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Autistic Disorder: HELP
Articles from Pittsburgh
Based on 88 articles published since 2008
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These are the 88 published articles about Autistic Disorder that originated from Pittsburgh during 2008-2019.
 
+ Citations + Abstracts
Pages: 1 · 2 · 3 · 4
1 Review Vision as a Beachhead. 2017

Heeger, David J / Behrmann, Marlene / Dinstein, Ilan. ·Department of Psychology and Center for Neural Science, New York University, New York, New York. Electronic address: david.heeger@nyu.edu. · Department of Psychology and Center for the Neural Basis of Cognition, Carnegie Mellon University, Pittsburgh, Pennsylvania. · Psychology Department, Ben-Gurion University of the Negev, Beer-Sheva, Israel. ·Biol Psychiatry · Pubmed #27884424.

ABSTRACT: When neural circuits develop abnormally due to different genetic deficits and/or environmental insults, neural computations and the behaviors that rely on them are altered. Computational theories that relate neural circuits with specific quantifiable behavioral and physiological phenomena, therefore, serve as extremely useful tools for elucidating the neuropathological mechanisms that underlie different disorders. The visual system is particularly well suited for characterizing differences in neural computations; computational theories of vision are well established, and empirical protocols for measuring the parameters of those theories are well developed. In this article, we examine how psychophysical and neuroimaging measurements from human subjects are being used to test hypotheses about abnormal neural computations in autism, with an emphasis on hypotheses regarding potential excitation/inhibition imbalances. We discuss the complexity of relating specific computational abnormalities to particular underlying mechanisms given the diversity of neural circuits that can generate the same computation, and we discuss areas of research in which computational theories need to be further developed to provide useful frameworks for interpreting existing results. A final emphasis is placed on the need to extend existing ideas into developmental frameworks that take into account the dramatic developmental changes in neurophysiology (e.g., changes in excitation/inhibition balance) that take place during the first years of life, when autism initially emerges.

2 Review Sleep and mental disorders: A meta-analysis of polysomnographic research. 2016

Baglioni, Chiara / Nanovska, Svetoslava / Regen, Wolfram / Spiegelhalder, Kai / Feige, Bernd / Nissen, Christoph / Reynolds, Charles F / Riemann, Dieter. ·Department of Clinical Psychology and Psychophysiology. · Western Psychiatric Institute and Clinic, University of Pittsburgh. ·Psychol Bull · Pubmed #27416139.

ABSTRACT: Investigating sleep in mental disorders has the potential to reveal both disorder-specific and transdiagnostic psychophysiological mechanisms. This meta-analysis aimed at determining the polysomnographic (PSG) characteristics of several mental disorders. Relevant studies were searched through standard strategies. Controlled PSG studies evaluating sleep in affective, anxiety, eating, pervasive developmental, borderline and antisocial personality disorders, attention-deficit-hyperactivity disorder (ADHD), and schizophrenia were included. PSG variables of sleep continuity, depth, and architecture, as well as rapid-eye movement (REM) sleep were considered. Calculations were performed with the "Comprehensive Meta-Analysis" and "R" software. Using random effects modeling, for each disorder and each variable, a separate meta-analysis was conducted if at least 3 studies were available for calculation of effect sizes as standardized means (Hedges' g). Sources of variability, that is, sex, age, and mental disorders comorbidity, were evaluated in subgroup analyses. Sleep alterations were evidenced in all disorders, with the exception of ADHD and seasonal affective disorders. Sleep continuity problems were observed in most mental disorders. Sleep depth and REM pressure alterations were associated with affective, anxiety, autism and schizophrenia disorders. Comorbidity was associated with enhanced REM sleep pressure and more inhibition of sleep depth. No sleep parameter was exclusively altered in 1 condition; however, no 2 conditions shared the same PSG profile. Sleep continuity disturbances imply a transdiagnostic imbalance in the arousal system likely representing a basic dimension of mental health. Sleep depth and REM variables might play a key role in psychiatric comorbidity processes. Constellations of sleep alterations may define distinct disorders better than alterations in 1 single variable. (PsycINFO Database Record

3 Review Emerging roles of Na⁺/H⁺ exchangers in epilepsy and developmental brain disorders. 2016

Zhao, Hanshu / Carney, Karen E / Falgoust, Lindsay / Pan, Jullie W / Sun, Dandan / Zhang, Zhongling. ·Department of Neurology, The First Affiliated Hospital of the Harbin Medical University, Harbin, China. · Department of Neurology, University of Pittsburgh, Pittsburgh, PA 15213, USA. · Veterans Affairs Pittsburgh Health Care System, Geriatric Research, Educational and Clinical Center, Pittsburgh, PA 15213, USA. ·Prog Neurobiol · Pubmed #26965387.

ABSTRACT: Epilepsy is a common central nervous system (CNS) disease characterized by recurrent transient neurological events occurring due to abnormally excessive or synchronous neuronal activity in the brain. The CNS is affected by systemic acid-base disorders, and epileptic seizures are sensitive indicators of underlying imbalances in cellular pH regulation. Na(+)/H(+) exchangers (NHEs) are a family of membrane transporter proteins actively involved in regulating intracellular and organellar pH by extruding H(+) in exchange for Na(+) influx. Altering NHE function significantly influences neuronal excitability and plays a role in epilepsy. This review gives an overview of pH regulatory mechanisms in the brain with a special focus on the NHE family and the relationship between epilepsy and dysfunction of NHE isoforms. We first discuss how cells translocate acids and bases across the membrane and establish pH homeostasis as a result of the concerted effort of enzymes and ion transporters. We focus on the specific roles of the NHE family by detailing how the loss of NHE1 in two NHE mutant mice results in enhanced neuronal excitability in these animals. Furthermore, we highlight new findings on the link between mutations of NHE6 and NHE9 and developmental brain disorders including epilepsy, autism, and attention deficit hyperactivity disorder (ADHD). These studies demonstrate the importance of NHE proteins in maintaining H(+) homeostasis and their intricate roles in the regulation of neuronal function. A better understanding of the mechanisms underlying NHE1, 6, and 9 dysfunctions in epilepsy formation may advance the development of new epilepsy treatment strategies.

