Article
Education & Educational Research
Gonzalo Lorenzo Lledo, Asuncion Lledo, Alba Gilabert-Cerda, Alejandro Lorenzo-Lledo
Summary: AR is used as a tool for learning the handwashing process in this study. The effects of AR are compared with traditional methods using a quantitative approach and experimental design. The results show improvements in areas such as eye contact and motivation for social interaction. Other studies also indicate that AR can improve reaction time. However, there are also studies that have not found improvements from AR.
EDUCATION AND INFORMATION TECHNOLOGIES
(2022)
Review
Nutrition & Dietetics
Seda Onal, Monika Sachadyn-Krol, Malgorzata Kostecka
Summary: A narrative review was conducted to determine whether nutrition and specific diets can alter gastrointestinal symptoms and neurobehavioral disorders in individuals with autism spectrum disorder (ASD). However, the review found a lack of conclusive scientific data on the effectiveness of therapeutic diets for ASD, leading to no definitive recommendations for specific nutritional therapy. An individualized dietary approach and the involvement of dieticians are important for ASD therapy.
Article
Computer Science, Hardware & Architecture
Fangyu Shi, Wei Sun, Huiyu Duan, Xiaotian Liu, Menghan Hu, Wei Wang, Guangtao Zhai
Summary: This study established an ASD painting database, analyzed the unique characteristics of paintings by children with ASD, and trained a classifier using extracted features as a potential screening tool for autism spectrum disorder.
Article
Environmental Sciences
Xin Yu, Md Mostafijur Rahman, Sarah A. Carter, Jane C. Lin, Zimin Zhuang, Ting Chow, Frederick W. Lurmann, Michael J. Kleeman, Mayra P. Martinez, Aaron van Donkelaar, Randall V. Martin, Sandrah P. Eckel, Zhanghua Chen, Pat Levitt, Joel Schwartz, Daniel Hackman, Jiu-Chiuan Chen, Rob Mcconnell, Anny H. Xiang
Summary: This study investigates the potential synergistic associations between prenatal exposure to ambient particulate matter with aerodynamic diameter < 2.5 mu m (PM2.5) and maternal immune activation (MIA)-related conditions in increasing the risk of Autism Spectrum Disorder (ASD) in children. The results show that MIA-related conditions and pregnancy PM2.5 were independently associated with ASD risk, but there were no significant interactions between them.
ENVIRONMENT INTERNATIONAL
(2023)
Article
Computer Science, Artificial Intelligence
Thomas Martial Epalle, Yuqing Song, Zhe Liu, Hu Lu
Summary: The study proposes a multi-input deep neural network model for classifying autism, which is trained on neuroimaging data preprocessed using three different reference atlases and trained using the hinge loss function. In validation experiments, the model achieves a classification accuracy of 78.07% on real data and 79.13% on augmented data, about 9% higher than previously reported results. The results highlight the importance of resting-state network connectivity differences as a discriminatory feature between individuals with autism and healthy controls.
APPLIED SOFT COMPUTING
(2021)
Article
Multidisciplinary Sciences
Sharmistha Saha, Mahasweta Chatterjee, Swagata Sinha, Kanchan Mukhopadhyay
Summary: The study for the first time identified a potential association between a missense variant in the GABRQ gene and the severity of specific symptoms in female ASD patients, warranting further investigation.
