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https://read.qxmd.com/read/30774589/atypical-flexibility-in-dynamic-functional-connectivity-quantifies-the-severity-in-autism-spectrum-disorder
#1
Vatika Harlalka, Raju S Bapi, P K Vinod, Dipanjan Roy
Resting-state functional connectivity (FC) analyses have shown atypical connectivity in autism spectrum disorder (ASD) as compared to typically developing (TD). However, this view emerges from investigating static FC overlooking the whole brain transient connectivity patterns. In our study, we investigated how age and disease influence the dynamic changes in functional connectivity of TD and ASD. We used resting-state functional magnetic resonance imaging (rs-fMRI) data stratified into three cohorts: children (7-11 years), adolescents (12-17 years), and adults (18+ years) for the analysis...
2019: Frontiers in Human Neuroscience
https://read.qxmd.com/read/30771619/a-pilot-investigation-of-neuroimaging-predictors-for-the-benefits-from-pivotal-response-treatment-for-children-with-autism
#2
John P Hegarty, Grace W Gengoux, Kari L Berquist, M Estefanía Millán, Serena M Tamura, Shweta Karve, Margaret D Rosenthal, Jennifer M Phillips, Antonio Y Hardan
Children with autism spectrum disorder (ASD) frequently exhibit language delays and functional communication deficits. Pivotal response treatment (PRT) is an effective intervention for targeting these skills; however, similar to other behavioral interventions, response to PRT is variable across individuals. Thus, objective markers capable of predicting treatment response are critically-needed to identify which children are most likely to benefit from this intervention. In this pilot study, we investigated whether structural neuroimaging measures from language regions in the brain are associated with response to PRT...
February 5, 2019: Journal of Psychiatric Research
https://read.qxmd.com/read/30768412/common-polygenic-variations-for-psychiatric-disorders-and-cognition-in-relation-to-brain-morphology-in-the-general-pediatric-population
#3
Silvia Alemany, Philip R Jansen, Ryan L Muetzel, Natália Marques, Hanan El Marroun, Vincent W V Jaddoe, Tinca J C Polderman, Henning Tiemeier, Danielle Posthuma, Tonya White
OBJECTIVE: To examine the relationship between polygenic scores (PGS) for five major psychiatric disorders and two cognitive traits with brain MRI morphological measurements in a large population-based sample of children. Additionally, we tested whether differences in brain morphology mediated associations between PGS for psychiatric disorders and related behavioral phenotypes. METHOD: The participants included 1,139 children from the Generation R Study assessed at 10 years-of-age with genotype and neuroimaging data available...
January 9, 2019: Journal of the American Academy of Child and Adolescent Psychiatry
https://read.qxmd.com/read/30741990/fourth-finger-dependence-of-high-functioning-autism-spectrum-disorder-in-multi-digit-force-coordination
#4
Shunta Togo, Takashi Itahashi, Ryuichiro Hashimoto, Chang Cai, Chieko Kanai, Nobumasa Kato, Hiroshi Imamizu
A number of studies have reported that the digit ratio 2D:4D (length of the second finger divided by length of the fourth finger) is smaller (longer fourth digit) in autism spectrum disorder (ASD) than in typically developed (TD) controls. Because form and function are closely related in biological systems, we hypothesized that the 4D dominance occurs in not only finger morphology but also physical performance in ASD. Individuals with ASD and TD controls participated in a multi-digit force-producing task. Individuals with ASD showed a significant 4D dependence compared to TD controls in the task...
February 11, 2019: Scientific Reports
https://read.qxmd.com/read/30740199/sensory-over-responsivity-parent-report-direct-assessment-measures-and-neural-architecture
#5
Teresa Tavassoli, Anne Brandes-Aitken, Robyn Chu, Lisa Porter, Sarah Schoen, Lucy Jane Miller, Molly Rae Gerdes, Julia Owen, Pratik Mukherjee, Elysa J Marco
Background: Sensory processing difficulties are common across neurodevelopmental disorders. Thus, reliable measures are needed to understand the biological underpinnings of these differences. This study aimed to define a scoring methodology specific to auditory (AOR) and tactile (TOR) over-responsivity. Second, in a pilot cohort using MRI Diffusion Tensor Imaging, we performed a proof of concept study of whether children with AOR showed measurable differences in their white matter integrity...
