, Marie Schaer, Xavier Blanc, Vincent Zoete, Kari Casas, Thomas Courtin, Diane Doummar, Frederic Guerry, Boris Keren, John Pappas, Rachel Rabin, Amber Begtrup, Marwan Shinawi, Anneke T. Vulto-van Silfhout, Tjitske Kleefstra, Matias Wagner, Alban Ziegler, Elise Schaefer, Benedicte Gerard, Charlotte De Bie, Sjoerd J. B. Holwerda, Mary Alice Abbot, Stylianos E. Antonarakis, Bart Loeys
Summary: This study describes a neurodevelopmental disorder caused by de novo variants in CTR9, primarily affecting PAF1C function. Clinical features of the patients include intellectual disability, hypotonia, joint hyperlaxity, speech delay, coordination problems, tremor, and autism spectrum disorder.
GENETICS IN MEDICINE
(2022)
Article
Clinical Neurology
Trine Tangeraas, Juliana R. Constante, Paul Hoff Backe, Alfonso Oyarzabal, Julia Neugebauer, Natalie Weinhold, Francois Boemer, Francois G. Debray, Burcu Ozturk-Hism, Gumus Evren, Eminoglu F. Tuba, Oncul Ummuhan, Emma Footitt, James Davison, Caroline Martinez, Clarissa Bueno, Irene Machado, Pilar Rodriguez-Pombo, Nouriya Al-Sannaa, Mariela de los Santos, Jordi Muchart Lopez, Hatice Ozturkmen-Akay, Meryem Karaca, Mustafa Tekin, Sonia Pajares, Aida Ormazabal, Stephanie D. Stoway, Rafael Artuch, Marjorie Dixon, Lars Morkrid, Angeles Garcia-Cazorla
Summary: Branched-chain ketoacid dehydrogenase kinase (BCKDK) deficiency is a neurodevelopmental disorder characterized by autism, intellectual disability and microcephaly. This study reports the largest cohort of patients studied, expanding the phenotypic and genotypic spectrum, and provides newborn screening findings and mid-term clinical outcome.
Article
Behavioral Sciences
Ning Pan, Bonnie Auyeung, Xin Wang, Li-Zi Lin, Hai-Lin Li, Xiao-Ling Zhan, Cheng-Kai Jin, Jin Jing, Xiu-Hong Li
Summary: This study examined the profiles of empathizing, systemizing, and empathizing-systemizing difference in children with autism spectrum disorder (ASD) with and without intellectual disability (ASD + ID; ASD-noID) and typically developing (TD) children aged 6-12 years. Differences in these profiles and the consistency of their associations with autistic traits were observed among the three groups. Empathizing and empathizing-systemizing difference, rather than systemizing, were closely associated with autistic traits within the three groups. The findings suggest the importance of considering these imbalanced profiles in behavioral interventions for ASD.
Article
Neurosciences
Floriana Valentino, Lucia Pia Bruno, Gabriella Doddato, Annarita Giliberti, Rossella Tita, Sara Resciniti, Chiara Fallerini, Mirella Bruttini, Caterina Lo Rizzo, Maria Antonietta Mencarelli, Francesca Mari, Anna Maria Pinto, Francesca Fava, Margherita Baldassarri, Alessandra Fabbiani, Vittoria Lamacchia, Elisa Benetti, Kristina Zguro, Simone Furini, Alessandra Renieri, Francesca Ariani
Summary: This study utilized exome sequencing to identify a high rate of pathogenic variants in a cohort of 200 patients, with some genes responsible for established genetic syndromes and new candidate genes discovered. The results highlight the importance of exome sequencing in the diagnosis of ID/ASD.
Article
Genetics & Heredity
Theresa Brunet, Robert Jech, Melanie Brugger, Reka Kovacs, Bader Alhaddad, Gloria Leszinski, Korbinian M. Riedhammer, Dominik S. Westphal, Isabella Mahle, Katharina Mayerhanser, Matej Skorvanek, Sandrina Weber, Elisabeth Graf, Riccardo Berutti, Jan Necpal, Petra Havrankova, Petra Pavelekova, Maja Hempel, Urania Kotzaeridou, Georg F. Hoffmann, Steffen Leiz, Christine Makowski, Timo Roser, Sebastian A. Schroeder, Robert Steinfeld, Gertrud Strobl-Wildemann, Julia Hoefele, Ingo Borggraefe, Felix Distelmaier, Tim M. Strom, Juliane Winkelmann, Thomas Meitinger, Michael Zech, Matias Wagner
Summary: Up to 40% of neurodevelopmental disorders have a documented underlying monogenic defect, primarily due to de novo variants. The study showed an overall diagnostic yield of 49.8%, with de novo variants contributing to more than 80% of all solved cases. Additionally, novel disease genes and potential pathogenic variants were identified in this research.