4 Review Neural variability: friend or foe? 2015

Dinstein, Ilan / Heeger, David J / Behrmann, Marlene. ·Department of Psychology, Ben Gurion University, PO Box 653, Beer Sheva 84105, Israel. Electronic address: dinshi@bgu.ac.il. · Department of Psychology and Center for Neural Science, New York University, 6 Washington Place, New York, NY 10003, USA. · Department of Psychology, Carnegie Mellon University, 5000 Forbes Avenue, Pittsburgh, PA 15213, USA. ·Trends Cogn Sci · Pubmed #25979849.

ABSTRACT: Although we may not realize it, our brain function varies markedly from moment to moment such that our brain responses exhibit substantial variability across trials even in response to a simple repeating stimulus. Should we care about such within-subject variability? Are there developmental, cognitive, and clinical consequences to having a brain that is more or less variable/noisy? Although neural variability seems to be beneficial for learning, excessive levels of neural variability are apparent in individuals with different clinical disorders. We propose that measuring distinct types of neural variability in autism and other disorders is likely to reveal crucial insights regarding their neuropathology. We further discuss the importance of studying neural variability more generally across development and aging in humans.

5 Review Children with autism in the People's Republic of China: diagnosis, legal issues, and educational services. 2013

Huang, Ann X / Jia, Meixiang / Wheeler, John J. ·Department of Counseling, Psychology, and Special Education, School of Education, Duquesne University, Pittsburgh, PA 15282, USA. huanga2840@duq.edu ·J Autism Dev Disord · Pubmed #23179346.

ABSTRACT: Since the late 1970s, special education in the People's Republic of China has experienced significant reform and fast development. However, education for children with severe developmental disabilities, especially autism spectrum disorders (ASDs), is still the greatest challenge in the field. This paper aims to give readers an overview of what is happening to children with ASDs in China. We first address the issue of prevalence of ASDs, and then offer an introduction to the diagnostic process. After that, a review of disability-related legislation is provided, followed by a description of current treatment options and available educational services. Finally we introduce all extent service providers and their roles.

6 Review Autism as a neural systems disorder: a theory of frontal-posterior underconnectivity. 2012

Just, Marcel Adam / Keller, Timothy A / Malave, Vicente L / Kana, Rajesh K / Varma, Sashank. ·Center for Cognitive Brain Imaging, Department of Psychology, Carnegie Mellon University, Pittsburgh, PA 15213, USA. just@cmu.edu ·Neurosci Biobehav Rev · Pubmed #22353426.

ABSTRACT: The underconnectivity theory of autism attributes the disorder to lower anatomical and functional systems connectivity between frontal and more posterior cortical processing. Here we review evidence for the theory and present a computational model of an executive functioning task (Tower of London) implementing the assumptions of underconnectivity. We make two modifications to a previous computational account of performance and brain activity in typical individuals in the Tower of London task (Newman et al., 2003): (1) the communication bandwidth between frontal and parietal areas was decreased and (2) the posterior centers were endowed with more executive capability (i.e., more autonomy, an adaptation is proposed to arise in response to the lowered frontal-posterior bandwidth). The autism model succeeds in matching the lower frontal-posterior functional connectivity (lower synchronization of activation) seen in fMRI data, as well as providing insight into behavioral response time results. The theory provides a unified account of how a neural dysfunction can produce a neural systems disorder and a psychological disorder with the widespread and diverse symptoms of autism.

7 Review The nature of brain dysfunction in autism: functional brain imaging studies. 2010

Minshew, Nancy J / Keller, Timothy A. ·University of Pittsburgh School of Medicine, Webster Hall, Suite 300, 3811 O'Hara Street, USA. minshewnj@upmc.edu ·Curr Opin Neurol · Pubmed #20154614.

ABSTRACT: PURPOSE OF REVIEW: Functional magnetic resonance imaging studies have had a profound impact on the delineation of the neurobiologic basis for autism. Advances in fMRI technology for investigating functional connectivity, resting state connectivity, and a default mode network have provided further detail about disturbances in brain organization and brain-behavior relationships in autism to be reviewed in this article. RECENT FINDINGS: Recent fMRI studies have provided evidence of enhanced activation and connectivity of posterior, or parietal-occipital, networks and enhanced reliance on visuospatial abilities for visual and verbal reasoning in high functioning individuals with autism. Evidence also indicates altered activation in frontostriatal networks for cognitive control, particularly involving anterior cingulate cortex, and altered connectivity in the resting state and the default mode network. The findings suggest that the specialization of many cortical networks of the human brain has failed to develop fully in high functioning individuals with autism. SUMMARY: This research provides a growing specification of to the neurobiologic basis for this complex syndrome and for the co-occurrence of the signs and symptoms as a syndrome. With this knowledge has come new neurobiologically based opportunities for intervention.

8 Review Neurodevelopment and executive function in autism. 2008

O'Hearn, Kirsten / Asato, Miya / Ordaz, Sarah / Luna, Beatriz. ·University of Pittsburgh, PA 15213, USA. ohearnk@upmc.edu ·Dev Psychopathol · Pubmed #18838033.

ABSTRACT: Autism is a neurodevelopmental disorder characterized by social and communication deficits, and repetitive behavior. Studies investigating the integrity of brain systems in autism suggest a wide range of gray and white matter abnormalities that are present early in life and change with development. These abnormalities predominantly affect association areas and undermine functional integration. Executive function, which has a protracted development into adolescence and reflects the integration of complex widely distributed brain function, is also affected in autism. Evidence from studies probing response inhibition and working memory indicate impairments in these core components of executive function, as well as compensatory mechanisms that permit normative function in autism. Studies also demonstrate age-related improvements in executive function from childhood to adolescence in autism, indicating the presence of plasticity and suggesting a prolonged window for effective treatment. Despite developmental gains, mature executive functioning is limited in autism, reflecting abnormalities in wide-spread brain networks that may lead to impaired processing of complex information across all domains.

9 Review Charting the typical and atypical development of the social brain. 2008

Pelphrey, Kevin A / Carter, Elizabeth J. ·Department of Psychology, Baker Hall 342c, Carnegie Mellon University, 5000 Forbes Avenue, Pittsburgh, PA 15213,USA. kpelphrey@cmu.edu ·Dev Psychopathol · Pubmed #18838032.

