Review
Pharmacology & Pharmacy
George T. Chen, Daniel H. Geschwind
Summary: Neurodevelopmental Disorders (NDDs) encompass a wide range of disorders, including autism spectrum disorders (ASD) and schizophrenia (SCZ), which are linked to brain developmental processes. The clinical treatment of these disorders has traditionally focused on symptom management due to the variability in developmental disruption and limited knowledge of the underlying molecular mechanisms. With the identification of several hundred genes associated with ASD and SCZ, there is potential for new therapeutic approaches and the opportunity for precision medicine. This review discusses the progress in research technologies that enhance our understanding of disease progression and highlights advances in targeted clinical treatment and ongoing preclinical efforts in NDD precision medicine.
ADVANCED DRUG DELIVERY REVIEWS
(2022)
Article
Psychiatry
Charlotte E. E. Blackmore, Alexandra Nolan, Vladimira Stoencheva, Natalie Greenwood, Natasha Liu-Thwaites, Stefanos Maltezos, Grainne M. M. McAlonan
Summary: An online adaptation of the Autism Diagnostic Observation Schedule (ADOS-2) was found to perform comparably to the in-person ADOS-2, making it a viable alternative when in-person assessments are not possible. Qualitative feedback suggested that only 27% of patients would have preferred an in-person assessment. Clinicians reported gains from offering an online alternative.
Article
Psychiatry
Liliana Dell'Osso, Giulia Amatori, Barbara Carpita, Gabriele Massimetti, Benedetta Nardi, Davide Gravina, Francesca Benedetti, Chiara Bonelli, Danila Casagrande, Mario Luciano, Isabella Berardelli, Natascia Brondino, Marianna De Gregorio, Giacomo Deste, Marta Nola, Antonino Reitano, Maria Rosaria Anna Muscatello, Maurizio Pompili, Pierluigi Politi, Antonio Vita, Mario Maj
Summary: Several studies have found a correlation between autism spectrum disorder (ASD) and catatonia, both of which are also associated with mood disorders. This study aimed to investigate the relationship between autistic traits and catatonic symptoms, as well as the potential mediating role of mood disorder spectrum. The results showed strong positive correlations, with the strongest coefficient observed between AdAS Spectrum total score and CS total score. Mediation analysis revealed that the mood disorder spectrum had a significant indirect effect on the relationship between autistic traits and catatonic symptoms.
FRONTIERS IN PSYCHIATRY
(2023)
Article
Nutrition & Dietetics
Saijun Huang, Xin Wang, Tao Sun, Hong Yu, Yanwei Liao, Muqing Cao, Li Cai, Xiuhong Li, Lizi Lin, Xi Su, Jin Jing
Summary: Previous studies have shown that exclusive breastfeeding is associated with lower odds of having ASD in children. This cross-sectional study conducted in seven cities in China found that toddlers with partial breastfeeding or without breastfeeding had higher odds of having ASD compared to those with exclusive breastfeeding.
Article
Environmental Sciences
Xing Zhang, Dongmeng Mei, Yongfang Li, Mingdan You, Da Wang, Dianqi Yao, Yuanyuan Xu, Lingling Zhai, Yi Wang
Summary: This study aimed to investigate whether exposure to arsenic during pregnancy and lactation leads to autism-like behaviors in offspring mice. The results showed that perinatal exposure to arsenic caused abnormal social behaviors and repetitive behaviors in male offspring mice, along with anxiety-like behaviors and learning and memory impairments. Immunofluorescence staining and western blotting revealed that perinatal exposure to arsenic resulted in decreases of synaptic density in the cortex, hippocampus, and cerebellum, which may contribute to the autism-like behaviors observed in offspring.
Review
Psychiatry
V Nezgovorova, C. J. Ferretti, B. P. Taylor, E. Shanahan, G. Uzunova, K. Hong, O. Devinsky, E. Hollander
Summary: Current treatments for ASD are limited in efficacy, leading to the need for novel experimental therapeutics. The endocannabinoid system may play a role in the pathogenesis of ASD, making phytocannabinoids a potential effective treatment for core symptoms.
