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Autistic Disorder: HELP
Articles from Minnesota
Based on 78 articles published since 2008
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These are the 78 published articles about Autistic Disorder that originated from Minnesota during 2008-2019.
 
+ Citations + Abstracts
Pages: 1 · 2 · 3 · 4
1 Review Toward a conceptual framework for early brain and behavior development in autism. 2017

Piven, J / Elison, J T / Zylka, M J. ·Carolina Institute for Developmental Disabilities, The University of North Carolina, Chapel Hill, NC, USA. · Department of Psychiatry, The University of North Carolina, Chapel Hill, NC, USA. · Institute of Child Development and Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA. · Department of Cell Biology and Physiology, and UNC Neuroscience Center, The University of North Carolina, Chapel Hill, NC, USA. ·Mol Psychiatry · Pubmed #28937691.

ABSTRACT: Studies of infant siblings of older autistic probands, who are at elevated risk for autism, have demonstrated that the defining features of autism are not present in the first year of life but emerge late in the first and into the second year. A recent longitudinal neuroimaging study of high-risk siblings revealed a specific pattern of brain development in infants later diagnosed with autism, characterized by cortical surface area hyper-expansion in the first year followed by brain volume overgrowth in the second year that is associated with the emergence of autistic social deficits. Together with new observations from genetically defined autism risk alleles and rodent model, these findings suggest a conceptual framework for the early, post-natal development of autism. This framework postulates that an increase in the proliferation of neural progenitor cells and hyper-expansion of cortical surface area in the first year, occurring during a pre-symptomatic period characterized by disrupted sensorimotor and attentional experience, leads to altered experience-dependent neuronal development and decreased elimination of neuronal processes. This process is linked to brain volume overgrowth and disruption of the refinement of neural circuit connections and is associated with the emergence of autistic social deficits in the second year of life. A better understanding of the timing of developmental brain and behavior mechanisms in autism during infancy, a period which precedes the emergence of the defining features of this disorder, will likely have important implications for designing rational approaches to early intervention.

2 Review Understanding autism and other neurodevelopmental disorders through experimental translational neurobehavioral models. 2016

Homberg, Judith R / Kyzar, Evan J / Nguyen, Michael / Norton, William H / Pittman, Julian / Poudel, Manoj K / Gaikwad, Siddharth / Nakamura, Shun / Koshiba, Mamiko / Yamanouchi, Hideo / Scattoni, Maria Luisa / Ullman, Jeremy F P / Diamond, David M / Kaluyeva, Aleksandra A / Parker, Matthew O / Klimenko, Victor M / Apryatin, Sergey A / Brown, Richard E / Song, Cai / Gainetdinov, Raul R / Gottesman, Irving I / Kalueff, Allan V. ·Department of Cognitive Neuroscience, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Centre, Nijmegen, Netherlands. · Department of Psychiatry, College of Medicine, University of Illinois at Chicago, Chicago, IL, USA; The International Stress and Behavior Society (ISBS) and ZENEREI Research Center, Slidell, LA, USA. · The International Stress and Behavior Society (ISBS) and ZENEREI Research Center, Slidell, LA, USA; New York University School of Medicine, NY, NY, USA. · Department of Biology, University of Leicester, Leicester, UK. · Department of Biological and Environmental Sciences, Troy University, Troy, AL, USA. · The International Stress and Behavior Society (ISBS) and ZENEREI Research Center, Slidell, LA, USA. · Tokyo University of Agriculture and Technology, Tokyo, Japan. · Departments of Pediatrics and Biochemistry, Saitama Medical University, Saitama, Japan. · Department of Cell Biology and Neurosciences, Istituto Superiore di Sanita, Rome, Italy. · Centre for Advanced Imaging, University of Queensland, Brisbane, Queensland, Australia. · Department of Psychology, University of South Florida, Tampa, FL, USA; J.A. Haley Veterans Hospital, Research and Development Service, Tampa, FL, USA. · School of Health Sciences and Social Work, University of Portsmouth, Portsmouth, UK. · Pavlov Physiology Department, Institute of Experimental Medicine IEM RAS, St. Petersburg, Russia. · Research Institute of Nutrition RAS, Moscow, Russia. · Department of Psychology and Neuroscience, Dalhousie University, Halifax, Nova Scotia, Canada. · Department of Psychology and Neuroscience, Dalhousie University, Halifax, Nova Scotia, Canada; Research Institute of Marine Drugs and Nutrition, College of Food Science and Technology, Guangdong Ocean University, Zhanjiang, Guangdong, China; Graduate Neuroscience Institute, China Medical University Hospital, Taichung, Taiwan. · Institute of Translational Biomedicine, St. Petersburg State University, St. Petersburg, Russia; Skolkovo Institute of Science and Technology, Skolkovo, Moscow Region, Russia. · Department of Psychology, University of Minnesota, Minneapolis, MN, USA. · Research Institute of Marine Drugs and Nutrition, College of Food Science and Technology, Guangdong Ocean University, Zhanjiang, Guangdong, China; Institute of Translational Biomedicine, St. Petersburg State University, St. Petersburg, Russia; Institutes of Chemical Technology and Natural Sciences, Ural Federal University, Ekaterinburg, Russia. Electronic address: avkalueff@gmail.com. ·Neurosci Biobehav Rev · Pubmed #27048961.

ABSTRACT: Neurodevelopmental disorders (NDDs) are highly prevalent and severely debilitating brain illnesses caused by aberrant brain growth and development. Resulting in cognitive, social, motor, language and affective disabilities, common NDDs include autism spectrum disorder (ASD), intellectual disability, communication/speech disorders, motor/tic disorders and attention deficit hyperactivity disorder. Affecting neurogenesis, glia/neuronal proliferation and migration, synapse formation and myelination, aberrant neural development occurs over a substantial period of time. Genetic, epigenetic, and environmental factors play a key role in NDD pathogenesis. Animal models are an indispensable tool to study NDDs. Paralleling clinical findings, we comprehensively evaluate various preclinical tests and models which target key (social, cognitive, motor) neurobehavioral domains of ASD and other common NDDs. Covering both traditional (rodent) and alternative NDD models, we outline the emerging areas of research and emphasize how preclinical models play a key role in gaining translational and mechanistic insights into NDDs and their therapy.

