Article
Genetics & Heredity
Eliane Chouery, Jana Makhlouf, Wassim Daoud Khatoun, Cybel Mehawej, Andre Megarbane
Summary: Autism spectrum disorder (ASD) is a complex developmental disability with a genetic heterogeneity. Whole-exome sequencing revealed hemizygous variants in PCDH19 in two males with autism without epilepsy, suggesting a potential involvement of PCDH19 in autism.
Article
Endocrinology & Metabolism
Saijun Huang, Jiaying Zeng, Ruoyu Sun, Hong Yu, Haimou Zhang, Xi Su, Paul Yao
Summary: Prenatal exposure to progestin causes oxytocin suppression, leading to social deficits in mouse offspring.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Psychiatry
Kazuya Matsuo, Yasuharu Shinoda, Nona Abolhassani, Yusaku Nakabeppu, Kohji Fukunaga
Summary: This study explored molecular alterations in the hippocampus of rats with autism spectrum disorder (ASD) and the effects of chronic administration of intranasal oxytocin (OXT). The results revealed that prenatal valproic acid (VPA) exposure altered gene expression in the hippocampus, with some of these genes suggested as candidates for ASD and involved in memory, developmental processes, and epilepsy. OXT treatment partly improved the expression of these genes, which interacted with genes involved in social behaviors and hippocampal-dependent memory.
FRONTIERS IN PSYCHIATRY
(2022)
Article
Psychiatry
Yulia A. A. Pichugina, Irina V. V. Maksimova, Marina A. A. Berezovskaya, Natalya A. A. Afanaseva, Aleksey B. B. Pichugin, Diana V. V. Dmitrenko, Elena E. E. Timechko, Alla B. B. Salmina, Olga L. L. Lopatina
Summary: The study found a direct correlation between salivary OT levels and the severity of ASD, with patients in the ID group with ASD showing lower levels of OT concentration.
FRONTIERS IN PSYCHIATRY
(2022)
Article
Biochemistry & Molecular Biology
Shelly A. Buffington, Sean W. Dooling, Martina Sgritta, Cecilia Noecker, Oscar D. Murillo, Daniela F. Felice, Peter J. Turnbaugh, Mauro Costa-Mattioli
Summary: The core symptoms of many neurological disorders are thought to be caused by genetic variants affecting brain development and function. However, this study found that maladaptive behaviors may be interdependently regulated by the host genes and the microbiome. By selectively intervening with the microbiome, specific behavioral deficits can be rescued, which may change our understanding of neurological disorders.
Article
Multidisciplinary Sciences
Orna Reichman, Misgav Rottenstreich, Hen Sela, Rachel Michaelson-Cohen, Zvi Ehrlich, Reut Rotem, Sorina Grisaru-Granovsky
Summary: The study aimed to identify risk factors for complicated maternal cesarean delivery (CD) in women undergoing a repeat low-order CD and to develop a predictive model for at-risk women. The results showed that a complicated CD2, Sub-Saharan African origin, and preterm delivery were risk factors for complications in CD3. However, it is difficult to predict which specific women will experience these complications. The sensitivity, specificity, positive predictive value, and negative predictive value of a complicated CD2 for detecting complications in CD3 were 21%, 90%, 30%, and 85%, respectively.
Article
Biochemistry & Molecular Biology
Magdalena Meyer, Benjamin Jurek, Mercedes Alfonso-Prieto, Rui Ribeiro, Vladimir M. Milenkovic, Julia Winter, Petra Hoffmann, Christian H. Wetzel, Alejandro Giorgetti, Paolo Carloni, Inga D. Neumann
Summary: This study reveals the cellular mechanism linking the oxytocin receptor gene mutation (OXTR rs4686302 SNP) with genetic dysregulations associated with autism spectrum disorder (ASD). The mutation leads to increased OXTR protein stability, changes in Ca2+ dynamics, and reduced activation of the MAPK pathway. Whole-genome and RNA sequencing analysis showed numerous differentially regulated genes in the mutant cells, including 429 genes associated with ASD. Computational modeling suggested that the OXTR mutation affects downstream events by altering receptor activation and signaling, consistent with the in vitro results.
