IACC 2010 Summary of Advances in ASD Research

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ABOUT THE IACC, The Interagency Autism Coordinating Committee IACC was established by. Congress under the Combating Autism Act of 2006 CAA to provide advice to the. Secretary of Health and Human Services HHS and coordinate all efforts within. HHS concerning autism spectrum disorders ASD, As mandated by law the IACC has a membership composed of Federal officials. from agencies involved in autism research and services and public members. including people with ASD parents of children and adults with ASD and. members of the autism advocacy and research community The diversity of the. Committee ensures that a broad range of views and opinions is reflected and. discussed in a public forum, Under the CAA the IACC is required to 1 develop and annually. update a Strategic Plan for ASD research 2 develop and annually. update a summary of advances in ASD research and 3 monitor. federal activities related to ASD, In developing and updating the IACC Strategic Plan for Autism Spectrum Disorder. Research first released in 2009 and subsequently updated in 2010 and 2011 the. IACC has laid out a framework for the pursuit of critical biomedical and services. research Through activities such as public meetings and workshops publication. of an annual Summary of Advances in ASD Research dissemination of. information regarding ASD research and IACC activities gathering of public input. and coordination of Federal activities related to autism the IACC continues in its. effort to provide guidance to the Department of Health and Human Services and. to reach out to the broader autism community to find ways to work together to. help people with autism and their families, For more information about the IACC see www iacc hhs gov.
TABLE OF CONTENTS,INTRODUCTION 1,ARTICLES SELECTED FOR THE SUMMARY OF ADVANCES. QUESTION 1 WHEN SHOULD I BE CONCERNED, IMPLEMENTING DEVELOPMENTAL SCREENING AND REFERRALS LESSONS LEARNED FROM A. NATIONAL PROJECT 1, CONSENSUS STATEMENT CHROMOSOMAL MICROARRAY IS A FIRST TIER CLINICAL DIAGNOSTIC TEST FOR. INDIVIDUALS WITH DEVELOPMENTAL DISABILITIES OR CONGENITAL ANOMALIES 2. AUTOMATED VOCAL ANALYSIS OF NATURALISTIC RECORDINGS FROM CHILDREN WITH AUTISM LANGUAGE. DELAY AND TYPICAL DEVELOPMENT 2, A PROSPECTIVE STUDY OF THE EMERGENCE OF EARLY BEHAVIORAL SIGNS OF AUTISM 3. QUESTION 2 HOW CAN I UNDERSTAND WHAT IS HAPPENING, EVALUATION DIAGNOSIS AND TREATMENT OF GASTROINTESTINAL DISORDERS IN INDIVIDUALS WITH ASDS.
A CONSENSUS REPORT, RECOMMENDATIONS FOR EVALUATION AND TREATMENT OF COMMON GASTROINTESTINAL PROBLEMS IN. CHILDREN WITH ASDS 4, DESCRIBING THE BRAIN IN AUTISM IN FIVE DIMENSIONS MAGNETIC RESONANCE IMAGING ASSISTED. DIAGNOSIS OF AUTISM SPECTRUM DISORDER USING A MULTIPARAMETER CLASSIFICATION APPROACH 5. MITOCHONDRIAL DYSFUNCTION IN AUTISM 5,NEURAL SIGNATURES OF AUTISM 6. A MODEL FOR NEURAL DEVELOPMENT AND TREATMENT OF RETT SYNDROME USING HUMAN INDUCED. PLURIPOTENT STEM CELLS 6, LONGITUDINAL MAGNETIC RESONANCE IMAGING STUDY OF CORTICAL DEVELOPMENT THROUGH EARLY. CHILDHOOD IN AUTISM 7, QUESTION 3 WHAT CAUSED THIS TO HAPPEN AND CAN IT BE PREVENTED.
MUTATIONS IN THE SHANK2 SYNAPTIC SCAFFOLDING GENE IN AUTISM SPECTRUM DISORDER AND MENTAL. RETARDATION 8, BLOOD MERCURY CONCENTRATIONS IN CHARGE STUDY CHILDREN WITH AND WITHOUT AUTISM 8. FUNCTIONAL IMPACT OF GLOBAL RARE COPY NUMBER VARIATION IN AUTISM SPECTRUM DISORDERS 9. ALTERED FUNCTIONAL CONNECTIVITY IN FRONTAL LOBE CIRCUITS IS ASSOCIATED WITH VARIATION IN THE. AUTISM RISK GENE CNTNAP2 10, QUESTION 4 WHICH TREATMENTS AND INTERVENTIONS WILL HELP. RANDOMIZED CONTROLLED TRIAL OF AN INTERVENTION FOR TODDLERS WITH AUTISM THE EARLY START. DENVER MODEL 11, RANDOMIZED CONTROLLED CAREGIVER MEDIATED JOINT ENGAGEMENT INTERVENTION FOR TODDLERS WITH. EVALUATION OF COMPREHENSIVE TREATMENT MODELS FOR INDIVIDUALS WITH AUTISM SPECTRUM. DISORDERS 12, EVIDENCE BASED PRACTICES IN INTERVENTIONS FOR CHILDREN AND YOUTH WITH AUTISM SPECTRUM. DISORDERS 13,QUESTION 5 WHERE CAN I TURN FOR SERVICES.