ABSTRACT: We describe recent progress in our program of research that aims to use functional magnetic resonance imaging (fMRI) to identify and delineate the brain systems involved in social perception and to chart the development of those systems and their roles as mechanisms supporting the development of social cognition in children, adolescents, and adults with and without autism. This research program was initiated with the intention of further specifying the role of the posterior superior temporal sulcus (STS) region in the network of neuroanatomical structures comprising the social brain. Initially, this work focused on evaluating STS function when typically developing adults were engaged in the visual analysis of other people's actions and intentions. We concluded that that the STS region plays an important role in social perception via its involvement in representing and predicting the actions and social intentions of other people from an analysis of biological-motion cues. These studies of typically developing people provided a set of core findings and a methodological approach that informed a set of fMRI studies of social perception dysfunction in autism. The work has established that dysfunction in the STS region, as well as reduced connectivity between this region and other social brain structures including the fusiform gyrus and amygdala, play a role in the pathophysiology of social perception deficits in autism. Most recently, this research program has incorporated a developmental perspective in beginning to chart the development of the STS region in children with and without autism.

10 Clinical Trial A cleanroom sleeping environment's impact on markers of oxidative stress, immune dysregulation, and behavior in children with autism spectrum disorders. 2015

Faber, Scott / Zinn, Gregory M / Boggess, Andrew / Fahrenholz, Timothy / Kern, John C / Kingston, H M Skip. ·Medicine, The Children's Institute, 1405 Shady Avenue, Pittsburgh, PA, 15217, USA. sfa@the-institute.org. · Chemistry and Biochemistry, Duquesne University, 600 Forbes Avenue, Pittsburgh, PA, 15282, USA. zinng@duq.edu. · Chemistry and Biochemistry, Duquesne University, 600 Forbes Avenue, Pittsburgh, PA, 15282, USA. boggessa@duq.edu. · Chemistry and Biochemistry, Duquesne University, 600 Forbes Avenue, Pittsburgh, PA, 15282, USA. fahrenholzt@yahoo.com. · Mathematics and Computer Science, Duquesne University, 600 Forbes Avenue, Pittsburgh, PA, 15282, USA. kernj@duq.edu. · Chemistry and Biochemistry, Duquesne University, 600 Forbes Avenue, Pittsburgh, PA, 15282, USA. kingston@duq.edu. ·BMC Complement Altern Med · Pubmed #25887094.

ABSTRACT: BACKGROUND: An emerging paradigm suggests children with autism display a unique pattern of environmental, genetic, and epigenetic triggers that make them susceptible to developing dysfunctional heavy metal and chemical detoxification systems. These abnormalities could be caused by alterations in the methylation, sulfation, and metalloprotein pathways. This study sought to evaluate the physiological and behavioral effects of children with autism sleeping in an International Organization for Standardization Class 5 cleanroom. METHODS: Ten children with autism, ages 3-12, slept in a cleanroom for two weeks to evaluate changes in toxin levels, oxidative stress, immune dysregulation, and behavior. Before and after the children slept in the cleanroom, samples of blood and hair and rating scale scores were obtained to assess these changes. RESULTS: Five children significantly lowered their concentration of oxidized glutathione, a biomarker of oxidative stress. The younger cohort, age 5 and under, showed significantly greater mean decreases in two markers of immune dysregulation, CD3% and CD4%, than the older cohort. Changes in serum magnesium, influencing neuronal regulation, correlated negatively while changes in serum iron, affecting oxygenation of tissues, correlated positively with age. Changes in serum benzene and PCB 28 concentrations showed significant negative correlations with age. The younger children demonstrated significant improvements on behavioral rating scales compared to the older children. In a younger pair of identical twins, one twin showed significantly greater improvements in 4 out of 5 markers of oxidative stress, which corresponded with better overall behavioral rating scale scores than the other twin. CONCLUSIONS: Younger children who slept in the cleanroom altered elemental levels, decreased immune dysregulation, and improved behavioral rating scales, suggesting that their detoxification metabolism was briefly enhanced. The older children displayed a worsening in behavioral rating scale performance, which may have been caused by the mobilization of toxins from their tissues. The interpretation of this exploratory study is limited by lack of a control group and small sample size. The changes in physiology and behavior noted suggest that performance of larger, prospective controlled studies of exposure to nighttime or 24 hour cleanroom conditions for longer time periods may be useful for understanding detoxification in children with autism. TRIAL REGISTRATION: Clinical Trial Registration Number NCT02195401 (Obtained July 18, 2014).

11 Article Phenotypic association of 15q11.2 CNVs of the region of breakpoints 1-2 (BP1-BP2) in a large cohort of samples referred for genetic diagnosis. 2019

Mohan, K Naga / Cao, Ye / Pham, Justin / Cheung, Sau Wai / Hoffner, Lori / Ou, Z Zishuo / Surti, Urvashi / Cook, Edwin H / Beaudet, Arthur L. ·Department of Biological Sciences, BITS Pilani-Hyderabad Campus, Jawahar Nagar, Hyderabad, Telangana, 500078, India. kommumohan@gmail.com. · Department of Molecular and Human Genetics, Baylor College of Medicine, 1 Baylor Plaza, Houston, TX, 77030, USA. · Department of Obstetrics and Gynecology, The Chinese University of Hong Kong, Hong Kong, SAR, China. · Pittsburgh Cytogenetics Laboratory, Center of Medical Genetics and Genomics, Magee-Womens Hospital of UPMC, Pittsburgh, PA, 15213, USA. · Department of Psychiatry, University of Illinois at Chicago, Chicago, IL, 60608, USA. ·J Hum Genet · Pubmed #30542208.

ABSTRACT: In view of conflicting reports on the pathogenicity of 15q11.2 CNVs of the breakpoints 1-2 (BP1-BP2) region and lack of association with a specific phenotype, we collected phenotypic data on 51,462 patients referred for genetic testing at two centers (Magee-Womens Hospital of UPMC and Baylor Genetics Laboratories, Baylor College of Medicine). Using array CGH, 262 patients with deletions and 215 with duplications were identified and tested for their association with four phenotypes (developmental delay, dysmorphic features, autism group of disorders, and epilepsy/seizures). Only association of deletions with dysmorphic features was observed (P = 0.013) with low penetrance (3.8%). Our results, viewed in the context of other reports suggesting the lack of a clear phenotypic outcome, underscore the need for detailed phenotypic studies to better understand the pathogenicity of 15q11.2 (BP1-BP2) CNVs.

