Transcript of the December 14, 2010 IACC Meeting
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Neuregulin Induces the Expression of Transcription Factors and Myosin Heavy Chains Typical of Muscle Spindles in Cultured Human Muscle
Neuregulin induces the expression of transcription factors and myosin heavy chains typical of muscle spindles in cultured human muscle Christian Jacobson*, David Duggan†, and Gerald Fischbach‡§ *Microarray Unit, Genetics and Genomics Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892; †Translational Genomics Research Institute (TGen), Phoenix, AZ 85004; and ‡Department of Pharmacology, Columbia University College of Physicians and Surgeons, New York, NY 10032 Contributed by Gerald Fischbach, June 29, 2004 Neuregulin (NRG) (also known as ARIA, GGF, and other names) is (DRG) (28), proprioceptive sensory neurons in particular, ex- a heparin sulfate proteoglycan secreted into the neuromuscular press NRG early in development (14, 29, 30). While these junction by innervating motor and sensory neurons. An integral experiments were ongoing, reports appeared implicating NRG in part of synapse formation, we have analyzed NRG-induced the development of muscle spindles. Hippenmeyer et al. (14) changes in gene expression over 48 h in primary human myotubes. showed that NRG induces the expression of early growth We show that in addition to increasing the expression of acetyl- response 3 (Egr3), a transcription factor that is critical to the choline receptors on the myotube surface, NRG treatment results differentiation of muscle spindle fibers (31). Evidence for NRG’s in a transient increase of several members of the early growth role in spindle formation is re-enforced by the phenotypic response (Egr) family of transcription factors. Three Egrs, Egr1, -2, similarities between conditional Erb2 knockout animals and and -3, are induced within the first hour of NRG treatment, with Egr3 null mice (13, 15, 24). -
L Brown Presentation
Health Equity Learning Series Beyond Service Provision and Disparate Outcomes: Disability Justice Informing Communities of Practice HEALTH EQUITY LEARNING SERIES 2016-17 GRANTEES • Aurora Mental Health Center • Northwest Colorado Health • Bright Futures • Poudre Valley Health System • Central Colorado Area Health Education Foundation (Vida Sana) Center • Pueblo Triple Aim Corporation • Colorado Cross-Disability Coalition • Rural Communities Resource Center • Colorado Latino Leadership, Advocacy • Southeast Mental Health Services and Research Organization • The Civic Canopy • Cultivando • The Gay, Lesbian, Bisexual, and • Eagle County Health and Human Transgender Community Center of Services Colorado • El Centro AMISTAD • Tri-County Health Network • El Paso County Public Health • Warm Cookies of the Revolution • Hispanic Affairs Project • Western Colorado Area Health Education Center HEALTH EQUITY LEARNING SERIES Lydia X. Z. Brown (they/them) • Activist, writer and speaker • Past President, TASH New England • Chairperson, Massachusetts Developmental Disabilities Council • Board member, Autism Women’s Network ACCESS NOTE Please use this space as you need or prefer. Sit in chairs or on the floor, pace, lie on the floor, rock, flap, spin, move around, step in and out of the room. CONTENT/TW I will talk about trauma, abuse, violence, and murder of disabled people, as well as forced treatment and institutions, and other acts of violence, including sexual violence. Please feel free to step out of the room at any time if you need to. BEYOND SERVICE -
The Cerebral Subject and the Challenge of Neurodiversity
BioSocieties (2009), 4, 425–445 ª London School of Economics and Political Science doi:10.1017/S1745855209990287 The Cerebral Subject and the Challenge of Neurodiversity Francisco Ortega Institute for Social Medicine, State University of Rio de Janeiro, Rua Saˇ o Francisco Xavier 524, Rio de Janeiro CEP 20550-900, Brazil E-mail: [email protected] Abstract The neurodiversity movement has so far been dominated by autistic people who believe their condition is not a disease to be treated and, if possible, cured, but rather a human specificity (like sex or race) that must be equally respected. Autistic self-advocates largely oppose groups of parents of autistic children and professionals searching for a cure for autism. This article discusses the posi- tions of the pro-cure and anti-cure groups. It also addresses the emergence of autistic cultures and various issues concerning autistic identities. It shows how identity issues are frequently linked to a ‘neurological self-awareness’ and a rejection of psychological interpretations. It argues that the preference for cerebral explanations cannot be reduced to an aversion to psychoanalysis or psychological culture. Instead, such preference must be understood within the context of the dif- fusion of neuroscientific claims beyond the laboratory and their penetration in different domains of life in contemporary biomedicalized societies. Within this framework, neuroscientific theories, prac- tices, technologies and therapies are influencing the ways we think about ourselves and relate to others, favoring forms of neurological or cerebral subjectivation. The article shows how neuroscien- tific claims are taken up in the formation of identities, as well as social and community networks. -
