Understanding Autism
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Autism Guideline Jan2018.Pdf
DATE: January 2018 TEXAS CHILDREN’S HOSPITAL EVIDENCE-BASED OUTCOMES CENTER Screening and Diagnosis of Autism Spectrum Disorder (ASD) Evidence-Based Guideline Definition: (1) Autism Spectrum Disorder (ASD) per the DSM-5 Early Signs (2,5,6) encompasses four previously separate disorders that are Social Skills Deficits actually a single condition with different levels of symptom Early years severity in two core domains. These four disorders are the - Do not appear to seek connectedness DSM-IV Autistic Disorder (autism), Asperger’s Disorder, - Contentbeingalone Childhood Disintegrative Disorder, and Pervasive - Ignore parents’ bids for attention Developmental Disorder Not Otherwise Specified (PDD-NOS). - Seldom make eye contact or bid for others’ attention ASD is characterized in early childhood by 1) deficits in social with gestures or vocalizations communication and social interaction and 2) restricted - Deficits in joint attention repetitive behaviors, interests, and activities (RRBs). - Fail to follow a point and/or share expression - Failto point to “comment” Etiology: (2) Although ASDs are heritable neurodevelopmental - Failtorespondtoname conditions with strong genetic underpinnings, their exact - Selective hearing etiology is unknown. The etiology is multifactorial with a variety - Less imitation of genetic and, to a lesser extent, environmental factors Later years playing a role. ASDs can be either idiopathic or associated with - Difficulty sharing the emotional state of others in other diagnoses; most are idiopathic. cooperative -
Overview of Biomedical Treatments Presentation
Folic Acid Decreases Risk of Autism 38%, if used early Schmidt et al 2013 – CHARGE study of 429 ASD families, 278 typical families Lower folic acid intake during first month of pregnancy in ASD moms (655 mcg vs 779); intake above 600 mcg associated with 38% decreased risk of ASD in children, and higher intake decreased risk more. Most important for mothers with MTHFR 677 C>T variant genotypes. Folic Acid decreases risk of ASD if taken near conception (cont.) Suren et al 2013 – study of 85,176 Norwegian children, including 270 with ASD. In children whose mothers took folic acid (400 mcg) between 4 weeks prior to conception to 8 weeks after conception, 0.10% (64/61 042) had autistic disorder, compared with 0.21% (50/24 134) in those unexposed to folic acid. 39% lower risk of ASD in those who took prenatal folic acid (400 mcg); Little benefit if taken after 8 weeks Overview of Dietary, Nutritional, and Medical Treatments for Autism James B. Adams, Ph.D. President’s Professor, Arizona State University President, Autism Society of Greater Phoenix President, Autism Nutrition Research Center Chair of Scientific Advisory Board, Neurological Health Foundation Father of a daughter with autism http://autism.asu.edu Our research group is dedicated to finding the causes of autism, how to prevent autism, and how to best help people with autism. Nutrition: vitamins, minerals, fatty acids, amino acids Metabolism: glutathione, methylation, sulfation, oxidative stress Mitochondria – ATP, muscle strength, carnitine Toxic Metals and Chelation Gastrointestinal -
Measuring the Effectiveness of Play As an Intervention to Support
Measuring the Effectiveness of Play as an Intervention to Support Language Development in Young Children with Autism Spectrum Disorder: A Hierarchically- Modeled Meta-Analysis by Gregory V. Boerio Submitted in Partial Fulfillment of the Requirements for the Degree of Doctor of Education in the Educational Leadership Program Youngstown State University May, 2021 Measuring the Effectiveness of Play as an Intervention to Support Language Development in Young Children with Autism Spectrum Disorder: A Hierarchically- Modeled Meta-Analysis Gregory V. Boerio I hereby release this dissertation to the public. I understand that this dissertation will be made available from the OhioLINK ETD Center and the Maag Library Circulation Desk for public access. I also authorize the University or other individuals to make copies of this thesis as needed for scholarly research. Signature: _______________________________________________________________ Gregory V. Boerio, Student Date Approvals: _______________________________________________________________ Dr. Karen H. Larwin, Dissertation Chair Date _______________________________________________________________ Dr. Patrick T. Spearman, Committee Member Date _______________________________________________________________ Dr. Carrie R. Jackson, Committee Member Date _______________________________________________________________ Dr. Matthew J. Erickson, Committee Member Date _______________________________________________________________ Dr. Salvatore A. Sanders, Dean of Graduate Studies Date ii © G. Boerio 2021 iii Abstract The purpose of the current investigation is to analyze extant research examining the impact of play therapy on the development of language skills in young children with autism spectrum disorder (ASD). As rates of ASD diagnoses continue to increase, families and educators are faced with making critical decisions regarding the selection and implementation of evidence-based practices or therapies, including play-based interventions, to support the developing child as early as 18 months of age. -
Fragile X Syndrome
AUCD Annual Conference Research Symposium The Rapidly Changing Landscape of Fragile X Elizabeth Berry-Kravis MD PhD Rush University Medical Center Disclosures: EBK has received funding from Neuropharm LTD, Seaside Therapeutics , Novartis and Roche Pharmaceuticals to consult on trial design and conduct clinical trials in FXS Features of Fragile X Syndrome • Physical: large prominent ears, long face, large head, prominent jaw and forehead, midfacial hypoplasia hyperflexible joints, large testis • Intellectual Disability or LD • Behavior problems: hyperactivity distractibility, anxiety, perseveration • Autism: 18-36% AD, 43-67% ASD • Seizures – 15% • Strabismus – 30% • Medical: otitis, sinus, MVP, reflux, sleep apnea, loose stools, allergies FXS Treatment in Clinic - Rush FXS Clinic since 1992 > 450 patients Supportive • Aggressive tx of otitis – • Early intervention tubes/audiology • Intensive speech therapy • Manage sleep apnea – • OT with sensory integration T&A • Inclusion in school as much • Treat sleep dysregulation as possible – melatonin/medications • Educational curriculum, • Yearly eye exams – environment, teaching style patching, surgery, glasses matched to FXS cognitive • Control seizures profile • Orthopedics if needed • Socialization program • Monitor for MVP/heart • Behavior plan • Genetic counseling • Behavior medications for • Discuss reproductive ADD/anxiety options Seizures in Fragile X Syndrome – Recent and Largest Study National Fragile X Survey 1394 FXS full mutation (1090 M, 304 F) 173 (12%) seizures: 154 (14%) -
The Fragile X Syndrome and Infantile Autism: a Prevalence Study Brian Herb Annex Yale University
Yale University EliScholar – A Digital Platform for Scholarly Publishing at Yale Yale Medicine Thesis Digital Library School of Medicine 1985 The fragile X syndrome and infantile autism: a prevalence study Brian Herb Annex Yale University Follow this and additional works at: http://elischolar.library.yale.edu/ymtdl Recommended Citation Annex, Brian Herb, "The fragile X syndrome and infantile autism: a prevalence study" (1985). Yale Medicine Thesis Digital Library. 2345. http://elischolar.library.yale.edu/ymtdl/2345 This Open Access Thesis is brought to you for free and open access by the School of Medicine at EliScholar – A Digital Platform for Scholarly Publishing at Yale. It has been accepted for inclusion in Yale Medicine Thesis Digital Library by an authorized administrator of EliScholar – A Digital Platform for Scholarly Publishing at Yale. For more information, please contact [email protected]. YALE MEDICAL LIBRARY Permission for photocopying or microfilming of " TU (title of thesis) tr for the purpose of individual scholarly consultation or refer¬ ence is hereby granted by the author. This permission is not to be interpreted as affecting publication of this work, or otherwise placing it in the public domain, and the author re¬ serves all rights of ownership guaranteed under common law protection of unpublished manuscripts. (Signature of author) (Printed name) (Date) Digitized by the Internet Archive in 2017 with funding from The National Endowment for the Humanities and the Arcadia Fund https://archive.org/details/fragilexsyndromeOOanne The Fragile X Syndrome and Infantile Autism A Prevalence Study A Thesis Submitted to the Yale University School of Medicine in Partial Fulfillment of the Requirements for the degree of Doctor of Medicine by Brian Herb Annex 1985 Acknowledgments I would like to express my sincere appreciation to all those who advised and assisted me in this thesis project. -
