Parental Reports of the Development of Autism in Their Children: the Relevance of Regression, Comorbidity, and Genetics in the Detection Ofearly Characteristics

Total Page:16

File Type:pdf, Size:1020Kb

Parental Reports of the Development of Autism in Their Children: the Relevance of Regression, Comorbidity, and Genetics in the Detection Ofearly Characteristics Virginia Commonwealth University VCU Scholars Compass Theses and Dissertations Graduate School 2003 Parental Reports of the Development of Autism in Their Children: The Relevance of Regression, Comorbidity, and Genetics in the Detection ofEarly Characteristics Robin Page Goin Virginia Commonwealth University Follow this and additional works at: https://scholarscompass.vcu.edu/etd Part of the Psychology Commons © The Author Downloaded from https://scholarscompass.vcu.edu/etd/1076 This Dissertation is brought to you for free and open access by the Graduate School at VCU Scholars Compass. It has been accepted for inclusion in Theses and Dissertations by an authorized administrator of VCU Scholars Compass. For more information, please contact [email protected]. College of Humanities and Sciences Virginia Commonwealth University This is to certify that the dissertation prepared by Robin P. Goin entitled Parental Reports of the Development of Autism in Their Children: The Relevance of Regression, Comorbidity, and Genetics in the Detection of Early Characteristics has been approved by her committee as satisfactory completion of the dissertation requirement for the degree of Doctor of Philosophy. ________________________________________________________________________ Barbara J. Myers, Ph.D., Director of Dissertation Department of Psychology ________________________________________________________________________ Pamela W. Garner, Ph.D., Committee Member Department of Psychology ________________________________________________________________________ Clarissa S. Holmes, Ph.D., Committee Member Department of Psychology ________________________________________________________________________ Donald Oswald, Ph.D., Committee Member Department of Psychiatry ________________________________________________________________________ Jane I. Carlson, Ph.D., Committee Member Department of Psychiatry ________________________________________________________________________ Laura E. Plybon, Ph.D., Committee Member Department of Psychology ________________________________________________________________________ Donelson R. Forsyth, Ph.D., Director of Graduate Studies ________________________________________________________________________ Stephen D. Gottfredson, Ph.D., Dean, College of Humanities and Sciences ________________________________________________________________________ F. Douglas Boudinot, Ph.D., Dean, School of Graduate Studies ________________________________________________________________________ Date © Robin P. Goin, 2003 All Rights Reserved Parental Reports of the Development of Autism in Their Children: The Relevance of Regression, Comorbidity, and Genetics in the Detection of Early Characteristics A dissertation submitted in partial fulfillment of the requirements for the degree of Doctor of Philosophy at Virginia Commonwealth University. by Robin P. Goin Master of Science, The University of Tennessee, Knoxville, May 2000 Bachelor of Arts, Texas Woman’s University, December 1995 Director: Barbara J. Myers, Ph.D. Associate Professor, Department of Psychology Virginia Commonwealth University Richmond, Virginia May, 2003 ii Acknowledgments First and foremost, I would like to thank my advisor and dissertation chair, Dr. Barbara Myers, not only for her contributions to this research project but for the outstanding mentorship that she has provided me and many other fortunate students. From the beginning of my academic career at VCU, she has been nothing but thoughtful, available, resourceful, supportive, encouraging, concerned, and entertaining. It is no wonder that she has earned the title of “mother hen” amongst her advisees. Barbara has always known both when to trust my independence and when to step in when I am lost; for that, I am expressly grateful, as it has truly fostered my professional growth. I would also like to thank my committee members, Dr. Donald Oswald, Dr. Pamela Garner, Dr. Clarissa Holmes, Dr. Jane Carlson, and Dr. Laura Plybon, for their alternative ideas and explanations, which have undoubtedly augmented this work, and for their timely flexibility. I also must add my appreciation for my boss and mentor at the Autism Registry, Dr. Robert Cohen, who has encouraged my thinking and growth in new directions as well as my love for writing. Secondly, I express gratitude toward the families who participated in this project. They have unselfishly shared their stories about their children with autism, hoping that their experiences may be helpful to others in similar situations. We cannot begin to understand this disorder without their unique perspectives and cooperation; I only hope that I do them justice both in this work and in future endeavors, as I am constantly amazed by their bravery, persistence, and faith. I am also thankful for my own family, both immediate and extended, who have been my most staunch supporters. From the time that I began school at age 3 until now, when I am 30, my parents, Jim and Angie, have fostered my goals without clouding them with their own desires for me. They have been incessantly curious about and encouraging of the directions I have taken. I am proud of their trust and belief in me, and, as I have said before, any courage that I may possess is born of their confidence in me. My sister, Randi, the dearest thing to my heart, has been my long-distance confidant. While I am so thankful for the many ways in which we connect, in light of this project, I feel especially glad that we both understand