12 Article An interactome perturbation framework prioritizes damaging missense mutations for developmental disorders. 2018

Chen, Siwei / Fragoza, Robert / Klei, Lambertus / Liu, Yuan / Wang, Jiebiao / Roeder, Kathryn / Devlin, Bernie / Yu, Haiyuan. ·Department of Biological Statistics and Computational Biology, Cornell University, Ithaca, NY, USA. · Weill Institute for Cell and Molecular Biology, Cornell University, Ithaca, NY, USA. · Department of Molecular Biology and Genetics, Cornell University, Ithaca, NY, USA. · Department of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA. · Department of Statistics and Data Science, Carnegie Mellon University, Pittsburgh, PA, USA. · Department of Statistics and Data Science, Carnegie Mellon University, Pittsburgh, PA, USA. roeder@andrew.cmu.edu. · Computational Biology Department, Carnegie Mellon University, Pittsburgh, PA, USA. roeder@andrew.cmu.edu. · Department of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA. devlinbj@upmc.edu. · Department of Biological Statistics and Computational Biology, Cornell University, Ithaca, NY, USA. haiyuan.yu@cornell.edu. · Weill Institute for Cell and Molecular Biology, Cornell University, Ithaca, NY, USA. haiyuan.yu@cornell.edu. ·Nat Genet · Pubmed #29892012.

ABSTRACT: Identifying disease-associated missense mutations remains a challenge, especially in large-scale sequencing studies. Here we establish an experimentally and computationally integrated approach to investigate the functional impact of missense mutations in the context of the human interactome network and test our approach by analyzing ~2,000 de novo missense mutations found in autism subjects and their unaffected siblings. Interaction-disrupting de novo missense mutations are more common in autism probands, principally affect hub proteins, and disrupt a significantly higher fraction of hub interactions than in unaffected siblings. Moreover, they tend to disrupt interactions involving genes previously implicated in autism, providing complementary evidence that strengthens previously identified associations and enhances the discovery of new ones. Importantly, by analyzing de novo missense mutation data from six disorders, we demonstrate that our interactome perturbation approach offers a generalizable framework for identifying and prioritizing missense mutations that contribute to the risk of human disease.

13 Article A Statistical Framework for Mapping Risk Genes from De Novo Mutations in Whole-Genome-Sequencing Studies. 2018

Liu, Yuwen / Liang, Yanyu / Cicek, A Ercument / Li, Zhongshan / Li, Jinchen / Muhle, Rebecca A / Krenzer, Martina / Mei, Yue / Wang, Yan / Knoblauch, Nicholas / Morrison, Jean / Zhao, Siming / Jiang, Yi / Geller, Evan / Ionita-Laza, Iuliana / Wu, Jinyu / Xia, Kun / Noonan, James P / Sun, Zhong Sheng / He, Xin. ·Department of Human Genetics, The University of Chicago, Chicago, IL 60637, USA. · Computational Biology Department, School of Computer Science, Carnegie Mellon University, Pittsburgh, PA 15123, USA. · Computational Biology Department, School of Computer Science, Carnegie Mellon University, Pittsburgh, PA 15123, USA; Computer Engineering Department, Bilkent University, Ankara 06800, Turkey. · Institute of Genomic Medicine, Wenzhou Medical University, Wenzhou, Zhejiang 325000, China. · Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410078, China; National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, Hunan 410078, China. · Child Study Center, Yale Medicine, New Haven, CT 06520, USA. · Kavli Institute for Neuroscience, Yale School of Medicine, New Haven, CT 06520, USA. · Beijing Institutes of Life Science, Chinese Academy of Sciences, Beijing 100000, China. · Committee on Genetics, Genomics and Systems Biology, The University of Chicago, Chicago, IL 60637, USA. · Institute of Genomic Medicine, Wenzhou Medical University, Wenzhou, Zhejiang 325000, China; Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410078, China. · Department of Genetics, Yale School of Medicine, New Haven, CT 06520, USA; Kavli Institute for Neuroscience, Yale School of Medicine, New Haven, CT 06520, USA. · Department of Biostatistics, Columbia University, New York, NY 10027, USA. · Beijing Institutes of Life Science, Chinese Academy of Sciences, Beijing 100000, China; Institute of Genomic Medicine, Wenzhou Medical University, Wenzhou, Zhejiang 325000, China. · Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410078, China. · Beijing Institutes of Life Science, Chinese Academy of Sciences, Beijing 100000, China; Institute of Genomic Medicine, Wenzhou Medical University, Wenzhou, Zhejiang 325000, China. Electronic address: sunzs@mail.biols.ac.cn. · Department of Human Genetics, The University of Chicago, Chicago, IL 60637, USA. Electronic address: xinhe@uchicago.edu. ·Am J Hum Genet · Pubmed #29754769.

ABSTRACT: Analysis of de novo mutations (DNMs) from sequencing data of nuclear families has identified risk genes for many complex diseases, including multiple neurodevelopmental and psychiatric disorders. Most of these efforts have focused on mutations in protein-coding sequences. Evidence from genome-wide association studies (GWASs) strongly suggests that variants important to human diseases often lie in non-coding regions. Extending DNM-based approaches to non-coding sequences is challenging, however, because the functional significance of non-coding mutations is difficult to predict. We propose a statistical framework for analyzing DNMs from whole-genome sequencing (WGS) data. This method, TADA-Annotations (TADA-A), is a major advance of the TADA method we developed earlier for DNM analysis in coding regions. TADA-A is able to incorporate many functional annotations such as conservation and enhancer marks, to learn from data which annotations are informative of pathogenic mutations, and to combine both coding and non-coding mutations at the gene level to detect risk genes. It also supports meta-analysis of multiple DNM studies, while adjusting for study-specific technical effects. We applied TADA-A to WGS data of ∼300 autism-affected family trios across five studies and discovered several autism risk genes. The software is freely available for all research uses.

14 Article Objective measurement of head movement differences in children with and without autism spectrum disorder. 2018

Martin, Katherine B / Hammal, Zakia / Ren, Gang / Cohn, Jeffrey F / Cassell, Justine / Ogihara, Mitsunori / Britton, Jennifer C / Gutierrez, Anibal / Messinger, Daniel S. ·1Department of Psychology, University of Miami, 5665 Ponce de Leon Blvd, Coral Gables, FL 33146 USA. · 2Robotics Institute, Carnegie Mellon University, 5000 Forbes Ave, Pittsburgh, PA 15213 USA. · 3Center for Computational Science, University of Miami, 1320 S Dixie Hwy, Miami, FL 33146 USA. · 4Department of Psychology, University of Pittsburgh, 210 S. Bouquet St., Pittsburgh, PA 15260 USA. · 5Human Computer Interaction, Carnegie Mellon University, 5000 Forbes Avenue, Pittsburgh, PA 15213 USA. · 6Department of Computer Science, University of Miami, 1365 Memorial Drive, Coral Gables, FL 33146 USA. ·Mol Autism · Pubmed #29492241.

