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https://www.readbyqxmd.com/read/30546152/the-yield-of-structural-magnetic-resonance-imaging-in-autism-spectrum-disorders
#1
Jiri Lisy, Andrea Efremova, Michal Hrdlicka
AIMS: The aim of our study was to assess the yield of routine brain magnetic resonance imaging (MRI) performed at our hospital as part of the diagnostic procedures focused on autism. METHODS: Our retrospective study involved children who had attended a diagnostic examination focused on autism and underwent brain MRIs between 1998-2015. The International Classification of Diseases, 10th edition was used to make clinical diagnoses. In 489 children (404 boys, 85 girls; mean age 8...
December 11, 2018: Biomedical Papers of the Medical Faculty of the University Palacký, Olomouc, Czechoslovakia
https://www.readbyqxmd.com/read/30543119/revisiting-abnormalities-in-brain-network-architecture-underlying-autism-using-topology-inspired-statistical-inference
#2
Sourabh Pradeep Palande, Vipin Jose, Brandon A Zielinski, Jeffrey S Anderson, P Thomas Fletcher, Bei Wang
A large body of evidence relates autism with abnormal structural and functional brain connectivity. Structural covariance MRI (scMRI) is a technique that maps brain regions with covarying gray matter density across subjects. It provides a way to probe the anatomical structure underlying intrinsic connectivity networks (ICNs) through the analysis of gray matter signal covariance. In this paper, we apply topological data analysis in conjunction with scMRI to explore network-specific differences in the gray matter structure in subjects with autism versus age-, gender- and IQ-matched controls...
December 13, 2018: Brain Connectivity
https://www.readbyqxmd.com/read/30542259/imbalance-of-functional-connectivity-and-temporal-entropy-in-resting-state-networks-in-autism-spectrum-disorder-a-machine-learning-approach
#3
Robert X Smith, Kay Jann, Mirella Dapretto, Danny J J Wang
Background: Two approaches to understanding the etiology of neurodevelopmental disorders such as Autism Spectrum Disorder (ASD) involve network level functional connectivity (FC) and the dynamics of neuronal signaling. The former approach has revealed both increased and decreased FC in individuals with ASD. The latter approach has found high frequency EEG oscillations and higher levels of epilepsy in children with ASD. Together, these findings have led to the hypothesis that atypical excitatory-inhibitory neural signaling may lead to imbalanced association pathways...
2018: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/30541864/-syngap1-encephalopathy-a-distinctive-generalized-developmental-and-epileptic-encephalopathy
#4
Danique R M Vlaskamp, Benjamin J Shaw, Rosemary Burgess, Davide Mei, Martino Montomoli, Han Xie, Candace T Myers, Mark F Bennett, Wenshu XiangWei, Danielle Williams, Saskia M Maas, Alice S Brooks, Grazia M S Mancini, Ingrid M B H van de Laar, Johanna M van Hagen, Tyson L Ware, Richard I Webster, Stephen Malone, Samuel F Berkovic, Renate M Kalnins, Federico Sicca, G Christoph Korenke, Conny M A van Ravenswaaij-Arts, Michael S Hildebrand, Heather C Mefford, Yuwu Jiang, Renzo Guerrini, Ingrid E Scheffer
OBJECTIVE: To delineate the epileptology, a key part of the SYNGAP1 phenotypic spectrum, in a large patient cohort. METHODS: Patients were recruited via investigators' practices or social media. We included patients with (likely) pathogenic SYNGAP1 variants or chromosome 6p21.32 microdeletions incorporating SYNGAP1 . We analyzed patients' phenotypes using a standardized epilepsy questionnaire, medical records, EEG, MRI, and seizure videos. RESULTS: We included 57 patients (53% male, median age 8 years) with SYNGAP1 mutations (n = 53) or microdeletions (n = 4)...
December 12, 2018: Neurology
https://www.readbyqxmd.com/read/30541429/cerebrospinal-fluid-and-the-early-brain-development-of-autism
#5
REVIEW
Mark D Shen
BACKGROUND: There is currently a renaissance of interest in the many functions of cerebrospinal fluid (CSF). Altered flow of CSF, for example, has been shown to impair the clearance of pathogenic inflammatory proteins involved in neurodegenerative diseases, such as amyloid-β. In addition, the role of CSF in the newly discovered lymphatic system of the brain has become a prominently researched area in clinical neuroscience, as CSF serves as a conduit between the central nervous system and immune system...