JOURNAL OF PSYCHIATRIC RESEARCH
(2021)
Review
Immunology
Bruno Bonnechere, Najaf Amin, Cornelia van Duijn
Summary: The study reviewed different microbiota involved in neuropsychiatric diseases and assessed the overlap between different pathologies. The findings provide new insights into the complex relationship between the brain and the gut and the implications in neuropsychiatric pathologies. The identification of unique signatures in neuropsychiatric diseases suggests new possibilities in targeted anti or probiotic treatment.
FRONTIERS IN CELLULAR AND INFECTION MICROBIOLOGY
(2022)
Article
Psychology, Developmental
Thomas I. Mackie, Ana J. Schaefer, Leah Ramella, Alice S. Carter, Abbey Eisenhower, Manuel E. Jimenez, Angel Fettig, R. Christopher Sheldrick
Summary: This study found that during the screening process to determine if a child has ASD, parents need to go through processes of heightened sensitivity, differentiation from other developmental conditions, and using the ASD diagnosis to explain concerning behaviors. Identifying these interpretive processes during ASD screening opens up new opportunities for shared decision-making.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
(2021)
Article
Psychiatry
Sarah Cassidy, Sheena Au-Yeung, Ashley Robertson, Heather Cogger-Ward, Gareth Richards, Carrie Allison, Louise Bradley, Rebecca Kenny, Rory O'Connor, David Mosse, Jacqui Rodgers, Simon Baron-Cohen
Summary: This study found that elevated autistic traits are significantly over-represented in individuals who die by suicide. The characteristics of those who died, regardless of evidence of autism, are largely similar with a high number of multiple risk markers.
BRITISH JOURNAL OF PSYCHIATRY
(2022)
Review
Biochemistry & Molecular Biology
Sanjay Kumar, Muneera Mashkoor, Anne Grove
Summary: Ribosome biogenesis is an energetically costly process that requires tight regulation for stoichiometric balance, with mTORC1 playing a key role in response to nutrient availability and stress. Transcription factors Ifh1p and Crf1p in yeast are crucial for regulation of ribosomal protein genes, with recent evidence suggesting Crf1p may also function as an activator to prevent re-binding of Ifh1p upon mTORC1 inhibition. This backup activation mechanism could be essential for ensuring gene expression when Ifh1p is limiting, highlighting the complexity of ribosome biogenesis regulation.
COMPUTATIONAL AND STRUCTURAL BIOTECHNOLOGY JOURNAL
(2022)
Article
Biology
Diana Weiting Tan, Syed Zulqarnain Gilani, Gail A. Alvares, Ajmal Mian, Andrew J. O. Whitehouse, Murray T. Maybery
Summary: The broad autism phenotype refers to sub-clinical levels of autistic-like behavior and cognition in biological relatives of autistic people. A recent study found that increased facial masculinity may also be a feature of the broad autism phenotype. This study further investigated the presence of increased facial masculinity among non-autistic parents of autistic children and found that they had significantly higher masculinity scores and larger facial distances compared to a comparison group.
PROCEEDINGS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES
(2022)
Article
Biotechnology & Applied Microbiology
Fang Ye, Xinying Gao, Zhiyi Wang, Shuman Cao, Guangcai Liang, Danni He, Zhitang Lv, Liming Wang, Pengfei Xu, Qi Zhang
Summary: Significant differences in the composition of the gut microbiome were observed between boys with ASD and neurotypical controls in this study, contributing to the understanding of gut microbiome alterations in ASD patients and opening up the possibility for early identification of the disease.
SYNTHETIC AND SYSTEMS BIOTECHNOLOGY
(2021)
Article
Multidisciplinary Sciences
Shi-Hao Wu, Xiao Li, Dong-Dong Qin, Lin-Heng Zhang, Tian-Lin Cheng, Zhi-Fang Chen, Bin-Bin Nie, Xiao-Feng Ren, Jing Wu, Wen-Chao Wang, Ying-Zhou Hu, Yi-Lin Gu, Long-Bao Lv, Yong Yin, Xin-Tian Hu, Zi-Long Qiu
Summary: The study induced genetic mutations in MECP2 gene in the brains of adolescent rhesus monkeys, leading to a series of autistic-like behavioral abnormalities, indicating that acute manipulation of disease-causing genes directly results in behavioral changes; Some aspects of ASD and RTT did not appear in the gene-edited monkeys, hinting that different brain areas may contribute to distinct ASD symptoms.