ABSTRACT: Background: Deficits in motor movement in children with autism spectrum disorder (ASD) have typically been characterized qualitatively by human observers. Although clinicians have noted the importance of atypical head positioning (e.g. social peering and repetitive head banging) when diagnosing children with ASD, a quantitative understanding of head movement in ASD is lacking. Here, we conduct a quantitative comparison of head movement dynamics in children with and without ASD using automated, person-independent computer-vision based head tracking (Zface). Because children with ASD often exhibit preferential attention to nonsocial versus social stimuli, we investigated whether children with and without ASD differed in their head movement dynamics depending on stimulus sociality. Methods: The current study examined differences in head movement dynamics in children with ( Results: Compared with children without ASD, children with ASD exhibited greater yaw displacement, indicating greater head turning, and greater velocity of yaw and roll, indicating faster head turning and inclination. Follow-up analyses indicated that differences in head movement dynamics were specific to the social rather than the nonsocial stimulus condition. Conclusions: Head movement dynamics (displacement and velocity) were greater in children with ASD than in children without ASD, providing a quantitative foundation for previous clinical reports. Head movement differences were evident in lateral (yaw and roll) but not vertical (pitch) movement and were specific to a social rather than nonsocial condition. When presented with social stimuli, children with ASD had higher levels of head movement and moved their heads more quickly than children without ASD. Children with ASD may use head movement to modulate their perception of social scenes.

15 Article Aberrant Oscillatory Synchrony Is Biased Toward Specific Frequencies and Processing Domains in the Autistic Brain. 2017

Ghuman, Avniel Singh / van den Honert, Rebecca N / Huppert, Theodore J / Wallace, Gregory L / Martin, Alex. ·Laboratory of Brain and Cognition, National Institute of Mental Health, Bethesda, Maryland; Department of Neurological Surgery; , University of Pittsburgh, Pittsburgh, Pennsylvania; Center for the Neural Basis of Cognition, University of Pittsburgh, Pittsburgh, Pennsylvania. Electronic address: ghumana@upmc.edu. · Laboratory of Brain and Cognition, National Institute of Mental Health, Bethesda, Maryland. · Center for the Neural Basis of Cognition, University of Pittsburgh, Pittsburgh, Pennsylvania; Department of Radiology, University of Pittsburgh, Pittsburgh, Pennsylvania. · Laboratory of Brain and Cognition, National Institute of Mental Health, Bethesda, Maryland; Department of Speech and Hearing Sciences, George Washington University, Washington, DC. ·Biol Psychiatry Cogn Neurosci Neuroimaging · Pubmed #29528295.

ABSTRACT: BACKGROUND: Prevailing theories suggest that autism spectrum disorder (ASD) results from impaired brain communication, causing aberrant synchrony among neuronal populations. However, it remains debated whether synchrony abnormalities are among local or long-range circuits, are circuit specific or are generalized, reflect hypersynchrony or reflect hyposynchrony, and are frequency band-specific or are distributed across the frequency spectrum. METHODS: To help clarify these unresolved questions, we recorded spontaneous magnetoencephalography data and used a data-driven, whole-brain analysis of frequency-specific interregional synchrony in higher-functioning adolescents and adults, with 17 ASD and 18 control subjects matched on age, IQ, and sex, and equal for motion. RESULTS: Individuals with ASD showed local hypersynchrony in the theta band (4-7 Hz) in the lateral occipitotemporal cortex. Long-range hyposynchrony was seen in the alpha band (10-13 Hz), which was most prominent in neural circuitry underpinning social processing. The magnitude of this alpha band hyposynchrony was correlated with social symptom severity. CONCLUSIONS: These results suggest that although ASD is associated with both decreased long-range synchrony and increased posterior local synchrony, with each effect limited to a specific frequency band, impairments in social functioning may be most related to decreased alpha band synchronization between critical nodes of the social processing network.

16 Article Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. 2017

Jin, Sheng Chih / Homsy, Jason / Zaidi, Samir / Lu, Qiongshi / Morton, Sarah / DePalma, Steven R / Zeng, Xue / Qi, Hongjian / Chang, Weni / Sierant, Michael C / Hung, Wei-Chien / Haider, Shozeb / Zhang, Junhui / Knight, James / Bjornson, Robert D / Castaldi, Christopher / Tikhonoa, Irina R / Bilguvar, Kaya / Mane, Shrikant M / Sanders, Stephan J / Mital, Seema / Russell, Mark W / Gaynor, J William / Deanfield, John / Giardini, Alessandro / Porter, George A / Srivastava, Deepak / Lo, Cecelia W / Shen, Yufeng / Watkins, W Scott / Yandell, Mark / Yost, H Joseph / Tristani-Firouzi, Martin / Newburger, Jane W / Roberts, Amy E / Kim, Richard / Zhao, Hongyu / Kaltman, Jonathan R / Goldmuntz, Elizabeth / Chung, Wendy K / Seidman, Jonathan G / Gelb, Bruce D / Seidman, Christine E / Lifton, Richard P / Brueckner, Martina. ·Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA. · Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA. · Cardiovascular Division, Brigham and Women's Hospital, Boston, Massachusetts, USA. · Department of Biostatistics, Yale School of Public Health, New Haven, Connecticut, USA. · Division of Newborn Medicine, Department of Medicine, Boston Children's Hospital, Boston, Massachusetts, USA. · Department of Applied Physics and Applied Mathematics, Columbia University, New York, New York, USA. · Department of Pediatrics, Columbia University Medical Center, New York, New York, USA. · Department of Computational Chemistry, University College London School of Pharmacy, London, UK. · Yale Center for Genome Analysis, Yale University, New Haven, Connecticut, USA. · Department of Psychiatry, University of California San Francisco, San Francisco, California, USA. · Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada. · Division of Pediatric Cardiology, University of Michigan, Ann Arbor, Michigan, USA. · Department of Pediatric Cardiac Surgery, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA. · Department of Cardiology, University College London and Great Ormond Street Hospital, London, UK. · Department of Pediatrics, University of Rochester Medical Center, The School of Medicine and Dentistry, Rochester, New York, USA. · Gladstone Institute of Cardiovascular Disease, San Francisco, California, USA. · Roddenberry Stem Cell Center at Gladstone, San Francisco, California, USA. · Departments of Pediatrics and Biochemistry & Biophysics, University of California, San Francisco, San Francisco, California, USA. · Department of Developmental Biology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA. · Departments of Systems Biology and Biomedical Informatics, Columbia University Medical Center, New York, New York, USA. · Department of Human Genetics, Eccles Institute of Human Genetics, University of Utah and School of Medicine, Salt Lake City, Utah, USA. · USTAR Center for Genetic Discovery, University of Utah, Salt Lake City, Utah, USA. · Division of Pediatric Cardiology, University of Utah, Salt Lake City, Utah, USA. · Department of Cardiology, Boston Children's Hospital, Boston, Massachusetts, USA. · Pediatric Cardiac Surgery, Children's Hospital of Los Angeles, Los Angeles, California, USA. · Heart Development and Structural Diseases Branch, Division of Cardiovascular Sciences, NHLBI/NIH, Bethesda, Maryland, USA. · Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA. · Departments of Pediatrics and Medicine, Columbia University Medical Center, New York, New York, USA. · Mindich Child Health and Development Institute and Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, New York, USA. · Howard Hughes Medical Institute, Harvard University, Boston, Massachusetts, USA. · Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, New York, USA. · Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut, USA. ·Nat Genet · Pubmed #28991257.

