NEUROSCIENCE OF DIVERSITY
NDIVS Research and Education seeks to include information and research from many disciplines, thereby accelerating the understanding and acceptance of neurodivergence worldwide.
THE NEUROSCIENCE OF DIVERSITY
Coming soon on this topic: A survey of 2022-2024 research.
Featured Article by Hagar Goldberg
Dr. Hagar Goldberg
Neurodiversity is a concept and a social movement that addresses and normalizes human neurocognitive heterogeneity to promote acceptance and inclusion of neuro-minorities (e.g., learning disabilities, attention disorders, psychiatric disorders, and more) in contemporary society. Neurodiversity is attributed to nature and nurture factors, and about a fifth of the human population is considered neurodivergent. What does neurodiversity mean neuroscientifically? This question forms the foundation of the present entry, which focuses on existing scientific evidence on neurodiversity including neurodiversity between and within individuals, and the evolutional perspective of neurodiversity. Furthermore, the neuroscientific view will be synergistically integrated with social approaches, particularly in the context of the normalization of neurodiversity and its association with the medical and social models of disability. This multidimensional analysis offers a cohesive and comprehensive understanding of neurodiversity, drawing insights from various vantage points, such as social, psychological, clinical, and neuroscientific viewpoints. This integrated approach fosters a nuanced and holistic discussion on the topic of human diversity. Continue reading
Article Info
Unraveling Neurodiversity: Insights from Neuroscientific Perspectives
in Encyclopedia 2023, 3, 972–980. https://doi.org/10.3390/encyclopedia3030070
Hagar Goldberg
Department of Psychology, University of British Columbia, Vancouver, BC V6T 1Z4, Canada; hagar.goldberg@ubc.ca
NEUROBIOLOGY
Coming soon on this topic: A survey of 2022-2024 research.
Featured Article by Imke A. J. van Kooten
Dr. Imke A. J. van Kooten
Abnormalities in face perception are a core feature of social disabilities in autism. Recent functional magnetic resonance imaging studies showed that patients with autism could perform face perception tasks. However, the fusiform gyrus (FG) and other cortical regions supporting face processing in controls are hypoactive in patients with autism. The neurobiological basis of this phenomenon is unknown. Here, we tested the hypothesis that the FG shows neuropathological alterations in autism, namely alterations in neuron density, total neuron number and mean perikaryal volume. We investigated the FG (analysing separately layers II, III, IV,V and VI), in seven post-mortem brains from patients with autism and 10 controls for volume, neuron density, total neuron number and mean perikaryal volume with high-precision design-based stereology. To determine whether these results were specific for the FG, the same analyses were also performed in the primary visual cortex and in the cortical grey matter as a whole. Compared to controls, patients with autism showed significant reductions in neuron densities in layer III, total neuron numbers in layers III, V and VI, and mean perikaryal volumes of neurons in layers V and VI in the FG. None of these alterations were found in the primary visual cortex or in the whole cerebral cortex. Although based on a relatively small sample of post-mortem brains from patients with autism and controls, the results of the present study may provide important insight about the cellular basis of abnormalities in face perception in autism. Continue reading
Article Info
Neurons in the fusiform gyrus are fewer and smaller in autism
in Brain (2008), 131, 987^999 doi:10.1093/brain/awn033
Imke A. J. van Kooten,1,2,3; Saskia J. M. C. Palmen,3; Patricia von Cappeln,4; Harry W. M. Steinbusch,1,2; Hubert Korr,4; Helmut Heinsen,5; Patrick R. Hof,6; Herman van Engeland,3; and Christoph Schmitz 1,2.
1 Department of Psychiatry and Neuropsychology, Maastricht University,
2 European Graduate School of Neuroscience (EURON), Maastricht,
3 Rudolph Magnus Institute of Neuroscience, Department of Child and Adolescent Psychiatry, University Medical Center Utrecht, The Netherlands 4 Department of Anatomy and Cell Biology, RWTH Aachen University, Aachen
5 Morphological Brain Research Unit, University of Wuerzburg, Wuerzburg, Germany
6 Department of Neuroscience, Mount Sinai School of Medicine, New York, NY, USA
NEUROPHYSIOLOGY
Coming soon on this topic: A survey of 2022-2024 research.