December 13, 2018: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/30541425/arterial-spin-labeling-provides-a-reliable-neurobiological-marker-of-autism-spectrum-disorder
#6
Benjamin E Yerys, John D Herrington, Gregory K Bartley, Hua-Shan Liu, John A Detre, Robert T Schultz
BACKGROUND: Research on neurobiological markers of autism spectrum disorder (ASD) has been elusive. However, radionuclide studies of cerebral blood flow (CBF) have shown decreased blood flow (hypoperfusion) in the temporal lobes of individuals with ASD across ages and intelligence. This observation fits with current neuroscientific models that implicate temporal regions in social perception and social cognition. Arterial spin labeled perfusion MRI allows noninvasive quantification of regional CBF as part of a multimodal MRI protocol...
December 13, 2018: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/30534065/support-vector-machines-multidimensional-scaling-and-magnetic-resonance-imaging-reveal-structural-brain-abnormalities-associated-with-the-interaction-between-autism-spectrum-disorder-and-sex
#7
Andrei Irimia, Xiaoyu Lei, Carinna M Torgerson, Zachary J Jacokes, Sumiko Abe, John D Van Horn
Despite substantial efforts, it remains difficult to identify reliable neuroanatomic biomarkers of autism spectrum disorder (ASD) based on magnetic resonance imaging (MRI) and diffusion tensor imaging (DTI). Studies which use standard statistical methods to approach this task have been hampered by numerous challenges, many of which are innate to the mathematical formulation and assumptions of general linear models (GLM). Although the potential of alternative approaches such as machine learning (ML) to identify robust neuroanatomic correlates of psychiatric disease has long been acknowledged, few studies have attempted to evaluate the abilities of ML to identify structural brain abnormalities associated with ASD...
2018: Frontiers in Computational Neuroscience
https://www.readbyqxmd.com/read/30528446/clinical-spectrum-of-pten-mutation-in-pediatric-patients-a-bicenter-experience
#8
Claudia Ciaccio, Veronica Saletti, Stefano D'Arrigo, Silvia Esposito, Enrico Alfei, Isabella Moroni, Davide Tonduti, Luisa Chiapparini, Chiara Pantaleoni, Donatella Milani
OBJECTIVE OF THE STUDY: To give a full overview of the clinical presentation of PTEN mutations in pediatric patients and to propose a pediatric follow-up protocol. METHODS: Recruitment of 16 PTEN mutated children (age 6 months-11 years) from two pediatric centers in Milan (Italy) between 2006 and 2017. All the patients underwent clinical and neurologic evaluations, cognitive and behavioral tests, and brain MRI; they are currently following an oncologic follow-up...
December 4, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/30526115/functional-connection-between-the-stereotyped-behavior-and-the-motor-front-area-in-children-with-autism
#9
Ming-Xia Huang, Xiao-Hui Liu, Zeng-Jun Zhang, Chao Chen, Dong Wang, Xin Hou, Hua Chen, Kun Xia
OBJECT: Autism spectrum disorders (ASD) is characterized by stereotyped behavior, attention deficit and/or impaired sensory perception to external stimuli. Its neurobiological mechanisms remain unclear. In this study we examined the resting-state functional connectivity of the premotor area and investigated its correlation with behavioral variables to determine whether connectivity alterations can distinguish ASD from healthy controls. METHODS: 39 children with ASD and 42 healthy children with matched age, sex and intelligence were recruited...
December 11, 2018: British Journal of Neurosurgery
https://www.readbyqxmd.com/read/30508806/predictive-connectome-subnetwork-extraction-with-anatomical-and-connectivity-priors
#10
Colin J Brown, Steven P Miller, Brian G Booth, Jill G Zwicker, Ruth E Grunau, Anne R Synnes, Vann Chau, Ghassan Hamarneh
We present a new method to identify anatomical subnetworks of the human connectome that are optimally predictive of targeted clinical variables, developmental outcomes or disease states. Given a training set of structural or functional brain networks, derived from diffusion MRI (dMRI) or functional MRI (fMRI) scans respectively, our sparse linear regression model extracts a weighted subnetwork. By enforcing novel backbone network and connectivity based priors along with a non-negativity constraint, the discovered subnetworks are simultaneously anatomically plausible, well connected, positively weighted and reasonably sparse...