SCIENTIFIC REPORTS
(2021)
Article
Cell Biology
Frederic Ebstein, Sebastien Kuery, Victoria Most, Cory Rosenfelt, Marie-Pier Scott-Boyer, Geeske M. van Woerden, Thomas Besrard, Jonas Johannes Papendorf, Maja Studencka-Turski, Tianyun Wang, Tzung-Chien Hsieh, Richard Golnik, Dustin Baldridge, Cara Forster, Charlotte de Konink, Selina M. W. Teurlings, Virginie Vignard, Richard H. van Jaarsveld, Lesley Ades, Benjamin Cogne, Cyril Mignot, Wallid Deb, Marjolijn C. J. Jongmans, F. Sessions Cole, Marie-Jose H. van den Boogaard, Jennifer A. Wambach, Daniel J. Wegner, Sandra Yang, Vickie Hannig, Jennifer Ann Brault, Neda Zadeh, Bruce Bennetts, Boris Keren, Anne-Claire Gelineau, Zoee Powis, Meghan Towne, Kristine Bachman, Andrea Seeley, Anita E. Beck, Jennifer Morrison, Rachel Westman, Kelly Averill, Theresa Brunet, Judith Haasters, Melissa T. Carter, Matthew Osmond, Patricia G. Wheeler, Francesca Forzano, Shehla Mohammed, Yannis Trakadis, Andrea Accogli, Rachel Harrison, Yiran Guo, Hakon Hakonarson, Sophie Rondeau, Genevieve Baujat, Giulia Barcia, Rene Guenther Feichtinger, Johannes Adalbert Mayr, Martin Preisel, Frederic Laumonnier, Tilmann Kallinich, Alexej Knaus, Bertrand Isidor, Peter Krawitz, Uwe Voelker, Elke Hammer, Arnaud Droit, Evan E. Eichler, Ype Elgersma, Peter W. Hildebrand, Francois Bolduc, Elke Krueger, Stephane Bezieau
Summary: This study identified mutations in the PSMC3 gene that are associated with protein homeostasis dysfunction, leading to neurodevelopmental delay and intellectual disability. The mutations affected dendrite development in neurons and impaired learning capabilities in fruit flies, potentially through disruption of protein translocation and induction of proteotoxic stress. The findings suggest a potential link between protein homeostasis dysfunction and neurodevelopmental disorders, opening up new avenues for further research.
SCIENCE TRANSLATIONAL MEDICINE
(2023)
Article
Cell Biology
Frederic Ebstein, Sebastien Kuery, Victoria Most, Cory Rosenfelt, Marie-Pier Scott-Boyer, Geeske M. van Woerden, Thomas Besrard, Jonas Johannes Papendorf, Maja Studencka-Turski, Tianyun Wang, Tzung-Chien Hsieh, Richard Golnik, Dustin Baldridge, Cara Forster, Charlotte de Konink, Selina M. W. Teurlings, Virginie Vignard, Richard H. van Jaarsveld, Lesley Ades, Benjamin Cogne, Cyril Mignot, Wallid Deb, Marjolijn C. J. Jongmans, F. Sessions Cole, Marie-Jose H. van den Boogaard, Jennifer A. Wambach, Daniel J. Wegner, Sandra Yang, Vickie Hannig, Jennifer Ann Brault, Neda Zadeh, Bruce Bennetts, Boris Keren, Anne-Claire Gelineau, Zoee Powis, Meghan Towne, Kristine Bachman, Andrea Seeley, Anita E. Beck, Jennifer Morrison, Rachel Westman, Kelly Averill, Theresa Brunet, Judith Haasters, Melissa T. Carter, Matthew Osmond, Patricia G. Wheeler, Francesca Forzano, Shehla Mohammed, Yannis Trakadis, Andrea Accogli, Rachel Harrison, Yiran Guo, Hakon Hakonarson, Sophie Rondeau, Genevieve Baujat, Giulia Barcia, Rene Guenther Feichtinger, Johannes Adalbert Mayr, Martin Preisel, Frederic Laumonnier, Tilmann Kallinich, Alexej Knaus, Bertrand Isidor, Peter Krawitz, Uwe Voelker, Elke Hammer, Arnaud Droit, Evan E. Eichler, Ype Elgersma, Peter W. Hildebrand, Francois Bolduc, Elke Krueger, Stephane Bezieau
Summary: PSMC3 variants disrupt proteasome function and cause proteotoxic stress, leading to neurodevelopmental delay and intellectual disability.
