Article
Computer Science, Artificial Intelligence
Marcos Y. O. Camada, Jes J. F. Cerqueira, Antonio M. N. Lima
Summary: This paper proposes a computational model to infer activation levels from recognized stereotyped behaviors. Machine Learning Algorithms are used to identify and determine the related activation levels. Experiments were conducted with non-autistic participants.
APPLIED SOFT COMPUTING
(2021)
Article
Psychology, Multidisciplinary
Blanca T. M. Spee, Ronald Sladky, Joerg Fingerhut, Alice Laciny, Christoph Kraus, Sidney Carls-Diamante, Christof Brucke, Matthew Pelowski, Marco Treven
Summary: The article discusses the phenomenological variability of repetitive stereotyped behaviors (RSBs) and their relationship with basal ganglia feedback signals in certain neuropsychiatric conditions. Comparing obsessive-compulsive disorder, Parkinson's disease, and autism spectrum conditions, the study suggests that basal ganglia feedback plays a central role in predicting and adjusting movement-related perception. RSBs may represent compensatory or reactive responses, and changes in basal ganglia function could explain alterations in creativity and aesthetic experience.
FRONTIERS IN PSYCHOLOGY
(2022)
Article
Clinical Neurology
Onella Athnaiel, Greeshma A. Job, Roberto Ocampo, Pamela Teneqexhi, William S. Messer, Michael E. Ragozzino
Summary: The study found that CDD-0102A attenuated behavioral flexibility deficits and stereotyped motor behaviors in BTBR mice, but not in B6 mice. Treatment with CDD-0102A may reduce repetitive behaviors and restricted interests in autism by stimulating striatal M-1 muscarinic receptors.
INTERNATIONAL JOURNAL OF NEUROPSYCHOPHARMACOLOGY
(2022)
Review
Neurosciences
Tanya Gandhi, Charles C. Lee
Summary: Autism spectrum disorder (ASD) is characterized by alterations in social interaction, communication, and repetitive behaviors. Rodent models exhibiting ASD-like phenotypes are useful for studying neural mechanisms and therapeutic strategies for repetitive behaviors in ASD and related neuropsychiatric disorders. Understanding the mechanisms and circuit alterations in rodent models can inform translational research in this area.
FRONTIERS IN CELLULAR NEUROSCIENCE
(2021)
Article
Psychiatry
Shucai Jiang, Maotao He, Lifei Xiao, Yu Sun, Jiangwei Ding, Wenchao Li, Baorui Guo, Lei Wang, Yangyang Wang, Caibin Gao, Tao Sun, Feng Wang
Summary: This study demonstrated the potential of prenatal baclofen treatment in correcting autism-like behaviors in mice exposed to valproic acid (VPA) during pregnancy. The results also suggested the heritability of autism symptoms in patients with prenatal VPA exposure. Furthermore, prenatal baclofen administration was found to have beneficial effects on the autism-like phenotype in the offspring of VPA-exposed mice.
FRONTIERS IN PSYCHIATRY
(2022)
Article
Psychiatry
Jessica M. Schwartzman, Zachary J. Williams, Jared K. Richards, Samantha R. Mattheiss, Katherine O. Gotham
Summary: Depression is more prevalent among autistic adults, and the insistence on sameness behavior is moderately related to depressive symptoms in this population. However, repetitive sensorimotor behaviors have only a slight impact on predicting depression. Neuroticism has a strong positive relationship with depression, completely attenuating the effect of insistence on sameness behavior. This study provides important insights into risk factors for depression in autism.
FRONTIERS IN PSYCHIATRY
(2022)
Review
Neurosciences
Junbin Tian, Xuping Gao, Li Yang
Summary: Autism spectrum disorder is a complex neurodevelopmental disorder characterized by deficits in social communication, social interaction, and repetitive restricted behaviors. Understanding the potential mechanisms behind these behaviors is crucial for finding new treatment options.
FRONTIERS IN NEUROSCIENCE
(2022)
Article
Behavioral Sciences
Jagadeeswaran Indumathy, April Pruitt, Nicole M. Gautier, Kaitlin Crane, Edward Glasscock
Summary: The study found that mutations related to epilepsy result in a significant reduction in repetitive behaviors but normal social interactions, while partial deletion of the Kcna1 gene leads to increased self-grooming and decreased sociability, indicating characteristics similar to autism spectrum disorder. In double-mutant mice, the mutations interact to partially normalize behaviors associated with autism spectrum disorder.
