Skúsenosti Žien S Poruchou Autistického Spektra So Získaním Diagnózy V Dospelom Veku: Význam Diagnostiky a Jej Súčasný Stav

Total Page:16

File Type:pdf, Size:1020Kb

Skúsenosti Žien S Poruchou Autistického Spektra So Získaním Diagnózy V Dospelom Veku: Význam Diagnostiky a Jej Súčasný Stav Masarykova univerzita Filozofická fakulta Psychologický ústav Bakalárska práca Skúsenosti žien s poruchou autistického spektra so získaním diagnózy v dospelom veku: Význam diagnostiky a jej súčasný stav Erika Zbiňovská Vedúca práce: Mgr. Helena Klimusová, Ph.D. Brno, 2021 Abstrakt Jednou z tém súčasného výskumu porúch autistického spektra je porozumenie špecifikám autizmu u žien. Mnoho z nich je diagnostikovaných neskoro, preto si táto práca kladie za cieľ fenomenologicky predstaviť skúsenosti štyroch respondentiek so získaním diagnózy v dospelosti. Teoretická časť práce sa zaoberá definovaním porúch autistického spektra, prevalenciou a etiológiou, genderovými odlišnosťami, stratégiou sociálneho kamuflovania a tým, aké postupy a nástroje sa v súčasnosti využívajú pri diagnostikovaní autizmu. Za využitia interpretatívnej fenomenologickej analýzy bolo identifikovaných dohromady 8 hlavných tém: vnímanie vlastných zvláštností pred diagnostikou, ukrývanie svojho autentického ja, prežívanie neistoty, skúsenosť s diagnostikou, úľava v zmysle oslobodenia sa, opätovná strata slobody, skúsenosť s podpornými skupinami pre ľudí s PAS a prijímanie znovuobjavenej identity. Abstract One of the topics in current research on autism spectrum disorders is understanding the nature of autism in women. Many of them are diagnosed late, for this reason this bachelor’s thesis aims to phenomenologically present the experiences of four female respondents who received diagnosis in adulthood. The theoretical part of the thesis deals with the definition of autism spectrum disorders, their prevalence and etiology, gender differences, social camouflaging strategy and what practices and tools are currently used in the process of diagnosing autism. Using interpretative phenomenological analysis, a total of eight main topics were identified: perceiving one’s own peculiarities prior to being diagnosed, hiding one’s authentic self, experiencing uncertainty, experience with diagnostic process, relief in sense of liberation, repeated loss of freedom, experience with support groups for people with ASD and acceptance of rediscovered identity. Kľúčové slová autizmus u žien, diagnóza autizmu, neskorá diagnostika, interpretatívna fenomenologická analýza Key words autism in women, autism diagnosis, late diagnosis, Interpretative Phenomenological Analysis Čestné prehlásenie Prehlasujem, že som záverečnú bakalársku prácu vypracovala samostatne. Všetky zdroje, ktoré som pri písaní tejto práce použila, sú uvedené v zozname literatúry podľa predpisov Masarykovej univerzity. V Brne 3. mája 2021 Erika Zbiňovská Poďakovanie Za vedenie práce, cenné pripomienky a ľudský a povzbudivý prístup ďakujem Mgr. Helene Klimusovej, PhD. Za ochotu a podnetnú konzultáciu ohľadom interpretatívnej fenomenologickej analýzy som vďačná Mgr. Barbare Lášticovej, PhD. Veľká vďaka taktiež patrí všetkým zúčastneným respondentkám za ich dôveru, ochotu a otvorenosť v zdieľaní ich životných skúseností. Dlhodobo a hlboko vďačná som svojej rodine a blízkym za to, že sú, a že sú práve takí, akí sú. Aj vďaka nim som nazberala dostatok odvahy na chopenie sa témy, ktorú považujem za mimoriadne dôležitú. Zoznam použitých skratiek AS – Aspergerov syndróm DSM – Diagnostic and Statistical Manual of Mental Disorders IPA – Interpretatívna fenomenologická analýza MKN – Mezinárodní klasifikace nemocí PAS – Poruchy autistického spektra Obsah Úvod ................................................................................................................................................ 8 1. Definovanie porúch autistického spektra ................................................................................ 9 1.1. Z histórie ............................................................................................................................. 10 1.2. Súčasná klasifikácia ............................................................................................................ 12 1.2.1. MKN-10 / DSM-5 ....................................................................................................... 13 1.2.2. Triáda autizmu ............................................................................................................. 16 1.2.2.1. Sociálne interakcie a sociálne správanie .............................................................. 17 1.2.2.2. Komunikácia ......................................................................................................... 18 1.2.2.3. Predstavivosť, záujmy, hra ................................................................................... 19 1.2.3. Nešpecifické variabilné rysy ....................................................................................... 19 2. Prevalencia................................................................................................................................. 20 2.1. Pomer pohlaví ................................................................................................................. 21 3. Etiológia .................................................................................................................................... 22 4. Genderové špecifiká .................................................................................................................. 23 4.1. Neurologický profil ............................................................................................................ 23 4.2. Behaviorálne charakteristiky .............................................................................................. 