Environmental and Genetic Factors in Autism Spectrum Disorders: Special Emphasis on Data from Arabian Studies
International Journal of Environmental Research and Public Health Review Environmental and Genetic Factors in Autism Spectrum Disorders: Special Emphasis on Data from Arabian Studies Noor B. Almandil 1,† , Deem N. Alkuroud 2,†, Sayed AbdulAzeez 2, Abdulla AlSulaiman 3, Abdelhamid Elaissari 4 and J. Francis Borgio 2,* 1 Department of Clinical Pharmacy Research, Institute for Research and Medical Consultation (IRMC), Imam Abdulrahman Bin Faisal University, Dammam 31441, Saudi Arabia; [email protected] 2 Department of Genetic Research, Institute for Research and Medical Consultation (IRMC), Imam Abdulrahman Bin Faisal University, Dammam 31441, Saudi Arabia; [email protected] (D.N.A.); [email protected] (S.A.) 3 Department of Neurology, College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam 31441, Saudi Arabia; [email protected] or [email protected] 4 Univ Lyon, University Claude Bernard Lyon-1, CNRS, LAGEP-UMR 5007, F-69622 Lyon, France; [email protected] * Correspondence: [email protected] or [email protected]; Tel.: +966-13-333-0864 † These authors contributed equally to this work. Received: 26 January 2019; Accepted: 19 February 2019; Published: 23 February 2019 Abstract: One of the most common neurodevelopmental disorders worldwide is autism spectrum disorder (ASD), which is characterized by language delay, impaired communication interactions, and repetitive patterns of behavior caused by environmental and genetic factors. This review aims to provide a comprehensive survey of recently published literature on ASD and especially novel insights into excitatory synaptic transmission. Even though numerous genes have been discovered that play roles in ASD, a good understanding of the pathophysiologic process of ASD is still lacking. -
The Fragile X Syndrome–Autism Comorbidity: What Do We Really Know?
REVIEW ARTICLE published: 16 October 2014 doi: 10.3389/fgene.2014.00355 The fragile X syndrome–autism comorbidity: what do we really know? Leonard Abbeduto 1,2*, Andrea McDuffie 1,2 and Angela John Thurman 1,2 1 MIND Institute, University of California, Davis, Sacramento, CA, USA 2 Department of Psychiatry and Behavioral Sciences, University of California, Davis, Sacramento, CA, USA Edited by: Autism spectrum disorder (ASD) is a common comorbid condition in people with fragile Anne C. Wheeler, Carolina Institute X syndrome (FXS). It has been assumed that ASD symptoms reflect the same underlying for Developmental Disabilities; University of North Carolina at psychological and neurobiological impairments in both FXS and non-syndromic ASD, which Chapel Hill, USA has led to the claim that targeted pharmaceutical treatments that are efficacious for core Reviewed by: symptoms of FXS are likely to be beneficial for non-syndromic ASD as well. In contrast, we Molly Losh, Northwestern present evidence from a variety of sources suggesting that there are important differences University, USA in ASD symptoms, behavioral and psychiatric correlates, and developmental trajectories Dejan Budimirovic, Kennedy Krieger Institute/The Johns Hopkins between individuals with comorbid FXS and ASD and those with non-syndromic ASD. We University, USA also present evidence suggesting that social impairments may not distinguish individuals *Correspondence: with FXS with and without ASD. Finally, we present data that demonstrate that the Leonard Abbeduto, MIND Institute, neurobiological substrates of the behavioral impairments, including those reflecting core University of California, Davis, 2825 ASD symptoms, are different in FXS and non-syndromic ASD. Together, these data suggest 50th Street, Sacramento, CA 95817, USA that there are clinically important differences between FXS and non-syndromic ASD e-mail: leonard.abbeduto@ucdmc. -
Autism Handout
