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Eva Loth, Declan G Murphy, Will Spooren
The tremendous clinical and etiological variability between individuals with autism spectrum disorder (ASD) has made precision medicine the most promising treatment approach. It aims to combine new pathophysiologically based treatments with objective tests (stratification biomarkers) to predict which treatment may be beneficial for a particular person. Here we discuss significant advances and current challenges for this approach: rare monogenic forms of ASD have provided a major breakthrough for the identification of treatment targets by providing a means to trace causal links from a gene to specific molecular alterations and biological pathways...
2016: Frontiers in Psychiatry
Keith W Dunaway, M Saharul Islam, Rochelle L Coulson, S Jesse Lopez, Annie Vogel Ciernia, Roy G Chu, Dag H Yasui, Isaac N Pessah, Paul Lott, Charles Mordaunt, Makiko Meguro-Horike, Shin-Ichi Horike, Ian Korf, Janine M LaSalle
Rare variants enriched for functions in chromatin regulation and neuronal synapses have been linked to autism. How chromatin and DNA methylation interact with environmental exposures at synaptic genes in autism etiologies is currently unclear. Using whole-genome bisulfite sequencing in brain tissue and a neuronal cell culture model carrying a 15q11.2-q13.3 maternal duplication, we find that significant global DNA hypomethylation is enriched over autism candidate genes and affects gene expression. The cumulative effect of multiple chromosomal duplications and exposure to the pervasive persistent organic pollutant PCB 95 altered methylation of more than 1,000 genes...
December 13, 2016: Cell Reports
Pegah Kassraian-Fard, Caroline Matthis, Joshua H Balsters, Marloes H Maathuis, Nicole Wenderoth
Most psychiatric disorders are associated with subtle alterations in brain function and are subject to large interindividual differences. Typically, the diagnosis of these disorders requires time-consuming behavioral assessments administered by a multidisciplinary team with extensive experience. While the application of Machine Learning classification methods (ML classifiers) to neuroimaging data has the potential to speed and simplify diagnosis of psychiatric disorders, the methods, assumptions, and analytical steps are currently opaque and not accessible to researchers and clinicians outside the field...
2016: Frontiers in Psychiatry
Shulamite A Green, Leanna Hernandez, Susan Y Bookheimer, Mirella Dapretto
OBJECTIVE: The salience network, an intrinsic brain network thought to modulate attention to internal versus external stimuli, has been consistently found to be atypical in autism spectrum disorders (ASD). However, little is known about how this altered resting-state connectivity relates to brain activity during information processing, which has important implications for understanding sensory overresponsivity (SOR), a common and impairing condition in ASD related to difficulty downregulating brain responses to sensory stimuli...
July 2016: Journal of the American Academy of Child and Adolescent Psychiatry
Elina Jokiranta-Olkoniemi, Keely Cheslack-Postava, Dan Sucksdorff, Auli Suominen, David Gyllenberg, Roshan Chudal, Susanna Leivonen, Mika Gissler, Alan S Brown, Andre Sourander
IMPORTANCE: Previous research has focused on examining the familial clustering of schizophrenia, bipolar disorder, and autism spectrum disorders (ASD). Little is known about the clustering of other psychiatric and neurodevelopmental disorders among siblings of persons with ASD. OBJECTIVE: To examine the risk for psychiatric and neurodevelopmental disorders among full siblings of probands with ASD. DESIGN, SETTING, AND PARTICIPANTS: The Finnish Prenatal Study of Autism and Autism Spectrum Disorders used a population-based cohort that included children born from January 1, 1987, to December 31, 2005, who received a diagnosis of ASD by December 31, 2007...
June 1, 2016: JAMA Psychiatry
Chen Yu, Linda B Smith
The ability to sustain attention is a major achievement in human development and is generally believed to be the developmental product of increasing self-regulatory and endogenous (i.e., internal, top-down, voluntary) control over one's attention and cognitive systems [1-5]. Because sustained attention in late infancy is predictive of future development, and because early deficits in sustained attention are markers for later diagnoses of attentional disorders [6], sustained attention is often viewed as a constitutional and individual property of the infant [6-9]...