25 5. Sociálne kamuflovanie .............................................................................................................. 26 5.1. Príčiny kamuflovania .......................................................................................................... 27 5.2. Dôsledky kamuflovania ...................................................................................................... 27 6. Súčasný priebeh diagnostiky ..................................................................................................... 29 6.1. Diagnostický proces u detí ................................................................................................. 29 6.1.1. Screening autizmu ....................................................................................................... 30 6.1.2. Diagnostické nástroje .................................................................................................. 31 6.2. Diagnostický proces u dospelých ....................................................................................... 32 6.2.1. Diagnostické nástroje určené pre dospelých ............................................................... 33 6.3. Girls‘ Questionnaire For Autism Spectrum Conditions ..................................................... 35 7. Výskumný cieľ .......................................................................................................................... 36 7.1. Osnova otázok .................................................................................................................... 36 8. Metóda výskumu ....................................................................................................................... 37 8.1. IPA – charakteristika .......................................................................................................... 37 8.2. Metóda zberu dát ................................................................................................................ 40 8.3. Výskumný súbor ................................................................................................................. 41 8.4. Etika výskumu .................................................................................................................... 42 8.5. Subjektívny vzťah k téme ................................................................................................... 42 8.6. Postup analýzy dát .............................................................................................................. 44 9. Výsledky .................................................................................................................................... 44 9.1. Popis skúseností jednotlivých prípadov ............................................................................. 45 9.2. Analýza hlavných tém ........................................................................................................ 53 9.2.1. Vnímanie vlastných zvláštností pred diagnostikou ..................................................... 53 9.2.2. Ukrývanie svojho autentického ja ............................................................................... 55 9.2.3. Prežívanie neistoty ....................................................................................................... 57 9.2.4. Skúsenosť s diagnostikou ............................................................................................ 58 9.2.5. Úľava v zmysle oslobodenia sa ................................................................................... 60 9.2.6. Opätovná strata slobody .............................................................................................. 63 9.2.7. Skúsenosť s podpornými skupinami pre ľudí s PAS ................................................... 65 9.2.8. Prijímanie znovuobjavenej identity ............................................................................. 67 10. Diskusia ..................................................................................................................................
Recommended publications
  • Social Visual Engagement in Infants and Toddlers
    Social visual engagement in infants and toddlers with autism: Early developmental transitions and a model of pathogenesis Ami Klin, Emory University Sarah Shultz, Emory University Warren Jones, Emory University Journal Title: Neuroscience and Biobehavioral Reviews Volume: Volume 50 Publisher: Elsevier | 2015-03-01, Pages 189-203 Type of Work: Article | Post-print: After Peer Review Publisher DOI: 10.1016/j.neubiorev.2014.10.006 Permanent URL: https://pid.emory.edu/ark:/25593/tr36g Final published version: http://dx.doi.org/10.1016/j.neubiorev.2014.10.006 Copyright information: © 2014 Elsevier Ltd.All rights reserved This is an Open Access work distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License (http://creativecommons.org/licenses/by-nc-nd/4.0/). Accessed September 26, 2021 1:30 PM EDT HHS Public Access Author manuscript Author Manuscript Author ManuscriptNeurosci Author Manuscript Biobehav Rev. Author Manuscript Author manuscript; available in PMC 2016 March 01. Published in final edited form as: Neurosci Biobehav Rev. 2015 March ; 0: 189–203. doi:10.1016/j.neubiorev.2014.10.006. Social visual engagement in infants and toddlers with autism: Early developmental transitions and a model of pathogenesis Ami Klin*, Sarah Shultz, and Warren Jones Marcus Autism Center, Children's Healthcare of Atlanta & Emory University School of Medicine, 1920 Briarcliff Rd NE, Atlanta, GA 30329, United States Abstract Efforts to determine and understand the causes of autism are currently hampered by a large disconnect between recent molecular genetics findings that are associated with the condition and the core behavioral symptoms that define the condition.