Article
Biochemistry & Molecular Biology
Giovanna Trinchese, Fabiano Cimmino, Gina Cavaliere, Angela Catapano, Chiara Fogliano, Adriano Lama, Claudio Pirozzi, Claudia Cristiano, Roberto Russo, Lidia Petrella, Rosaria Meli, Giuseppina Mattace Raso, Marianna Crispino, Bice Avallone, Maria Pina Mollica
Summary: This study investigates the role of the liver in autism spectrum disorders (ASD) and identifies hepatic mitochondrial dysfunction as a potential target for innovative therapeutic strategies for the disease. The findings reveal a link between liver inflammation, oxidative stress, and mitochondrial dysfunction in ASD.
Article
Microbiology
Amanda H. Dilmore, Daniel McDonald, Tanya T. Nguyen, James B. Adams, Rosa Krajmalnik-Brown, Emmanuel Elijah, Pieter C. Dorrestein, Rob Knight
Summary: This study characterized the gut microbiome and metabolome in PTHS individuals and their unaffected parents, revealing a higher load of Clostridium bolteae in PTHS individuals compared to their parents and other individuals. The findings suggest a microbial involvement in PTHS, with specific metabolites associated with the condition also found in patients with inflammatory bowel disease and obesity.
Article
Biochemistry & Molecular Biology
Tess Levy, Jennifer H. Foss-Feig, Catalina Betancur, Paige M. Siper, Maria Pilar Trelles-Thorne, Danielle Halpern, Yitzchak Frank, Reymundo Lozano, Christina Layton, Bari Britvan, Jonathan A. Bernstein, Joseph D. Buxbaum, Elizabeth Berry-Kravis, Craig M. Powell, Siddharth Srivastava, Mustafa Sahin, Latha Soorya, Audrey Thurm, Alexander Kolevzon
Summary: This study investigated genotype-phenotype associations in individuals with Phelan-McDermid syndrome (PMS). The results showed that individuals with Class I deletions or sequence variants had fewer delayed developmental milestones and higher cognitive ability, but more skill regressions. Individuals with Class II deletions were more likely to have various medical features. Those with Class I deletions or sequence variants were more likely to have psychiatric diagnoses. Autism spectrum disorder diagnoses did not differ between groups.
HUMAN MOLECULAR GENETICS
(2022)
Article
Medicine, General & Internal
Nathan Risch, Jonathan Dubois, Katia M'bailara, Irena Cussac, Bruno Etain, Raoul Belzeaux, Caroline Dubertret, Emmanuel Haffen, Raymund Schwan, Ludovic Samalin, Paul Roux, Mircea Polosan, Marion Leboyer, Philippe Courtet, Emilie Olie
Summary: In patients with bipolar disorder, pain prevalence is close to 30%. This study found that pain was associated with depressive symptomatology, emotional reactivity, and personality traits. Furthermore, pain predicted depression and lower global life functioning in the long-term.
JOURNAL OF CLINICAL MEDICINE
(2022)
Review
Clinical Neurology
Melvin G. McInnis, Ole A. Andreassen, Ana C. Andreazza, Uri Alon, Michael Berk, Teri Brister, Katherine E. Burdick, Donghong Cui, Mark Frye, Marion Leboyer, Philip B. Mitchell, Kathleen Merikangas, Andrew A. Nierenberg, John Nurnberger, Daniel Pham, Eduard Vieta, Lakshmi N. Yatham, Allan H. Young
Summary: Bipolar disorder is a complex condition with onset in late adolescence, complicated by comorbid medical and psychiatric disorders. The etiology and reliable biological markers remain unknown, suggesting the need for large-scale global longitudinal studies to determine causes and improve treatment.