3 Review GABA receptor subunit distribution and FMRP-mGluR5 signaling abnormalities in the cerebellum of subjects with schizophrenia, mood disorders, and autism. 2015

Fatemi, S Hossein / Folsom, Timothy D. ·Department of Psychiatry, Division of Neuroscience Research, University of Minnesota Medical School, 420 Delaware St SE, MMC 392, Minneapolis, MN 55455, USA; Department of Neuroscience, University of Minnesota Medical School, 321 Church St. SE, Minneapolis, MN 55455, USA. Electronic address: fatem002@umn.edu. · Department of Psychiatry, Division of Neuroscience Research, University of Minnesota Medical School, 420 Delaware St SE, MMC 392, Minneapolis, MN 55455, USA. Electronic address: folso013@umn.edu. ·Schizophr Res · Pubmed #25432637.

ABSTRACT: Gamma-aminobutyric acid (GABA) is the main inhibitory neurotransmitter in the brain. GABAergic receptor abnormalities have been documented in several major psychiatric disorders including schizophrenia, mood disorders, and autism. Abnormal expression of mRNA and protein for multiple GABA receptors has also been observed in multiple brain regions leading to alterations in the balance between excitatory/inhibitory signaling in the brain with potential profound consequences for normal cognition and maintenance of mood and perception. Altered expression of GABAA receptor subunits has been documented in fragile X mental retardation 1 (FMR1) knockout mice, suggesting that loss of its protein product, fragile X mental retardation protein (FMRP), impacts GABAA subunit expression. Recent postmortem studies from our laboratory have shown reduced expression of FMRP in the brains of subjects with schizophrenia, bipolar disorder, major depression, and autism. FMRP acts as a translational repressor and, under normal conditions, inhibits metabotropic glutamate receptor 5 (mGluR5)-mediated signaling. In fragile X syndrome (FXS), the absence of FMRP is hypothesized to lead to unregulated mGluR5 signaling, ultimately resulting in the behavioral and intellectual impairments associated with this disorder. Our laboratory has identified changes in mGluR5 expression in autism, schizophrenia, and mood disorders. In the current review article, we discuss our postmortem data on GABA receptors, FMRP, and mGluR5 levels and compare our results with other laboratories. Finally, we discuss the interactions between these molecules and the potential for new therapeutic interventions that target these interconnected signaling systems.

4 Review Autism research and services for young children: history, progress and challenges. 2013

Thompson, Travis. ·Special Education Program, Department of Educational Psychology, University of Minnesota, Minneapolis, MN, USA. thomp199@umn.edu ·J Appl Res Intellect Disabil · Pubmed #23404617.

ABSTRACT: For three decades after Leo Kanner's first clinical description, research progress in understanding and treating autism was minimal but since the late 1960s the growth of autism discoveries has been exponential, with a remarkable number of new findings published over the past two decades, in particular. These advances were made possible first by the discovery and dissemination of early intensive behavioural intervention (EIBI) for young children with autism that created the impetus for earlier accurate diagnosis. Other factors influencing the rapid growth in autism research were the first accepted diagnostic test for autism, the Autism Diagnostic Interview and Observation Schedule (ADI and ADOS). Developments in brain imaging and genetic technology combined to create a fuller understanding of the heterogeneity of autism, its multiple aetiologies, very early onset and course, and strategies for treatment. For a significant proportion of children with autism, it appears EIBI may be capable of promoting brain connectivity in specific cerebral areas, which is one of autism's underlying challenges. Disagreements about the most appropriate early intervention approach between developmental and behavioural psychologists have been unproductive and not contributed to advancing the field. Naturalistic behavioural and structured discrete trial methods are being integrated with developmental strategies with promising outcomes. Over these past 30 years, young people with autism have gone from receiving essentially no proactive treatment, resulting in lives languishing in institutions, to today, when half of children receiving EIBI treatment subsequently participate in regular classrooms alongside their peers. The future has entirely changed for young people with autism. Autism has become an eminently treatable condition. The time is overdue to set aside philosophical quarrels regarding theories of child development and apply what we know for the benefit of children with autism and their families.

5 Review The involvement of Reelin in neurodevelopmental disorders. 2013

Folsom, Timothy D / Fatemi, S Hossein. ·Department of Psychiatry, Division of Neuroscience Research, University of Minnesota Medical School, 420 Delaware St. SE, MMC 392, Minneapolis, MN 55455, USA. folso013@umn.edu ·Neuropharmacology · Pubmed #22981949.

ABSTRACT: Reelin is a glycoprotein that serves important roles both during development (regulation of neuronal migration and brain lamination) and in adulthood (maintenance of synaptic function). A number of neuropsychiatric disorders including autism, schizophrenia, bipolar disorder, major depression, Alzheimer's disease and lissencephaly share a common feature of abnormal Reelin expression in the brain. Altered Reelin expression has been hypothesized to impair neuronal connectivity and synaptic plasticity, leading ultimately to the cognitive deficits present in these disorders. The mechanisms for abnormal Reelin expression in some of these disorders are currently unknown although possible explanations include early developmental insults, mutations, hypermethylation of the promoter for the Reelin gene (RELN), miRNA silencing of Reelin mRNA, FMRP underexpression and Reelin processing abnormalities. Increasing Reelin expression through pharmacological therapies may help ameliorate symptoms resulting from Reelin deficits. This article is part of the Special Issue entitled 'Neurodevelopmental Disorders'.

6 Review Consensus paper: pathological role of the cerebellum in autism. 2012

Fatemi, S Hossein / Aldinger, Kimberly A / Ashwood, Paul / Bauman, Margaret L / Blaha, Charles D / Blatt, Gene J / Chauhan, Abha / Chauhan, Ved / Dager, Stephen R / Dickson, Price E / Estes, Annette M / Goldowitz, Dan / Heck, Detlef H / Kemper, Thomas L / King, Bryan H / Martin, Loren A / Millen, Kathleen J / Mittleman, Guy / Mosconi, Matthew W / Persico, Antonio M / Sweeney, John A / Webb, Sara J / Welsh, John P. ·University of Minnesota Medical School, 420 Delaware St. SE, Minneapolis, MN 55455, USA. fatem002@umn.edu ·Cerebellum · Pubmed #22370873.

ABSTRACT: There has been significant advancement in various aspects of scientific knowledge concerning the role of cerebellum in the etiopathogenesis of autism. In the current consensus paper, we will observe the diversity of opinions regarding the involvement of this important site in the pathology of autism. Recent emergent findings in literature related to cerebellar involvement in autism are discussed, including: cerebellar pathology, cerebellar imaging and symptom expression in autism, cerebellar genetics, cerebellar immune function, oxidative stress and mitochondrial dysfunction, GABAergic and glutamatergic systems, cholinergic, dopaminergic, serotonergic, and oxytocin-related changes in autism, motor control and cognitive deficits, cerebellar coordination of movements and cognition, gene-environment interactions, therapeutics in autism, and relevant animal models of autism. Points of consensus include presence of abnormal cerebellar anatomy, abnormal neurotransmitter systems, oxidative stress, cerebellar motor and cognitive deficits, and neuroinflammation in subjects with autism. Undefined areas or areas requiring further investigation include lack of treatment options for core symptoms of autism, vermal hypoplasia, and other vermal abnormalities as a consistent feature of autism, mechanisms underlying cerebellar contributions to cognition, and unknown mechanisms underlying neuroinflammation.