    [Show full text]
  • Autism: an Epigenomic Side-Effect of Excessive Exposure to Electromagnetic Fields
    Vol. 5(4), pp. 171-177, April 2013 DOI: 10.5897/IJMMS12.135 International Journal of Medicine ISSN 2006-9723 ©2013 Academic Journals http://www.academicjournals.org/IJMMS and Medical Sciences Full Length Research Paper Autism: An epigenomic side-effect of excessive exposure to electromagnetic fields Yog Raj Ahuja1*, Sanjeev Sharma2 and Bir Bahadur3 1Department of Genetics and Molecular Medicine, Vasavi Medical and Research Centre, 6-1-91, Khairatabad, Hyderabad 500004, India. 2Department of Clinical Pharmacology, Apollo Hospital, Jubillee Hills, Hyderabad, 500033, India. 3Department of Genetics, Shadan College, Khairatabad, Hyderabad 500004, India. Accepted 27 February, 2013 Autism is a disorder which mainly involves the nervous system. It is characterized by lack of communication, incoherent language and meaningless repetitive movements. Its onset is in early childhood and its incidence has been reported to be increasing. Several genes and environmental factors have been implicated in the causation of autism, and electromagnetic fields may be one of those environmental factors. Industrialization has added a large number of electronic gadgets around us. Indiscriminate use of these gadgets, particularly mobile phones, has raised the question of electropollution and health hazard caused by their usage. Electromagnetic fields emitted during their operation do not have enough energy to cause DNA alterations directly; however, ample evidence is available from in vitro and in vivo studies to demonstrate their ability to cause DNA alterations indirectly as well as epigenetic modifications. In addition to genetic alterations, the epigenetic modifications may have an important role in causing disruption of the nervous system leading to neurodegenerative disorders, including autism. Key words: Autism, neurodegenerative disorders, epigenome, electromagnetic fields, electronic gadgets, mobile phones.
    [Show full text]
  • An Overview of the Main Genetic, Epigenetic and Environmental Factors Involved in Autism Spectrum Disorder Focusing on Synaptic Activity
    International Journal of Molecular Sciences Review An Overview of the Main Genetic, Epigenetic and Environmental Factors Involved in Autism Spectrum Disorder Focusing on Synaptic Activity 1, 1, 1 2 Elena Masini y, Eleonora Loi y, Ana Florencia Vega-Benedetti , Marinella Carta , Giuseppe Doneddu 3, Roberta Fadda 4 and Patrizia Zavattari 1,* 1 Department of Biomedical Sciences, Unit of Biology and Genetics, University of Cagliari, 09042 Cagliari, Italy; [email protected] (E.M.); [email protected] (E.L.); [email protected] (A.F.V.-B.) 2 Center for Pervasive Developmental Disorders, Azienda Ospedaliera Brotzu, 09121 Cagliari, Italy; [email protected] 3 Centro per l’Autismo e Disturbi correlati (CADc), Nuovo Centro Fisioterapico Sardo, 09131 Cagliari, Italy; [email protected] 4 Department of Pedagogy, Psychology, Philosophy, University of Cagliari, 09123 Cagliari, Italy; [email protected] * Correspondence: [email protected] The authors contributed equally to this work. y Received: 30 September 2020; Accepted: 30 October 2020; Published: 5 November 2020 Abstract: Autism spectrum disorder (ASD) is a neurodevelopmental disorder that affects social interaction and communication, with restricted interests, activity and behaviors. ASD is highly familial, indicating that genetic background strongly contributes to the development of this condition. However, only a fraction of the total number of genes thought to be associated with the condition have been discovered. Moreover, other factors may play an important role in ASD onset. In fact, it has been shown that parental conditions and in utero and perinatal factors may contribute to ASD etiology. More recently, epigenetic changes, including DNA methylation and micro RNA alterations, have been associated with ASD and proposed as potential biomarkers.