Heller 7-Day Neurodiversity Inclusion Challenge-Introduction
The 7-Day Neurodiversity Inclusion Challenge at Heller Introduction Many people are unfamiliar with the term “neurodiversity,” a concept originating in the autistic community and made widely known, in particular, by Jim Sinclair, a pioneer of autistic self-advocacy. Briefly, “neurodiversity” refers to the range of neurological divergence from “neurotypical” patterns of cognition. The term and concept originated from the neurodiversity movement, a social movement that argues that society should accommodate and include people with neurological disabilities rather than seek to cure them or enforce typical behavior. Human minds vary, and these variations do not all require a cure. The term also can imply that no typical or normal brain exists at all; all brains are variations on a theme. Associated primarily with autism (now known clinically as autism spectrum disorder [ASD]), neurodiversity usually also includes attention-deficit/hyperactivity disorder (ADHD), dyslexia, and dyspraxia as well as many other conditions. Some apply the term not only to innate conditions but also to acquired conditions, for example, neurological divergence caused by brain injury. Different disability communities have different politics. While some do seek cures or other interventions designed to promote typical function, a growing number of communities have adopted the neurodiversity framework as offering a better approach to research, support, and advocacy. While neurodiversity is consistent with services and supports designed to help people achieve important person-centered goals like communication, independent living, and avoiding self-injury, therefore, the neurodiversity movement rejects the idea that service provision or research should promote typical behavior, like eye contact or standard movement and speech patterns. -
COLUMBIA Columbia University DIGITAL KNOWLEDGE VENTURES
COLUMBIA columbia university DIGITAL KNOWLEDGE VENTURES Brain and Mind May 13, 2004 Gerald D. Fischbach, MD Neuroscience and Neuropathology—Converging Streams Introduction by Lee Bollinger President Lee Bollinger: This symposium is the result of the very, very hard work of Professor Tom Jessell and Dr. Joanna Rubinstein, and I want to thank and acknowledge them, and would like to thank all of you for coming. This is a great testament to the general perceived importance of the subjects of this symposium. I want to thank all the speakers who have come to participate. I want to take this occasion just to announce that Columbia will be launching—we are launching, as of this moment—an institute for neuroscience that will be part (eventually) of the major center for the study of the brain and behavior. We all, I think, recognize in the academy the extraordinary advances that have come just in the past few decades, the past decade in particular, because of the discoveries around the genetic code. Where that will take us of course we don't know, and we're making very, very significant investments across the country in trying to advance knowledge as a result of that new knowledge. But the study of the brain and how it works is clearly central not only to the curing of disease, but also to the understandings that we bring to every, virtually every, area of life: social sciences, the professions, and the humanities. And it is Columbia's goal to try to bring as many scientific advances as we possibly can to this area, and also to integrate it with other areas of knowledge. -
The Autism–Tics, ADHD and Other Comorbidities
Mårland et al. BMC Psychiatry (2017) 17:403 DOI 10.1186/s12888-017-1563-0 RESEARCH ARTICLE Open Access The Autism–Tics, ADHD and other Comorbidities inventory (A-TAC): previous and predictive validity Caroline Mårland1,2* , Paul Lichtenstein3, Alessio Degl’Innocenti1,2, Tomas Larson1, Maria Råstam4, Henrik Anckarsäter1, Christopher Gillberg5, Thomas Nilsson1 and Sebastian Lundström1,5 Abstract Background: Reliable and easy to administer screening instruments focusing on neurodevelopmental disorders and associated conditions are scarce. The Autism–Tics, AD/HD and other Comorbidities inventory (A-TAC) has previously been validated and reporting good– excellent validity for several disorders. This article aims to expand these findings by including more conditions in a substantially larger sample augmented with the Swedish National Patient Register (NPR). Methods: Since 2004 parents of all 9-year-old Swedish twins have been invited to participate in a telephone interview in the Child and Adolescent Twin Study in Sweden, CATSS. The CATSS is linked to the NPR which includes data from in- and outpatient care. Data on neurodevelopmental disorders (A-TAC) collected in CATSS were compared with diagnoses from the NPR. We investigated diagnoses that had been made both before (previous validity) and after (predictive validity) the interview. Results: Sensitivity and specificity of A-TAC scores for predicting earlier or later clinical diagnoses were mostly good–excellent, with values of the area under the curve for a clinical diagnosis of autism spectrum disorder (ASD) of .98, attention deficit hyperactivity disorder (ADHD) .93, learning disorder (LD) .92, and oppositional defiant disorder (ODD) .99, with small differences in terms of previous and predictive analyses. -