BRAIN AND BEHAVIOR
(2021)
Review
Behavioral Sciences
Miguel Comparan-Meza, Ivette Vargas de la Cruz, Fernando Jauregui-Huerta, Rocio E. Gonzalez-Castaneda, Oscar Gonzalez-Perez, Alma Y. Galvez-Contreras
Summary: This study examined the biopsychological correlates of RRBs in ASD patients, exploring the etiology, continuance, and clinical evolution of these behaviors. Alterations in neurotransmission system, brain volume, growth factors, neural connectivity, behavioral inhibition, cognitive flexibility, and environmental factors were identified as key factors in the origin of RRBs, suggesting potential targets for novel therapeutic strategies.
BRAIN AND BEHAVIOR
(2021)
Review
Biochemistry & Molecular Biology
Robyn P. Thom, Christopher J. McDougle
Summary: This article describes how to recognize and classify different types of repetitive thoughts and behaviors in autism spectrum disorder, clarifying which phenomena should be considered a core feature of autism spectrum disorder and which phenomena are indicative of a comorbid psychiatric disorder. Repetitive thoughts can be differentiated based on whether they are distressing and the individual's degree of insight, while repetitive behaviors can be classified based on whether they are voluntary, goal-directed/purposeful, and rhythmic.
ACS CHEMICAL NEUROSCIENCE
(2023)
Article
Pediatrics
N. Sunil Kumar, Prahbhjot Malhi, Bhavneet Bharti, Lokesh Saini
Summary: This study compared the frequency of repetitive behaviors among children with autism spectrum disorder, developmentally delayed children, and typically developing children. Results showed that children with ASD had significantly higher total scores and number of endorsed items on the Repetitive Behaviors Scale-Revised (RBS-R).
INDIAN JOURNAL OF PEDIATRICS
(2022)
Review
Behavioral Sciences
Bryan D. Alvarez, Cassandra Cavazos, Cheyenne A. Morales, Shannon M. Lopez, Dionisio A. Amodeo
Summary: Restricted, repetitive behaviors (RRBs) are commonly divided into lower-order and higher-order categories. Modulation of specific serotonin receptors can affect lower-order RRBs, but different receptors have varying effects on RRBs. Further research on less explored receptors and understanding their different modulation effects may be crucial for developing therapeutic approaches for RRBs.
FRONTIERS IN BEHAVIORAL NEUROSCIENCE
(2022)
Article
Psychology, Developmental
Mirko Uljarevic, Thomas W. Frazier, Booil Jo, Lawrence Scahill, Eric A. Youngstrom, Emily Spackman, Jennifer M. Phillips, Wesley Billingham, Antonio Hardan
Summary: The study aimed to validate the Dimensional Assessment of Restricted and Repetitive Behaviors (DARB), a new parent-report measure. Results showed that the DARB had good factor structure, reliability, and validity, and it can be useful in research and clinical contexts for autism spectrum disorder.
JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY
(2023)
Article
Genetics & Heredity
Yong-hong Zhao, Hong-guang Fu, Hui Cheng, Rui-juan Zheng, Guo Wang, Sheng Li, En-yao Li, Li-guo Li
Summary: This study found that electroacupuncture at ST36 can improve autistic-like behaviors and nerve function in rats by activating Nrf2 and the antioxidant response.
Article
Neurosciences
Yu-Chiao Wang, Chin-Hao Chen, Cheng-Yi Yang, Pin Ling, Kuei-Sen Hsu
Summary: This study found that a high-fat diet (HFD) worsened the autistic-like phenotypes of Autism Spectrum Disorder (ASD), resulting in increased restricted repetitive behaviors and impaired preference for social novelty. HFD also caused an increase in reactive microglia and astrocytes, as well as exacerbated reductions in dendritic complexity and spine density of hippocampal CA1 pyramidal neurons. Chronic treatment with minocycline showed potential in rescuing these behavioral and morphological deficits.
MOLECULAR NEUROBIOLOGY
(2023)
Review
Neurosciences
Leanna M. Hernandez, Minsoo Kim, Gil D. Hoftman, Jillian R. Haney, Luis de la Torre-Ubieta, Bogdan Pasaniuc, Michael J. Gandal
Summary: Researchers discuss the opportunities and challenges of high-throughput transcriptomic profiling in the human brain, and how it can help pinpoint mechanisms underlying genetic risk for psychiatric disorders. They propose systematic approaches for integrating different levels of genetics, genomics, and phenomics, including combining spatially resolved gene expression with human neuroimaging maps. Results emphasize the importance of understanding gene expression regulation across human brain development in the pathogenesis of psychiatric diseases.