    [Show full text]
  • Gender Differences in Core Symptomatology in Autism Spectrum
    View metadata, citation and similar papers at core.ac.uk brought to you by CORE provided by Louisiana State University Louisiana State University LSU Digital Commons LSU Doctoral Dissertations Graduate School 2010 Gender differences in core symptomatology in autism spectrum disorders across the lifespan Tessa Taylor Rivet Louisiana State University and Agricultural and Mechanical College, [email protected] Follow this and additional works at: https://digitalcommons.lsu.edu/gradschool_dissertations Part of the Psychology Commons Recommended Citation Rivet, Tessa Taylor, "Gender differences in core symptomatology in autism spectrum disorders across the lifespan" (2010). LSU Doctoral Dissertations. 2273. https://digitalcommons.lsu.edu/gradschool_dissertations/2273 This Dissertation is brought to you for free and open access by the Graduate School at LSU Digital Commons. It has been accepted for inclusion in LSU Doctoral Dissertations by an authorized graduate school editor of LSU Digital Commons. For more information, please [email protected]. GENDER DIFFERENCES IN CORE SYMPTOMATOLOGY IN AUTISM SPECTRUM DISORDERS ACROSS THE LIFESPAN A Dissertation Submitted to the Graduate Faculty of Louisiana State University and Agricultural and Mechanical College in partial fulfillment of the requirements for the degree of Doctor of Philosophy in The Department of Psychology by Tessa T. Rivet B.A., Southeastern Louisiana University, 2000 M.A., Southeastern Louisiana University, 2001 August, 2010 TABLE OF CONTENTS ABSTRACT .................................................................................................................
    [Show full text]
  • How Is Sex Related to Autism?
    How is Sex Related to Autism? Meng-Chuan Lai Girton College University of Cambridge This dissertation is submitted for the degree of Doctor of Philosophy August 2011 Preface The works in this dissertation were carried out at the Autism Research Centre, Department of Psychiatry, University of Cambridge between October 2008 and August 2011, and was supported by funding from the Ministry of Education, Taiwan. Professor Simon Baron-Cohen acted as my primary supervisor and Professor John Suckling acted as co-supervisor. The dissertation is the result of my own work and includes nothing which is the outcome of work done in collaboration, except that the recruitment and testing of the male participants were carried out between July 2007 and November 2008 by the Medical Research Council Autism Imaging Multicentre Study (MRC AIMS) Consortium project. This dissertation is less than 60,000 words. Chapter 2 and parts of Chapter 1 are published in: Meng-Chuan Lai, Michael V. Lombardo, Greg Pasco, Amber N. V. Ruigrok, Sally J. Wheelwright, Susan A. Sadek, Bhismadev Chakrabarti, MRC AIMS Consortium and Simon Baron-Cohen. (2011). A behavioral comparison of male and female adults with high functioning autism spectrum conditions. PLoS ONE 6(6):e20835. Chapter 6 Study 1 is published in: Meng-Chuan Lai, Michael V. Lombardo, Bhismadev Chakrabarti, Susan A. Sadek, Greg Pasco, Sally J. Wheelwright, Edward T. Bullmore, Simon Baron-Cohen, MRC AIMS Consortium and John Suckling. (2010). A shift to randomness of brain oscillations in people with autism. Biological Psychiatry 68(12):1092-1099. i Chapter 3 is currently in preparation for publication as: Meng-Chuan Lai, Michael V.