2019: Molecular Autism
https://read.qxmd.com/read/30738016/bifocal-germinoma-in-a-patient-with-16p11-2-microdeletion-syndrome
#6
Mara Ventura, Leonor Gomes, Joana Rosmaninho-Salgado, Luísa Barros, Isabel Paiva, Miguel Melo, Diana Oliveira, Francisco Carrilho
Intracranial germinomas are rare tumors affecting mostly patients at young age. Therefore, molecular data on its etiopathogenesis are scarce. We present a clinical case of a male patient of 25 years with an intracranial germinoma and a 16p11.2 microdeletion. His initial complaints were related to obesity, loss of facial hair and polydipsia. He also had a history of social-interaction difficulties during childhood. His blood tests were consistent with hypogonadotropic hypogonadism and secondary adrenal insufficiency, and he had been previously diagnosed with hypothyroidism...
February 7, 2019: Endocrinology, Diabetes & Metabolism Case Reports
https://read.qxmd.com/read/30718456/structural-neuroimaging-correlates-of-social-deficits-are-similar-in-autism-spectrum-disorder-and-attention-deficit-hyperactivity-disorder-analysis-from-the-pond-network
#7
Danielle A Baribeau, Annie Dupuis, Tara A Paton, Christopher Hammill, Stephen W Scherer, Russell J Schachar, Paul D Arnold, Peter Szatmari, Rob Nicolson, Stelios Georgiades, Jennifer Crosbie, Jessica Brian, Alana Iaboni, Azadeh Kushki, Jason P Lerch, Evdokia Anagnostou
Autism spectrum disorder (ASD), attention-deficit/hyperactivity disorder (ADHD), and obsessive-compulsive disorder (OCD) have been associated with difficulties recognizing and responding to social cues. Neuroimaging studies have begun to map the social brain; however, the specific neural substrates contributing to social deficits in neurodevelopmental disorders remain unclear. Three hundred and twelve children underwent structural magnetic resonance imaging of the brain (controls = 32, OCD = 44, ADHD = 77, ASD = 159; mean age = 11)...
February 4, 2019: Translational Psychiatry
https://read.qxmd.com/read/30711508/altered-connectivity-between-cerebellum-visual-and-sensory-motor-networks-in-autism-spectrum-disorder-results-from-the-eu-aims-longitudinal-european-autism-project
#8
Marianne Oldehinkel, Maarten Mennes, Andre Marquand, Tony Charman, Julian Tillmann, Christine Ecker, Flavio Dell'Acqua, Daniel Brandeis, Tobias Banaschewski, Sarah Baumeister, Carolin Moessnang, Simon Baron-Cohen, Rosemary Holt, Sven Bölte, Sarah Durston, Prantik Kundu, Michael V Lombardo, Will Spooren, Eva Loth, Declan G M Murphy, Christian F Beckmann, Jan K Buitelaar
BACKGROUND: Resting-state functional magnetic resonance imaging-based studies on functional connectivity in autism spectrum disorder (ASD) have generated inconsistent results. Interpretation of findings is further hampered by small samples and a focus on a limited number of networks, with networks underlying sensory processing being largely underexamined. We aimed to comprehensively characterize ASD-related alterations within and between 20 well-characterized resting-state networks using baseline data from the EU-AIMS (European Autism Interventions-A Multicentre Study for Developing New Medications) Longitudinal European Autism Project...