Article
Genetics & Heredity
Erin Rooney Riggs, Taylor Bingaman, Carrie-Ann Barry, Andrea Behlmann, Krista Bluske, Bret Bostwick, Alison Bright, Chun-An Chen, Amanda R. Clause, Avinash Dharmadhikari, Mythily Ganapathi, Claudia Gonzaga-Jauregui, Andrew R. Grant, Madeline Y. Hughes, Se Rin Kim, Amanda Krause, Jun Liao, Aime Lumaka, Michelle Mah, Caitlin M. Maloney, Shruthi Mohan, Ikeoluwa A. Osei-Owusu, Emma Reble, Olivia Rennie, Juliann M. Savatt, Hermela Shimelis, Rebecca K. Siegert, Tam P. Sneddon, Courtney Thaxton, Kelly A. Toner, Kien Trung Tran, Ryan Webb, Emma H. Wilcox, Jiani Yin, Xinming Zhuo, Masa Znidarsic, Christa Lese Martin, Catalina Betancur, Jacob A. S. Vorstman, David T. Miller, Christian P. Schaaf
Summary: Neurodevelopmental disorders such as intellectual disability and autism spectrum disorder exhibit genetic and phenotypic heterogeneity, making it difficult to differentiate them without molecular diagnosis. The Intellectual Disability/Autism Gene Curation Expert Panel uses systematic curation to distinguish genes appropriate for clinical testing from those that are not. Most of the evaluated gene-disease pairs have definitive roles in neurodevelopmental disorders, but some genes have limited or disputed evidence and are currently not recommended for clinical testing. The panel emphasizes the need for periodic re-examination of gene-disease relationships to avoid perpetuating inaccurate claims.
GENETICS IN MEDICINE
(2022)
Review
Biochemistry & Molecular Biology
M. Morrens, C. Overloop, V Coppens, E. Loots, M. Van den Noortgate, S. Vandenameele, M. Leboyer, L. De Picker
Summary: This meta-analysis found only weak associations between blood-based immune markers and cognition in mood and psychotic disorders. Significant publication and reporting biases were observed.
MOLECULAR PSYCHIATRY
(2022)
Article
Psychiatry
Luana Spano, Bruno Etain, Jean-Louis Laplanche, Marion Leboyer, Sebastien Gard, Frank Bellivier, Cynthia Marie-Claire
Summary: This study finds consistency in cellular aging biomarkers between individuals with bipolar disorder and their siblings, suggesting shared environmental or genetic factors.
WORLD JOURNAL OF BIOLOGICAL PSYCHIATRY
(2023)
Article
Psychiatry
Eva M. Penas-Lledo, Sebastien Guillaume, Fernando de Andres, Ana Cortes-Martinez, Jonathan Dubois, Jean Pierre Kahn, Marion Leboyer, Emilie Olie, Adrian LLerena, Philippe Courtet
Summary: This study examines the predictors of repeat suicide attempts among treatment-compliant survivors of a suicide attempt, focusing on high metabolic capacity and polypharmacy treatments. The findings highlight the importance of considering rapid metabolism and polypharmacy treatment in preventing severe side effects of multiple suicide reattempts.
TRANSLATIONAL PSYCHIATRY
(2022)
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
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
Genetics & Heredity
Yannis Elandaloussi, Dorothea L. Floris, Pierrick Coupe, Edouard Duchesnay, Angeline Mihailov, Antoine Grigis, Indrit Begue, Julie Victor, Vincent Frouin, Marion Leboyer, Josselin Houenou, Charles Laidi
Summary: This study analyzed structural MRI data from a large pediatric and transdiagnostic sample and found a significant association between cerebellar volume and social difficulties. The results reveal a complex relationship between cerebellar structure, social performance, and IQ.