and enjoy very special children. Furthermore, I have been blessed with grandparents, aunts, uncles, and more cousins than I can count who have done nothing but love and cheer me on during my education away from home. They have supported me financially, emotionally, made sure that I had means home for the holidays, and even attended conferences with me. I am proud that I belong to them and that they belong to me; I love them all more than I have words to express. Additionally, I am wholeheartedly grateful for the friends and colleagues who have contributed either directly or indirectly to my progress in the program and this iii project. Heather, Kelli, and Kristine—you have always been there exactly as you said you would and as I needed you to be, performing a variety of professional and extracurricular roles, and I thank you for keeping my spirits on a perpetual high. I am also grateful to my friends at C.D. who have provided many a laugh, libation, and night of much-needed respite. Believe it or not, you, too, have contributed to my progress by helping to maintain my sanity. Finally, I would like to thank the many people who offered a myriad of unique assistance with this project—Brian for his web-building skills and patience with my endless questions and changes, Jessie for her knowledge of statistics and data-cleaning, David for organizing my online-data collection and for his patience with my infinite questions, the College of Humanities and Sciences’ IT guys (whom I affectionately refer to as the “computer gurus”) for helping me in many a technological pinch, Larry for his informational contributions in support of my desire to do online research, Jason for his knowledge of computer contacts on campus, and the folks at Alphagraphics, who clearly understood an emergency situation, for their professionalism and quality of product. I am very aware as I close this section that this work has been a group project in the truest sense of the concept. I could not have done this alone, and it would not be the same piece without the contributions and influences of all of the aforementioned parties. Thank you all. iv Table of Contents Page Acknowledgement .............................................................................................................. ii List of Tables .................................................................................................................... vii Abstract.............................................................................................................................. ix Chapter 1 Introduction........................................................................................................1 Incidence of Autism ......................................................................................2 Cultural and Family Influences on Autism ...................................................5 Earlier View That Autism Differed Across Racial and Economic Groups .....................................................................................................5 Cultural and Economic Concerns That Remain Relevant.......................7 Parents’ Construction of Beliefs About Their Children................................9 2 Review of the Literature ..................................................................................13 Value of Early Detection and Diagnosis .....................................................13 Research on Autism-Spectrum Traits in Infancy and Toddlerhood............15 Family Home Videos.............................................................................20 Early Screening Devices .......................................................................24 Parent Reports .......................................................................................29 Factors Influencing Early Detection............................................................34 v Autistic Regression................................................................................34 Comorbidity...........................................................................................37
Recommended publications
  • Issue 111 Special Needs
    Issue 111 INSIDE THIS ISSUE Bureau of Community and Special Needs Health Systems From the Division Direc- Child Care Licensing Division tor ................................... 1 www.michigan.gov/michildcare Social Emotional Skills .. 2 (866) 685-0006 Working with Children with Attention Deficit Disorder ......................... 3 Autism 101 ...................... 4 Children with Sensory Processing Disorder ....... 5 From My World to Your Classroom or Home ....... 8 Developmentally Appro- priate Behaviors and Ex- pectations ....................... 9 ADA……….………………..14 FROM THE DIVISION DIRECTOR 2018 is coming to a close very rapidly from Child Care Licensing’s point of view. You have been constantly emailed, sent list serve notices, called or mailed information about the changes we were implementing in 2018. Thanks for your patience as we all went through all of the changes! Background check implementation journey in 2018: • Since March 28th until today we have processed over 77,900 fingerprints of staff, household members and licensees in Michigan. Remember we had no idea how many people worked in child care when we started. The state has paid for almost $3 million dollars of background checks for the child care provid- ers. • The updated PA116 of 1973 finally passed in December of 2017 and went into effect March 28, 2018. We are processing the rule changes currently. • Our in-person trainings were carried out to thousands of child care staff across the entire state over the past 12 months • Our backlog of fingerprints were at over 16,000 just a couple of months ago and today we are down to less than 190. This reduction will allow hiring to be processed much faster for providers employers.