SCIENCE TRANSLATIONAL MEDICINE
(2023)
Article
Biochemistry & Molecular Biology
Ariel M. Lyons-Warren, Michael F. Wangler, Ying-Wooi Wan
Summary: The research suggested that sensory features could be used to identify subgroups of individuals with autism spectrum disorder who share common genetic variants.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Nutrition & Dietetics
Pablo Jose Gonzalez-Domenech, Francisco Diaz-Atienza, Luis Gutierrez-Rojas, Maria Luisa Fernandez-Soto, Carmen Maria Gonzalez-Domenech
Summary: This narrative review concludes that there is insufficient scientific evidence to support a general recommendation of dietary intervention in children with ASD. Future research should focus on protocols and procedures for assessing risk and safety, as well as larger sample sizes and longer follow-up times to obtain more reliable results.
Article
Immunology
Lingling Zhang, Yiran Xu, Shuang Sun, Cailing Liang, Wenhua Li, Hongwei Li, Xiaoli Zhang, Dizhou Pang, Mengyue Li, Huihui Li, Yongbin Lang, Jiatian Liu, Shuqin Jiang, Xiaoyi Shi, Bingbing Li, Yanyan Yang, Yazhe Wang, Zhenghua Li, Chunlan Song, Guiqin Duan, Jianmei W. Leavenworth, Xiaoyang Wang, Changlian Zhu
Summary: Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with variable symptoms. This study found that children with ASD exhibited significant changes in eating and mealtime behaviors, gastrointestinal symptoms, and increased levels of gamma delta T cells in their peripheral blood. The association between gamma delta T cells, eating behaviors, and dietary factors can assist in the diagnosis of ASD.
BRAIN BEHAVIOR AND IMMUNITY
(2023)
Review
Biochemistry & Molecular Biology
Cecilia Maria Esposito, Massimiliano Buoli, Valentina Ciappolino, Carlo Agostoni, Paolo Brambilla
Summary: ASD may be associated with cholesterol and fatty acid metabolism, with a correlation between cholesterol and ASD, while the impact of fatty acids is uncertain. Metabolic biomarkers provide potential for exploring new treatment options.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Computer Science, Artificial Intelligence
Rodolfo Pavez, Jaime Diaz, Jeferson Arango-Lopez, Danay Ahumada, Carolina Mendez-Sandoval, Fernando Moreira
Summary: This article proposes the construction of an intelligent mirror using artificial intelligence techniques to assist in the treatment of children with autism spectrum disorder (ASD). The mirror uses convolutional neural networks to analyze images and recognize different emotional expressions of patients. Its effectiveness has been evaluated by specialists.
NEURAL COMPUTING & APPLICATIONS
(2023)
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
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
Psychology, Developmental
Janna Guilfoyle, Molly Winston, John Sideris, Gary E. Martin, Kritika Nayar, Lauren Bush, Tom Wassink, Molly Losh
Summary: This study investigated developmental academic profiles among clinically unaffected siblings of individuals with Autism Spectrum Disorder (ASD). The findings showed that siblings had lower performance in language-related skills, which was associated with subclinical ASD-related traits in themselves and their parents, as well as symptom severity in their sibling with ASD.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
(2023)
Article
Cell Biology
Sho Yoshimatsu, Mayutaka Nakajima, Iki Sonn, Rie Natsume, Kenji Sakimura, Ena Nakatsukasa, Toshikuni Sasaoka, Mari Nakamura, Takashi Serizawa, Tsukika Sato, Erika Sasaki, Hongkui Deng, Hideyuki Okano
Summary: This study compared the gene expression profiles of mouse, human, and common marmoset EPSCs using transcriptomic approaches. The marmoset EPSC-like cells displayed a distinct morphology but exhibited a pluripotent state similar to embryonic stem cells. They also showed interspecies chimeric contribution to mouse embryos. Furthermore, the gene expression of the marmoset EPSC-like cells resembled that of human EPSCs. Overall, this study evaluated the efficacy of the method for deriving marmoset EPSCs.
