CEC Newsletter (Fall 2008).Pub

Total Page:16

File Type:pdf, Size:1020Kb

CEC Newsletter (Fall 2008).Pub COUNCIL FOR EXCEPTIONAL CHILDREN VIRGINIA CHAPTER VIRGINIA VOICE Fall 2008 Volume 1, Issue 1 “WHO’S WHO” AMONG VA CEC BOARD MEMBERS SPECIAL POINTS OF INTEREST: > “Who’s Who” Among VA CEC Board Members > October 2008 CEC Conference President President Elect Vice President Nicole Myers Karen Zawora Hope Jordan University of Mary Snowden Academy Regent University Washington [email protected] [email protected] [email protected] INSIDE THIS ISSUE: Treasurer CEC Board 1 Grace Zamora Duran Past President Secretary OSEP President’s Message 2 Norah Hooper [email protected] University of Mary Open Position Washington Leadership Roles 3 [email protected] 2008 Conference 4 Call for Articles 4 Conference Committee Chair/Newsletter Membership Chair Editor Sandra Mathis Governor-At-Large Andrea Beam Norfolk State University Regent University [email protected] Open Position [email protected] VIRGINIA VOICE Page 2 PRESIDENT’S MESSAGE BY NICOLE MYERS Welcome to Putting the Severe language prob- Solomon,” where VA Pieces Together: Vir- lems, Severe regulatory CEC members will hear ginia CEC’s 49th Annual problems, Down Syn- Dr. Solomon talk about Conference! drome, Fragile X Syn- autism in the community drome, Fetal Alcohol and include time for par- We are pleased to an- Syndrome, Cerebral ticipant questions. This nounce this year’s con- Palsy, Severe forms of free event co-sponsored ference theme: Putting Attention Deficit Disor- by University of Mary the Pieces Together! Our der, and Autism. Dr. Washington will allow theme serves as a simple Solomon has trained conference participants reminder that special hundreds of profession- and community members education encompasses als and families in work- the opportunity to speak many different issues at ing with children using with Dr. Solomon. An- all grade levels, from DIR/Floor-time through other change to this proper initial assessment, his program for children year’s conference in- research-based strate- with autism in Michigan. volves online registration gies/interventions, and While Floor-time has which will allow you to on-going assessments received a lot of media register using PayPal. and research to improve attention for benefits to (Dr. Solomon’s work- special education prac- young children with au- shops sell out quickly, so tice. We’re looking for- tism, it is a program for we encourage you to ward to hearing our key- all levels. Because of the register early to save a note speaker and work- individualized strategies, spot. We have a limited shop leader address these older children and those number of seats avail- issues, as well as hearing with a variety of disabili- able.) from our other presenters ties benefit from the on these very important model used in The Play This year, we will pro- special education topics. Project and DIR/Floor- vide conference partici- time. pants a schedule and Virginia CEC is de- materials to download lighted to have our key- After receiving feedback approximately one week “DIR/Floor-time has note speaker and work- from VA CEC members in advance of the confer- demonstrated benefits shop presenter, Dr. Rich- last year, you’ll notice ence via email, thus ena- for children with Severe ard Solomon. Dr. Solo- that we’ve made several bling participants to language problems, mon is a developmental/ changes to this year’s bring materials to the Severe regulatory behavioral pediatrician conference. The confer- conference. This helps us problems, Down who developed The Play ence was moved to Sat- to minimize paper waste Syndrome, Fragile X Project based on Dr. urday to allow as many and keeps costs down for Syndrome, Fetal Alcohol Stanley Greenspan’s DIR teachers and families to our participants. (Please Syndrome, Cerebral (Developmental, Indi- participate as possible. note that we will not be vidualized, Relationship- You will also note that distributing conference Palsy, Severe forms of Based)/Floor-time ap- we’ve added a workshop packets this year). Attention Deficit proach to working with to our conference, allow- Disorder, and Autism.” children. This approach ing our participants to We are looking to a fun- was developed after over choose between viewing filled, educational con- 20 years of research on a variety of sessions and ference and hope that typical child develop- attending the workshop. you can join us! Regis- ment and DIR/Floor-time In addition, we’ve sched- ter soon! has demonstrated bene- uled an event on Friday, fits for children with our “Evening with Dr. Page 3 VOLUME 1, ISSUE 1 CEC LEADERSHIP BY ANDREA BEAM The 2008-2009 VA-CEC President, and Governor- record of the proceed- officers have now been AT-Large ings of each meeting selected and are ready to of the Executive Com- mittee, the State/ serve! So you have a bet- • To represent the state/provincial unit Provincial Represen- ter idea of the roles and tative Assembly, and at meetings of the responsibilities of your other meetings con- board, I’ve included a brief CEC Representative ducted by the unit; position description on Assembly and to par- • To