August 25, 2018: Computerized Medical Imaging and Graphics: the Official Journal of the Computerized Medical Imaging Society
https://www.readbyqxmd.com/read/30463616/the-italian-autism-network-itan-a-resource-for-molecular-genetics-and-biomarker-investigations
#11
Pierandrea Muglia, Michele Filosi, Lucio Da Ros, Tony Kam-Thong, Franco Nardocci, Elisabetta Trabetti, Emiliangelo Ratti, Paolo Rizzini, Alessandro Zuddas, Bernardo Dalla Bernardina, Enrico Domenici
BACKGROUND: A substantial genetic component accounts for Autism Spectrum Disorders (ASD) aetiology, with some rare and common genetic risk factors recently identified. Large collections of DNAs from thoroughly characterized ASD families are an essential step to confirm genetic risk factors, identify new variants and investigate genotype-phenotype correlations. The Italian Autism Network aimed at constituting a clinical database and a biorepository of samples derived from ASD subjects and first-degree relatives extensively and consistently characterized by child psychiatry centers in Italy...
November 21, 2018: BMC Psychiatry
https://www.readbyqxmd.com/read/30461592/focal-electrographic-seizures-in-a-patient-with-autism-spectrum-disorder-and-speech-delay
#12
Kathryn Idol Xixis, Ashley Ham, Adam Farmer, Angie Allman, Marilyn Augustyn
A 6-year-old boy with a diagnosis of autism spectrum disorder (ASD) presented to primary care for a new-patient, transfer-of-care evaluation. At the initial encounter, the patient used a maximum of 60 words and was receiving speech and language therapy (SLT) through school. Family history was positive for seizures in the father and paternal grandfather as well as ASD in an older brother. Referrals to genetics, private SLT, and an autism specialist were offered, although the latter was declined by family. The subsequent genetics evaluation resulted in discovery of a small gain on chromosome 1q42...
November 19, 2018: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/30459585/unsupervised-manifold-learning-using-high-order-morphological-brain-networks-derived-from-t1-w-mri-for-autism-diagnosis
#13
Mayssa Soussia, Islem Rekik
Brain disorders, such as Autism Spectrum Disorder (ASD), alter brain functional (from fMRI) and structural (from diffusion MRI) connectivities at multiple levels and in varying degrees. While unraveling such alterations have been the focus of a large number of studies, morphological brain connectivity has been out of the research scope. In particular, shape-to-shape relationships across brain regions of interest (ROIs) were rarely investigated. As such, the use of networks based on morphological brain data in neurological disorder diagnosis, while leveraging the advent of machine learning, could complement our knowledge on brain wiring alterations in unprecedented ways...
2018: Frontiers in Neuroinformatics
https://www.readbyqxmd.com/read/30450494/early-diagnosis-of-autism-disease-by-multi-channel-cnns
#14
Guannan Li, Mingxia Liu, Quansen Sun, Dinggang Shen, Li Wang
Currently there are still no early biomarkers to detect infants with risk of autism spectrum disorder (ASD), which is mainly diagnosed based on behavior observations at three or four years old. Since intervention efforts may miss a critical developmental window after 2 years old, it is significant to identify imaging-based biomarkers for early diagnosis of ASD. Although some methods using magnetic resonance imaging (MRI) for brain disease prediction have been proposed in the last decade, few of them were developed for predicting ASD in early age...
September 2018: Machine Learning in Medical Imaging
https://www.readbyqxmd.com/read/30446637/developmental-changes-of-cortical-white-gray-contrast-as-predictors-of-autism-diagnosis-and-severity
#15
Gleb Bezgin, John D Lewis, Alan C Evans
Recent studies suggest that both cortical gray and white-matter microstructural characteristics are distinct for subjects with autism. There is a lack of evidence regarding how these characteristics change in a developmental context. We analysed a longitudinal/cross-sectional dataset of 402 magnetic resonance imaging (MRI) scans (171 subjects with autism and 231 with typical development) from the Autism Brain Imaging Data Exchange, cohorts I-II (ABIDE-I-II). In the longitudinal sample, we computed the rate of change in the white-gray contrast, a measure which has been related to age and cognitive performance, at the boundary of the cerebral cortex...