Autism, a Pervasive Dilemma Developed by Alan Ascher New York State Biology-Chemistry Professional Development Network For the My Environment, My Health, My Choices project University of Rochester Rochester, NY Abstract: Research suggests that autism may be due to a combination of environmental factors which impact genetic information and lead to errors in the development process during gestation. Students explore autism and engage in research on the causes of autism through problem- based learning and a Web Quest. They will create an informational brochure based on their research findings. My Environment, My Health, My Choices 1 © 2006, University of Rochester May be copied for classroom use Table of Contents Pre/Post Test 3-4 Pre/Post Test Answer Key 5-6 Learning Context 7 Procedure 8 Instructions for Implementing the Problem-Based Learning Activity 9 PBL Chart 10 Problem-Based Learning Activity 11-14 WebQuest 15-16 Informational Brochure 17 New York State Learning Standards 18 Teachers, we would appreciate your feedback. Please complete our brief, online Environmental Health Science Activity Evaluation Survey after you implement these lessons in your classroom. The survey is available online at: www.surveymonkey.com/s.asp?u=502132677711 My Environment, My Health, My Choices 2 © 2006, University of Rochester May be copied for classroom use (Student Pre/Post Test) Name _________________________________ Class _____ 1. Autism is most likely caused by 1. poor parenting when a child is young 2. a specific environmental chemical 3. poor nutrition 4. the exact cause of autism in not yet known 2. Some scientists believe that autism results from changes in the “brain stem” that are caused by gene mutations in the HOXA 1 gene. -
Clinical Report—Health Supervision for Children with Fragile X Syndrome
Guidance for the Clinician in Rendering Pediatric Care Clinical Report—Health Supervision for Children With Fragile X Syndrome Joseph H. Hersh, MD, Robert A. Saul, MD, and COMMITTEE abstract ON GENETICS Fragile X syndrome (an FMR1–related disorder) is the most commonly KEY WORDS fragile X syndrome, FMR1–related conditions, mental inherited form of mental retardation. Early physical recognition is dif- retardation, health guidelines ficult, so boys with developmental delay should be strongly considered ABBREVIATIONS for molecular testing. The characteristic adult phenotype usually does FMR1—fragile X mental retardation 1 gene not develop until the second decade of life. Girls can also be affected CGG—cytosine-guanine-guanine FMRP—fragile X mental retardation 1 protein with developmental delay. Because multiple family members can be mGluR—metabotropic glutamate receptor affected with mental retardation and other conditions (premature POI—primary ovarian insufficiency ovarian failure and tremor/ataxia), family history information is of FXTAS—fragile X–associated tremor/ataxia syndrome critical importance for the diagnosis and management of affected pa- This document is copyrighted and is property of the American tients and their families. This report summarizes issues for fragile X Academy of Pediatrics and its Board of Directors. All authors have filed conflict of interest statements with the American syndrome regarding clinical diagnosis, laboratory diagnosis, genetic Academy of Pediatrics. Any conflicts have been resolved through counseling, related health problems, behavior management, and age- a process approved by the Board of Directors. The American related health supervision guidelines. The diagnosis of fragile X syn- Academy of Pediatrics has neither solicited nor accepted any commercial involvement in the development of the content of drome not only involves the affected children but also potentially has this publication. -
Fragile X Syndrome