carry on correspon- each role. ticipate in balloting dence as necessary and other activities for the operation of If you are interested in necessary to the func- the state/provincial Secretary posi- tion is currently serving on the board, or tioning of the Repre- unit. open and accept- know someone who might sentative Assembly; ing letters of be a good candidate, Treasurer interest. please forward their name • To report regularly to • Oversees finances of the state/provincial and contact information to the organization unit Executive Com- Dr. Nicole Myers at • Develops a budget for [email protected]. mittee, State/ Board approval Provincial Board, • Pays bills President State/Provincial Rep- • Processes purchase • Schedules board resentative Assembly, orders meetings and general member- • Keeps documentation Please submit all ship on activities of of all transactions. letters of interest • Oversees planning of the CEC Representa- Membership Chair for open positions conference tive Assembly and CEC; • Maintains a distribu- to Nicole Myers, • Participates in selec- tion list of current VA VA-CEC President tion of award winners • To communicate is- CEC members sues and concerns • Keeps members in- • Participates in selec- from the state/ formed of important notices and events tion of conference provincial unit to the presenters CEC Representative • Brainstorms for ways to increase member- Assembly; • Welcome letter in ship newsletter. • To inform the state/ Newsletter Editor President Elect provincial unit about • Monitor CEC and the disposition of CEC other publications for • To serve in the place Representative As- information to be of, and with the au- sembly issues and thority of, the presi- included in the news- advice forwarded to dent in case of the letters. president's absence the CEC Board of or inability to serve; Directors; and • Provide the final edit- • To serve as chair of ing of material for the • To take other specific the Program Commit- newsletter. Governor-At-Large tee for the annual direction from the position is cur- meeting; state/provincial unit • Oversee the mechan- rently open and • To plan other meet- concerning the activi- ics of the newsletter accepting letters of interest. ings according to the ties of the CEC Repre- being printed and policies and directives sentative Assembly. mailed. of the Executive Com- mittee; and • Ensure that the news- Secretary letter is issued on Vice-President, Past- • To keep a careful time. Page 4 VOLUME 1, ISSUE 1 Putting the Pieces Together: Virginia CEC’s 49th Annual Conference Keynote Speaker and Workshop Leader: Dr. Richard Solomon Fredericksburg Hospitality House (former Holiday Inn) Central Park, Fredericksburg, VA October 3, 2008 What is Floortime? Greenspan developed this approach after researching typical child development for over 20 years and his exten- sive research indicates DIR/Floortime is beneficial for children with disabilities. Floortime has been successful with children with the following disabilities: Severe language problems, Severe regulatory problems, Down Syndrome, Fragile X Syndrome, Fe- tal Alcohol Syndrome, Cerebral Palsy, Severe forms of Attention Deficit Disorder, and Autism. What is DIR? The Developmental, Individualized, Relationship-based Model is actually the model and Floortime is one of the play- based approaches. What is The Play Project? The Play Project is a DIR program in Michigan, which has helped train parents and professionals to work with children with autism using the DIR/Floortime approach. Who can learn from the keynote and workshop? Everyone! We’re all aware of the dramatic increase in number of diagnoses of autism. Dr. Solomon will share the latest research on autism in his keynote address. Later, in The Play Project workshop, Dr. Solo- mon will share how professionals and families can be taught DIR/Floortime and The Play Project Model to meet the needs of stu- dents with disabilities. While his program focuses on students with autism, The Play Project model and DIR/Floortime can be used for students with disabilities at various ages. Don’t be mislead by the play in play-based, this effective strategy can be used for all ages! Intended Audience: Special Education Teachers (PreK-12), General Education Teachers, Parents, Community Agency Representa- tives, Physicians, Private Therapists, Early Intervention Staff, Speech Therapists, Occupational Therapists, and anyone interested in learning about play based approaches. Register Now: Go to: http://www.virginiacec.org/2008conference.htm. You can pay using your credit card or with a Paypal ac- count. You will receive a receipt. Conference materials will be available for download approximately one week before the confer- ence. For more information, see:Dr. Richard Solomon and The Play Project, http://playproject.org/ and Dr. Stanley Greenspan and DIR/ Floortime, http://www.floortime.org/index.php Now accepting articles for the Winter issue of Virginia Voice. If you have an article or “hot topic” that you would like included in the next issue of Virginia Voice, please send it to Andrea Beam at [email protected] no later than October 31, 2008.