7 Review Applications of transcranial magnetic stimulation (TMS) in child and adolescent psychiatry. 2011

Croarkin, Paul E / Wall, Christopher A / Lee, Jon. ·Mayo Clinic, Rochester, Minnesota, USA. Croarkin.paul@mayo.edu ·Int Rev Psychiatry · Pubmed #22200134.

ABSTRACT: Transcranial magnetic stimulation (TMS) is emerging as a new treatment and neurophysiological research tool for psychiatric disorders. Recent publications suggest that this modality will also serve as a treatment and research tool in child and adolescent psychiatry. Current reports on therapeutic trials of repetitive transcranial magnetic stimulation (rTMS) in adolescents have primarily focused on depression. However, other pilot work involves the treatment of attention-deficit/hyperactivity disorder (ADHD), autism and schizophrenia. Neurophysiological studies typically utilize single and paired-pulse TMS paradigms which index cortical excitability and inhibition. Initial studies have focused on ADHD, autism, and depression. General knowledge regarding TMS among child and adolescent psychiatrists is lacking. The aim of this review is to provide an overview of TMS in the context of child and adolescent psychiatry, discuss recent therapeutic and neurophysiological studies, and examine relevant ethical considerations.

8 Review The role of fragile X mental retardation protein in major mental disorders. 2011

Fatemi, S Hossein / Folsom, Timothy D. ·Department of Psychiatry, Division of Neuroscience Research, University of Minnesota Medical School, 420 Delaware St SE, MMC 392, Minneapolis, MN 55455, USA. fatem002@umn.edu ·Neuropharmacology · Pubmed #21108954.

ABSTRACT: Fragile X mental retardation protein (FMRP) is highly enriched in neurons and binds to approximately 4% of mRNAs in mammalian brain. Its loss is a hallmark of fragile X syndrome (FXS), the most common form of mental retardation. In this review we discuss the mutation in the fragile X mental retardation-1 gene (FMR1), that leads to FXS, the role FMRP plays in neuronal cells, experiments from our own laboratory that demonstrate reductions of FMRP in additional psychiatric disorders (autism, schizophrenia, bipolar disorder, and major depressive disorder), and potential therapies to ameliorate the loss of FMRP. This article is part of a Special Issue entitled 'Trends in neuropharmacology: in memory of Erminio Costa'.

9 Review Autism: part II. Genetics, diagnosis, and treatment. 2008

Ray-Mihm, Rita. ·Mayo Clinic-Rochester, MN, USA. ·J Contin Educ Nurs · Pubmed #18386695.

ABSTRACT: Due to the increasing prevalence of autism, nurses need to become more informed about the disease. This column reviews the genetics, diagnosis, and treatment of autism.

10 Review Genetic evaluation of autism. 2008

Mendelsohn, Nancy J / Schaefer, G Bradley. ·Division of Medical Genetics, Children's Hospitals and Clinics of Minnesota, Minneapolis, MN 55404, USA. nancy.mendelsohn@childrensmn.org ·Semin Pediatr Neurol · Pubmed #18342258.

ABSTRACT: The autism spectrum disorders represent a collective of neurogenetic conditions that have in common altered socialization and communication. Much attention has been given lately to the marked increased in the reported incidence of these conditions. Significant debate also exists as to the basis of the reported increase. Regardless, clinical geneticists and pediatric neurologists alike are seeing a tremendous increase in the number of referrals for autism and related conditions. Continuing advances in genetic testing provide a moving target for the clinician in determining an appropriate diagnostic plan. In this article, we review the most recent advances in genetic testing technology and their potential application to the etiologic evaluation of patients with autism spectrum disorders.

11 Article Public Perception of Autism Treatments: The Role of Credibility and Evidence. 2019

Fleury, Veronica P / Trevors, Greg / Kendeou, Panayiota. ·School of Teacher Education, Florida State University, 1114 W. Call Street, Tallahassee, FL, 32306, USA. vpfleury@fsu.edu. · Department of Educational Studies, University of South Carolina, 820 Main Street, Columbia, SC, 29201, USA. · Educational Psychology, University of Minnesota, 56 East River Road, Minneapolis, MN, 55455, USA. ·J Autism Dev Disord · Pubmed #30644022.

ABSTRACT: We explored the influence of credibility and evidence on public perceptions of ASD treatments using survey methodology. Participants (N = 379) read texts about different ASD treatments. The text presentation was based on a 2 × 2 within-subjects factorial design with treatment status [evidence based practices (EBP) vs. non-EBP] and source credibility in the text (credible vs. non-credible) as the independent variables. An instructional manipulation condition served as a between subjects factor. Respondents were more familiar with non-EBPs than EBPs, but viewed EBPs as being more credible and were more likely to endorse them compared to pseudoscientific practices. Interactions between source credibility and instructional manipulation were found on ratings of credibility and recommendation of both EBP and non-EBP texts. Implications of these findings are discussed.

12 Article Brief Report: Autism Knowledge and Stigma in University and Community Samples. 2019

Stronach, Sheri / Wiegand, Sarah / Mentz, Emily. ·Department of Speech-Language-Hearing Sciences, University of Minnesota-Twin Cities, 225 Shevlin Hall, 164 Pillsbury Drive SE, Minneapolis, MN, 55455, USA. sstronac@umn.edu. · Department of Communication Sciences and Special Education, University of Georgia, Athens, GA, USA. · Department of Speech-Language-Hearing Sciences, University of Minnesota-Twin Cities, 225 Shevlin Hall, 164 Pillsbury Drive SE, Minneapolis, MN, 55455, USA. ·J Autism Dev Disord · Pubmed #30465294.

ABSTRACT: Increased public understanding of autism may lead to better access to services and participation in the community for individuals with autism. The goal of this study was to explore autism understanding and stigma among university students, and general community members recruited at a state fair. Participants between 18 and 79 years of age (n = 478) completed the Autism Stigma and Knowledge Questionnaire (ASK-Q; Harrison et al., Journal of Autism and Developmental Disorders 47(10):3281-3295, 2017). All ASK-Q means fell within the adequate knowledge range, indicating relatively high levels of autism knowledge and low levels of stigma. ASK-Q scores were correlated with gender, education, and self-ratings of understanding but not age. The results of this study suggest the need for continued inquiry into metrics that indicate autism understanding and stigma.