ABSTRACT: Congenital heart disease (CHD) is the leading cause of mortality from birth defects. Here, exome sequencing of a single cohort of 2,871 CHD probands, including 2,645 parent-offspring trios, implicated rare inherited mutations in 1.8%, including a recessive founder mutation in GDF1 accounting for ∼5% of severe CHD in Ashkenazim, recessive genotypes in MYH6 accounting for ∼11% of Shone complex, and dominant FLT4 mutations accounting for 2.3% of Tetralogy of Fallot. De novo mutations (DNMs) accounted for 8% of cases, including ∼3% of isolated CHD patients and ∼28% with both neurodevelopmental and extra-cardiac congenital anomalies. Seven genes surpassed thresholds for genome-wide significance, and 12 genes not previously implicated in CHD had >70% probability of being disease related. DNMs in ∼440 genes were inferred to contribute to CHD. Striking overlap between genes with damaging DNMs in probands with CHD and autism was also found.

17 Article A Prospective Study of the Concordance of DSM-IV and DSM-5 Diagnostic Criteria for Autism Spectrum Disorder. 2017

Mazurek, Micah O / Lu, Frances / Symecko, Heather / Butter, Eric / Bing, Nicole M / Hundley, Rachel J / Poulsen, Marie / Kanne, Stephen M / Macklin, Eric A / Handen, Benjamin L. ·Department of Health Psychology, Thompson Center for Autism and Neurodevelopmental Disorders, University of Missouri, 205 Portland Street, Columbia, MO, 65211, USA. mazurekm@missouri.edu. · Curry School of Education, University of Virginia, Charlottesville, VA, USA. mazurekm@missouri.edu. · Biostatistics Center, Massachusetts General Hospital, Boston, MA, USA. · Besser Center for BRCA, Abramson Cancer Center, University of Pennsylvania, Philadelphia, USA. · Department of Pediatrics and Psychology, Nationwide Children's Hospital, The Ohio State University, Columbus, OH, USA. · Division of Developmental and Behavioral Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA. · Division of Developmental Medicine, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA. · Department of Pediatrics, Children's Hospital Los Angeles, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA. · Department of Health Psychology, Thompson Center for Autism and Neurodevelopmental Disorders, University of Missouri, 205 Portland Street, Columbia, MO, 65211, USA. · Department of Medicine, Harvard Medical School, Boston, MA, USA. · Department of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA. ·J Autism Dev Disord · Pubmed #28620892.

ABSTRACT: The transition from DSM-IV to DSM-5 criteria for autism spectrum disorder (ASD) sparked considerable concern about the potential implications of these changes. This study was designed to address limitations of prior studies by prospectively examining the concordance of DSM-IV and final DSM-5 criteria on a consecutive sample of 439 children referred for autism diagnostic evaluations. Concordance and discordance were assessed using a consistent diagnostic battery. DSM-5 criteria demonstrated excellent overall specificity and good sensitivity relative to DSM-IV criteria. Sensitivity and specificity were strongest for children meeting DSM-IV criteria for autistic disorder, but poor for those meeting criteria for Asperger's disorder and pervasive developmental disorder. Higher IQ, older age, female sex, and less pronounced ASD symptoms were associated with greater discordance.

18 Article Social-cognitive brain function and connectivity during visual perspective-taking in autism and schizophrenia. 2017

Eack, Shaun M / Wojtalik, Jessica A / Keshavan, Matcheri S / Minshew, Nancy J. ·School of Social Work, University of Pittsburgh, United States; Western Psychiatric Institute and Clinic, University of Pittsburgh School of Medicine, United States. Electronic address: sme12@pitt.edu. · School of Social Work, University of Pittsburgh, United States. · Western Psychiatric Institute and Clinic, University of Pittsburgh School of Medicine, United States; Massachusetts Mental Health Center Public Psychiatry Division of the Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, United States. · Western Psychiatric Institute and Clinic, University of Pittsburgh School of Medicine, United States; Department of Neurology, University of Pittsburgh School of Medicine, United States. ·Schizophr Res · Pubmed #28291690.