BIOLOGICAL PSYCHIATRY
(2021)
Article
Multidisciplinary Sciences
Gokul Ramaswami, Hyejung Won, Michael J. Gandal, Jillian Haney, Jerry C. Wang, Chloe C. Y. Wong, Wenjie Sun, Shyam Prabhakar, Jonathan Mill, Daniel H. Geschwind
NATURE COMMUNICATIONS
(2020)
Editorial Material
Neurosciences
Michael J. Gandal, Daniel H. Geschwind
BIOLOGICAL PSYCHIATRY
(2021)
Editorial Material
Biochemical Research Methods
Prashant S. Emani, Jonathan Warrell, Alan Anticevic, Stefan Bekiranov, Michael Gandal, Michael J. McConnell, Guillermo Sapiro, Alan Aspuru-Guzik, Justin T. Baker, Matteo Bastiani, John D. Murray, Stamatios N. Sotiropoulos, Jacob Taylor, Geetha Senthil, Thomas Lehner, Mark B. Gerstein, Aram W. Harrow
Summary: Quantum computing, leveraging the unique properties of quantum mechanics, addresses the challenges of scale and complexity in biological sciences and facilitates the integration of insights across different areas.
Article
Neurosciences
Nicholas F. Page, Michael J. Gandal, Myka L. Estes, Scott Cameron, Jessie Buth, Sepideh Parhami, Gokul Ramaswami, Karl Murray, David G. Amaral, Judy A. Van de Water, Cynthia M. Schumann, Cameron S. Carter, Melissa D. Bauman, A. Kimberley McAllister, Daniel H. Geschwind
Summary: Utilizing a nonhuman primate model exposed to a viral mimic during pregnancy, researchers studied the impact of gene expression in the offspring's brain, identifying 266 unique genes with differential expression in at least one brain region, particularly in the hippocampus. These findings help elucidate how MIA may increase the risk of neuropsychiatric disorders through molecular pathways.
BIOLOGICAL PSYCHIATRY
(2021)
Article
Neurosciences
Minsoo Kim, Jillian R. Haney, Pan Zhang, Leanna M. Hernandez, Lee-kai Wang, Laura Perez-Cano, Loes M. Olde Loohuis, Luis de la Torre-Ubieta, Michael J. Gandal
Summary: The study found no significant genetic enrichment among known complement system genes for schizophrenia (SCZ), but genes downregulated when C4A expression increases exhibit strong and specific genetic enrichment for SCZ risk. This indicates that synaptic pathways, rather than the complement system, are the driving force conferring SCZ risk. Brain genetic co-expression networks pinpoint specific and convergent synaptic pathways through which genetic variation at the C4 locus imparts risk for schizophrenia.
NATURE NEUROSCIENCE
(2021)
Article
Neurosciences
Ranmal A. Samarasinghe, Osvaldo A. Miranda, Jessie E. Buth, Simon Mitchell, Isabella Ferando, Momoko Watanabe, Thomas F. Allison, Arinnae Kurdian, Namie N. Fotion, Michael J. Gandal, Peyman Golshani, Kathrin Plath, William E. Lowry, Jack M. Parent, Istvan Mody, Bennett G. Novitch
Summary: This paper explores neural network and cellular complexity within human cortical and subcortical fusion organoids, revealing network dysfunction associated with Rett syndrome. The findings demonstrate the potential of brain organoids in modeling human neurological diseases and the utility in therapeutic discovery.
NATURE NEUROSCIENCE
(2021)
Article
Biochemical Research Methods
Arunabha Majumdar, Claudia Giambartolomei, Na Cai, Tanushree Haldar, Tommer Schwarz, Michael Gandal, Jonathan Flint, Bogdan Pasaniuc
Summary: The study introduces a statistical approach that leverages tissue-specific expression quantitative trait loci (eQTLs) to prioritize relevant tissues underlying genetic predisposition for complex traits on an individual level. By analyzing data from the UK Biobank, the approach accurately predicts relevant tissues and groups individuals based on tissue-specific genetic architecture. The results suggest that genetic predisposition for certain traits may be mediated primarily through specific tissues, leading to distinct phenotypic features beyond traditional measures like BMI and WHRadjBMI.
PLOS COMPUTATIONAL BIOLOGY
(2021)
Article
Multidisciplinary Sciences
Morten Dybdahl Krebs, Goncalo Espregueira Themudo, Michael Eriksen Benros, Ole Mors, Anders D. Borglum, David Hougaard, Preben Bo Mortensen, Merete Nordentoft, Michael J. Gandal, Chun Chieh Fan, Daniel H. Geschwind, Andrew J. Schork, Thomas Werge, Wesley K. Thompson
Summary: Schizophrenia is a heterogeneous disorder with high prevalence of psychiatric comorbidity, which can be captured by specific patterns and is associated with genetic and environmental factors. The study utilizes computational approaches to illustrate these complex patterns and their implications in schizophrenia outcomes.