Review
Genetics & Heredity
Siddharth Srivastava, Mustafa Sahin, Joseph D. Buxbaum, Elizabeth Berry-Kravis, Latha Valluripalli Soorya, Audrey Thurm, Jonathan A. Bernstein, Afua Asante-Otoo, William E. E. Bennett Jr, Catalina Betancur, Tegwyn H. Brickhouse, Maria Rita Passos Bueno, Maya Chopra, Celanie K. Christensen, Jennifer L. Cully, Kira Dies, Kate Friedman, Brittany Gummere, J. Lloyd Holder Jr, Andres Jimenez-Gomez, Carolyn A. Kerins, Omar Khan, Teresa Kohlenberg, Ronald V. Lacro, Lori A. Levi, Tess Levy, Diane Linnehan, Loth Eva, Baharak Moshiree, Ann Neumeyer, Scott M. Paul, Katy Phelan, Antonio Persico, Robert Rapaport, Curtis Rogers, Jeffrey Saland, Swathi Sethuram, Janine Shapiro, Phillip I. Tarr, Kerry M. White, Jordan Wickstrom, Kent M. Williams, Dana Winrow, Brian Wishart, Alexander Kolevzon
Summary: Phelan-McDermid syndrome (PMS) is a genetic condition caused by SHANK3 haploinsufficiency and characterized by a wide range of neurodevelopmental and systemic manifestations. Updated clinical management guidelines have been established to reflect the latest knowledge in PMS and provide guidance for clinicians, researchers, and the general community. These guidelines were developed by a taskforce consisting of clinical experts in PMS and representatives from the parent community.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Article
Biochemistry & Molecular Biology
Baptiste Pignon, Valentina Decio, Philippe Pirard, Olivier Bouaziz, Emmanuelle Corruble, Pierre A. Geoffroy, Viviane Kovess-Masfety, Marion Leboyer, Cedric Lemogne, Jonathan Messika, Vittorio Perduca, Franck Schurhoff, Nolwenn Regnault, Sarah Tebeka
Summary: COVID-19 may not increase the risk of hospitalization for psychotic disorders, as patients initially hospitalized for COVID-19 had a lower rate of subsequent hospitalization for psychotic disorders compared to those initially hospitalized for other reasons. This finding contradicts the hypothesis that there is an increased risk of psychotic disorders after a severe COVID-19 infection. Importantly, a history of psychotic disorder was found to be a major determinant of hospitalization for psychotic disorders.
MOLECULAR PSYCHIATRY
(2023)
Correction
Genetics & Heredity
Yannis Elandaloussi, Dorothea L. L. Floris, Pierrick Coupe, Edouard Duchesnay, Angeline Mihailov, Antoine Grigis, Indrit Begue, Julie Victor, Vincent Frouin, Marion Leboyer, Josselin Houenou, Charles Laidi
Article
Psychiatry
Alejandro Orrico-Sanchez, Bruno P. Guiard, Stella Manta, Jacques Callebert, Jean-Marie Launay, Franck Louis, Antoine Paccard, Carole Gruszczynski, Catalina Betancur, Vincent Vialou, Sophie Gautron
Summary: This study provides the first evidence of the physiological relevance of OCT2-mediated tryptophan transport and its biological consequences on serotonin homeostasis in the brain and SSRI efficacy.
TRANSLATIONAL PSYCHIATRY
(2023)
Article
Neurosciences
Alexis Vancappel, Yecodji Dansou, Ophelia Godin, Emmanuel Haffen, Antoine Yrondi, Florian Stephan, Raphaelle Marie Richieri, Fanny Moliere, Jerome Holtzmann, Mathilde Horn, Etienne Allauze, Jean Baptiste Genty, Alex Bouvard, Jean-Michel Dorey, Vincent Hennion, Vincent Camus, Guillaume Fond, Barbara Peran, Michel Walter, Loic Anguill, Charlotte Scotto D'apolina, Estelle Vila, Benjamin Fredembach, Jean Petrucci, Romain Rey, Anne Sophie Nguon, Bruno Etain, Mathilde Carminati, Philippe Courtet, Guillaume Vaiva, Pierre Michel Llorca, Marion Leboyer, Bruno Aouizerate, Djamila Bennabi, Wissam El Hage
Summary: This study examines the relationship between cognitive impairments and treatment response in patients with treatment-resistant depression. The findings suggest that cognitive scores improve after therapeutic response, with greater improvement observed in patients with better treatment response. Therefore, cognitive remediation should be provided after therapeutic response to enhance patients' daily functioning.