CAN STATE EARLY INTERVENTION PROGRAMS MEET THE INCREASED DEMAND OF CHILDREN SUSPECTED OF. HAVING AUTISM SPECTRUM DISORDERS 14, QUESTION 6 WHAT DOES THE FUTURE HOLD PARTICULARLY FOR ADULTS 15. QUESTION 7 WHAT OTHER INFRASTRUCTURE AND SURVEILLANCE NEEDS MUST BE MET. CHANGES IN AUTISM SPECTRUM DISORDER PREVALENCE IN 4 AREAS OF THE UNITED STATES 15. ARTICLES SELECTED FOR THE 2010 SUMMARY OF ADVANCES 16. FULL LISTING OF NOMINATED ARTICLES 19, INTERAGENCY AUTISM COORDINATING COMMITTEE ROSTER 25. OFFICE OF AUTISM RESEARCH COORDINATION STAFF ROSTER 27. IACC Summary of Advances in ASD Research 2010, THE 2010 IACC SUMMARY OF ADVANCES IN AUTISM SPECTRUM DISORDER RESEARCH. INTRODUCTION, As part of the Combating Autism Act of 2006 the members of the Interagency Autism Coordinating. Committee are required to develop an annual Summary of Advances to describe each year s top. advances in autism spectrum disorder research These advances represent significant progress in the. early diagnosis of ASD understanding the complex biology of the disorder and identifying potential risk. factors They may also relate to work identifying effective treatments and services and studies of the. national prevalence of ASD and necessary research infrastructure The 2010 Summary of Advances. provides short plain language synopses of the top twenty research breakthroughs selected by the. committee from a pool of 64 peer reviewed articles nominated by the members Articles are grouped. according to the questions of the IACC Strategic Plan for ASD Research available at www iacc hhs gov. Citations for the articles selected for the Summary of Advances as well as a complete listing of those. nominated are included at the end of the document, ARTICLES SELECTED FOR THE 2010 SUMMARY OF ADVANCES.
Question 1 Diagnosis When should I be concerned, Implementing developmental screening and referrals lessons learned from a national project. King TM Tandon SD Macias MM Healy JA Duncan PM Swigonski NL Skipper SM Lipkin PH Pediatrics. 2010 Feb 125 2 350 60, In 2006 the American Academy of Pediatrics AAP issued guidelines on developmental surveillance. and screening that included the recommendation that all children be screened for developmental. delays at 9 18 and 24 or 30 months of age In addition children who were identified as being at risk. should be referred for a detailed evaluation by a specialist and enrolled in early intervention. services In an effort to improve the adoption of their guidelines the AAP simultaneously launched a. project to assess how well the guidelines were being implemented in 17 diverse clinical settings The. study found that while most pediatricians conducted the regular developmental screenings. recommended by the AAP there could be significant improvement in the issuing and tracking of. referrals for children who fail screens Based on patient records from the monitored sites the. practices were successful in screening over 85 percent of patients who returned for appointments at. the recommended ages In phone interviews individuals working at the practices reported that the. high rate of screening was accomplished by delegating responsibilities among staff and actively. monitoring whether screens had taken place However several sites had difficulty consistently. screening children during busy periods or after periods of staff turnover Many practices also had. difficulty issuing and tracking referrals for children who were deemed to be at risk for. developmental delays 39 percent of children who failed screens never received the recommended. referrals to a specialist and an early intervention program When tracking did take place the. Interagency Autism Coordinating Committee 1,IACC Summary of Advances in ASD Research 2010. clinicians found that many parents had not followed through with the referrals Based on the. project the authors conclude that more focus should be placed on the referral process and. communicating with families about the reasons for the referrals. Consensus statement Chromosomal microarray is a first tier clinical diagnostic test for individuals. with developmental disabilities or congenital anomalies. Miller DT Adam MP Aradhya S Biesecker LG Brothman AR Carter NP Church DM Crolla JA Eichler EE. Epstein CJ Faucett WA Feuk L Friedman JM Hamosh A Jackson L Kaminsky EB Kok K Krantz ID Kuhn. RM Lee C Ostell JM Rosenberg C Scherer SW Spinner NB Stavropoulos DJ Tepperberg JH Thorland EC. Vermeesch JR Waggoner DJ Watson MS Martin CL Ledbetter DH Am J Hum Genet 2010 May. 14 86 5 749 64, An international consortium of geneticists recommended that chromosomal microarray assessment. CMA be used as the standard genetic test for diagnosing people with unexplained developmental. or intellectual delay autism spectrum disorders or birth defects Previously a test developed in the. 1970s called G banded karyotyping was the standard assessment used but a literature review. conducted by the consortium showed that CMA has