Recommended publications
  • 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]
  • 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]
  • 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]
  • 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]
  • 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]
  • Understanding Autism
    Introduction As a parent, you may have many questions regarding diagnosis. As you look for answers, you may encounter information about autism, its causes, and possible treatments. All of these different opinions can make it challenging for a family to organize options and begin to choose a treatment plan that best fits the family. We hope that this packet will help better prepare you to understand the information you receive about treatments for autism, as well as give you the chance to look over the most recent professional opinions about autism. Westside Regional Center anticipates supporting your family as you proceed from your lifetime. What is Autism? How and why did my child develop autism Unfortunately, no apparent cause exists for most cases, but most experts believe that autism is primarily a genetic condition. For about 10% of cases, experts believe that autism has either a specific genetic (from parent to child) or environmental cause. For example, there is an increased risk for autism from specific genetic disorders such as Fragile X Syndrome, Angelman Syndrome, Tuberous Sclerosis, Rh untreated Phenylketonuria, and some chromosome abnormalities. Known environmental causes include taking thalidomide during pregnancy (a type of sedative now not routinely available in the United States) or having German measles (rubella) during pregnancy. There are three main behaviors that are found in all children with autism: 1. Difficulty with social interaction: Children with autism may not be able to relate easily to people, have a hard time playing with other children, or have certain behaviors, such as avoiding eye contact or making socially inappropriate gestures in conversation.
    [Show full text]
  • UNIVERSITY of CALIFORNIA Los Angeles Social
    UNIVERSITY OF CALIFORNIA Los Angeles Social Justice and Autism: Links to Personality and Advocacy A dissertation submitted in partial satisfaction of the requirements for the degree of Doctor of Philosophy in Education by Steven Kenneth Kapp 2016 © Copyright by Steven Kenneth Kapp 2016 ABSTRACT OF THE DISSERTATION Social Justice and Autism: Links to Personality and Advocacy by Steven Kenneth Kapp Doctor of Philosophy in Education University of California, Los Angeles, 2016 Professor Connie L. Kasari, Chair Autism’s history as an independent condition may originate from “autistic psychopathy”, but autism and psychopathy may entail opposite patterns of personality. Autism may incline people toward moral intuitions in the dimensions of care, loyalty, authority, sanctity, and especially fairness. Yet these may play an unconscious and visceral role that in combination with difficulties with moral reasoning and the understanding of one’s own and others’ emotional and mental states, reduces self- and other awareness of autistic people’s moral drives. Conversely, psychopathic people may have low moral values (particularly for care and fairness), yet usually strong moral reasoning skills, cognitive empathy, and mentalizing abilities. This contrast adds to the literature in part through emphasizing basic sensory and motor differences, in transaction with the social environment and life experience, as underlying these personality-relevant ii distinctions between autism and psychopathy. It thus attempts to embody both conditions, with the understanding that all behavior involves motor activity, and to think of both conditions as neurodevelopmental in their origins and early trajectories. Such an analysis raises the importance of strengths, as a matter of individual differences as well as influences from the environment, that can help to distinguish and even cause the conditions.