13 Article Brief Report: Descriptive Analysis of Law Enforcement Officers' Experiences with and Knowledge of Autism. 2019

Gardner, Lauren / Campbell, Jonathan M / Westdal, June. ·Johns Hopkins All Children's Hospital, 880 6th Street South, Suite 410, St. Petersburg, FL, 33701, USA. lgardn18@jhmi.edu. · Department of Educational, School, and Counseling Psychology, University of Kentucky, Lexington, KY, USA. · Division of Clinical Behavioral Neuroscience, University of Minnesota, Minneapolis, MN, USA. ·J Autism Dev Disord · Pubmed #30357646.

ABSTRACT: Individuals with Autism Spectrum Disorder (ASD) may interact with law enforcement officers (LEOs) as victims of crime, witnesses to crime, or suspects of crime. Interactions between LEOs and those with ASD may go awry which raises questions about levels of training, experiences, and knowledge acquired by LEOs. Seventy-two LEOs reported on their experiences and training related to ASD and completed a survey of autism knowledge. The majority (72.2%) of LEOs reported no formal training for interacting with individuals with ASD. For LEOs responding to calls involving ASD, officers with prior training reported better preparation. Officers' responses to the knowledge survey varied considerably. Results support the need for formalized training in ASD for LEOs.

14 Article Rapid face orienting in infants and school-age children with and without autism: Exploring measurement invariance in eye-tracking. 2018

Dalrymple, Kirsten A / Wall, Natalie / Spezio, Michael / Hazlett, Heather C / Piven, Joseph / Elison, Jed T. ·Institute of Child Development, University of Minnesota, Minneapolis, Minnesota, United States of America. · Psychology and Neuroscience, Scripps College, Claremont, California, United States of America. · Institute for Systems Neuroscience, University Medical Center, Eppendorf, Hamburg, Germany. · Carolina Institute for Developmental Disabilities, University of North Carolina at Chapel Hill, North Carolina, United States of America. ·PLoS One · Pubmed #30153278.

ABSTRACT: Questions concerning the ontogenetic stability of autism have recently received increased attention as long-term longitudinal studies have appeared in the literature. Most experimental measures are designed for specific ages and functioning levels, yet developing experimental tasks appropriate for a wide range of ages and functioning levels is critical for future long-term longitudinal studies, and treatment studies implemented at different ages. Accordingly, we designed an eye-tracking task to measure preferential orienting to facial features and implemented it with groups of participants with varying levels of functioning: infants, and school-age children with and without autism. All groups fixated eyes first, revealing an early and stable orienting bias. This indicates common bias towards the eyes across participants regardless of age or diagnosis. We also demonstrate that this eye-tracking task can be used with diverse populations who range in age and cognitive functioning. Our developmental approach has conceptual implications for future work focused on task development and particularly new experimental measures that offer measurement equivalence across broad age ranges, intellectual functioning and verbal abilities.

15 Article The evolution of a series of behavioral traits is associated with autism-risk genes in cavefish. 2018

Yoshizawa, Masato / Settle, Alexander / Hermosura, Meredith C / Tuttle, Lillian J / Cetraro, Nicolas / Passow, Courtney N / McGaugh, Suzanne E. ·Department of Biology, University of Hawai'i at Mānoa, 2538 McCarthy Mall, EDM 216, Honolulu, HI, 96822, USA. yoshizaw@hawaii.edu. · Department of Biology, University of Hawai'i at Mānoa, 2538 McCarthy Mall, EDM 216, Honolulu, HI, 96822, USA. · Department of Cell and Molecular Biology, School of Medicine, University of Hawai'i at Mānoa, Honolulu, HI, 96813, USA. · Department of Ecology, Evolution, and Behavior, University of Minnesota, St. Paul, MN, 55108, USA. ·BMC Evol Biol · Pubmed #29909776.

ABSTRACT: BACKGROUND: An essential question in evolutionary biology is whether shifts in a set of polygenic behaviors share a genetic basis across species. Such a behavioral shift is seen in the cave-dwelling Mexican tetra, Astyanax mexicanus. Relative to surface-dwelling conspecifics, cavefish do not school (asocial), are hyperactive and sleepless, adhere to a particular vibration stimulus (imbalanced attention), behave repetitively, and show elevated stress hormone levels. Interestingly, these traits largely overlap with the core symptoms of human autism spectrum disorder (ASD), raising the possibility that these behavioral traits are underpinned by a similar set of genes (i.e. a repeatedly used suite of genes). RESULT: Here, we explored whether modification of ASD-risk genes underlies cavefish evolution. Transcriptomic analyses revealed that > 58.5% of 3152 cavefish orthologs to ASD-risk genes are significantly up- or down-regulated in the same direction as genes in postmortem brains from ASD patients. Enrichment tests suggest that ASD-risk gene orthologs in A. mexicanus have experienced more positive selection than other genes across the genome. Notably, these positively selected cavefish ASD-risk genes are enriched for pathways involved in gut function, inflammatory diseases, and lipid/energy metabolism, similar to symptoms that frequently coexist in ASD patients. Lastly, ASD drugs mitigated cavefish's ASD-like behaviors, implying shared aspects of neural processing. CONCLUSION: Overall, our study indicates that ASD-risk genes and associated pathways (especially digestive, immune and metabolic pathways) may be repeatedly used for shifts in polygenic behaviors across evolutionary time.