    [Show full text]
  • Common DNA Methylation Alterations in Multiple Brain Regions in Autism
    Molecular Psychiatry (2014) 19, 862–871 & 2014 Macmillan Publishers Limited All rights reserved 1359-4184/14 www.nature.com/mp ORIGINAL ARTICLE Common DNA methylation alterations in multiple brain regions in autism C Ladd-Acosta1,2, KD Hansen2,3, E Briem2,4, MD Fallin1,2, WE Kaufmann5,6 and AP Feinberg2,4 Autism spectrum disorders (ASD) are increasingly common neurodevelopmental disorders defined clinically by a triad of features including impairment in social interaction, impairment in communication in social situations and restricted and repetitive patterns of behavior and interests, with considerable phenotypic heterogeneity among individuals. Although heritability estimates for ASD are high, conventional genetic-based efforts to identify genes involved in ASD have yielded only few reproducible candidate genes that account for only a small proportion of ASDs. There is mounting evidence to suggest environmental and epigenetic factors play a stronger role in the etiology of ASD than previously thought. To begin to understand the contribution of epigenetics to ASD, we have examined DNA methylation (DNAm) in a pilot study of postmortem brain tissue from 19 autism cases and 21 unrelated controls, among three brain regions including dorsolateral prefrontal cortex, temporal cortex and cerebellum. We measured over 485 000 CpG loci across a diverse set of functionally relevant genomic regions using the Infinium HumanMethylation450 BeadChip and identified four genome-wide significant differentially methylated regions (DMRs) using a bump hunting approach and a permutation-based multiple testing correction method. We replicated 3/4 DMRs identified in our genome-wide screen in a different set of samples and across different brain regions. The DMRs identified in this study represent suggestive evidence for commonly altered methylation sites in ASD and provide several promising new candidate genes.
    [Show full text]
  • Genetic and Epigenetic Etiology Underlying Autism Spectrum Disorder
    Journal of Clinical Medicine Review Genetic and Epigenetic Etiology Underlying Autism Spectrum Disorder Sang Hoon Yoon y , Joonhyuk Choi y , Won Ji Lee y and Jeong Tae Do * Department of Stem Cell and Regenerative Biotechnology, KU Institute of Technology, Konkuk University, Seoul 05029, Korea; [email protected] (S.H.Y.); [email protected] (J.C.); [email protected] (W.J.L.) * Correspondence: [email protected]; Tel.: +82-2-450-3673 Authors with equal contribution. y Received: 28 February 2020; Accepted: 28 March 2020; Published: 31 March 2020 Abstract: Autism spectrum disorder (ASD) is a pervasive neurodevelopmental disorder characterized by difficulties in social interaction, language development delays, repeated body movements, and markedly deteriorated activities and interests. Environmental factors, such as viral infection, parental age, and zinc deficiency, can be plausible contributors to ASD susceptibility. As ASD is highly heritable, genetic risk factors involved in neurodevelopment, neural communication, and social interaction provide important clues in explaining the etiology of ASD. Accumulated evidence also shows an important role of epigenetic factors, such as DNA methylation, histone modification, and noncoding RNA, in ASD etiology. In this review, we compiled the research published to date and described the genetic and epigenetic epidemiology together with environmental risk factors underlying the etiology of the different phenotypes of ASD. Keywords: autism spectrum disorder; genetic; epigenetic; etiology 1. Introduction Autistic disorder or a broader form of autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by difficulties in social interaction, delayed development of communication and language, repeated body movements, and impaired intelligence development, first described by psychiatrist Leo Kanner in 1943 [1,2].
    [Show full text]
  • Epigenomic Strategies at the Interface of Genetic and Environmental Risk Factors for Autism
    Journal of Human Genetics (2013) 58, 396–401 & 2013 The Japan Society of Human Genetics All rights reserved 1434-5161/13 www.nature.com/jhg REVIEW Epigenomic strategies at the interface of genetic and environmental risk factors for autism Janine M LaSalle Autism spectrum disorders (ASD) have been increasing in prevalence over the last two decades, primarily because of increased awareness and diagnosis. However, autism is clearly a complex human genetic disorder that involves interactions between genes and environment. Epigenetic mechanisms, such as DNA methylation, act at the interface of genetic and environmental risk and protective factors. Advancements in genome-wide sequencing has broadened the view of the human methylome and revealed the organization of the human genome into large-scale methylation domains that footprint over neurologically important genes involved in embryonic development. Future integrative epigenomic analyses of genetic risk factors with environmental exposures and methylome analyses are expected to be important for understanding the complex etiology of ASD. Journal of Human Genetics (2013) 58, 396–401; doi:10.1038/jhg.2013.49; published online 16 May 2013 Keywords: autism spectrum disorders; DNA methylation; epidemiology; epigenetics; genetics; genomics INTRODUCTION However, in more recent twin studies, the estimates of dizygotic Autism spectrum disorder (ASD) is collectively used to refer to the twin concordance have been increasing and monozygotic twin heterogeneous collection of neurodevelopmental disorders
    [Show full text]
  • Genetics and Epigenetics of One-Carbon Metabolism Pathway in Autism Spectrum Disorder: a Sex-Specific Brain Epigenome?