November 16, 2018: Translational Psychiatry
https://www.readbyqxmd.com/read/30430147/volume-based-analysis-of-6-month-old-infant-brain-mri-for-autism-biomarker-identification-and-early-diagnosis
#16
Li Wang, Gang Li, Feng Shi, Xiaohuan Cao, Chunfeng Lian, Dong Nie, Mingxia Liu, Han Zhang, Guannan Li, Zhengwang Wu, Weili Lin, Dinggang Shen
Autism spectrum disorder (ASD) is mainly diagnosed by the observation of core behavioral symptoms. Due to the absence of early biomarkers to detect infants either with or at-risk of ASD during the first postnatal year of life, diagnosis must rely on behavioral observations long after birth. As a result, the window of opportunity for effective intervention may have passed when the disorder is detected. Therefore, it is clinically urgent to identify imaging-based biomarkers for early diagnosis and intervention...
September 2018: Medical Image Computing and Computer-assisted Intervention: MICCAI ..
https://www.readbyqxmd.com/read/30423029/local-structural-connectivity-is-associated-with-social-cognition-in-autism-spectrum-disorder
#17
Marc-Antoine d'Albis, Pamela Guevara, Miguel Guevara, Charles Laidi, Jennifer Boisgontier, Samuel Sarrazin, Delphine Duclap, Richard Delorme, Federico Bolognani, Christian Czech, Céline Bouquet, Myriam Ly-Le Moal, Stefan Holiga, Anouck Amestoy, Isabelle Scheid, Alexandru Gaman, Marion Leboyer, Cyril Poupon, Jean-François Mangin, Josselin Houenou
The current theory implying local, short-range overconnectivity in autism spectrum disorder, contrasting with long-range underconnectivity, is based on heterogeneous results, on limited data involving functional connectivity studies, on heterogeneous paediatric populations and non-specific methodologies. In this work, we studied short-distance structural connectivity in a homogeneous population of males with high-functioning autism spectrum disorder and used a novel methodology specifically suited for assessing U-shaped short-distance tracts, including a recently developed tractography-based atlas of the superficial white matter fibres...
December 1, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/30416116/-what-is-the-core-symptom-and-neural-mechanism-of-asperger-syndrome-from-our-ten-years-of-clinical-observation-of-adults-with-autism-spectrum-disorder
#18
Haruhisa Ohta, Kazuyo Tanji, Ryu-Ichiro Hashimoto, Nobumasa Kato
In 2008, we launched a new outpatient clinic and day care service designed exclusively for adults with autism spectrum disorder (ASD). Since then, more than 6000 people visited our facility. We have also launched the Medical Institute for Developmental Disabilities Research (MIDDR) at Showa University, where neuroimaging studies with a 3.0 Tesla MRI scanner and rehabilitation studies intended to support people with ASD for job seeking were conducted for the past five years. As our subjects were found to have normal or high intelligence, we present here our research studies on Asperger syndrome patients with the focus on their resting-state functional connectivity network...
November 2018: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://www.readbyqxmd.com/read/30327586/alpha-waves-as-a-neuromarker-of-autism-spectrum-disorder-the-challenge-of-reproducibility-and-heterogeneity
#19
Aline Lefebvre, Richard Delorme, Catherine Delanoë, Frederique Amsellem, Anita Beggiato, David Germanaud, Thomas Bourgeron, Roberto Toro, Guillaume Dumas
Background: There is no consensus in the literature concerning the presence of abnormal alpha wave profiles in patients with autism spectrum disorder (ASD). This may be due to phenotypic heterogeneity among patients as well as the limited sample sizes utilized. Here we present our results of alpha wave profile analysis based on a sample larger than most of those in the field, performed using a robust processing pipeline. Methods: We compared the alpha waves profiles at rest in children with ASD to those of age-, sex-, and IQ-matched control individuals...
2018: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/30324796/high-prevalence-of-syndromic-disorders-in-patients-with-non-isolated-central-precocious-puberty
#20
Selmen Wannes, Monique Elmaleh-Bergès, Dominique Simon, Delphine Zénaty, Laetitia Martinerie, Caroline Storey, Georges Gelwane, Anne Paulsen, Emmanuel Ecosse, Nicolas De Roux, Jean Claude Carel, Juliane Léger
Objective Non-idiopathic CPP is caused by acquired or congenital hypothalamic lesions visible on MRI or is associated with various complex genetic and/or syndromic disorders. This study investigated the different types and prevalence of non-isolated CPP phenotypes. Design and Methods This observational cohort study included all patients identified as having non-idiopathic CPP in the database of a single academic pediatric care center over a period of 11.5 years. Patients were classified on the basis of MRI findings for the CNS as having either hypothalamic lesions or complex syndromic phenotypes without structural lesions of the hypothalamus...
December 1, 2018: European Journal of Endocrinology
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