Article
Neurosciences
Clara A. Moreau, Annabelle Harvey, Kuldeep Kumar, Guillaume Huguet, Sebastian G. W. Urchs, Elise A. Douard, Laura M. Schultz, Hanad Sharmarke, Khadije Jizi, Charles-Olivier Martin, Nadine Younis, Petra Tamer, Thomas Rolland, Jean-Louis Martineau, Pierre Orban, Ana Isabel Silva, Jeremy Hall, Marianne B. M. van den Bree, Michael J. Owen, David E. J. Linden, Aurelie Labbe, Sarah Lippe, Carrie E. Bearden, Laura Almasy, David C. Glahn, Paul M. Thompson, Thomas Bourgeron, Pierre Bellec, Sebastien Jacquemont
Summary: Polygenicity and genetic heterogeneity pose challenges in studying psychiatric disorders. This study estimated and compared the effect sizes on brain connectivity of different genetic risk factors and found that psychiatric CNVs had the largest effect sizes, followed by psychiatric conditions, neuroticism and fluid intelligence, and PRSs. The effect sizes of CNVs on connectivity were correlated with their effects on cognition and disease risk.
BIOLOGICAL PSYCHIATRY
(2023)
Article
Clinical Neurology
Clara A. Moreau, Kuldeep Kumar, Annabelle Harvey, Guillaume Huguet, Sebastian G. W. Urchs, Laura M. Schultz, Hanad Sharmarke, Khadije Jizi, Charles-Olivier Martin, Nadine Younis, Petra Tamer, Jean-Louis Martineau, Pierre Orban, Ana Isabel Silva, Jeremy Hall, Marianne B. M. van den Bree, Michael J. Owen, David E. J. Linden, Sarah Lippe, Carrie E. Bearden, Laura Almasy, David C. Glahn, Paul M. Thompson, Thomas Bourgeron, Pierre Bellec, Sebastien Jacquemont
Summary: This study uses large-scale resting-state functional MRI data to investigate the influence of genetic variants on large-scale brain networks and their correlations with psychiatric disorders and cognitive traits. The findings suggest a substantial genetic component for shared connectivity profiles across conditions and traits, providing new avenues for understanding and treating psychiatric disorders.
Article
Behavioral Sciences
Aline Lefebvre, Julian Tillmann, Freddy Cliquet, Frederique Amsellem, Anna Maruani, Claire Leblond, Anita Beggiato, David Germanaud, Anouck Amestoy, Myriam Ly-Le Moal, Daniel Umbricht, Christopher Chatham, Lorraine Murtagh, Manuel Bouvard, Marion Leboyer, Tony Charman, Thomas Bourgeron, Richard Delorme, Guillaume Dumas
Summary: This study aimed to characterize hypo/hyper-sensory profiles among autistic individuals and explore their association with deleterious mutations. The results showed significant differences in profiles between autistic individuals and controls, with relatives exhibiting an intermediate profile. Genetic analysis suggested an association between hyposensitivity and mutations in the GABAergic pathway.
Article
Behavioral Sciences
Charles Laidi, Nathan Neu, Aurelie Watilliaux, Axelle Martinez-Teruel, Mihoby Razafinimanana, Jennifer Boisgontier, Sevan Hotier, Marc-Antoine d'albis, Richard Delorme, Anouck Amestoy, Stefan Holiga, Myriam Ly-Le Moal, Pierrick Coupe, Marion Leboyer, Josselin Houenou, Laure Rondi-Reig, Anne-Lise Paradis
Summary: This study investigated the navigation behavior of individuals with autism spectrum disorder (ASD) and typically developing (TD) adults, as well as the relationship with their brain anatomy. The findings showed that individuals with ASD had similar navigation behavior and cerebellar anatomy compared to the TD controls.