    G C A T T A C G G C A T genes Review Genetics and Epigenetics of One-Carbon Metabolism Pathway in Autism Spectrum Disorder: A Sex-Specific Brain Epigenome? Veronica Tisato 1,2,*,† , Juliana A. Silva 3,† , Giovanna Longo 3, Ines Gallo 3, Ajay V. Singh 4,5 , Daniela Milani 1 and Donato Gemmati 2,3,6,*,† 1 Department of Translational Medicine and LTTA Centre, University of Ferrara, 44121 Ferrara, Italy; [email protected] 2 University Center for Studies on Gender Medicine, University of Ferrara, 44121 Ferrara, Italy 3 Department of Translational Medicine, University of Ferrara, 44121 Ferrara, Italy; [email protected] (J.A.S.); [email protected] (G.L.); [email protected] (I.G.) 4 Physical Intelligence Department, Max Planck Institute for Intelligent Systems, 70569 Stuttgart, Germany; [email protected] 5 Department of Chemical and Product Safety German Federal Institute (BfR), Max-Dohrnstr 8-10, 10589 Berlin, Germany 6 Centre of Hemostasis & Thrombosis, University of Ferrara, 44121 Ferrara, Italy * Correspondence: [email protected] (V.T.); [email protected] (D.G.) † Equally contributed. Abstract: Autism spectrum disorder (ASD) is a complex neurodevelopmental condition affecting behavior and communication, presenting with extremely different clinical phenotypes and features. ASD etiology is composite and multifaceted with several causes and risk factors responsible for different individual disease pathophysiological processes and clinical phenotypes. From a genetic and Citation: Tisato, V.; Silva, J.A.; Longo, epigenetic side, several candidate genes have been reported as potentially linked to ASD, which can G.; Gallo, I.; Singh, A.V.; Milani, D.; be detected in about 10–25% of patients.
    [Show full text]
  • Janine M. Lasalle, Ph.D. Dr. Lasalle Is a Professor of Microbiology And
    Janine M. LaSalle, Ph.D. Janine M. LaSalle, Ph.D., Professor, Department of Medical Microbiology and Immunology and Rowe Program in Human Genetics, School of Medicine Education B.S., Biology, Randolph-Macon College, 1988 Ph.D., Immunology, Harvard University, 1993 Biography Dr. LaSalle is a Professor of Microbiology and Immunology at the University of California, Davis, with memberships in the Genome Center, Rowe Program in Human Genetics, and the MIND Institute. Dr. LaSalle serves on the editorial board of the journal Human Molecular Genetics and Molecular Autism, scientific advisory boards of the International Rett Syndrome Foundation and Dup15q Alliance Foundation. The research focus in Dr. LaSalle’s laboratory is on epigenetics of neurodevelopmental disorders, including autism, Rett syndrome, Prader-Willi syndrome, Angelman syndrome, and 15q duplication syndrome. Dr. LaSalle’s laboratory has developed multiple innovative approaches for epigenetic investigations using genetic mouse models, neuronal cultures, and postmortem human brain. Dr. LaSalle’s laboratory has been successful in the use of genomic and epigenomic technologies to investigate the role of MeCP2 in the pathogenesis of Rett syndrome and autism spectrum disorders. Dr. LaSalle is the chair of the Genetics Graduate Group, and a member of three other graduate groups, including Biochemistry, Molecular, and Celluar Developmental Biology, Neuroscience, and Biophysics Her graduate students and postdoctoral fellows have received several prestigious awards from the National Science Foundation, National Institutes of Health, and Autism Speaks. Dr. LaSalle’s laboratory has been continuously funded by the NIH since 1999 and is currently funded by NICHD, NINDS, NIEHS, and the Prader-Willi Foundation. Publications Nagarajan RP, Patzel KA, Martin M, Yasui DH, Swanberg SE, Hertz-Picciotto I, Hansen RL, Van de Water J, Pessah IN, Jiang R, Robinson WP, LaSalle JM.