16 Article Linking spatial gene expression patterns to sex-specific brain structural changes on a mouse model of 16p11.2 hemideletion. 2018

Kumar, Vinod Jangir / Grissom, Nicola M / McKee, Sarah E / Schoch, Hannah / Bowman, Nicole / Havekes, Robbert / Kumar, Manoj / Pickup, Stephen / Poptani, Harish / Reyes, Teresa M / Hawrylycz, Mike / Abel, Ted / Nickl-Jockschat, Thomas. ·Department of Psychiatry, Psychotherapy and Psychosomatics, RWTH Aachen University, Aachen, Germany. · Juelich-Aachen Research Alliance Brain, Juelich/Aachen, Germany. · Max Planck Institute for Biological Cybernetics, Tubingen, Germany. · Department of Pharmacology, University of Pennsylvania, Philadelphia, PA, USA. · Institute for Translational Medicine and Therapeutics, University of Pennsylvania, Philadelphia, PA, USA. · Department of Psychology, University of Minnesota, Minneapolis, MN, USA. · Department of Biology, University of Pennsylvania, Philadelphia, PA, USA. · Department of Neuroscience, University of Pennsylvania, Philadelphia, PA, USA. · Groningen Institute for Evolutionary Life Sciences, University of Groningen, Groningen, Netherlands. · Department of Radiology, University of Pennsylvania, Philadelphia, PA, USA. · Centre for Preclinical Imaging, University of Liverpool, Liverpool, UK. · Department of Psychiatry and Behavioral Neurosciences, University of Cincinnati, Cincinnati, OH, USA. · Allen Institute for Brain Science, Seattle, WA, USA. · Iowa Neuroscience Institute, Carver College of Medicine, University of Iowa, Iowa, IA, USA. · Department of Psychiatry, Psychotherapy and Psychosomatics, RWTH Aachen University, Aachen, Germany. thomas-nickl-jockschat@uiowa.edu. · Juelich-Aachen Research Alliance Brain, Juelich/Aachen, Germany. thomas-nickl-jockschat@uiowa.edu. · Iowa Neuroscience Institute, Carver College of Medicine, University of Iowa, Iowa, IA, USA. thomas-nickl-jockschat@uiowa.edu. · Department of Psychiatry, Carver College of Medicine, University of Iowa, Iowa, IA, USA. thomas-nickl-jockschat@uiowa.edu. ·Transl Psychiatry · Pubmed #29844452.

ABSTRACT: Neurodevelopmental disorders, such as ASD and ADHD, affect males about three to four times more often than females. 16p11.2 hemideletion is a copy number variation that is highly associated with neurodevelopmental disorders. Previous work from our lab has shown that a mouse model of 16p11.2 hemideletion (del/+) exhibits male-specific behavioral phenotypes. We, therefore, aimed to investigate with magnetic resonance imaging (MRI), whether del/+ animals also exhibited a sex-specific neuroanatomical endophenotype. Using the Allen Mouse Brain Atlas, we analyzed the expression patterns of the 27 genes within the 16p11.2 region to identify which gene expression patterns spatially overlapped with brain structural changes. MRI was performed ex vivo and the resulting images were analyzed using Voxel-based morphometry for T1-weighted sequences and tract-based spatial statistics for diffusion-weighted images. In a subsequent step, all available in situ hybridization (ISH) maps of the genes involved in the 16p11.2 hemideletion were aligned to Waxholm space and clusters obtained by sex-specific group comparisons were analyzed to determine which gene(s) showed the highest expression in these regions. We found pronounced sex-specific changes in male animals with increased fractional anisotropy in medial fiber tracts, especially in those proximate to the striatum. Moreover, we were able to identify gene expression patterns spatially overlapping with male-specific structural changes that were associated with neurite outgrowth and the MAPK pathway. Of note, previous molecular studies have found convergent changes that point to a sex-specific dysregulation of MAPK signaling. This convergent evidence supports the idea that ISH maps can be used to meaningfully analyze imaging data sets.

17 Article Role of inter-trial phase coherence in atypical auditory evoked potentials to speech and nonspeech stimuli in children with autism. 2018

Yu, Luodi / Wang, Suiping / Huang, Dan / Wu, Xueyuan / Zhang, Yang. ·School of Psychology, South China Normal University, Guangzhou 510631, China; Department of Speech-Language-Hearing Sciences, University of Minnesota, Minneapolis, MN 55455, USA. · School of Psychology, South China Normal University, Guangzhou 510631, China. Electronic address: wangsuiping@m.scnu.edu.cn. · Guangzhou Rehabilitation and Research Center for Children with Autism, Guangzhou Cana School, Guangzhou 510540, China. · Department of Speech-Language-Hearing Sciences, University of Minnesota, Minneapolis, MN 55455, USA; Center for Neurobehavioral Development, University of Minnesota, Minneapolis, MN 55455, USA. Electronic address: zhanglab@umn.edu. ·Clin Neurophysiol · Pubmed #29729592.

ABSTRACT: OBJECTIVE: This autism study investigated how inter-trial phase coherence (ITPC) drives abnormalities in auditory evoked potential (AEP) responses for speech and nonspeech stimuli. METHODS: Auditory P1-N2 responses and ITPCs in the theta band (4-7 Hz) for pure tones and words were assessed with EEG data from 15 school-age children with autism and 16 age-matched typically developing (TD) controls. RESULTS: The autism group showed enhanced P1 and reduced N2 for both speech and nonspeech stimuli in comparison with the TD group. Group differences were also found with enhanced theta ITPC for P1 followed by ITPC reduction for N2 in the autism group. The ITPC values were significant predictors of P1 and N2 amplitudes in both groups. CONCLUSIONS: Abnormal trial-to-trial phase synchrony plays an important role in AEP atypicalities in children with autism. ITPC-driven enhancement as well as attenuation in different AEP components may coexist, depending on the stage of information processing. SIGNIFICANCE: It is necessary to examine the time course of auditory evoked potentials and the corresponding inter-trial coherence of neural oscillatory activities to better understand hyper- and hypo- sensitive responses in autism, which has important implications for sensory based treatment.