Article
Psychiatry
Sarah Baumeister, Carolin Moessnang, Nico Bast, Sarah Hohmann, Pascal Aggensteiner, Anna Kaiser, Julian Tillmann, David Goyard, Tony Charman, Sara Ambrosino, Simon Baron-Cohen, Christian Beckmann, Sven Bolte, Thomas Bourgeron, Annika Rausch, Daisy Crawley, Flavio Dell'Acqua, Guillaume Dumas, Sarah Durston, Christine Ecker, Dorothea L. Floris, Vincent Frouin, Hannah Hayward, Rosemary Holt, Mark H. Johnson, Emily J. H. Jones, Meng-Chuan Lai, Michael Lombardo, Luke Mason, Bethany Oakley, Marianne Oldehinkel, Antonio M. Persico, Antonia San Jose Caceres, Thomas Wolfers, Eva Loth, Declan G. M. Murphy, Jan K. Buitelaar, Heike Tost, Andreas Meyer-Lindenberg, Tobias Banaschewski, Daniel Brandeis
Summary: This study aimed to assess reward processing in individuals with autism spectrum disorder (ASD) in response to social and monetary rewards. The results showed that individuals with ASD exhibited hypoactivation in the right ventral striatum during reward anticipation compared to typically developing participants. However, there was no significant hyperactivation during the delivery of rewards. These findings do not support current theories linking atypical social interaction in ASD to specific alterations in social reward processing.
BRITISH JOURNAL OF PSYCHIATRY
(2023)
Review
Biology
Dimitris Bolis, Guillaume Dumas, Leonhard Schilbach
Summary: In this article, the authors analyze social interactions from various perspectives such as dialectics, second-person neuroscience, and enactivism. They propose the concept of interpersonal attunement as a multi-scale process of anticipating and interacting with others and ourselves. The authors argue that collective psychophysiology can provide a fine-tuned analysis of social interactions, while also recognizing the importance of individual experiences. They also discuss how an interpersonal mismatch of expectations can lead to communication breakdown and negatively affect mental health, and propose an interpersonalized psychiatry approach to promote mental health through understanding the multi-faceted processes of social interaction.
PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Mathieu Georget, Elodie Lejeune, Julien Buratti, Euphrasie Servant, Eric le Guern, Delphine Heron, Boris Keren, Jean-Madeleine de Sainte Agathe
Summary: ADNP, a well-known gene in intellectual disability, mainly exhibits loss of function variants in its last exon. In this study, we describe the first case of a patient with intellectual disability caused by an intragenic inversion in ADNP. RNAseq experiment revealed splice skipping of the inverted exons. In-silico analysis of the mutated transcript suggested that initiation of translation at different ATGs led to haploinsufficiency. This rearrangement was hypothesized to be caused by Alu-mediated non-allelic-homologous recombination and may represent an underdiagnosed recurrent mutation in ADNP-related disorders, since it cannot be detected by exome sequencing.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Neurosciences
Justine Fraize, Clara Fischer, Monique Elmaleh-Berges, Eliot Kerdreux, Anita Beggiato, Alexandra Ntorkou, Edouard Duchesnay, Dhaif Bekha, Odile Boespflug-Tanguy, Richard Delorme, Lucie Hertz-Pannier, David Germanaud
Summary: This study revealed that the cerebellum and cerebellar cortex in patients with FASD are significantly underdeveloped, particularly in the anterior and posterior regions. This finding has important implications for the diagnosis of FASD.
HUMAN BRAIN MAPPING
(2023)
Article
Biochemistry & Molecular Biology
Charlotte Pretzsch, Dorothea Floris, Tim V. Schaefer, Anke H. Bletsch, Caroline Gurr, Michael Lombardo, Chris Chatham, Julian Tillmann, Tony Charman, Martina Arenella, Emily Jones, Sara Ambrosino, Thomas S. Bourgeron, Guillaume Dumas, Freddy Cliquet, Claire K. Leblond, Eva Loth, Bethany F. Oakley, Jan M. Buitelaar, Simon Baron-Cohen, Christian Beckmann, Antonio M. Persico, Tobias Banaschewski, Sarah Durston, Christine Freitag, Declan G. M. Murphy, Christine Ecker
Summary: Individuals with autism spectrum disorder show significant variation in clinical outcomes, which is crucial to understand for developing precision-medicine approaches. This study found that distinct neuroanatomical and genetic profiles are associated with different adaptive behavior changes in autistic individuals, suggesting potential targets for interventions.