December 5, 2018: Biological Psychiatry: Cognitive Neuroscience and Neuroimaging
https://read.qxmd.com/read/30711191/hyperperfusion-of-frontal-white-and-subcortical-gray-matter-in-autism-spectrum-disorder
#9
Bradley S Peterson, Ariana Zargarian, Jarod B Peterson, Suzanne Goh, Siddhant Sawardekar, Steven C R Williams, David J Lythgoe, Fernando O Zelaya, Ravi Bansal
BACKGROUND: Our aim was to assess resting cerebral blood flow (rCBF) in children and adults with autism spectrum disorder (ASD). METHODS: We acquired pulsed arterial spin labeling magnetic resonance imaging data in 44 generally high-functioning participants with ASD simplex and 66 typically developing control subjects with comparable mean full-scale IQs. We compared rCBF values voxelwise across diagnostic groups and assessed correlations with symptom scores. We also assessed the moderating influences of participant age, sex, and IQ on our findings and the correlations of rCBF with N-acetylaspartate metabolite levels...
December 21, 2018: Biological Psychiatry
https://read.qxmd.com/read/30698656/overt-social-interaction-and-resting-state-in-young-adult-males-with-autism-core-and-contextual-neural-features
#10
Kyle Jasmin, Stephen J Gotts, Yisheng Xu, Siyuan Liu, Cameron D Riddell, John E Ingeholm, Lauren Kenworthy, Gregory L Wallace, Allen R Braun, Alex Martin
Conversation is an important and ubiquitous social behaviour. Individuals with autism spectrum disorder (autism) without intellectual disability often have normal structural language abilities but deficits in social aspects of communication like pragmatics, prosody, and eye contact. Previous studies of resting state activity suggest that intrinsic connections among neural circuits involved with social processing are disrupted in autism, but to date no neuroimaging study has examined neural activity during the most commonplace yet challenging social task: spontaneous conversation...
January 28, 2019: Brain: a Journal of Neurology
https://read.qxmd.com/read/30681228/transient-states-of-network-connectivity-are-atypical-in-autism-a-dynamic-functional-connectivity-study
#11
Lisa E Mash, Annika C Linke, Lindsay A Olson, Inna Fishman, Thomas T Liu, Ralph-Axel Müller
There is ample evidence of atypical functional connectivity (FC) in autism spectrum disorders (ASDs). However, transient relationships between neural networks cannot be captured by conventional static FC analyses. Dynamic FC (dFC) approaches have been used to identify repeating, transient connectivity patterns ("states"), revealing spatiotemporal network properties not observable in static FC. Recent studies have found atypical dFC in ASDs, but questions remain about the nature of group differences in transient connectivity, and the degree to which states persist or change over time...
January 25, 2019: Human Brain Mapping
https://read.qxmd.com/read/30679821/pathogenic-variants-in-usp7-cause-a-neurodevelopmental-disorder-with-speech-delays-altered-behavior-and-neurologic-anomalies
#12
Michael D Fountain, David S Oleson, Megan E Rech, Lara Segebrecht, Jill V Hunter, John M McCarthy, Philip J Lupo, Manuel Holtgrewe, Rocio Moran, Jill A Rosenfeld, Bertrand Isidor, Cédric Le Caignec, Margarita S Saenz, Robert C Pedersen, Thomas M Morgan, Jean P Pfotenhauer, Fan Xia, Weimin Bi, Sung-Hae L Kang, Ankita Patel, Ian D Krantz, Sarah E Raible, Wendy Smith, Ingrid Cristian, Erin Torti, Jane Juusola, Francisca Millan, Ingrid M Wentzensen, Richard E Person, Sébastien Küry, Stéphane Bézieau, Kévin Uguen, Claude Férec, Arnold Munnich, Mieke van Haelst, Klaske D Lichtenbelt, Koen van Gassen, Tanner Hagelstrom, Aditi Chawla, Denise L Perry, Ryan J Taft, Marilyn Jones, Diane Masser-Frye, David Dyment, Sunita Venkateswaran, Chumei Li, Luis F Escobar, Denise Horn, Rebecca C Spillmann, Loren Peña, Jolanta Wierzba, Tim M Strom, Ilaria Parenti, Frank J Kaiser, Nadja Ehmke, Christian P Schaaf
PURPOSE: Haploinsufficiency of USP7, located at chromosome 16p13.2, has recently been reported in seven individuals with neurodevelopmental phenotypes, including developmental delay/intellectual disability (DD/ID), autism spectrum disorder (ASD), seizures, and hypogonadism. Further, USP7 was identified to critically incorporate into the MAGEL2-USP7-TRIM27 (MUST), such that pathogenic variants in USP7 lead to altered endosomal F-actin polymerization and dysregulated protein recycling. METHODS: We report 16 newly identified individuals with heterozygous USP7 variants, identified by genome or exome sequencing or by chromosome microarray analysis...