Article
Biology
Amy Cheung, Kotaro Konno, Yuka Imamura, Aya Matsui, Manabu Abe, Kenji Sakimura, Toshikuni Sasaoka, Takeshi Uemura, Masahiko Watanabe, Kensuke Futai, Nils Brose
Summary: The study reveals the involvement of Nrxn genes in the modulation of 5-HT transmission and behavior, suggesting a potential link between Nrxn mutations and ASD.
Article
Developmental Biology
Takayuki Mitsuhashi, Satoko Hattori, Kimino Fujimura, Shinsuke Shibata, Tsuyoshi Miyakawa, Takao Takahashi
Summary: Valproic acid (VPA) is an antiepileptic drug that inhibits epileptic activity of neurons mainly through sodium channel inhibition and GABA transaminase inhibition. It also inhibits histone deacetylases, leading to epigenetic modifications of stem/progenitor cell characteristics and affecting fetal development. Clinical studies have shown that VPA exposure in utero increases the risk of autistic features and intellectual disabilities in children. A study on mice revealed that in utero VPA exposure led to abnormal social interaction, cognitive changes, hypersensitivity to pain/heat, and impaired locomotor activity, resembling symptoms of autism spectrum disorder in humans.
DEVELOPMENTAL NEUROSCIENCE
(2023)
Article
Genetics & Heredity
Catherina T. Pinnaro, Chloe B. Beck, Heather J. Major, Benjamin W. Darbro
Summary: Turner syndrome (TS) is a chromosomal disorder characterized by the loss of the second sex chromosome and displays phenotypic heterogeneity. Congenital heart defects (CHD), including bicuspid aortic valve (BAV), are common in TS. Recent studies have shown the impact of X chromosome haploinsufficiency on the TS epigenome and transcriptome and suggested that genetic modifiers outside the X chromosome may influence CHD risk in TS. This study aimed to identify genetic variants associated with BAV in TS and found that rare variants in CRELD1 were significantly enriched in TS individuals with BAV.
Article
Biochemistry & Molecular Biology
Wenbin Jia, Ichiro Kawahata, An Cheng, Takuya Sasaki, Toshikuni Sasaoka, Kohji Fukunaga
Summary: We confirmed that the FABP3 inhibitor, MF1, successfully reduces nicotine-induced conditioned place preference in mice. MF1 treatment decreased CPP scores in a dose-dependent manner by inhibiting the activation of CaMKII and ERK in the nucleus accumbens and hippocampus.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Shohei Iida, Hirotaka Shoji, Fumihiro Kawakita, Takehisa Nakanishi, Yoshiaki Matsushima, Makoto Kondo, Koji Habe, Hidenori Suzuki, Tsuyoshi Miyakawa, Keiichi Yamanaka
Summary: Intense itching reduces the quality of life and is associated with psychiatric conditions. This study used a dermatitis mouse model to evaluate psychiatric symptoms and found that Lcn2 is closely associated with anxiety symptoms, but anxiety and depression caused by chronic skin inflammation may be irreversible. Active control of skin inflammation is essential for preventing anxiety.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Yasuhiro Suzuki, Chihiro Nakamoto, Izumi Watanabe-Iida, Masahiko Watanabe, Tomonori Takeuchi, Toshikuni Sasaoka, Manabu Abe, Kenji Sakimura
Summary: NMDA-type glutamate receptors (NMDARs) are composed of GluN1 and GluN2 subunits, with various combinations leading to different channel specificities. We standardized the titers of NMDAR subunit antibodies and quantified the relative protein levels of each subunit. The results showed regional and developmental differences in the composition of NMDAR subunits in the brain.