MOLECULAR PSYCHIATRY
(2023)
Article
Multidisciplinary Sciences
Manik Kuchroo, Marcello DiStasio, Eric Song, Eda Calapkulu, Le Zhang, Maryam Ige, Amar H. Sheth, Abdelilah Majdoubi, Madhvi Menon, Alexander Tong, Abhinav Godavarthi, Yu Xing, Scott Gigante, Holly Steach, Jessie Huang, Guillaume Huguet, Janhavi Narain, Kisung You, George Mourgkos, Rahul M. Dhodapkar, Matthew J. Hirn, Bastian Rieck, Guy Wolf, Smita Krishnaswamy, Brian P. Hafler
Summary: The study used single-nucleus RNA sequencing to investigate the shared pathways and glial activation in age-related macular degeneration and other neurodegenerative diseases. They identified early-stage enriched glial populations and a signaling axis mediated by interleukin-1 beta in late-stage age-related macular degeneration. This study provides potential therapeutic targets for age-related macular degeneration and other neurodegenerative conditions.
NATURE COMMUNICATIONS
(2023)
Article
Neurosciences
Ana Gomez-Carrillo, Vincent Paquin, Guillaume Dumas, Laurence J. Kirmayer
Summary: Precision psychiatry is part of the shift to personalized medicine, using frameworks like RDoC, biological omics data, and computational psychiatry. It recognizes that a one-size-fits-all approach is inadequate and focuses on genetic markers and advanced technology for more specific and precise treatment. However, the search for precision has mostly focused on biological factors, ignoring the need for analysis of psychological, social, and cultural dimensions.
FRONTIERS IN NEUROSCIENCE
(2023)
Article
Psychology, Biological
Jakub Kopal, Kuldeep Kumar, Karin Saltoun, Claudia Modenato, Clara A. Moreau, Sandra Martin-Brevet, Guillaume Huguet, Martineau Jean-Louis, Charles-Olivier Martin, Zohra Saci, Nadine Younis, Petra Tamer, Elise Douard, Anne M. Maillard, Borja Rodriguez-Herreros, Aurelie Pain, Sonia Richetin, Leila Kushan, Ana I. Silva, Marianne B. M. van den Bree, David E. J. Linden, Michael J. Owen, Jeremy Hall, Sarah Lippe, Bogdan Draganski, Ida E. Sonderby, Ole A. Andreassen, David C. Glahn, Paul M. Thompson, Carrie E. Bearden, Sebastien Jacquemont, Danilo Bzdok
Summary: The researchers built computational bridges between rare CNVs in a clinical dataset and their deep phenotypic profiling in a large population. The results showed that CNVs are associated with various organ systems across the body, with implications for major brain disorders.
NATURE HUMAN BEHAVIOUR
(2023)
Article
Psychology, Multidisciplinary
Bassam Khoury, Viktoriya Manova, Lena Adel, Guillaume Dumas, Michael Lifshitz, Rodrigo C. C. Vergara, Harmehr Sekhon, Soham Rej
Summary: According to CDC data, over 14% of the US population practices mindfulness meditation. While the effects of mindfulness training on physical and mental health are well-documented, its impact on interpersonal relationships remains unclear. This paper proposes a theoretical model of interpersonal mindfulness and a study protocol to validate this model. The study aims to investigate the mechanisms through which mindfulness meditation training enhances self-awareness, self-regulation, and prosocial behavior, ultimately improving interpersonal interactions and socioemotional support. The proposed study has important implications for theory and society, and could lead to the development of more effective interpersonal mindfulness programs in various domains.
FRONTIERS IN PSYCHOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Thomas Rolland, Freddy Cliquet, Richard J. L. Anney, Clara Moreau, Nicolas Traut, Alexandre Mathieu, Guillaume Huguet, Jinjie Duan, Varun Warrier, Swan Portalier, Louise Dry, Claire S. Leblond, Elise Douard, Frederique Amsellem, Simon Malesys, Anna Maruani, Roberto Toro, Anders D. Borglum, Jakob Grove, Simon Baron-Cohen, Alan Packer, Wendy K. Chung, Sebastien Jacquemont, Richard Delorme, Thomas Bourgeron
Summary: The prevalence of autism-associated genetic variants in individuals without a diagnosis of autism is explored. These variants are associated with a decrease in fluid intelligence, qualification level, income, and an increase in metrics related to material deprivation. Autism-associated genes have a larger impact on these phenotypic features than other genes with loss-of-function variants.
Proceedings Paper
Computer Science, Artificial Intelligence
Natalie Kastel, Guillaume Dumas
Summary: This paper applies an active Inference framework to analyze how innovation emerges from a population of communicating agents in a cumulative culture. The model suggests that innovation occurs when a collective group of agents collectively agree on the legitimacy of an alternative belief to the existing belief.
ACTIVE INFERENCE, IWAI 2022
(2023)