May 9, 2016: Current Biology: CB
Balázs A Györffy, Péter Gulyássy, Barbara Gellén, Katalin Völgyi, Dóra Madarasi, Viktor Kis, Olivér Ozohanics, Ildikó Papp, Péter Kovács, Gert Lubec, Árpád Dobolyi, József Kardos, László Drahos, Gábor Juhász, Katalin A Kékesi
An increasing number of studies have revealed associations between pre- and perinatal immune activation and the development of schizophrenia and autism spectrum disorders (ASDs). Accordingly, neuroimmune crosstalk has a considerably large impact on brain development during early ontogenesis. While a plethora of heterogeneous abnormalities have already been described in established maternal immune activation (MIA) rodent and primate animal models, which highly correlate to those found in human diseases, the underlying molecular background remains obscure...
August 2016: Brain, Behavior, and Immunity
Sara Calderoni, Lucia Billeci, Antonio Narzisi, Paolo Brambilla, Alessandra Retico, Filippo Muratori
Clinical and research evidence supports the efficacy of rehabilitative intervention for improving targeted skills or global outcomes in individuals with autism spectrum disorder (ASD). However, putative mechanisms of structural and functional brain changes are poorly understood. This review aims to investigate the research literature on the neural circuit modifications after non-pharmacological intervention. For this purpose, longitudinal studies that used magnetic resonance imaging (MRI)-based techniques at the start and at the end of the trial to evaluate the neural effects of rehabilitative treatment in subjects with ASD were identified...
2016: Frontiers in Neuroscience
Elisabeth Kugelberg
No abstract text is available yet for this article.
April 2016: Nature Reviews. Immunology
Genevieve Konopka, Todd F Roberts
The use of vocalizations to communicate information and elaborate social bonds is an adaptation seen in many vertebrate species. Human speech is an extreme version of this pervasive form of communication. Unlike the vocalizations exhibited by the majority of land vertebrates, speech is a learned behavior requiring early sensory exposure and auditory feedback for its development and maintenance. Studies in humans and a small number of other species have provided insights into the neural and genetic basis for learned vocal communication and are helping to delineate the roles of brain circuits across the cortex, basal ganglia, and cerebellum in generating vocal behaviors...
March 10, 2016: Cell
Francesco Petrelli, Luca Pucci, Paola Bezzi
The cellular mechanism(s) underlying autism spectrum disorders (ASDs) are not fully understood although it has been shown that various genetic and environmental factors contribute to their etiology. As increasing evidence indicates that astrocytes and microglial cells play a major role in synapse maturation and function, and there is evidence of deficits in glial cell functions in ASDs, one current hypothesis is that glial dysfunctions directly contribute to their pathophysiology. The aim of this review is to summarize microglia and astrocyte functions in synapse development and their contributions to ASDs...
2016: Frontiers in Cellular Neuroscience
Marc V Fuccillo
Autism spectrum disorders (ASD) are characterized by two seemingly unrelated symptom domains-deficits in social interactions and restrictive, repetitive patterns of behavioral output. Whether the diverse nature of ASD symptomatology represents distributed dysfunction of brain networks or abnormalities within specific neural circuits is unclear. Striatal dysfunction is postulated to underlie the repetitive motor behaviors seen in ASD, and neurological and brain-imaging studies have supported this assumption...
2016: Frontiers in Neuroscience
Katarzyna Chawarska, Suzanne Macari, Kelly Powell, Lauren DiNicola, Frederick Shic
OBJECTIVE: Sexual dimorphism in autism spectrum disorders (ASD) is a well-recognized but poorly understood phenomenon. Females are four times less likely to be diagnosed with ASD than males and, when diagnosed, are more likely to exhibit comorbid anxiety symptoms. One of the key phenotypic features of ASD is atypical attention to socially relevant stimuli. Eye-tracking studies indicate atypical patterns of spontaneous social orienting during the prodromal and early syndromic stages of ASD...