    [Show full text]
  • Females with Fragile X Syndrome: an Overview
    FEMALES WITH FRAGILE X SYNDROME: AN OVERVIEW By Ave M. Lachiewicz, MD Duke University Child Development Center Chapel Hill, NC 919-684-5513 Many articles have been written on females with Fragile X syndrome. The purpose of this article is to summarize some of what we know about females who carry the fragile X gene (or the FMR-1 gene). Early articles on fragile X syndrome reported that up to 30% of mothers of children with fragile X syndrome were mentally retarded. In those days there were no DNA studies, and chromosome studies were not accurate enough to detect all females with fragile X syndrome so the information was limited. The fact that so many mothers of children with fragile X syndrome were mentally retarded may not be surprising to lay people but it was to scientists because females with fragile X syndrome have two X chromosomes and only one of the chromosomes usually have an abnormal gene. Many scientists expected that the chromosome that did not carry the fragile X gene would have offered more protection to these women. This happens to be true for other genetic disorders that are associated with abnormalities of the X chromosome, like hemophilia. For some of us in medicine who have worked with other organ systems besides the brain, this information was very surprising, too -- after all if you lose a kidney you still function well because you have another kidney. If you lose a lobe of a lung, there are others. Clearly the systems in the brain that are affected by fragile X are not as expendable and a high percentage of women with fragile X syndrome have cognitive problems because they do not have two normal FMR1 genes.
    [Show full text]
  • Fragile X Syndrome
    European Journal of Human Genetics (2008) 16, 666–672 & 2008 Nature Publishing Group All rights reserved 1018-4813/08 $30.00 www.nature.com/ejhg PRACTICAL GENETICS In association with Fragile X syndrome Fragile X syndrome, an X-linked dominant disorder with reduced penetrance, is associated with intellectual and emotional disabilities ranging from learning problems to mental retardation, and mood instability to autism. It is most often caused by the transcriptional silencing of the FMR1 gene, due to an expansion of a CGG repeat found in the 50-untranslated region. The FMR1 gene product, FMRP, is a selective RNA-binding protein that negatively regulates local protein synthesis in neuronal dendrites. In its absence, the transcripts normally regulated by FMRP are over translated. The resulting over abundance of certain proteins results in reduced synaptic strength due to AMPA receptor trafficking abnormalities that lead, at least in part, to the fragile X phenotype. In brief Genetic testing for this repeat expansion is diagnostic for this syndrome, and testing is appropriate in all Fragile X syndrome is a common inherited form of children with developmental delay, mental retardation mental retardation that can be associated with features or autism. of autism. Fragile X syndrome is inherited from individuals, The physical features of fragile X syndrome are subtle usually females, who typically carry an unstable and may not be obvious. premutation allele of the CGG-repeat tract in The vast majority of cases of fragile X syndrome are FMR1. caused by the expansion to over 200 copies of a CGG Premutation carriers are themselves at risk of prema- repeat in the 50-untranslated region of FMR1 that shuts ture ovarian failure and the fragile X-associated tremor/ off transcription of the gene.
    [Show full text]
  • Early Negative Affect in Males and Females with Fragile X Syndrome: Implications for Anxiety and Autism
    University of South Carolina Scholar Commons Faculty Publications Psychology, Department of 9-13-2019 Early Negative Affect in Males and Females With Fragile X Syndrome: Implications for Anxiety and Autism Carla A. Will Abigail L. Hogan Elizabeth A. Will Samuel McQuillin Bridgette L. Kelleher See next page for additional authors Follow this and additional works at: https://scholarcommons.sc.edu/psyc_facpub Part of the Psychology Commons Author(s) Carla A. Will, Abigail L. Hogan, Elizabeth A. Will, Samuel McQuillin, Bridgette L. Kelleher, and Jane E. Roberts Wall et al. Journal of Neurodevelopmental Disorders (2019) 11:22 https://doi.org/10.1186/s11689-019-9284-y RESEARCH Open Access Early negative affect in males and females with fragile X syndrome: implications for anxiety and autism Carla A. Wall1* , Abigail L. Hogan1, Elizabeth A. Will1, Samuel McQuillin1, Bridgette L. Kelleher2 and Jane E. Roberts1 Abstract Background: Fragile X syndrome (FXS) is a genetic disorder that is highly comorbid with anxiety and autism spectrum disorder (ASD). Elevated negative affect in young children has been associated with increased risk for both anxiety and ASD; however, these relations remain poorly understood in FXS. Methods: The present prospective longitudinal study examined the trajectory of negative affect from infancy through preschool in males and females with FXS and typical development and its relation to anxiety and ASD. Results: Results indicate a complex association reflecting group, developmental, and sex effects. Specifically, the group with FXS displayed a trajectory of increasing negative affect across age that was distinct from the typical controls. This atypical trajectory of negative affect in FXS was driven by sex effects in that males showed lower negative affect during infancy followed by steep increases across the toddler and preschool years whereas the females displayed a flatter trajectory.
    [Show full text]