Autism Spectrum Disorders—A Genetics Review Judith H
GENETEST REVIEW Genetics in Medicine Autism spectrum disorders—A genetics review Judith H. Miles, MD, PhD TABLE OF CONTENTS Prevalence .........................................................................................................279 Adenylosuccinate lyase deficiency ............................................................285 Clinical features................................................................................................279 Creatine deficiency syndromes..................................................................285 Core autism symptoms...................................................................................279 Smith-Lemli-Opitz syndrome.....................................................................285 Diagnostic criteria and tools..........................................................................280 Other single-gene disorders.......................................................................285 Neurologic and medical symptoms .............................................................281 Developmental syndromes of undetermined etiology..............................286 Genetics of autism...........................................................................................281 Moebius syndrome or sequence...............................................................286 Chromosomal disorders and CNVS..............................................................282 Landau-Kleffner syndrome .........................................................................286 Single-gene -
Neuregulin and Erbb Receptors Play a Critical Role in Neuronal Migration
View metadata, citation and similar papers at core.ac.uk brought to you by CORE provided by Elsevier - Publisher Connector Neuron, Vol. 19, 39±50, July, 1997, Copyright 1997 by Cell Press Neuregulin and erbB Receptors Play a Critical Role in Neuronal Migration Carlos Rio,*³ Heather I Rieff,*²³ Peimin Qi,* the external germinal layer (EGL) and migrate inward and Gabriel Corfas*² along Bergmann radial fibers to their final destination, *Division of Neuroscience and Department the internal granule cell layer (IGL) (Rakic, 1971). In ro- of Neurology dents, this migration takes place during the first 2 post- Children's Hospital and Harvard Medical natal weeks. Granule cell migration has been studied School in vitro in both cerebellar slices and in cocultures of 300 Longwood Avenue dissociated cerebellar granule cells and astroglia. These ² Program in Neuroscience studies have implicated a number of molecules in steps Harvard Medical School of the migration process, for example, cell adhesion 220 Longwood Avenue molecules, i.e., AMOG (Antonicek et al., 1987; Gloor et Boston, Massachusetts 02115 al. 1990) and astrotactin (Zheng et al., 1996); ion chan- nels, i.e., NMDA receptors (Komuro and Rakic, 1993) and Ca21 channels (Komuro and Rakic, 1992). In addition, Summary studies of mutant mouse lines with defects in brain de- velopment have led to the identification of other mole- The migration of neuronal precursors along radial glial cules, including potassium channels in the case of the fibers is a critical step in the formation of the nervous weaver mutant (Rakic and Sidman, 1973; Patil et al., system. In this report, we show that neuregulin±erbB 1995); the extracellular matrix protein reelin in the reeler receptor signaling plays a crucial role in the migration mutant (Caviness and Sidman, 1973; D'Arcangelo et al., of cerebellar granule cells along radial glial fibers. -
Understanding Autism
1 Understanding Autism Autism is a way of being. It is pervasive; it colors every experience, every sensation, perception, thought, emotion, and encounter, every aspect of existence. It is not possible to separate the autism from the person. Jim Sinclair (1993) ur first chapter will focus on understanding autism spectrum disor- O der (ASD) for one simple reason: Informed support leads to better outcomes. Although topics related to autism are frequently in the news, the disorder is not widely understood. Many people still perceive indi- viduals with autism based on movie depictions like Rain Man, Forrest Gump, Mozart and the Whale, and Adam. Although there is some truth to these depictions, each is really just a portrayal of one individual. To com- plicate matters, a student with autism may show little evidence of a dis- ability. The student is not using a brace or walking with a guide dog. He appears typical, with no physical evidence of a challenge. Despite outward appearances, the diagnosis leaves the student disconnected from others while distorting his perceptions of the world in which he lives. There is less tolerance in schools and society in general for disabilities that are hidden. It’s much harder for students and adults to understand differences they can’t see. The student with ASD senses things differently than his typical peers and may respond in unusual ways. As a result, the student is frequently misunderstood. Misunderstandings can lead to mistreatment, exclusion, and perhaps even abuse. Understanding 5 6 TEACHING ADOLESCENTS WITH AUTISM the range of potential characteristics of this disorder will empower you to be an effective advocate and teacher. -