March 2016: Journal of the American Academy of Child and Adolescent Psychiatry
Marco Catani, Flavio Dell'Acqua, Sanja Budisavljevic, Henrietta Howells, Michel Thiebaut de Schotten, Seán Froudist-Walsh, Lucio D'Anna, Abigail Thompson, Stefano Sandrone, Edward T Bullmore, John Suckling, Simon Baron-Cohen, Michael V Lombardo, Sally J Wheelwright, Bhismadev Chakrabarti, Meng-Chuan Lai, Amber N V Ruigrok, Alexander Leemans, Christine Ecker, Mrc Aims Consortium, Michael C Craig, Declan G M Murphy
It has been postulated that autism spectrum disorder is underpinned by an 'atypical connectivity' involving higher-order association brain regions. To test this hypothesis in a large cohort of adults with autism spectrum disorder we compared the white matter networks of 61 adult males with autism spectrum disorder and 61 neurotypical controls, using two complementary approaches to diffusion tensor magnetic resonance imaging. First, we applied tract-based spatial statistics, a 'whole brain' non-hypothesis driven method, to identify differences in white matter networks in adults with autism spectrum disorder...
February 2016: Brain: a Journal of Neurology
Peter Szatmari, Katarzyna Chawarska, Geraldine Dawson, Stelios Georgiades, Rebecca Landa, Catherine Lord, Daniel S Messinger, Audrey Thurm, Alycia Halladay
OBJECTIVE: The objectives of this review are to highlight the impact of the first decade of high-risk (HR) infant sibling work in autism spectrum disorder (ASD) and to identify potential areas of translational focus for the next decade of research. METHOD: A group of clinicians and researchers in ASD working both inside and outside of the HR design met on a regular basis to review the infant sibling research, and came to an agreement on areas that had changed clinical practice and areas that had the potential to change practice with further research...
March 2016: Journal of the American Academy of Child and Adolescent Psychiatry
Geraldine Dawson
No abstract text is available yet for this article.
June 1, 2016: JAMA Pediatrics
Darren Hedley
No abstract text is available yet for this article.
January 2016: Journal of Pediatrics
Maya Yaari, Neta Yitzhak, Ayelet Harel, Edwa Friedlander, Benjamin Bar-Oz, Smadar Eventov-Friedman, David Mankuta, Ifat Gamliel, Nurit Yirmiya
Stability and change in early autism spectrum disorder risk were examined in a cohort of 99 preterm infants (⩽34 weeks of gestation) using the Autism Observation Scale for Infants at 8 and 12 months and the Autism Diagnostic Observation Schedule-Toddler Module at 18 months. A total of 21 infants were identified at risk by the Autism Observation Scale for Infants at 8 months, and 9 were identified at risk at 12 months, including 4 children who were not previously identified. At 18 months, eight children were identified at risk for autism spectrum disorder using the Autism Diagnostic Observation Schedule-Toddler Module, only half of whom had been identified using the original Autism Observation Scale for Infants cutoffs...
October 2016: Autism: the International Journal of Research and Practice
Micah O Mazurek, Kristin Sohl
Children with autism spectrum disorder (ASD) are at high risk for sleep disturbance and behavioral dysregulation. However, the relationships between these difficulties are not fully understood. The current study examined the relationships between specific types of sleep and behavioral problems among 81 children with ASD. Sleep problems were significantly associated with physical aggression, irritability, inattention, and hyperactivity. In multivariate analyses, distinct sets of sleep problems accounted for between 22 and 32 % of the variance in behavior problems across models...
June 2016: Journal of Autism and Developmental Disorders
Annika Rausch, Wei Zhang, Koen V Haak, Maarten Mennes, Erno J Hermans, Erik van Oort, Guido van Wingen, Christian F Beckmann, Jan K Buitelaar, Wouter B Groen
BACKGROUND: Amygdala dysfunction is hypothesized to underlie the social deficits observed in autism spectrum disorders (ASD). However, the neurobiological basis of this hypothesis is underspecified because it is unknown whether ASD relates to abnormalities of the amygdaloid input or output nuclei. Here, we investigated the functional connectivity of the amygdaloid social-perceptual input nuclei and emotion-regulation output nuclei in ASD versus controls. METHODS: We collected resting state functional magnetic resonance imaging (fMRI) data, tailored to provide optimal sensitivity in the amygdala as well as the neocortex, in 20 adolescents and young adults with ASD and 25 matched controls...
2016: Molecular Autism
2016-02-12 18:57:23
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