Featured Article by Anne-Laure Le Cunff
Dr. Anne-Laure Le Cunff
Working memory is integral to a range of critical cognitive functions such as reasoning and decision-making. Although alterations in working memory have been observed in neurodivergent populations, there has been no review mapping how cognitive load is measured in common neurodevelopmental conditions such as attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder (ASD) and dyslexia. This scoping review explores the neurophysiological measures used to study cognitive load in these specific populations. Our findings highlight that electroencephalography (EEG) and functional magnetic resonance imaging (fMRI) are the most frequently used methods, with a limited number of studies employing functional near-infrared spectroscopy (fNIRs), magnetoencephalography (MEG) or eye-tracking. Notably, eye-related measures are less commonly used, despite their prominence in cognitive load research among neurotypical individuals. The review also highlights potential correlates of cognitive load, such as neural oscillations in the theta and alpha ranges for EEG studies, blood oxygenation level-dependent (BOLD) responses in lateral and medial frontal brain regions for fMRI and fNIRs studies and eye-related measures such as pupil dilation and blink rate. Continue reading
Article Info
Neurophysiological measures and correlates of cognitive load in attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder (ASD) and dyslexia: A scoping review and research recommendations
in Eur J Neurosci. 2024;59:256–282. DOI: 10.1111/ejn.16201
Anne-Laure Le Cunff | Eleanor Dommett | Vincent Giampietro
Institute of Psychiatry, Psychology & Neuroscience, King’s College London, London, UK
NEUROIMAGING
Coming soon on this topic: A survey of 2022-2024 research.
Featured Article by Christine Ecker et al.
Dr. Christine Ecker
Autism spectrum disorder (ASD) is a neurodevelopmental condition with multiple causes, comorbid conditions, and a wide range in the type and severity of symptoms expressed by different individuals. This makes the neuroanatomy of autism inherently difficult to describe. Here, we demonstrate how a multiparameter classification approach can be used to characterize the complex and subtle structural pattern of gray matter anatomy implicated in adults with ASD, and to reveal spatially distributed patterns of discriminating regions for a variety of parameters describing brain anatomy. A set of five morphological parameters including volumetric and geometric features at each spatial location on the cortical surface was used to discriminate between people with ASD and controls using a support vector machine (SVM) analytic approach, and to find a spatially distributed pattern of regions with maximal classification weights. On the basis of these patterns, SVM was able to identify individuals with ASD at a sensitivity and specificity of up to 90% and 80%, respectively. However, the ability of individual cortical features to discriminate between groups was highly variable, and the discriminating patterns of regions varied across parameters. The classification was specific to ASD rather than neurodevelopmental conditions in general (e.g., attention deficit hyperactivity disorder). Our results confirm the hypothesis that the neuroanatomy of autism is truly multidimensional, and affects multiple and most likely independent cortical features. The spatial patterns detected using SVM may help further exploration of the specific genetic and neuropathological underpinnings of ASD, and provide new insights into the most likely multifactorial etiology of the condition. Continue reading
Article Info
Describing the Brain in Autism in Five Dimensions—Magnetic Resonance Imaging-Assisted Diagnosis of Autism Spectrum Disorder Using a Multiparameter Classification Approach
in The Journal of Neuroscience, August 11, 2010 • 30(32):10612–10623
Christine Ecker,1; Andre Marquand,2; Janaina Mourão-Miranda,3,4; Patrick Johnston,1; Eileen M. Daly,1; Michael J. Brammer,2; Stefanos Maltezos,1; Clodagh M. Murphy,1; Dene Robertson,1; Steven C. Williams,3; and Declan G. M. Murphy,1.
1 Section of Brain Maturation, Department of Psychological Medicine, Institute of Psychiatry, King’s College, London
2 Brain Image Analysis Unit, Department of Biostatistics, Institute of Psychiatry, King’s College, London
3 Centre for Neuroimaging Sciences, Institute of Psychiatry, King’s College, London SE5 8AF, United Kingdom
4 Centre for Computational Statistics and Machine Learning, Department of Computer Science, University College London, London WC1E 6BT, United Kingdom
NEUROPATHOLOGY
Coming soon on this topic: A survey of 2022-2024 research.
Featured Article by Saskia J. M. C. Palmen
Dr. Saskia J. M. C. Palmen
Autism is currently viewed as a largely genetically determined neurodevelopmental disorder, although its underlying biological causes remain to be established. In this review, we examine the available neuropathological literature on autism and discuss the findings that have emerged. Classic neuropathological observations are rather consistent with respect to the limbic system (nine of 14 studied cases showed increased cell packing density and smaller neuronal size), the cerebellum (21 of 29 studied cases showed a decreased number of Purkinje cells, and in all of five cases that were examined for age related morphological alterations, these changes were found in cerebellar nuclei and inferior olive) and the cerebral cortex (>50% of the studied cases showed features of cortical dysgenesis). However, all reported studies had to contend with the problem of small sample sizes, the use of quantification techniques not free of bias and assumptions, and high percentages of autistic subjects with comorbid mental retardation (at least 70%) or epilepsy (at least 40%). Furthermore, data from the limbic system and on age-related changes lack replication by independent groups. It is anticipated that future neuropathological studies hold great promise, especially as new techniques such as design based stereology and gene expression are increasingly implemented and combined, larger samples are analysed, and younger subjects free of comorbidities are investigated. Continue reading
Article Info
Neuropathological findings in autism
in Brain (2004), 127, 2572–2583 doi:10.1093/brain/awh287
Saskia J. M. C. Palmen, 1,2,4; Herman van Engeland, 1; Patrick R. Hof, 5; and Christoph Schmitz, 2,3.