ABSTRACT: BACKGROUND: Autism spectrum disorder (ASD) and schizophrenia are neurodevelopmental conditions that are characterized by significant social impairment. Emerging genomic and neurobiological evidence has increasingly pointed to shared pathophysiologic mechanisms in the two disorders. Overlap in social impairment may reflect similar underlying neural dysfunction in social-cognitive brain networks, yet few studies have directly compared brain function and communication between those with ASD and schizophrenia. METHODS: Outpatients with schizophrenia (n=36), ASD (n=33), and healthy volunteers (n=37) completed a visual perspective-taking task during functional neuroimaging at 3T to assess similarities and differences in fronto-temporal brain function and connectivity during social-cognitive processing. Analyses employed general linear models to examine differences in amplitude of BOLD-signal response between disorder groups, and computed functional connectivity coefficients to investigate differences in the connectivity profiles of networks implicated in social cognition. RESULTS: Despite similar behavioral impairments, participants with ASD and schizophrenia evidenced distinct neural abnormalities during perspective-taking. Functional activation results indicated reduced temporo-parietal junction and medial prefrontal activity in ASD compared to schizophrenia (all P CONCLUSIONS: Autism and schizophrenia are characterized by similar social-cognitive impairments that may stem from different underlying abnormalities in the functional organization and communication of the social brain.

19 Article Is Proxy Consent for an Invasive Procedure on a Patient with Intellectual Disabilities Ethically Sufficient? 2016

Corey, Stephen / Bulova, Peter / Charles, Sonya. ·Associate clinical professor in the Department of Obstetrics, Gynecology, and Reproductive Medicine at Magee-Womens Hospital of the University of Pittsburgh Medical Center in Pennsylvania. · Associate professor of internal medicine at the University of Pittsburgh in Pennsylvania. · Associate professor in the Department of Philosophy and Comparative Religion at Cleveland State University in Ohio. ·AMA J Ethics · Pubmed #27099186.

ABSTRACT: -- No abstract --

20 Article Differential sensory fMRI signatures in autism and schizophrenia: Analysis of amplitude and trial-to-trial variability. 2016

Haigh, Sarah M / Gupta, Akshat / Barb, Scott M / Glass, Summer A F / Minshew, Nancy J / Dinstein, Ilan / Heeger, David J / Eack, Shaun M / Behrmann, Marlene. ·Department of Psychology, Carnegie Mellon University, 5000 Forbes Avenue, Pittsburgh, PA 15213, USA; Department of Psychiatry, University of Pittsburgh, Pittsburgh, PA 15213, USA. Electronic address: haighsm@upmc.edu. · Department of Psychology, Carnegie Mellon University, 5000 Forbes Avenue, Pittsburgh, PA 15213, USA. · School of Social Work, University of Pittsburgh, 2117 Cathedral of Learning, Pittsburgh, PA 15260, USA. · Department of Neurology, University of Pittsburgh, Pittsburgh, PA 15213, USA; Department of Psychiatry, University of Pittsburgh, Pittsburgh, PA 15213, USA. · Psychology Department, Ben-Gurion University of the Negev, 653, Beer-Sheva, 84105, Israel. · Department of Psychology and Center for Neural Science, New York University, 6 Washington Place, New York, NY 10003, USA. · School of Social Work, University of Pittsburgh, 2117 Cathedral of Learning, Pittsburgh, PA 15260, USA; Department of Psychiatry, University of Pittsburgh, Pittsburgh, PA 15213, USA. ·Schizophr Res · Pubmed #27083780.

ABSTRACT: Autism and schizophrenia share multiple phenotypic and genotypic markers, and there is ongoing debate regarding the relationship of these two disorders. To examine whether cortical dynamics are similar across these disorders, we directly compared fMRI responses to visual, somatosensory and auditory stimuli in adults with autism (N=15), with schizophrenia (N=15), and matched controls (N=15). All participants completed a one-back letter detection task presented at fixation (to control attention) while task-irrelevant sensory stimulation was delivered to the different modalities. We focused specifically on the response amplitudes and the variability in sensory fMRI responses of the two groups, given the evidence of greater trial-to-trial variability in adults with autism. Both autism and schizophrenia individuals showed weaker signal-to-noise ratios (SNR) in sensory-evoked responses compared to controls (d>0.42), but for different reasons. For the autism group, the fMRI response amplitudes were indistinguishable from controls but were more variable trial-to-trial (d=0.47). For the schizophrenia group, response amplitudes were smaller compared to autism (d=0.44) and control groups (d=0.74), but were not significantly more variable (d<0.29). These differential group profiles suggest (1) that greater trial-to-trial variability in cortical responses may be specific to autism and is not a defining characteristic of schizophrenia, and (2) that blunted response amplitudes may be characteristic of schizophrenia. The relationship between the amplitude and the variability of cortical activity might serve as a specific signature differentiating these neurodevelopmental disorders. Identifying the neural basis of these responses and their relationship to the underlying genetic bases may substantially enlighten the understanding of both disorders.

21 Article No difference in cross-modal attention or sensory discrimination thresholds in autism and matched controls. 2016

Haigh, Sarah M / Heeger, David J / Heller, Laurie M / Gupta, Akshat / Dinstein, Ilan / Minshew, Nancy J / Behrmann, Marlene. ·Department of Psychology and Center for the Neural Basis of Cognition, Carnegie Mellon University, 5000 Forbes Avenue, Pittsburgh, PA 15213, USA. Electronic address: haighsm@upmc.edu. · Department of Psychology and Center for Neural Science, New York University, 6 Washington Place, New York, NY 10003, USA. · Department of Psychology and Center for the Neural Basis of Cognition, Carnegie Mellon University, 5000 Forbes Avenue, Pittsburgh, PA 15213, USA. · Psychology Department, Ben-Gurion University of the Negev, 653, Beer-Sheva 84105, Israel. · Departments of Psychiatry & Neurology, University of Pittsburgh, Pittsburgh, PA 15213, USA. ·Vision Res · Pubmed #26940029.

ABSTRACT: Autism has been associated with abnormalities in sensory and attentional processing. Here, we assessed these processes independently in the visual and auditory domains using a visual contrast-discrimination task and an auditory modulation-depth discrimination task. To evaluate changes in sensory function by attention, we measured behavioral performance (discrimination accuracy) when subjects were cued to attend and respond to the same stimulus (frequent valid cue) or cued to attend to one stimulus and respond to the non-cued stimulus (infrequent invalid cue). The stimuli were presented at threshold to ensure equal difficulty across participants and groups. Results from fifteen high-functioning adult individuals with autism and fifteen matched controls revealed no significant differences in visual or auditory discrimination thresholds across groups. Furthermore, attention robustly modulated performance accuracy (performance was better for valid than invalid cues) in both sensory modalities and to an equivalent extent in both groups. In conclusion, when using this well-controlled method, we found no evidence of atypical sensory function or atypical attentional modulation in a group of high functioning individuals with clear autism symptomatology.