January 25, 2019: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://read.qxmd.com/read/30673834/factors-affecting-epilepsy-prognosis-in-patients-with-tuberous-sclerosis
#13
Gülen Gül Mert, Şakir Altunbaşak, Özlem Hergüner, Faruk İncecik, Hilal Cansever Övetti, Neslihan Özcan, Duygu Kuşçu, İlker Ünal
PURPOSE: We aimed to determine the characteristics of epileptic seizures that significantly affect the cognitive functions of 83 patients followed with tuberous sclerosis complex (TSC), their resistance to treatment and risk factors causing this resistance. MATERIALS-METHODS: In order to determine the prognosis, the seizure-free/seizure-controlled group and the group with refractory seizures were compared. In addition, risk factors affecting cognitive functions in the patients were determined...
January 23, 2019: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://read.qxmd.com/read/30668849/reduced-white-matter-fiber-density-in-autism-spectrum-disorder
#14
Dennis Dimond, Manuela Schuetze, Robert E Smith, Thijs Dhollander, Ivy Cho, Sarah Vinette, Kayla Ten Eycke, Catherine Lebel, Adam McCrimmon, Deborah Dewey, Alan Connelly, Signe Bray
Differences in brain networks and underlying white matter abnormalities have been suggested to underlie symptoms of autism spectrum disorder (ASD). However, robustly characterizing microstructural white matter differences has been challenging. In the present study, we applied an analytic technique that calculates structural metrics specific to differently-oriented fiber bundles within a voxel, termed "fixels". Fixel-based analyses were used to compare diffusion-weighted magnetic resonance imaging data from 25 individuals with ASD (mean age = 16...
January 21, 2019: Cerebral Cortex
https://read.qxmd.com/read/30655503/setd5-haploinsufficiency-alters-neuronal-network-connectivity-and-leads-to-autistic-like-behaviors-in-mice
#15
Spencer M Moore, Jason S Seidman, Jacob Ellegood, Richard Gao, Alex Savchenko, Ty D Troutman, Yohei Abe, Josh Stender, Daehoon Lee, Sicong Wang, Bradley Voytek, Jason P Lerch, Hoonkyo Suh, Christopher K Glass, Alysson R Muotri
SETD5, a gene linked to intellectual disability (ID) and autism spectrum disorder (ASD), is a member of the SET-domain family and encodes a putative histone methyltransferase (HMT). To date, the mechanism by which SETD5 haploinsufficiency causes ASD/ID remains an unanswered question. Setd5 is the highly conserved mouse homolog, and although the Setd5 null mouse is embryonic lethal, the heterozygote is viable. Morphological tracing and multielectrode array was used on cultured cortical neurons. MRI was conducted of adult mouse brains and immunohistochemistry of juvenile mouse brains...
January 17, 2019: Translational Psychiatry
https://read.qxmd.com/read/30646371/evaluation-of-differences-in-temporal-synchrony-between-brain-regions-in-individuals-with-autism-and-typical-development
#16
Jace B King, Molly B D Prigge, Carolyn K King, Jubel Morgan, Douglas C Dean, Abigail Freeman, Joaquin Alfonso M Villaruz, Karen L Kane, Erin D Bigler, Andrew L Alexander, Nicholas Lange, Brandon A Zielinski, Janet E Lainhart, Jeffrey S Anderson
Importance: Despite reports of widespread but heterogeneous atypicality of functional connectivity in individuals with autism, little is known regarding the temporal dynamics of functional brain connections and how they relate to autistic traits. Objective: To investigate differences in temporal synchrony between brain regions in individuals with autism and those with typical development. Design, Setting, and Participants: This cohort study, conducted at the University of Utah, included 90 adolescent and adult male participants...
