Article
Psychiatry
Morgan Steele, Mirko Uljarevic, Gaelle Rached, Thomas W. Frazier, Jennifer M. Phillips, Robin A. Libove, Robyn M. Busch, Patricia Klaas, Julian A. Martinez-Agosto, Siddharth Srivastava, Charis Eng, Mustafa Sahin, Antonio Y. Hardan
Summary: Our study compared psychiatric characteristics among children and adolescents with PTEN mutation with and without ASD, as well as ASD with macrocephaly but no PTEN mutation. We found significant group effects for broad symptom scores and specific syndrome scores, with greater behavioral symptoms in ASD groups compared to those without ASD. While there were no significant differences between PTEN-ASD and macro-ASD groups, the latter showed a trend for higher levels of aggressive behaviors.
FRONTIERS IN PSYCHIATRY
(2021)
Review
Neurosciences
Foster D. Ritchie, Sofia B. Lizarraga
Summary: Brain size is influenced by various factors during neuronal development. Mutations in histone methyltransferases that modify histone H3 are associated with neurodevelopmental disorders involving abnormal brain size. The interplay between histone modifications and the Polycomb Repressor Complex 2 may contribute to brain size abnormalities.
FRONTIERS IN NEUROSCIENCE
(2023)
Article
Genetics & Heredity
Mirko Uljarevic, Thomas W. Frazier, Gaelle Rached, Robyn M. Busch, Patricia Klaas, Siddharth Srivastava, Julian A. Martinez-Agosto, Mustafa Sahin, Charis Eng, Antonio Y. Hardan
Summary: This study provides a comprehensive characterization of distinct RRB domains in individuals with PTEN mutations. Significant group differences were found in RMB, IS, and CI scales, with the PTEN-No ASD group showing lower scores compared to PTEN-ASD and Macro-ASD groups. Despite limitations, important assessment and treatment implications were highlighted in this investigation.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2021)
Article
Genetics & Heredity
Hande Kaymakcalan, Ilyas Kaya, Nagihan Cevher Binici, Emrah Nikerel, Burcu Ozbaran, Mehmet Gorkem Aksoy, Seda Erbilgin, Gonca Ozyurt, Noor Jahan, Didem Celik, Kanay Yararbas, Leyla Yalcinkaya, Sezen Kose, Sibel Durak, Adife Gulhan Ercan-Sencicek
Summary: The study found a prevalence rate of 3.8% for PTEN mutations in patients with ASD and macrocephaly, the first of its kind in Turkey and the southeastern European region. The recommendation is to test for PTEN mutations in all patients with ASD and macrocephaly.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2021)
Article
Neurosciences
Christopher M. Endemann, Bryan M. Krause, Kirill Nourski, Matthew Banks, Barry Van Veen
Summary: Understanding how different regions of the brain interact with each other is crucial for studying its functional organization. Multivariate autoregressive (MVAR) modeling techniques offer a promising approach to identify causal links between brain regions. This study explores how including mediating variables in the model can reduce spurious causal connectivity, and how dimensionality reduction techniques can be used to estimate MVAR models from limited data. The findings demonstrate the effectiveness of using these methods to analyze high-dimensional time series data in neuroscience.
Article
Neurosciences
Luigi Balasco, Marco Pagani, Luca Pangrazzi, Gabriele Chelini, Francesca Viscido, Alessandra Georgette Ciancone Chama, Alberto Galbusera, Giovanni Provenzano, Alessandro Gozzi, Yuri Bozzi
Summary: Sensory abnormalities are common in individuals with autism spectrum disorders (ASDs). A study found that mice lacking the ASD-associated gene Cntnap2 display altered somatosensory processing and deficits related to core symptoms of ASDs. The study suggests that these mice can serve as a reliable model to study sensory abnormalities in ASDs.
NEUROBIOLOGY OF DISEASE
(2022)
Article
Computer Science, Interdisciplinary Applications
Mo Modarres, David Cochran, David N. Kennedy, Richard Schmidt, Paula Fitzpatrick, Jean A. Frazier
Summary: EEG coherence analysis is a widely used method to evaluate functional connectivity in brain networks, but the variability in study designs has made comparing findings and understanding underlying brain activity challenging. This paper presents a comprehensive hierarchical EEG coherence analysis structure that includes multiple analysis variables for computing EEG coherences.
Article
Biology
Sebastian G. W. Urchs, Angela Tam, Pierre Orban, Clara Moreau, Yassine Benhajali, Hien Duy Nguyen, Alan C. Evans, Pierre Bellec
Summary: This article explores the changes in functional brain organization in autism and uses data-driven clustering to categorize the heterogeneity of autism into subtypes, aiming to investigate behavioral symptoms and causative genetic factors. The results indicate a moderate association between functional connectivity subtypes and the clinical diagnosis of autism, and a common topography across different networks.