22 Article Over-Responsiveness and Greater Variability in Roughness Perception in Autism. 2016

Haigh, Sarah M / Minshew, Nancy / Heeger, David J / Dinstein, Ilan / Behrmann, Marlene. ·Department of Psychology, Carnegie Mellon University, 5000 Forbes Avenue, Pittsburgh, Pennsylvania. · Center for Excellence in Autism Research, University of Pittsburgh, Webster Hall, Suite 300, 3811 O'Hara Street, Pittsburgh, Pennsylvania. · Department of Psychology and Center for Neural Science, New York University, 6 Washington Place, New York, New York. · Psychology Department, Ben-Gurion University of the Negev, 653, Beer-Sheva, 84105, Israel. ·Autism Res · Pubmed #26011310.

ABSTRACT: Although sensory problems, including tactile hypersensitivity and hyposensitivity (DSM-5) are commonly associated with autism, there is a dearth of systematic and rigorous research in this domain. Here, we report findings from a psychophysical experiment that explored differences in tactile perception between individuals with autism and typically developing control participants, who, using their index finger, rated a series of surfaces on the extent of their roughness. Each surface was rated multiple times and we calculated both the average rating and the variability across trials. Relative to controls, the individuals with autism perceived the surfaces as rougher overall and exhibited greater variability in their ratings across trials. These findings characterize altered tactile perception in autism and suggest that sensory problems in autism may be the product of overly responsive and variable sensory processing.

23 Article Abnormalities in brain systems supporting individuation and enumeration in autism. 2016

O'Hearn, Kirsten / Velanova, Katerina / Lynn, Andrew / Wright, Catherine / Hallquist, Michael / Minshew, Nancy / Luna, Beatriz. ·Department of Psychiatry, University of Pittsburgh. · Department of Neurology, University of Pittsburgh. ·Autism Res · Pubmed #26011184.

ABSTRACT: Previous work indicates that adults with autism display a decreased capacity when rapidly enumerating small sets of elements (i.e., subitizing), compared to typically developing (TD) individuals. This ability is crucial for fundamental visual functions such as object individuation and parallel processing. Thus, the deficit in autism suggests limits in these skills. To examine the neural basis of this limitation, adults with and without high functioning autism rapidly enumerated 1 to 8 randomly located squares during a neuroimaging study. Typically, adults are thought to use parallel visual processes to quantify up to three or four elements, and serial processes to enumerate more (5+) elements. We hypothesized that parietal lobe regions associated with counting would be recruited with smaller sets of elements in adults with autism, compared to TD adults. Consistent with this hypothesis, activation in parietal regions increased with smaller set sizes in adults with autism compared to TD adults. Increased activation for three elements was evident in several regions, including those thought to underlie subitizing. In addition, regions specific to the counting range in TD adults were often equally active for set sizes in the subitizing range in the adults with autism. Finally, significant deactivation was evident in TD adults, presumably reflecting relative suppression of regions specialized for competing processes, but was not apparent in adults with autism. These differences in brain function in adults with autism on a simple enumeration task suggest atypical brain organization and function that is likely to impact most visual tasks, especially those with multiple elements.

24 Article Animal, but not human, faces engage the distributed face network in adolescents with autism. 2016

Whyte, Elisabeth M / Behrmann, Marlene / Minshew, Nancy J / Garcia, Natalie V / Scherf, K Suzanne. ·Department of Psychology, Penn State University, USA. · Departments of Psychiatry and Neurology, University of Pittsburgh Medical School, USA. · Department of Psychology, Carnegie Mellon University, USA. ·Dev Sci · Pubmed #25873084.

ABSTRACT: Multiple hypotheses have been offered to explain the impaired face-processing behavior and the accompanying underlying disruptions in neural circuitry among individuals with autism. We explored the specificity of atypical face-processing activation and potential alterations to fusiform gyrus (FG) morphology as potential underlying mechanisms. Adolescents with high functioning autism (HFA) and age-matched typically developing (TD) adolescents were scanned with sMRI and fMRI as they observed human and animal faces. In spite of exhibiting comparable face recognition behavior, the HFA adolescents evinced hypo-activation throughout the face-processing system in response to unfamiliar human, but not animal, faces. They also exhibited greater activation in affective regions of the face-processing network in response to animal, but not human, faces. Importantly, this atypical pattern of activation in response to human faces was not related to atypical structural properties of the FG. This atypical neural response to human faces in autism may stem from abnormalities in the ability to represent the reward value of social (i.e. conspecific) stimuli.

25 Article Anatomical Abnormalities in Autism? 2016

Haar, Shlomi / Berman, Sigal / Behrmann, Marlene / Dinstein, Ilan. ·Department of Brain and Cognitive Sciences, Ben Gurion University of the Negev, Beer Sheva 84105, Israel. · Department of Industrial Engineering and Management, Ben Gurion University of the Negev, Beer Sheva 84105, Israel. · Department of Psychology, Carnegie Mellon University, Pittsburgh, PA 15213, USA. · Department of Brain and Cognitive Sciences, Ben Gurion University of the Negev, Beer Sheva 84105, Israel Department of Psychology, Ben Gurion University of the Negev, Beer Sheva 84105, Israel. ·Cereb Cortex · Pubmed #25316335.

ABSTRACT: Substantial controversy exists regarding the presence and significance of anatomical abnormalities in autism spectrum disorders (ASD). The release of the Autism Brain Imaging Data Exchange (∼1000 participants, age 6-65 years) offers an unprecedented opportunity to conduct large-scale comparisons of anatomical MRI scans across groups and to resolve many of the outstanding questions. Comprehensive univariate analyses using volumetric, thickness, and surface area measures of over 180 anatomically defined brain areas, revealed significantly larger ventricular volumes, smaller corpus callosum volume (central segment only), and several cortical areas with increased thickness in the ASD group. Previously reported anatomical abnormalities in ASD including larger intracranial volumes, smaller cerebellar volumes, and larger amygdala volumes were not substantiated by the current study. In addition, multivariate classification analyses yielded modest decoding accuracies of individuals' group identity (<60%), suggesting that the examined anatomical measures are of limited diagnostic utility for ASD. While anatomical abnormalities may be present in distinct subgroups of ASD individuals, the current findings show that many previously reported anatomical measures are likely to be of low clinical and scientific significance for understanding ASD neuropathology as a whole in individuals 6-35 years old.

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