NATURE COMMUNICATIONS
(2021)
Article
Multidisciplinary Sciences
Stefano Berto, Alex H. Treacher, Emre Caglayan, Danni Luo, Jillian R. Haney, Michael J. Gandal, Daniel H. Geschwind, Albert A. Montillo, Genevieve Konopka
Summary: This study integrates gene expression data from brains of neurotypical individuals and individuals with autism spectrum disorder (ASD) with functional magnetic resonance imaging (fMRI) data to identify disrupted brain expression patterns in individuals with ASD, particularly genes associated with voltage-gated ion channels and inhibitory neurons. The research also highlights differences in the developmental trajectory of certain genes in individuals with ASD compared to controls, and shows that the primary visual cortex is the most affected region in ASD.
NATURE COMMUNICATIONS
(2022)
Article
Neurosciences
Katherine E. Lawrence, Zvart Abaryan, Emily Laltoo, Leanna M. Hernandez, Michael J. Gandal, James T. McCracken, Paul M. Thompson
Summary: Sex differences in white matter microstructure were examined in over 6000 children between 9 and 10 years old. Significant and replicable differences were found in both conventional and advanced diffusion-weighted imaging metrics. Boys exhibited greater diffusion metrics, while girls showed increased cell density. These findings provide an important foundation for understanding sex differences in health and disease.
HUMAN BRAIN MAPPING
(2023)
Letter
Biochemistry & Molecular Biology
Gabriel E. Hoffman, Andrew E. Jaffe, Michael J. Gandal, Leonardo Collado-Torres, Solveig K. Sieberts, Bernie Devlin, Daniel H. Geschwind, Daniel R. Weinberger, Panos Roussos
MOLECULAR PSYCHIATRY
(2023)
Article
Multidisciplinary Sciences
Michael J. Gandal, Jillian R. Haney, Brie Wamsley, Chloe X. Yap, Sepideh Parhami, Prashant S. Emani, Nathan Chang, George T. Chen, Gil D. Hoftman, Diego de Alba, Gokul Ramaswami, Christopher L. Hartl, Arjun Bhattacharya, Chongyuan Luo, Ting Jin, Daifeng Wang, Riki Kawaguchi, Diana Quintero, Jing Ou, Ye Emily Wu, Neelroop N. Parikshak, Vivek Swarup, T. Grant Belgard, Mark Gerstein, Bogdan Pasaniuc, Daniel H. Geschwind
Summary: This study demonstrates widespread transcriptomic changes in the cerebral cortex of individuals with autism spectrum disorder (ASD), with an anterior-to-posterior gradient. These changes primarily affect gene expression in excitatory neurons and glia. Additionally, both rare and common ASD-associated genetic variations converge within specific co-expression modules involving synaptic signaling and protein chaperone genes.
Article
Multidisciplinary Sciences
Pan Zhang, Alicja Omanska, Bradley P. Ander, Michael J. Gandal, Boryana Stamova, Cynthia M. Schumann
Summary: Autism spectrum disorder (ASD) is a heterogeneous disorder with gene and pathway dysregulation in the brain. Transcriptomic analyses were performed on both bulk tissue and laser-capture microdissected neurons from postmortem human brains. Dysregulation of synaptic signaling, inflammation, and RNA splicing were observed in ASD. Alterations in GABA and glutamate signaling pathways were age-dependent. Moreover, dysregulation of inflammatory pathways and splicing disruption were found in ASD neurons.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2023)
Article
Neurosciences
Leanna M. Hernandez, Minsoo Kim, Cristian Hernandez, Wesley Thompson, Chun Chieh Fan, Adriana Galvan, Mirella Dapretto, Susan Y. Bookheimer, Andrew Fuligni, Michael J. Gandal
Summary: This study investigated the genetic architecture of childhood sleep problems and its association with brain development and psychiatric symptoms. The findings suggest a distinct genetic architecture underlying childhood insomnia and brain size, and a genetic overlap between childhood insomnia and attention-deficit/hyperactivity disorder symptomatology. Further research is needed to understand how genetic risk affects developmental trajectories and comorbid sleep/psychiatric symptoms during adolescence.
BIOLOGICAL PSYCHIATRY: GLOBAL OPEN SCIENCE
(2023)