greater sensitivity resulting in a greater. likelihood of diagnosis 3 diagnosis rate using G banded karyotyping compared to 15 20 using. CMA This is primarily because CMA has greater sensitivity for submicroscopic deletions and. insertions of DNA known as copy number variations Researchers were able to develop CMA after. the Human Genome Project was completed in 2000 and it has become a commonly ordered test for. patients with developmental concerns However formal best practice guidelines had yet to be. issued recommending CMA as a first tier diagnostic test The consortium concluded that CMA. should be used in place of G banded karyotyping as the genetic test for patients with unexplained. developmental or intellectual delay autism spectrum disorder or birth defects G banded. karyotyping should only be used by those who have obvious chromosomal syndromes such as Down. syndrome a family history of chromosomal rearrangement or a history of multiple miscarriages. Automated vocal analysis of naturalistic recordings from children with autism language delay and. typical development, Oller DK Niyogi P Gray S Richards JA Gilkerson J Xu D Yapanel U Warren SF Proc Natl Acad Sci U S A.
2010 Jul 27 107 30 13354 9, Researchers have developed technology assessing patterns of vocalization that can distinguish. children with ASD from others with a relatively high degree of accuracy Using a lightweight. recording device clipped to clothing researchers captured 1 486 day long recordings from children. diagnosed with ASD language delay and those who were developing typically The children in the. study ranged from 10 months to 4 years of age Investigators created a program that analyzes. patterns of speech or the cooing and babbling that precedes speech and is able to distinguish. children with ASD from their typically developing peers with 86 percent accuracy Of those with. developmental disorders children with ASD were reliably distinguished from children with language. 2 Interagency Autism Coordinating Committee,IACC Summary of Advances in ASD Research 2010. delay with 70 percent accuracy Vocalizations were assessed using 12 separate parameters but. investigators found that the most important factor for identification was the child s ability to. produce clear syllables through quick movements of the jaw and tongue The authors discuss the. potential for using automated analysis as a convenient and objective addition to diagnostic tests for. ASD and language delay Ultimately vocal analysis could help to decrease the average age of. diagnosis for children with ASD reported to be about 4 to 5 years of age in the United States. allowing children to start interventions earlier Future efforts will focus on fine tuning the. technology to better differentiate between different subgroups of language disorders. A prospective study of the emergence of early behavioral signs of autism. Ozonoff S Iosif AM Baguio F Cook IC Hill MM Hutman T Rogers SJ Rozga A Sangha S Sigman M. Steinfeld MB Young GS J Am Acad Child Adolesc Psychiatry 2010 Mar 49 3 256 66 e1 2. The study found that children with ASD generally do not show signs of the disorder at six months of. age but that a plateauing or loss of social skills is evident by the time they reach their first birthday. The finding suggests that behavioral symptoms of autism are not present at birth as hypothesized by. the man who first identified ASD Dr Leo Kanner but instead emerge after six months of age in most. instances The authors of the study note that there may be some cases where behavioral signs of. ASD are present at six months of age or earlier but that this pattern of onset is probably less. common than originally thought The researchers reached these conclusions by comparing the social. behavior of 25 infants who were ultimately diagnosed with ASD to that of 25 typically developing. infants Researchers observed the children at 6 12 18 24 and 36 months of age and coded the. frequency of specific types of social communication behavior e g gazing at faces social smiling. vocalizations directed at a listener etc The children showed no difference in social behavior at 6. months of age but by 12 months the majority of children with ASD had failed to gain new social. skills or had lost previously acquired ones Notably the majority of children with ASD showed a. gradual loss of specific social skills particularly between 6 and 18 months of age However this. subtle regression in development went unnoticed by most parents This demonstrates a critical flaw. 1970s called G banded karyotyping was the standard assessment used but a literature review conducted by the consortium showed that CMA has greater sensitivity resulting in a greater likelihood of diagnosis 3 diagnosis rate using G banded karyotyping compared to 15 20 using CMA This is primarily because CMA has greater sensitivity for submicroscopic deletions and insertions of DNA

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