Review
Clinical Neurology
Sara Collorone, Michael A. A. Foster, Ahmed T. T. Toosy
Summary: Radiologically isolated syndrome is characterized by white-matter hyperintensities suggestive of multiple sclerosis in individuals without a history of clinical demyelinating episodes. It is likely the pre-symptomatic stage of multiple sclerosis but is not well understood. This mini review summarizes the current knowledge on advanced imaging techniques in radiologically isolated syndrome, which provide insights into its pathobiology and prognosis. The imaging techniques include magnetic resonance imaging-derived markers of central nervous system volumetrics, connectivity, and the central vein sign, as well as optical coherence tomography-related metrics.
FRONTIERS IN NEUROLOGY
(2023)
Article
Neurosciences
Luigi Balasco, Marco Pagani, Luca Pangrazzi, Gabriele Chelini, Alessandra Georgette Ciancone Chama, Evgenia Shlosman, Lorenzo Mattioni, Alberto Galbusera, Giuliano Iurilli, Giovanni Provenzano, Alessandro Gozzi, Yuri Bozzi
Summary: Abnormal tactile response is a common feature in Autism Spectrum Disorders (ASDs), and patients with Phelan-McDermid syndrome (PMS) also exhibit similar tactile response abnormalities. This study investigated the neural substrates involved in whisker-guided behaviors in Shank3b(-/-) mice, which showed deficits in texture discrimination and low responsiveness to repetitive whisker stimulation. Reduced activation in the primary somatosensory cortex (S1) and hippocampus was observed, suggesting impaired sensory processing. Resting-state fMRI further revealed decreased connectivity between S1 and the hippocampus, potentially impairing whisker-dependent cues recognition.
Article
Multidisciplinary Sciences
Qingsong Xie, Xiangfei Zhang, Islem Rekik, Xiaobo Chen, Ning Mao, Dinggang Shen, Feng Zhao
Summary: A novel high-order functional connectivity network framework is proposed based on the central moment feature of D-FCN, which is used for autism spectrum disorder diagnosis. Experimental results show that the combination of multiple functional connectivity networks achieves an accuracy of 88.06%, and the best single network achieves an accuracy of 79.5%.
Article
Neurosciences
Jussi Alho, John G. Samuelsson, Sheraz Khan, Fahimeh Mamashli, Hari Bharadwaj, Ainsley Losh, Nicole M. Mcguiggan, Steven Graham, Zein Nayal, Tyler K. Perrachione, Robert M. Joseph, Catherine J. Stoodley, Matti S. Hamalainen, Tal Kenet
Summary: This study investigates the impact of cerebellar differences on language processing in individuals with Autism Spectrum Disorder (ASD). Through the use of magnetoencephalography (MEG), brain activity was recorded while ASD children and typically developing children processed meaningful and meaningless sentences. The results reveal atypical functional connectivity patterns in the cerebellum of ASD children, suggesting a link between aberrant stimulus-driven attention and ASD severity.
HUMAN BRAIN MAPPING
(2023)
Article
Computer Science, Artificial Intelligence
Fangzhou Xu, Chongfeng Wang, Xin Yu, Jinzhao Zhao, Ming Liu, Jiaqi Zhao, Licai Gao, Xiuquan Jiang, Zhaoxin Zhu, Yongjian Wu, Dezheng Wang, Shanxin Feng, Sen Yin, Yang Zhang, Jiancai Leng
Summary: This study mainly investigates the changes in brain network functional connectivity in patients with neuropathic pain and without neuropathic pain after spinal cord injury. The results showed that the injury increased the functional connectivity between the frontal lobe and occipital lobes, temporal, and parietal of the patients. Furthermore, pain had a greater effect on the increased connectivity within the patients' frontal lobes. This study has great clinical significance for the neural rehabilitation and brain-computer interface of CNP patients.
INTERNATIONAL JOURNAL OF NEURAL SYSTEMS
(2023)
Editorial Material
Behavioral Sciences
Eya-Mist Rodgaard, Kristian Jensen, Kamilla Woznica Miskowiak, Laurent Mottron
Summary: Survey-based research with recruitment through online channels is a popular method in autism research, but it may result in sampling bias and limit the generalizability of the findings to the broader autism population.
Article
Quantum Science & Technology
Xin-Yu Chen, Na-Na Zhang, Wan-Ting He, Xiang-Yu Kong, Ming-Jie Tao, Fu-Guo Deng, Qing Ai, Gui-Lu Long
Summary: In a controllable experiment platform, the non-Markovian open quantum dynamics is studied from both global and local aspects. By mixing random unitary dynamics, both non-Markovian and Markovian open quantum dynamics are demonstrated. The transition from Markovianity to non-Markovianity is measured by the quantum mutual information (QMI), while the quantum Fisher information (QFI) flow is used to locally characterize the non-Markovianity in different channels.