    [Show full text]
  • 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
    [Show full text]
  • VA CEC 2013 Conference Program
    The Virginia Federation of the Council for Exceptional Children Fall Conference Seeing the World Through the Spectrum Friday, November 18, 2016 Richmond, VA Presenting Dr. Temple Grandin Endorsed by the Virginia Department of Education Keynote Speaker: Dr. Temple Grandin Temple Grandin, Ph.D., is one of the most accomplished and well-known adults with autism in the world. Her life, with all its challenges and successes, was brought to the screen with the HBO full-length film Temple Grandin, starring Claire Danes. Dr. Grandin has been featured on NPR, and she has a 2010 TED Lecture titled "The World Needs ALL Kinds of Minds." She has also been featured on the BBC special “The Woman Who Thinks Like a Cow”, ABC's “Primetime Live”, “The Today Show” and more. Grandin developed her talents into a successful career as a livestock-handling equipment designer, one of very few in the world. She also speaks on both autism and cattle handling. Dr. Grandin's current bestselling book on autism is The Way I See It: A Personal Look at Autism and Asperger's. She also authored Unwritten Rules of Social Relationships; Animals Make Us Human; Animals in Translation; Thinking in Pictures; and Emergence: Labeled Autistic. Grandin is considered a philosophical leader of both the animal welfare and autism advocacy movements. Honored Guest: Dr. Patricia Abrams Director, Office of Special Education Instructional Services Division of Special Education and Student Services Virginia Department of Education Dr. Abrams serves as the Director of the Office of Special Education Instructional Services at the Virginia Department of Education.
    [Show full text]
  • 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%)
    [Show full text]
  • Integrating Treatment for Autism Spectrum Disorders Through the Life Cycle
    Integrating Treatment for Autism Spectrum Disorders Through the Life Cycle Robert L Hendren, DO Professor of Psychiatry and Behavioral Science Idaho Autism Summit November 2, 2019 Faculty Disclosure • Grants — Curemark, Roche, Otsuka • Advisory Board — Curemark, BioMarin, Janssen, Axial Biotherapeutics • Honoraria/Royalties: Oxford University Press, Taylor & Francis • Dr. Hendren does intend to discuss the use of off- label/unapproved use of drugs Learning Objectives • Identify successes and challenges in the developmental progression through the life cycle for people with developmental disabilities and their families • Identify and effectively treat comorbid medical, emotional and behavioral symptoms associated with autism spectrum disorders (ASD) • Consider integrating biomedical treatments for ASD including conventional psychotropic medication and what has been referred to as CAM/CIM into a comprehensive program. 2010 1 in 68; 2014 1 in 59 CDC Prevalence of Autism • Possible explanations include – Diagnostic expansion and substitution – Better reporting – Increased recognition – Increasing acceptability – Immigration for services – Environmental toxins – Infectious and immune vulnerability – Epigenetic processes Rutter M. Acta Pediatr. 2005;94(1):2-15. Centers for Disease Control and Prevention. Autism Spectrum Disorders. www.cdc.gov/ncbddd/autism. Accessed June 16, 2015. Hagerman R, Hendren RL (Eds). Treatment of Neurodevelopmental Disorders: Targeting Neurobiological Mechanisms. Oxford University Press; 2014. ASD Genetic Etiology (Levels 1 & 2) • Multiple genes: NRXN12q, 7q11.23, 15q11-13, 16p11.2, SHANK 3, 2, NLGN4, MTHFR 677>T, SEMA5A, 2Q22.1, GRIN2B, 5P14.1, CDH9, 10, FRX, PTEN • Identical twins: 60% to 90% – Fraternal twins: 0% to 36% – Siblings: 4% to 19% • Clear genetic etiology accounts for 25% of autism cases • Hundreds of genetic mutations, some de novo, lead to many ways to develop and treat autism • Is Precision Medicine Possible? Weiss KM, Issues Science and Technology in 2017 Levy D, et al.
    [Show full text]
  • 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.
    [Show full text]
  • 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.
    [Show full text]
  • 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.