MOLECULAR PSYCHIATRY
(2022)
Review
Pharmacology & Pharmacy
Daniel Martins, Maria Paduraru, Yannis Paloyelis
Summary: The repeated administration of intranasal oxytocin does not significantly improve most core symptoms of schizophrenia and ASD, with only a small effect observed on general symptoms of schizophrenia. Moderator effects were found for dose, percentage of men, and treatment duration in different symptom dimensions of schizophrenia. Heterogeneity was observed in the response of schizophrenia negative symptoms to intranasal oxytocin compared to placebo, indicating the existence of responsive and non-responsive subgroups of patients.
BRITISH JOURNAL OF PHARMACOLOGY
(2022)
Article
Neurosciences
Jianbo Liu, Yujie Liang, Xing Jiang, Jianchang Xu, Yumeng Sun, Zichen Wang, Ling Lin, Yanbin Niu, Shiqi Song, Huawei Zhang, Zhenpeng Xue, Jianping Lu, Paul Yao
Summary: The study found that hyperglycemia induces OXTR suppression, which persists during subsequent normoglycemia. Maternal diabetes can lead to OXTR suppression, and OXTR deficiency can mimic and potentiate anxiety-like behaviors induced by maternal diabetes.
FRONTIERS IN NEUROSCIENCE
(2021)
Article
Multidisciplinary Sciences
Ralda Nehme, Olli Pietilainen, Mykyta Artomov, Matthew Tegtmeyer, Vera Valakh, Leevi Lehtonen, Christina Bell, Tarjinder Singh, Aditi Trehan, John Sherwood, Danielle Manning, Emily Peirent, Rhea Malik, Ellen J. Guss, Derek Hawes, Amanda Beccard, Anne M. Bara, Dane Z. Hazelbaker, Emanuela Zuccaro, Giulio Genovese, Alexander A. Loboda, Anna Neumann, Christina Lilliehook, Outi Kuismin, Eija Hamalainen, Mitja Kurki, Christina M. Hultman, Anna K. Kahler, Joao A. Paulo, Andrea Ganna, Jon Madison, Bruce Cohen, Donna McPhie, Rolf Adolfsson, Roy Perlis, Ricardo Dolmetsch, Samouil Farhi, Steven McCarroll, Steven Hyman, Ben Neale, Lindy E. Barrett, Wade Harper, Aarno Palotie, Mark Daly, Kevin Eggan
Summary: The mechanism by which the 22q11.2 deletion predisposes to psychiatric disease is not well understood. In this study, the authors investigated human neuronal cells and found that the deletion regulates the expression of genes associated with autism, schizophrenia, and synaptic biology. Using induced pluripotent stem cells and CRISPR/Cas9 technology, the researchers found that the deletion alters the abundance of transcripts associated with neurodevelopmental disorders during differentiation into neural progenitor cells. Furthermore, the altered transcripts in excitatory neurons were found to encode presynaptic factors and were associated with genetic risk for schizophrenia.
NATURE COMMUNICATIONS
(2022)
Article
Psychology, Developmental
Magdalena del Rio, Chris Racey, Zhiting Ren, Jiang Qiu, Hao-Ting Wang, Jamie Ward
Summary: This study investigates individual differences in cortical organization related to autistic-like traits and finds a principal gradient reflecting the transition from perception to abstract cognition. The expansion of this gradient is correlated with subjective sensory sensitivity, indicating that sensory issues can be disentangled from the wider autistic-like phenotype.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
(2022)
Article
Psychology, Developmental
Melissa H. H. Black, Dana L. L. Greenwood, Jerome Choo Chen Hwa, Jacqueline Pivac, Jessica Tang, Patrick J. F. Clarke
Summary: Autistic adults commonly experience higher levels of worry than non-autistic adults, impacting their daily life activities, sleep, and mental health. The content and extent of worry in autistic adults were found to be clinically significant, with negative thoughts forming a cycle of worry for them. This study highlights the importance of understanding and addressing anxiety in autistic adults.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
(2023)
Article
Psychology, Developmental
Jonathan Cantor, Ryan K. McBain, Aaron Kofner, Bradley D. Stein, Hao Yu
Summary: Despite the rise in observed prevalence of autism spectrum disorder, only half of outpatient mental health treatment facilities offer care for children with autism spectrum disorder. Rural and lower socioeconomic status counties are less likely to have facilities providing care for this population.