November 2, 2018: JAMA network open
https://read.qxmd.com/read/30627610/identifying-neuropsychiatric-disorders-using-unsupervised-clustering-methods-data-and-code
#17
Xinyu Zhao, D Rangaprakash, Thomas S Denney, Jeffrey S Katz, Michael N Dretsch, Gopikrishna Deshpande
This article provides data for five different neuropsychiatric disorders-Attention Deficit Hyperactivity Disorder, Alzheimer's Disease, Autism Spectrum Disorder, Post-Traumatic Stress Disorder, and Post-Concussion Syndrome-along with healthy controls. The data includes clinical diagnostic labels, phenotypic variables, and resting-state functional magnetic resonance imaging connectivity features obtained from individuals. In addition, it provides the source MATLAB codes used for data analyses. Three existing clustering methods have been incorporated into the provided code, which do not require a priori specification of the number of clusters...
February 2019: Data in Brief
https://read.qxmd.com/read/30624021/aberrant-deep-connectivity-in-autism-a-cortico-subcortical-functional-connectivity-magnetic-resonance-imaging-study
#18
Jose O Maximo, Rajesh K Kana
The number of studies examining functional brain networks in Autism Spectrum Disorder (ASD) has risen over the last decade and has characterized ASD as a disorder of altered brain connectivity. However, these studies have focused largely on cortical structures, and only a few studies have examined cortico-subcortical connectivity in regions like thalamus and basal ganglia in ASD. The goal of this study was to characterize the functional connectivity between cortex and subcortical regions in ASD using the Autism Brain Imaging Data Exchange (ABIDE-II)...
January 9, 2019: Autism Research: Official Journal of the International Society for Autism Research
https://read.qxmd.com/read/30617787/subclinical-eating-disorder-traits-are-correlated-with-cortical-thickness-in-regions-associated-with-food-reward-and-perception
#19
Gregory L Wallace, Emily Richard, Cynthia S Peng, Annchen R Knodt, Ahmad R Hariri
Behavioral traits associated with various forms of psychopathology are conceptualized as dimensional, varying from those present in a frank disorder to subclinical expression. Demonstrating links between these behavioral traits and neurobiological indicators, such as brain structure, provides one form of validation for this view. However, unlike behavioral dimensions associated with other forms of psychopathology (e.g., autism spectrum disorder, attention deficit hyperactivity disorder, antisocial disorders), eating disorder traits have not been investigated in this manner in spite of the potential that such an approach has to elucidate etiological mechanisms...
January 8, 2019: Brain Imaging and Behavior
https://read.qxmd.com/read/30608453/clinical-and-genetic-analysis-of-7-chinese-patients-with-%C3%AE-ureidopropionase-deficiency
#20
Yulian Fang, Chunquan Cai, Chao Wang, Bei Sun, Xinjie Zhang, Wenxuan Fan, Wenchao Hu, Yingtao Meng, Shuxiang Lin, Chunhua Zhang, Yuqin Zhang, Jianbo Shu
β-Ureidopropionase (βUP) deficiency is an autosomal recessive disease caused by abnormal changes in the pyrimidine-degradation pathway. This study aimed to investigate the mutation of β-ureidopropionase gene (UPB1) gene and clinical features of 7 Chinese patients with βUP deficiency.We reported 7 Chinese patients with βUP deficiency who were admitted at Tianjin Children's Hospital. Urine metabolomics was detected by gas chromatography-mass spectrometry (GC-MS). Then genetic testing of UPB1 was conducted by polymerase chain reaction (PCR) method...
January 2019: Medicine (Baltimore)
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