18 Article Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia. 2018

Guissart, Claire / Latypova, Xenia / Rollier, Paul / Khan, Tahir N / Stamberger, Hannah / McWalter, Kirsty / Cho, Megan T / Kjaergaard, Susanne / Weckhuysen, Sarah / Lesca, Gaetan / Besnard, Thomas / Õunap, Katrin / Schema, Lynn / Chiocchetti, Andreas G / McDonald, Marie / de Bellescize, Julitta / Vincent, Marie / Van Esch, Hilde / Sattler, Shannon / Forghani, Irman / Thiffault, Isabelle / Freitag, Christine M / Barbouth, Deborah Sara / Cadieux-Dion, Maxime / Willaert, Rebecca / Guillen Sacoto, Maria J / Safina, Nicole P / Dubourg, Christèle / Grote, Lauren / Carré, Wilfrid / Saunders, Carol / Pajusalu, Sander / Farrow, Emily / Boland, Anne / Karlowicz, Danielle Hays / Deleuze, Jean-François / Wojcik, Monica H / Pressman, Rena / Isidor, Bertrand / Vogels, Annick / Van Paesschen, Wim / Al-Gazali, Lihadh / Al Shamsi, Aisha Mohamed / Claustres, Mireille / Pujol, Aurora / Sanders, Stephan J / Rivier, François / Leboucq, Nicolas / Cogné, Benjamin / Sasorith, Souphatta / Sanlaville, Damien / Retterer, Kyle / Odent, Sylvie / Katsanis, Nicholas / Bézieau, Stéphane / Koenig, Michel / Davis, Erica E / Pasquier, Laurent / Küry, Sébastien. ·EA7402 Institut Universitaire de Recherche Clinique, and Laboratoire de Génétique Moléculaire, CHU and Université de Montpellier, 34093 Montpellier, France. · Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA; l'institut du thorax, INSERM, CNRS, UNIV Nantes, 44007 Nantes, France. · Service de Génétique Clinique, Centre Référence "Déficiences Intellectuelles de causes rares" (CRDI), Centre de référence anomalies du développement CLAD-Ouest, CHU Rennes, 35203 Rennes, France. · Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA. · Division of Neurology, University Hospital Antwerp (UZA), 2610 Antwerp, Belgium; Neurogenetics Group, Center for Molecular Neurology, VIB, 2650 Antwerp, Belgium; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, 2650 Antwerp, Belgium. · GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA. · Chromosome Laboratory, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, 2100 Copenhagen, Denmark. · Service de génétique, Groupement Hospitalier Est, Hospices Civils de Lyon, Lyon, France; INSERM U1028, CNRS UMR5292, Centre de Recherche en Neurosciences de Lyon, Université Claude Bernard Lyon 1, Lyon, France. · Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France; l'institut du thorax, INSERM, CNRS, UNIV Nantes, 44007 Nantes, France. · Department of Clinical Genetics, United Laboratories, Tartu University Hospital and Institute of Clinical Medicine, University of Tartu, 2 L.Puusepa street, Tartu 51014, Estonia. · University of Minnesota-Fairview, Minneapolis, MN 55454, USA. · Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, JW Goethe University Frankfurt, Deutschordenstraße 50, Frankfurt am Main 60528, Germany. · Division of Medical Genetics, Department of Pediatrics, Duke University, Durham, NC 27710, USA. · Epilepsy, Sleep and Pediatric Neurophysiology Department, Hospices Civils, Lyon, 69677 Bron, France. · Center for Human Genetics, University Hospitals Leuven, Herestraat 49, 3000 Leuven, Belgium. · Carle Physician Group, Urbana, IL 61801, USA. · Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miller School of Medicine, 1501 NW 10th Avenue, BRB, room 359 (M-860), Miami, FL 33136, USA. · Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA; University of Missouri Kansas City, School of Medicine, Kansas City, MO 64108, USA. · Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA. · University of Missouri Kansas City, School of Medicine, Kansas City, MO 64108, USA; Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, MO 64108, USA; Department of Pediatrics, Children's Mercy Hospital, Kansas City, MO 64108, USA. · Laboratoire de Génétique Moléculaire & Génomique, CHU de Rennes, 35033 Rennes, France. · Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA; University of Missouri Kansas City, School of Medicine, Kansas City, MO 64108, USA; Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, MO 64108, USA. · Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, DRF, CEA, Evry, France. · The Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA. · Department of Neurology, University Hospitals Leuven, Herestraat 49, 3000 Leuven, Belgium. · Department of Paediatrics, College of Medicine and Health Sciences, United Arab Emirates University, PO Box 17666, Al Ain, United Arab Emirates. · Department of Paediatrics, Tawam Hospital, PO Box 15258, Al-Ain, United Arab Emirates. · Neurometabolic Diseases Laboratory, IDIBELL, Gran Via, 199, L'Hospitalet de Llobregat, 08908 Barcelona, and CIBERER U759, Center for Biomedical Research on Rare Diseases, 08908 Barcelona, Spain, Catalan Institution of Research and Advanced Studies (ICREA), 08010 Barcelona, Spain. · Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94158, USA. · Department of Neuropaediatrics and CR Maladies Neuromusculaires, CHU Montpellier, PhyMedExp, INSERM, CNRS, University of Montpellier, Montpellier, France. · Neuroradiologie, CHU de Montpellier, 34090 Montpellier, France. · Service de Génétique Clinique, Centre Référence "Déficiences Intellectuelles de causes rares" (CRDI), Centre de référence anomalies du développement CLAD-Ouest, CHU Rennes, 35203 Rennes, France; CNRS UMR 6290, Université de Rennes, 2 Avenue du Professeur Léon Bernard, 35043 Rennes, France. · Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA. Electronic address: erica.davis@duke.edu. · Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France; l'institut du thorax, INSERM, CNRS, UNIV Nantes, 44007 Nantes, France. Electronic address: sebastien.kury@chu-nantes.fr. ·Am J Hum Genet · Pubmed #29656859.

ABSTRACT: RORα, the RAR-related orphan nuclear receptor alpha, is essential for cerebellar development. The spontaneous mutant mouse staggerer, with an ataxic gait caused by neurodegeneration of cerebellar Purkinje cells, was discovered two decades ago to result from homozygous intragenic Rora deletions. However, RORA mutations were hitherto undocumented in humans. Through a multi-centric collaboration, we identified three copy-number variant deletions (two de novo and one dominantly inherited in three generations), one de novo disrupting duplication, and nine de novo point mutations (three truncating, one canonical splice site, and five missense mutations) involving RORA in 16 individuals from 13 families with variable neurodevelopmental delay and intellectual disability (ID)-associated autistic features, cerebellar ataxia, and epilepsy. Consistent with the human and mouse data, disruption of the D. rerio ortholog, roraa, causes significant reduction in the size of the developing cerebellum. Systematic in vivo complementation studies showed that, whereas wild-type human RORA mRNA could complement the cerebellar pathology, missense variants had two distinct pathogenic mechanisms of either haploinsufficiency or a dominant toxic effect according to their localization in the ligand-binding or DNA-binding domains, respectively. This dichotomous direction of effect is likely relevant to the phenotype in humans: individuals with loss-of-function variants leading to haploinsufficiency show ID with autistic features, while individuals with de novo dominant toxic variants present with ID, ataxia, and cerebellar atrophy. Our combined genetic and functional data highlight the complex mutational landscape at the human RORA locus and suggest that dual mutational effects likely determine phenotypic outcome.

19 Article Behavioral assessments of BTBR T+Itpr3tf/J mice by tests of object attention and elevated open platform: Implications for an animal model of psychiatric comorbidity in autism. 2018

Chao, Owen Y / Yunger, Richelle / Yang, Yi-Mei. ·Department of Biomedical Sciences, University of Minnesota Medical School, Duluth, MN, USA. · Swenson College of Science and Engineering, University of Minnesota Duluth, Duluth, MN, USA. · Department of Biomedical Sciences, University of Minnesota Medical School, Duluth, MN, USA. Electronic address: ymyang@d.umn.edu. ·Behav Brain Res · Pubmed #29545145.