NEUROCHEMISTRY INTERNATIONAL
(2023)
Article
Cell Biology
Nanaho Fukuda, Tomoyuki Fukuda, Piergiorgio Percipalle, Kanako Oda, Nobuyuki Takei, Kevin Czaplinski, Kazushige Touhara, Yoshihiro Yoshihara, Toshikuni Sasaoka
Summary: It is found that hnRNP A/B is highly expressed in developing olfactory sensory neurons (OSNs), and its knockout leads to reduction in mature OSNs and aberrant axon targeting. hnRNP A/B is shown to bind to a group of mRNAs related to axon projections and synapse assembly. Deletion of the hnRNP A/B-recognition motif in the 3' UTR of Pcdha impairs its expression at the OSN axon terminals.
Article
Neurosciences
Hirotaka Shoji, Kazutaka Ikeda, Tsuyoshi Miyakawa
Summary: This study investigated the effects of 5-HTT deficiency on behavior, gut microbiota, and brain c-Fos expression. The findings revealed abnormal behaviors including decreased locomotor activity, reduced pain sensitivity, increased anxiety and depression-related behavior, and altered gut microbiota composition in 5-HTT-/- mice. The expression of c-Fos in certain brain regions was also different from normal. These results indicate that 5-HTT-/- mice serve as a valid animal model to study anxiety and depression.
Article
Neurosciences
Mohamed Darwish, Satoko Hattori, Hirofumi Nishizono, Tsuyoshi Miyakawa, Nozomu Yachie, Keizo Takao
Summary: GlyR alpha 4 subunit is mainly expressed in the hindbrain and midbrain of mice, and has lower expression in other regions of the brain. The expression of GlyR alpha 4 increases during brain development. Mutant mice with Glra4 deficiency show changes in startle response, social behavior, and anxiety-like behavior.
Article
Psychiatry
Hideo Hagihara, Tomoyuki Murano, Tsuyoshi Miyakawa
Summary: The study suggests that changes in brain pH, expressed as pH, are associated with various neuropsychiatric disorders. The expression patterns of pH-associated genes in these disorders were analyzed in human patients and mouse models, showing abnormal expression levels. Furthermore, astrocytes were identified as the cell type with the highest acidity-related gene expression. These findings indicate that the expression pattern of pH-associated genes may serve as a surrogate for pH changes in brain cells and provide insights into the pathophysiology of neuropsychiatric disorders.
FRONTIERS IN PSYCHIATRY
(2023)
Article
Biochemistry & Molecular Biology
Yashuang Ping, Kenji Ohata, Kenji Kikushima, Takumi Sakamoto, Ariful Islam, Lili Xu, Hengsen Zhang, Bin Chen, Jing Yan, Fumihiro Eto, Chiho Nakane, Keizo Takao, Tsuyoshi Miyakawa, Katsuya Kabashima, Miho Watanabe, Tomoaki Kahyo, Ikuko Yao, Atsuo Fukuda, Koji Ikegami, Yoshiyuki Konishi, Mitsutoshi Setou
Summary: As an important neurotransmitter, glutamate functions in the majority of excitatory synapses in the human brain. The metabolic pathway of glutamate is complex, and the exact role of glutamate pool in neurons remains unclear. This study utilized Ttll1 and Ttll7 knockout mice to investigate the impact of tubulin polyglutamylation on neuronal behavior. Matrix-assisted laser desorption/ionization (MALDI) Imaging mass spectrometry (IMS) analysis revealed increased levels of glutamate in the brains of knockout mice, suggesting that tubulin polyglutamylation by TTLLs acts as a reservoir of glutamate in neurons and modulates other glutamate-related amino acids.
Article
Neurosciences
Fabio Bigini, Soo Hyeon Lee, Young Joo Sun, Yang Sun, Vinit B. Mahajan
Summary: Gene therapy is a rapidly advancing field with the potential to transform the treatment of genetic diseases. The development of novel CRISPR systems, such as Cas12 and Cas13, has overcome limitations of previous systems and offers unique advantages. In ocular gene therapy applications, Cas12 and Cas13 have the potential to treat inflammation and cell death, as well as target various disease mechanisms. Their ability to target multiple genes simultaneously holds promise for treating ocular disorders, but further refinement is needed to ensure safety and efficacy.