    [Show full text]
  • Unravelling Autism
    Unravelling Autism • Preston Wiles M.D. • Professor, UTSWMC • Senior Attending, Autism Center Learning Objectives • Describe essential features of autism spectrum disorders • Overview of genetic factors in the disorder • Understand brain function related to core features of autism • Review features of epidemiology-is there an epidemic or not • Role of science/education vs. Myth/meme Autism Spectrum Disorders • Autistic Disorder • Pervasive Developmental Disorder NOS • Asperger’s Syndrome • Rett’s Disorder • Child Disintegrative Disorder • ALL become ASDs in DSM-V Historical Perspective • Feral children • Kanner-1943 Infantile Autism • Asperger-1944 Autistic Psychopathy • Rank-1949 Atypical Personality Autism Defined The Great Autism Researcher--Dr Seuss Thing One: Social Disability-intuitive understanding of others, feeling their feelings, social understanding, intersubjectivity Thing Two: Early Onset of neuro-developmental disorder (Stolen from Ami Klin) Core Features ASDs • Social impairment • Communication Deficits • Restricted interest/Repetitive Behaviors • Deficit/Deviance beyond IQ/developmental • Core Feature is SOCIAL Areas of Concern Social Impairment Restricted and Communication Repetitive M-CHAT screening • Pediatrics- all 18 and 24 month olds • Does your child take interest in other children? • Does your child ever use his/her body to point, to indicate interest? • Does your child smile in response to your smile? • Does your child respond to his/her name when called? • Does your child imitate you? • Does your child ever pretend,
    [Show full text]
  • 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
    [Show full text]
  • Regressive Autism: a Study in Early Developmental Patterns Rebekah L
    Southern Illinois University Carbondale OpenSIUC Research Papers Graduate School 5-2014 Regressive Autism: A Study In Early Developmental Patterns Rebekah L. Brewer Southern Illinois University Carbondale, [email protected] Follow this and additional works at: http://opensiuc.lib.siu.edu/gs_rp Recommended Citation Brewer, Rebekah L., "Regressive Autism: A Study In Early Developmental Patterns" (2014). Research Papers. Paper 465. http://opensiuc.lib.siu.edu/gs_rp/465 This Article is brought to you for free and open access by the Graduate School at OpenSIUC. It has been accepted for inclusion in Research Papers by an authorized administrator of OpenSIUC. For more information, please contact [email protected]. i REGRESSIVE AUTISM: A STUDY IN EARLY DEVELOPMENTAL PATTERNS by Rebekah L. Brewer B.S., Southern Illinois University, 2012 A Research Paper Submitted in Partial Fulfillment of the Requirements for the M.S. Communication Disorders & Science. Rehabilitation Institution In the Graduate School Southern Illinois University Carbondale May 2014 RESEARCH PAPER APPROVAL REGRESSIVE AUTISM: A STUDY IN EARLY DEVELOPMENTAL PATTERNS By Rebekah L. Brewer A Research Paper Submitted in Partial Fulfillment of the Requirements for the Degree of Master of Science in the field of Communication Disorders & Science Approved by: Valerie Boyer, Ph.D., CCC-SLP Kirsten Schaper, M.S., CCC-SLP Graduate School Southern Illinois University Carbondale November 11, 2013 TABLE OF CONTENTS CONTENT PAGE Introduction ...................................................................................................
    [Show full text]
  • A Functional MRI Study of Facial Emotion-Processing
    G C A T T A C G G C A T genes Article Autism in Fragile X Syndrome; A Functional MRI Study of Facial Emotion-Processing Andrew G. McKechanie 1,2,* , Sonya Campbell 1, Sarah E. A. Eley 1 and Andrew C. Stanfield 1,2 1 The Patrick Wild Centre, The University of Edinburgh, Edinburgh EH10 5HF, UK; [email protected] (S.C.); [email protected] (S.E.A.E.); andrew.stanfi[email protected] (A.C.S.) 2 NHS Lothian, Edinburgh EH1 3EG, UK * Correspondence: [email protected]; Tel.: +44-131-537-6000 Received: 1 November 2019; Accepted: 13 December 2019; Published: 17 December 2019 Abstract: Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability and autism spectrum disorder, and among those with fragile X syndrome, approximately 1/3rd meet a threshold for an autism spectrum disorder (ASD) diagnosis. Previous functional imaging studies of fragile X syndrome have typically focused on those with fragile X syndrome compared to either neurotypical or autism spectrum disorder control groups. Further, the majority of previous studies have tended to focus on those who are more intellectually able than is typical for fragile X syndrome. In this study, we examine the impact of autistic traits in individuals with fragile X syndrome on a paradigm looking at facial emotion processing. The study included 17 individuals with fragile X syndrome, of whom 10 met criteria for autism as measured by the Autism Diagnostic Observation Schedule (ADOS). Prior to the scan, participants rehearsed on a mock scanner to help acclimatize to the scanner environment and thus allow more severely affected individuals to participate.
    [Show full text]