1 Rudolf Magnus Institute of Neuroscience, Department of Child and Adolescent Psychiatry, University Medical Center Utrecht, Utrecht,
2 European Graduate School of Neuroscience (EURON)
3 Department of Psychiatry and Neuropsychology, Division of Cellular Neuroscience, University of Maastricht, Maastricht, The Netherlands
4 Department of Anatomy and Cell Biology, RWTH Aachen University, Aachen, Germany
5 Department of Neuroscience and Department of Geriatrics and Adult Development, Mount Sinai School of Medicine, New York, NY, USA
NEUROCHEMISTRY
Coming soon on this topic: A survey of 2022-2024 research.
Featured Article by Rosa Marotta
Dr. Rosa Marotta
Autism spectrum disorder (ASD) refers to complex neurobehavioral and neurodevelopmental conditions characterized by impaired social interaction and communication, restricted and repetitive patterns of behavior or interests, and altered sensory processing. Environmental, immunological, genetic, and epigenetic factors are implicated in the pathophysiology of autism and provoke the occurrence of neuroanatomical and neurochemical events relatively early in the development of the central nervous system. Many neurochemical pathways are involved in determining ASD; however, how these complex networks interact and cause the onset of the core symptoms of autism remains unclear. Further studies on neurochemical alterations in autism are necessary to clarify the early neurodevelopmental variations behind the enormous heterogeneity of autism spectrum disorder, and therefore lead to new approaches for the treatment and prevention of autism. In this review, we aim to delineate the state-of-the-art main research findings about the neurochemical alterations in autism etiology, and focuses on gamma aminobutyric acid (GABA) and glutamate, serotonin, dopamine, N-acetyl aspartate, oxytocin and arginine-vasopressin, melatonin, vitamin D, orexin, endogenous opioids, and acetylcholine. We also aim to suggest a possible related therapeutic approach that could improve the quality of ASD interventions. Continue reading
Article Info
The Neurochemistry of Autism
in Brain Sci. 2020, 10, 163; doi:10.3390/brainsci10030163
Rosa Marotta 1; Maria C. Risoleo 1,2; Giovanni Messina 3; Lucia Parisi 4,y; Marco Carotenuto 2,y; Luigi Vetri 5; and Michele Roccella 4,y.
1 Department of Medical and Surgical Sciences, University “Magna Graecia”, Catanzaro 88100, Italy
2 Clinic of Child and Adolescent Neuropsychiatry, Department of Mental Health, Physical and Preventive Medicine, University of Campania “Luigi Vanvitelli”, Napoli 80138, Italy
3 Department of Clinical and Experimental Medicine, University of Foggia, Foggia 71100, Italy
4 Department of Psychology, Educational and Science and Human Movement, University of Palermo, Palermo 90128, Italy
5 Department of Sciences for Health Promotion and Mother and Child Care “G. D’Alessandro”, University of Palermo, Palermo 90127, Italy
y Interuniversity group for study and research on Neurodevelopmental Disorders in Children and Adolescents
NEUROGENETICS
Coming soon on this topic: A survey of 2022-2024 research.
Featured Article by Matilde Cirnigliaro
Dr. Matilde Cirnigliaro
Autism spectrum disorder (ASD) has a complex genetic architecture involving contributions from both de novo and inherited variation. Few studies have been designed to address the role of rare inherited variation or its interaction with common polygenic risk in ASD. Here, we performed whole-genome sequencing of the largest cohort of multiplex families to date, consisting of 4,551 individuals in 1,004 families having two or more autistic children. Using this study design, we identify seven previously unrecognized ASD risk genes supported by a majority of rare inherited variants, finding support for a total of 74 genes in our cohort and a total of 152 genes after combined analysis with other studies. Autistic children from multiplex families demonstrate an increased burden of rare inherited protein-truncating variants in known ASD risk genes. We also find that ASD polygenic score (PGS) is over transmitted from nonautistic parents to autistic children who also harbor rare inherited variants, consistent with combinatorial effects in the offspring, which may explain the reduced penetrance of these rare variants in parents. We also observe that in addition to social dysfunction, language delay is associated with ASD PGS over transmission. These results are consistent with an additive complex genetic risk architecture of ASD involving rare and common variation and further suggest that language delay is a core biological feature of ASD. Continue reading
Article Info
The contributions of rare inherited and polygenic risk to ASD in multiplex families
in PNAS 2023 Vol. 120 No. 31 https://doi.org/10.1073/pnas.2215632120
Matilde Cirnigliaro et al.
Edited by Evan Eichler, University of Washington, Seattle, WA; received September 15, 2022; accepted June 13, 2023