    [Show full text]
  • Folic Acid and Autism: a Systematic Review of the Current State of Knowledge
    cells Review Folic Acid and Autism: A Systematic Review of the Current State of Knowledge Bianka Hoxha 1, Malvina Hoxha 2,* , Elisa Domi 2, Jacopo Gervasoni 3, Silvia Persichilli 3, Visar Malaj 4 and Bruno Zappacosta 2 1 Department of Chemical-Pharmaceutical and Biomolecular Technologies, Faculty of Pharmacy, Catholic University “Our Lady of Good Counsel”, Rruga Dritan Hoxha, 1000 Tirana, Albania; [email protected] 2 Department for Chemical-Toxicological and Pharmacological Evaluation of Drugs, Faculty of Pharmacy, Catholic University “Our Lady of Good Counsel”, Rruga Dritan Hoxha, 1000 Tirana, Albania; [email protected] (E.D.); [email protected] (B.Z.) 3 Area Diagnostica di Laboratorio UOC Chimica, Biochimica e Biologia Molecolare Clinica Fondazione Policlinico Universitario A. Gemelli IRCCS, Largo A. Gemelli 8, 00168 Rome, Italy; [email protected] (J.G.); [email protected] (S.P.) 4 Department of Economics, Faculty of Economy, University of Tirana, 1000 Tirana, Albania; [email protected] * Correspondence: [email protected]; Tel.: +355-42-273-290 Abstract: Folic acid has been identified to be integral in rapid tissue growth and cell division during fetal development. Different studies indicate folic acid’s importance in improving childhood behavioral outcomes and underline its role as a modifiable risk factor for autism spectrum disorders. The aim of this systematic review is to both elucidate the potential role of folic acid in autism spectrum disorders and to investigate the mechanisms involved. Studies have pointed out a potential beneficial Citation: Hoxha, B.; Hoxha, M.; Domi, E.; Gervasoni, J.; Persichilli, S.; effect of prenatal folic acid maternal supplementation (600 µg) on the risk of autism spectrum disorder Malaj, V.; Zappacosta, B.
    [Show full text]
  • Epigenetic Regulation in Autism Spectrum Disorder
    Published online: 2021-05-10 AIMS Genetics, 3(4): 292-299. DOI: 10.3934/genet.2016.4.292 Received: 08 September 2016 Accepted: 28 November 2016 Published: 09 December 2016 http://www.aimspress.com/journal/Genetics Review Epigenetic regulation in Autism spectrum disorder Sraboni Chaudhury* Molecular and Behavioral Neuroscience Institute, University of Michigan, Ann Arbor, MI-48109, USA * Correspondence: Email: [email protected]; Tel: +1-734-615-2995. Abstract: Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by an impaired social communication skill and often results in repetitive, stereotyped behavior which is observed in children during the first few years of life. Other characteristic of this disorder includes language disabilities, difficulties in sensory integration, lack of reciprocal interactions and in some cases, cognitive delays. One percentage of the general population is affected by ASD and is four times more common in boys than girls. There are hundreds of genes, which has been identified to be associated with ASD etiology. However it remains difficult to comprehend our understanding in defining the genetic architecture necessary for complete exposition of its pathophysiology. Seeing the complexity of the disease, it is important to adopt a multidisciplinary approach which should not only focus on the “genetics” of autism but also on epigenetics, transcriptomics, immune system disruption and environmental factors that could all impact the pathogenesis of the disease. As environmental factors also play a key role in regulating the trigger of ASD, the role of chromatin remodeling and DNA methylation has started to emerge. Such epigenetic modifications directly link molecular regulatory pathways and environmental factors, which might be able to explain some aspects of complex disorders like ASD.
    [Show full text]