ABSTRACT: Autism spectrum disorders (ASD) are diagnosed based on the behavioral criteria of impaired social interaction, defective communication and repetitive behaviors. Psychiatric comorbidities, such as anxiety and intellectual disability, are commonly present in ASD. The BTBR T+ Itpr3tf/J (BTBR) mice display a range of autistic phenotypes, yet whether this mouse model is appropriate to study psychiatric comorbidity in ASD remains unclear. We addressed this issue by subjecting the BTBR animals to three-chambered apparatus, open field, object attention test and elevated open platform. Compared to C57BL/6J control mice, the BTBR mice displayed hyperactivity in most of the tests. In the three-chamber assessment, they exhibited deficits in sociability. In the open field, more grooming and thigmotaxis and less rearing behaviors were observed. They also showed impaired object-based attention. On the elevated open platform, the BTBR animals stayed more to the edges than in the center of the platform. To further examine the properties of this test, naïve C57BL/6J mice were randomly administrated with saline or an anxiogenic substance, caffeine. The caffeine group demonstrated a similar behavioral pattern as the BTBR mice. When the saline group was re-exposed to the same platform, the time they stayed in the center substantially increased, likely due to reduced anxiety by habituation. These results indicate that the BTBR were more anxious than control mice on the open platform. Taken together, the BTBR strain exhibit emotional and cognitive impairments in addition to autistic behaviors, suggesting that they can be a valid model for ASD with psychiatric comorbidity.

20 Article Accurate Autism Screening at the 18-Month Well-Child Visit Requires Different Strategies than at 24 Months. 2017

Sturner, Raymond / Howard, Barbara / Bergmann, Paul / Morrel, Tanya / Landa, Rebecca / Walton, Kejuana / Marks, Danielle. ·Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, 21287, USA. rsturner@childhealthcare.org. · Center for Promotion of Child Development through Primary Care, Baltimore, MD, 21210, USA. rsturner@childhealthcare.org. · , 6017 Altamont Place, Baltimore, MD, 21210, USA. rsturner@childhealthcare.org. · Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, 21287, USA. · Total Child Health, Baltimore, MD, 21210, USA. · Foresight Logic, Inc., Saint Paul, MN, USA. · PrairieCare Institute, Minneapolis, MN, USA. · Kennedy Krieger Institute, Baltimore, MD, 21287, USA. · Baltimore Healthy Start, Baltimore, MD, 21218, USA. · Sinai Hospital, Baltimore, MD, 21215, USA. · Maternal and Child Health Unit, Public Health Division, Wyoming Department of Health, Evanston, WY, USA. ·J Autism Dev Disord · Pubmed #28762159.

ABSTRACT: Accuracy of autism screening using M-CHAT plus the follow-up interview (M-CHAT/F) for children screened positive at 18-months was compared to screening at 24-months. Formal ASD testing was criterion for a community sample of M-CHAT positive children (n = 98), positive predictive value (PPV) was 0.40 for the M-CHAT and 0.58 for the M-CHAT/F. MCHAT/F PPV was 0.69 among children 20+ months compared to 0.36 for <20 months. Multivariate analyses incorporating data from the Ages and Stages Questionnaire, MacArthur-Bates Communicative Development Inventory, M-CHAT and M-CHAT/F results, and M-CHAT items suggest language variables carry greatest relative importance in contributing to an age-based algorithm with potential to improve PPV for toddlers <20 months to the same level as observed in older toddlers.

21 Article Comparison of Autism Screening in Younger and Older Toddlers. 2017

Sturner, Raymond / Howard, Barbara / Bergmann, Paul / Stewart, Lydia / Afarian, Talin E. ·Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA. rsturner@childhealthcare.org. · Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA. · Foresight Logic, Inc., Saint Paul, MN, USA. · PrairieCare Institute, Minneapolis, MN, USA. · Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA. · Loyola University, Baltimore, MD, USA. ·J Autism Dev Disord · Pubmed #28733850.

ABSTRACT: This study examined the effect of age at completion of an autism screening test on item failure rates contrasting older (>20 months) with younger (<20 months) toddlers in a community primary care sample of 73,564 children. Items related to social development were categorized into one of three age sets per criteria from Inada et al. (Research in Autism Spectrum Disorders 4(4):605-611, 2010). Younger toddlers produced higher rates of item failure than older toddlers and items in both of the later acquired item sets had higher probability rates for failure than the earliest acquired item set (prior to 8 months). Use of the same items and the same scoring throughout the target age range for autism screening may not be the best strategy for identifying the youngest toddlers at risk for autism.

22 Article Mice lacking the chromodomain helicase DNA-binding 5 chromatin remodeler display autism-like characteristics. 2017

Pisansky, M T / Young, A E / O'Connor, M B / Gottesman, I I / Bagchi, A / Gewirtz, J C. ·Graduate Program in Neuroscience University of Minnesota -Twin Cities, Minneapolis, MN, USA. · Department of Psychology, University of Minnesota -Twin Cities, Minneapolis, MN, USA. · Department of Genetics, Cell Biology, and Development, University of Minnesota -Twin Cities, Minneapolis, MN, USA. ·Transl Psychiatry · Pubmed #28608855.

ABSTRACT: Although autism spectrum disorders (ASDs) share a core set of nosological features, they exhibit substantial genetic heterogeneity. A parsimonious hypothesis posits that dysregulated epigenetic mechanisms represent common pathways in the etiology of ASDs. To investigate this hypothesis, we generated a novel mouse model resulting from brain-specific deletion of chromodomain helicase DNA-binding 5 (Chd5), a chromatin remodeling protein known to regulate neuronal differentiation and a member of a gene family strongly implicated in ASDs. RNA sequencing of Chd5

23 Article Functional neuroimaging of high-risk 6-month-old infants predicts a diagnosis of autism at 24 months of age. 2017