NPJ QUANTUM INFORMATION
(2022)
Letter
Psychology, Developmental
Samantha Johnson, Helen O'Reilly, Yanyan Ni, Dieter Wolke, Neil Marlow
JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY
(2019)
Article
Clinical Neurology
Neil Marlow, Yanyan Ni, Joanne Beckmann, Helen O'Reilly, Samantha Johnson, Dieter Wolke, Joan K. Morris
PEDIATRIC NEUROLOGY
(2019)
Article
Substance Abuse
Helen O'Reilly, Aisling Hagerty, Seamus O'Donnell, Aoife Farrell, Dan Hartnett, Edel Murphy, Elizabeth Kehoe, Vincent Agyapong, Declan M. McLoughlin, Conor Farren
ALCOHOL AND ALCOHOLISM
(2019)
Letter
Biochemistry & Molecular Biology
Qing Cai, Sinead Chen, Sarah J. White, Sophie K. Scott
Article
Behavioral Sciences
Marina M. Martinos, Suresh Pujar, Helen O'Reilly, Michelle de Haan, Brian G. R. Neville, Rod C. Scott, Richard F. M. Chin
EPILEPSY & BEHAVIOR
(2019)
Article
Pediatrics
Helen O'Reilly, Samantha Johnson, Yanyan Ni, Dieter Wolke, Neil Marlow
Article
Psychology, Clinical
Yiwen Liu, Marina Mendonca, Samantha Johnson, Helen O'Reilly, Peter Bartmann, Neil Marlow, Dieter Wolke
Summary: Research on preterm populations found that exposure to trauma increases the risk of psychotic experiences, with trauma being more significant than neurodevelopmental risks. These findings support the trauma model and developmental risk factor model.
PSYCHOLOGICAL MEDICINE
(2021)
Article
Behavioral Sciences
Robert Eves, Adrian von Muhlenen, Marina Mendonca, Samantha Johnson, Helen O'Reilly, Peter Bartmann, Neil Marlow, Dieter Wolke
JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS
(2020)
Article
Psychiatry
Sarah J. White, Denise Gerber, Romina D. Sanchez Hernandez, Anthonia Efiannayi, Ishita Chowdhury, Hannah Partington, Joanna F. Moss
Summary: Research on women with the fragile-X premutation has shown that they have an increased risk for autistic traits and anxiety, which is specifically related to the presence of the premutation and not fully explained by maternal status or the stress of caring for children with neurodevelopmental disorders.
BRITISH JOURNAL OF PSYCHIATRY
(2021)
Article
Genetics & Heredity
Helen O'Reilly, Yanyan Ni, Samantha Johnson, Dieter Wolke, Neil Marlow
Summary: The study found that young adults born extremely preterm (EP) scored significantly higher on autism traits and had lower scores in emotion recognition and empathy compared to term-born controls. A larger proportion of EP survivors have subclinical difficulties associated with autism than confirmed diagnoses, with a moderate correlation between childhood autism symptom scores and autistic traits in young adulthood.
Article
Behavioral Sciences
Lucy A. Livingston, Punit Shah, Sarah J. White, Francesca Happe
Summary: The study reports the development of a web-based version of the Frith-Happe Animations Test for autistic and neurotypical adults. Results demonstrate that the test can successfully be administered online to autistic adults, who showed Theory of Mind (ToM) difficulties compared to neurotypical adults, replicating previous findings.
Article
Education, Special
Joseph Mintz, Sarah Seleznyov, Nick Peacey, Chris Brown, Sarah White
Summary: Research learning communities (RLCs) are a popular form of professional development that engages participants with research evidence and empowers them to become researchers. In this study, the RLC model was used to make research about autism and school system change accessible to primary school teachers, leading to improvements in special education policy and practice.
SUPPORT FOR LEARNING
(2021)
Review
Psychology, Developmental
Clodagh Cogley, Helen O'Reilly, Jessica Bramham, Michelle Downes
Summary: Preterm birth is associated with an increased risk for autism spectrum disorder, with male sex, being born small for gestational age, and general cognitive impairment identified as the most robust findings in at least two studies. Comparisons across studies were limited by variation in risk factor measurement and gestational age ranges investigated.
CHILD PSYCHIATRY & HUMAN DEVELOPMENT
(2021)
Article
Psychology, Mathematical
Amandine Lassalle, Delia Pigat, Helen O'Reilly, Steve Berggen, Shimrit Fridenson-Hayo, Shahar Tal, Sigrid Elfstrom, Anna Rade, Ofer Golan, Sven Boelte, Simon Baron-Cohen, Daniel Lundqvist
BEHAVIOR RESEARCH METHODS
(2019)
Article
Pediatrics
Louise Linsell, Samantha Johnson, Dieter Wolke, Helen O'Reilly, Joan K. Morris, Jennifer J. Kurinczuk, Neil Marlow
ARCHIVES OF DISEASE IN CHILDHOOD
(2018)