Fragile X syndrome What is fragile X syndrome? Fragile X syndrome is an X-linked disease of intellectual disability with variable severity.1 Expansions of CGG repeat sequences in the FMR1 gene account for 99% of mutations causing fragile X syndrome. Interpretation of CGG repeat expansion results is based on the following ranges: Negative: <45 repeats; intermediate: 45-54 repeats; premutation: 55-200 repeats; full mutation: >200 repeats. Greater than 99% of males and approximately 50% of females with the full mutation are intellectually disabled.2 What are the symptoms of fragile X syndrome and what treatment is available? Fragile X syndrome is associated with a range of symptoms. Early signs include delayed speech and language skills.1 Intellectual problems vary from mild learning disabilities to severe intellectual disability.3 Behavioral characteristics include autism and hyperactivity.1 Physical features, such as a long face and large or prominent ears, are usually more noticeable in adults than in children, and in males more than females.3 There is no cure for fragile X syndrome. Treatment is supportive and focuses on educational and behavioral support and management of symptoms.2 Individuals with a premutation do not have fragile X syndrome, but may have an increased risk for fragile X-related disorders. Females may have fragile X-associated primary ovarian insufficiency (FXPOI), which can cause infertility or early menopause. Most males with a premutation and some females are at risk for fragile X-associated tremor and ataxia syndrome -
REVIEW ARTICLE the Genetics of Autism
REVIEW ARTICLE The Genetics of Autism Rebecca Muhle, BA*; Stephanie V. Trentacoste, BA*; and Isabelle Rapin, MD‡ ABSTRACT. Autism is a complex, behaviorally de- tribution of a few well characterized X-linked disorders, fined, static disorder of the immature brain that is of male-to-male transmission in a number of families rules great concern to the practicing pediatrician because of an out X-linkage as the prevailing mode of inheritance. The astonishing 556% reported increase in pediatric preva- recurrence rate in siblings of affected children is ϳ2% to lence between 1991 and 1997, to a prevalence higher than 8%, much higher than the prevalence rate in the general that of spina bifida, cancer, or Down syndrome. This population but much lower than in single-gene diseases. jump is probably attributable to heightened awareness Twin studies reported 60% concordance for classic au- and changing diagnostic criteria rather than to new en- tism in monozygotic (MZ) twins versus 0 in dizygotic vironmental influences. Autism is not a disease but a (DZ) twins, the higher MZ concordance attesting to ge- syndrome with multiple nongenetic and genetic causes. netic inheritance as the predominant causative agent. By autism (the autistic spectrum disorders [ASDs]), we Reevaluation for a broader autistic phenotype that in- mean the wide spectrum of developmental disorders cluded communication and social disorders increased characterized by impairments in 3 behavioral domains: 1) concordance remarkably from 60% to 92% in MZ twins social interaction; 2) language, communication, and and from 0% to 10% in DZ pairs. This suggests that imaginative play; and 3) range of interests and activities. -
Evidence-Based Interventions for Autism Spectrum Disorders
Evidence-Based Interventions for Autism Spectrum Disorders Scott Lindgren, Ph.D. Alissa Doobay, Ph.D. May 2011 This research was completed for the Iowa Department of Human Services by the Center for Disabilities and Development of the University of Iowa Children’s Hospital. The views expressed are the independent products of university research and do not necessarily represent the views of the Iowa Department of Human Services or The University of Iowa. TABLE OF CONTENTS PREFACE ………………………………………………………………………………… 3 DEFINING AUTISM SPECTRUM DISORDERS (ASD) ……………………………... 4 ASSESSMENT OF AUTISM SPECTRUM DISORDERS ……………………………... 6 INTERVENTIONS FOR AUTISM SPECTRUM DISORDERS .……………………… 9 Need for Evidence-Based Interventions ……………………………………… 9 Identifying Effective Interventions …………………………………………… 9 Basic Principles of Effective Early Intervention …………………………….. 10 Research on ASD Interventions ………………………………………………. 11 Interventions Supported by Significant Scientific Evidence ……………….. 12 Applied Behavior Analysis (ABA) …………………………….……….… 12 Early Intensive Interventions ………………………………...…………... 14 Social Skills Training ……………………………………………………... 14 Cognitive-Behavioral Therapy ……………………………………...…….. 15 Medication ……………………………………………………………....... 15 Other Evidence-Based Interventions ……………………………………... 16 Interventions with Promising or Emerging Evidence ………………………. 17 Interventions with Limited Scientific Evidence ……………………………… 17 Interventions that are Not Recommended ……………………..…………….. 20 Using these Findings for Treatment Planning ……………………………….. 20 SUMMARY