Emerson, Robert W / Adams, Chloe / Nishino, Tomoyuki / Hazlett, Heather Cody / Wolff, Jason J / Zwaigenbaum, Lonnie / Constantino, John N / Shen, Mark D / Swanson, Meghan R / Elison, Jed T / Kandala, Sridhar / Estes, Annette M / Botteron, Kelly N / Collins, Louis / Dager, Stephen R / Evans, Alan C / Gerig, Guido / Gu, Hongbin / McKinstry, Robert C / Paterson, Sarah / Schultz, Robert T / Styner, Martin / Anonymous751060 / Schlaggar, Bradley L / Pruett, John R / Piven, Joseph. ·Carolina Institute for Developmental Disabilities, University of North Carolina at Chapel Hill, Chapel Hill, NC 27510, USA. remerson@med.unc.edu. · Department of Psychiatry, Washington University School of Medicine, St. Louis, MO 63110, USA. · Carolina Institute for Developmental Disabilities, University of North Carolina at Chapel Hill, Chapel Hill, NC 27510, USA. · Department of Psychiatry, University of North Carolina at Chapel Hill, Chapel Hill, NC 27514, USA. · Department of Educational Psychology, University of Minnesota, Minneapolis, MN 55455, USA. · Department of Pediatrics, University of Alberta, Edmonton, Alberta, Canada. · Institute of Child Development, University of Minnesota, Minneapolis, MN 55455, USA. · Department of Speech and Hearing Sciences, University of Washington, Seattle, WA 98105, USA. · Mallinckrodt Institute of Radiology, Washington University, Washington University School of Medicine, St. Louis, MO 63110, USA. · Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada. · Center on Human Development and Disability, University of Washington, Seattle, WA 98105, USA. · Department of Radiology, University of Washington, Seattle, WA 98105, USA. · Tandon School of Engineering, New York University, Brooklyn, NY 11201, USA. · Center for Autism Research, Department of Pediatrics, Children's Hospital of Philadelphia, and University of Pennsylvania, Philadelphia, PA 19104, USA. · Department of Neurology, Washington University School of Medicine, St. Louis, MO 63110, USA. ·Sci Transl Med · Pubmed #28592562.

ABSTRACT: Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by social deficits and repetitive behaviors that typically emerge by 24 months of age. To develop effective early interventions that can potentially ameliorate the defining deficits of ASD and improve long-term outcomes, early detection is essential. Using prospective neuroimaging of 59 6-month-old infants with a high familial risk for ASD, we show that functional connectivity magnetic resonance imaging correctly identified which individual children would receive a research clinical best-estimate diagnosis of ASD at 24 months of age. Functional brain connections were defined in 6-month-old infants that correlated with 24-month scores on measures of social behavior, language, motor development, and repetitive behavior, which are all features common to the diagnosis of ASD. A fully cross-validated machine learning algorithm applied at age 6 months had a positive predictive value of 100% [95% confidence interval (CI), 62.9 to 100], correctly predicting 9 of 11 infants who received a diagnosis of ASD at 24 months (sensitivity, 81.8%; 95% CI, 47.8 to 96.8). All 48 6-month-old infants who were not diagnosed with ASD were correctly classified [specificity, 100% (95% CI, 90.8 to 100); negative predictive value, 96.0% (95% CI, 85.1 to 99.3)]. These findings have clinical implications for early risk assessment and the feasibility of developing early preventative interventions for ASD.

24 Article Speech-specific categorical perception deficit in autism: An Event-Related Potential study of lexical tone processing in Mandarin-speaking children. 2017

Wang, Xiaoyue / Wang, Suiping / Fan, Yuebo / Huang, Dan / Zhang, Yang. ·School of Psychology, South China Normal University, Guangzhou, 510631, China. · Center for Studies of Psychological Application, South China Normal University, 510631, China. · Guangdong Provincial Key Laboratory of Mental Health and Cognitive Science, South China Normal University, Guangzhou, 510631, China. · Guangzhou Rehabilitation and Research Center for Children with Autism, Guangzhou Cana School, Guangzhou, 510540, China. · Department of Speech-Language-Hearing Science, University of Minnesota, Minneapolis, MN, 55455, USA. · Center for Neurobehavioral Development, University of Minnesota, Minneapolis, MN, 55455, USA. ·Sci Rep · Pubmed #28225070.

ABSTRACT: Recent studies reveal that tonal language speakers with autism have enhanced neural sensitivity to pitch changes in nonspeech stimuli but not to lexical tone contrasts in their native language. The present ERP study investigated whether the distinct pitch processing pattern for speech and nonspeech stimuli in autism was due to a speech-specific deficit in categorical perception of lexical tones. A passive oddball paradigm was adopted to examine two groups (16 in the autism group and 15 in the control group) of Chinese children's Mismatch Responses (MMRs) to equivalent pitch deviations representing within-category and between-category differences in speech and nonspeech contexts. To further examine group-level differences in the MMRs to categorical perception of speech/nonspeech stimuli or lack thereof, neural oscillatory activities at the single trial level were further calculated with the inter-trial phase coherence (ITPC) measure for the theta and beta frequency bands. The MMR and ITPC data from the children with autism showed evidence for lack of categorical perception in the lexical tone condition. In view of the important role of lexical tones in acquiring a tonal language, the results point to the necessity of early intervention for the individuals with autism who show such a speech-specific categorical perception deficit.

25 Article Quality of life in adults with facial port-wine stains. 2017

Hagen, Solveig L / Grey, Katherine R / Korta, Dorota Z / Kelly, Kristen M. ·University of Minnesota Medical School, Minneapolis, Minnesota. Electronic address: hagen333@umn.edu. · University of Minnesota Medical School, Minneapolis, Minnesota. · University of California Irvine, Department of Dermatology, Irvine, California. ·J Am Acad Dermatol · Pubmed #27955934.

ABSTRACT: BACKGROUND: Facial port-wine stains (PWS) are considered by some an aesthetic skin problem, yet impact on quality of life (QoL) has not been objectively documented. OBJECTIVE: We sought to (1) characterize the effect of PWS on QoL in adults, (2) to identify the clinical and demographic factors that affect QoL, and (3) to compare our results with QoL studies in other skin conditions. METHODS: In total, 244 adults with facial PWS completed an online QoL survey, which included the Skindex-29 instrument. RESULTS: QoL in adults with facial PWS was diminished, especially from an emotional perspective. Variables associated with reduced QoL in all Skindex-29 subdomains included comorbid depression, limited facial mobility, and presence of other skin conditions. Persons with hypertrophy had more emotional and symptomatic impairment. The composite dermatologic-specific QoL scores were similar to those of cutaneous T-cell lymphoma, rosacea, alopecia, and vitiligo. LIMITATIONS: Selection bias was a potential limitation, as participants were primarily recruited from patient support groups. CONCLUSION: Our analysis demonstrates that the presence of a facial PWS has a significant negative impact on QoL. Dermatologists caring for patients with PWS should inquire about QoL, provide appropriate support and resources, and consider QoL when discussing treatment options and obtaining authorization for these procedures.

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