And Neuropeptide Y-Immunoreactive Neurons in Rat and Monkey Neocortex’
0270.6474/84/0410-2497$02.00/O The Journal of Neuroscience Copyright 0 Society for Neuroscience Vol. 4, No. 10, pp. 2497-2517 Printed in U.S.A. October 1984 MORPHOLOGY, DISTRIBUTION, AND SYNAPTIC RELATIONS OF SOMATOSTATIN- AND NEUROPEPTIDE Y-IMMUNOREACTIVE NEURONS IN RAT AND MONKEY NEOCORTEX’ S. H. C. HENDRY,* E. G. JONES,*** AND P. C. EMSONS *James L. O’Leary Division of Experimental Neurology and Neurological Surgery and McDonnell Center for Studies of Higher Brain Function, Washington University School of Medicine, Saint Louis, Missouri 63110 and $ MRC Neurochemical Pharmacology Unit, Medical Research Council Centre, Hills Road, Cambridge CB2 2&H, England Received January 6,1984, Revised March 23,1934; Accepted March 30,1964 Abstract Neurons in the monkey and rat cerebral cortex immunoreactive for somatostatin tetradecapeptide (SRIF) and for neuropeptide Y (NPY) were examined in the light and electron microscope. Neurons immunoreactive for either peptide are found in all areas of monkey cortex examined as well as throughout the rat cerebral cortex and in the subcortical white matter of both species. In monkey and rat cortex, SRIF-positive neurons are morphologically very similar to NPY-positive neurons. Of the total population of SRIF-positive and NPY- positive neurons in sensory-motor and parietal cortex of monkeys, a minimum of 24% was immunoreactive for both peptides. Most cell bodies are small (8 to 10 pm in diameter) and are present through the depth of the cortex but are densest in layers II-III, in layer VI, and in the subjacent white matter. From the cell bodies several processes commonly emerge, branch two or three times, become beaded, and extend for long distances through the cortex. -
Autistic Adult and Non-Autistic Parent Advocates: Bridging the Divide
AUTHORS' VERSION Rottier, H. & Gernsbacher, M. A. (2020). Autistic adult and non-autistic parent advocates: Bridging the divide. In. A. C. Carey, J. M., Ostrove, & T. Fannon (Eds.) Disability alliances and allies (Research in social science and disability, Vol. 12, pp. 155-166). Emerald Publishing Limited. https://doi.org/10.1108/S1479-354720200000012011 Chapter 7 AUTISTIC ADULT AND NON-AUTISTIC PARENT ADVOCATES: BRIDGING THE DIVIDE Helen Rottier and Morton Ann Gernsbacher ABSTRACT Purpose: Due to the developmental nature of autism, which is often diagnosed in preschool or elementary school-aged children, non-autistic parents of autistic children typically play a prominent role in autism advocacy. How- ever, as autistic children become adults and adult diagnoses of autism continue to rise, autistic adults have played a more prominent role in advo- cacy. The purpose of this chapter is to explore the histories of adult and non-autistic parent advocacy in the United States and to examine the points of divergence and convergence. Approach: Because of their different perspectives and experiences, advocacy by autistic adults and non-autistic parents can have distinctive goals and conflicting priorities. Therefore, the approach we take in the current chapter is a collaboration between an autistic adult and a non-autistic parent, both of whom are research scholars. Findings: The authors explore the divergence of goals and discourse between autistic self-advocates and non-autistic parent advocates and offer three principles for building future -
Navigating the Pathway to Diagnosis and Care for Individuals with Autism Spectrum Disorder
Navigating the pathway to diagnosis and care for individuals with Autism Spectrum Disorder Nicholas Fears, Ph.D.; Karolina Kata, M.B.S., OMS-IV; Shannon Chang, OMS-III; Monica Nguyen, OMS-II; Abhinaya Ganesh, OMS-III; & Haylie Miller, Ph.D. July 20, 2019 Our Mission at UNTHSC: – Partner with stakeholders in the ASD community – Provide resources for individuals/families in need – Study sensorimotor function in ASD – Understand co-occurrence of ASD and other developmental disorders/conditions What to Expect Today: – Multiple short presentations that are all related – Some research data, some clinical evaluation – Lots of information in a short period of time – Many passionate, enthusiastic young scientists! ASD Diagnostic Criteria Social Communication Restricted, Repetitive Patterns & Social Interaction of Behavior or Interests Deficits in social or emotional Stereotyped motor behaviors reciprocity (hand flapping/rocking) Deficits in nonverbal communicative Insistence on sameness/routines behaviors (gestures/expressions) + Restricted interests abnormal in Deficits in developing, maintaining, intensity or focus & understanding relationships across multiple contexts Hyper- or hypo-reactivity to sensory (imaginative play/friendships) input or unusual sensory interest AND… Symptoms present in early development, cause clinically significant impairment, and are not better explained by intellectual disability or global developmental delay. Redefining Autism Spectrum Disorder (ASD): – Complex set of neurodevelopmental symptoms – Not just social