Article
Psychology, Developmental
Birkan Tunc, Juhi Pandey, Tanya St. John, Shoba S. Meera, Jennifer E. Maldarelli, Lonnie Zwaigenbaum, Heather C. Hazlett, Stephen R. Dager, Kelly N. Botteron, Jessica B. Girault, Robert C. McKinstry, Ragini Verma, Jed T. Elison, John R. Pruett, Joseph Piven, Annette M. Estes, Robert T. Schultz
Summary: The study suggests that children with high ASD risk who experience diagnostic shifts between 24 and 36 months often exhibit intermediate phenotypic profiles and are closer to the classification boundary between ASD and non-ASD. The results highlight the need for increased surveillance and intervention strategies for young children with intermediate phenotypes, as they may have a higher susceptibility to changes in diagnosis at later ages.
JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY
(2021)
Article
Medicine, General & Internal
Anders Pretzmann Mikkelsen, Iben Katinka Greiber, Nikolai Madrid Scheller, Ojvind Lidegaard
Summary: A nationwide retrospective cohort study in Denmark found no significant association between maternal exposure to epidural analgesia during labor and autism spectrum disorder in offspring.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
(2021)
Article
Biotechnology & Applied Microbiology
Laura Altieri, Cristina Neri, Roberto Sacco, Paolo Curatolo, Arianna Benvenuto, Filippo Muratori, Elisa Santocchi, Carmela Bravaccio, Carlo Lenti, Monica Saccani, Roberto Rigardetto, Marina Gandione, Andrea Urbani, Antonio M. Persico
Review
Clinical Neurology
Arianna Benvenuto, Barbara Battan, Maria Cristina Porfirio, Paolo Curatolo
BRAIN & DEVELOPMENT
(2013)
Article
Biochemical Research Methods
Paola Prandini, Chiara Zusi, Giovanni Malerba, Pier Franco Pignatti, Elisabetta Trabetti
MOLECULAR AND CELLULAR PROBES
(2014)
Article
Genetics & Heredity
Paola Prandini, Alessandra Pasquali, Giovanni Malerba, Andrea Marostica, Chiara Zusi, Luciano Xumerle, Pierandrea Muglia, Lucio Da Ros, Emiliangelo Ratti, Elisabetta Trabetti, Pier Franco Pignatti
PSYCHIATRIC GENETICS
(2012)
Review
Pediatrics
Arianna Benvenuto, Romina Moavero, Riccardo Alessandrelli, Barbara Manzi, Paolo Curatolo
WORLD JOURNAL OF PEDIATRICS
(2009)
Article
Clinical Neurology
Arianna Benvenuto, Barbara Battan, Francesca Benassi, Leonardo Emberti Gialloreti, Paolo Curatolo
DEVELOPMENTAL NEUROREHABILITATION
(2016)
Article
Education, Special
Kristin Strauss, Arianna Benvenuto, Barbara Battan, Martina Siracusano, Monica Terribili, Paolo Curatolo, Leonardo Fava
RESEARCH IN DEVELOPMENTAL DISABILITIES
(2015)
Article
Pediatrics
A. Benvenuto, S. Marciano, I. Capuano, P. Curatolo
MINERVA PEDIATRICA
(2013)
Review
Education, Special
Adriana Lo-Castro, Arianna Benvenuto, Cinzia Galasso, Cristina Porfirio, Paolo Curatolo
RESEARCH IN AUTISM SPECTRUM DISORDERS
(2010)
Article
Medicine, Research & Experimental
Tong Cheng, Zhusheng Chen, Yibin Qin, Xiang Zhu, Hongsheng Chen, Zhongling Xu, Xiaqing Ma
Summary: Morphine is commonly used and effective for pain relief, but its side effect of itching limits its clinical use. This paper discusses the potential of using esketamine to treat morphine-induced itching.
MEDICAL HYPOTHESES
(2024)
Article
Medicine, Research & Experimental
Sung Eun Lee, Eunjung Park, Ji-yun Kim, HyukHoon Kim
Summary: Hyperbaric oxygen therapy (HBOT) is a potential therapeutic modality that has been recognized for its favorable mechanisms in various diseases, including sepsis-associated encephalopathy (SAE). HBOT has neuroprotective effects through its anti-inflammatory and antiapoptotic effects as well as increased tissue oxygenation capacity. However, there are caveats and limitations in applying HBOT in sepsis.
MEDICAL HYPOTHESES
(2024)