Otizm Spektrum Bozukluğu
Özet
Otizm spektrum bozukluğu (OSB), sosyal etkileşim ve iletişimde yetersizlikler ile sınırlı ve tekrarlayıcı davranışlarla karakterize, yaşam boyu süren nörogelişimsel bir durumdur. Tanı süreci klinik gözlemler ve standardize ölçeklere dayanırken, hastalığın etiyolojisinde genetik yatkınlık ve çevresel faktörler karmaşık bir etkileşim içindedir. Günümüzde OSB tedavisinde erken tanı ve ABA gibi yapılandırılmış yoğun davranışsal müdahaleler temel yaklaşımı oluşturmakta, ilaç tedavisi ise sadece eşlik eden zorlu davranışların yönetiminde tercih edilmektedir.
Autism spectrum disorder (ASD) is a lifelong neurodevelopmental condition characterized by deficits in social interaction and communication, alongside restricted and repetitive behaviors. While the diagnosis process relies on clinical observation and standardized scales, the etiology of the disorder involves a complex interaction between genetic predisposition and environmental factors. Current management primarily focuses on early diagnosis and intensive behavioral interventions like Applied Behavior Analysis (ABA), with pharmacological treatments reserved for managing associated challenging behaviors.
Referanslar
Association AP. Diagnostic and statistical manual of mental disorders (DSM-5®). American Psychiatric Pub; 2013.
DSM-IV-TR. A. Diagnostic and statistical manual of mental disorders. American Psychiatric Association Washington, DC; 2000.
Wing L, Gould J, Gillberg C. Autism spectrum disorders in the DSM-V: better or worse than the DSM-IV? Research in developmental disabilities. 2011;32(2):768-773.
Bleuler E. Dementia praecox oder Gruppe der Schizophrenien. Vol 12: Deuticke; 1911.
Kanner L. Autistic disturbances of affective contact. Nervous child. 1943;2(3):217-250.
Asperger H. Die “Autistischen Psychopathen”. im Kindesalter, Archives fur Psychiatrie und Nervenkrankheitem 117, 67–136. Translated in U. Frith. Autism and Asperger’s syndrome. 1944:39-92.
Organization WH. The ICD-10 classification of mental and behavioural disorders: clinical descriptions and diagnostic guidelines. World Health Organization; 1992.
Gillberg C, Wing L. Autism: not an extremely rare disorder. Acta Psychiatrica Scandinavica. 1999;99(6):399-406.
Baio J, Wiggins L, Christensen DL, et al. Prevalence of autism spectrum disorder among children aged 8 years—autism and developmental disabilities monitoring network, 11 sites, United States, 2014. MMWR Surveillance Summaries. 2018;67(6):1.
Blumberg SJ, Bramlett MD, Kogan MD, Schieve LA, Jones JR, Lu MC. Changes in prevalence of parent-reported autism spectrum disorder in school-aged US children: 2007 to 2011-2012. US Department of Health and Human Services, Centers for Disease Control and …; 2013.
Schieve LA, Rice C, Devine O, et al. Have secular changes in perinatal risk factors contributed to the recent autism prevalence increase? Development and application of a mathematical assessment model. Annals of epidemiology. 2011;21(12):930-945.
Sandin S, Lichtenstein P, Kuja-Halkola R, Larsson H, Hultman CM, Reichenberg A. The familial risk of autism. Jama. 2014;311(17):1770-1777.
Grønborg TK, Schendel DE, Parner ET. Recurrence of autism spectrum disorders in full-and half-siblings and trends over time: a population-based cohort study. JAMA pediatrics. 2013;167(10):947-953.
Colvert E, Tick B, McEwen F, et al. Heritability of autism spectrum disorder in a UK population-based twin sample. JAMA psychiatry. 2015;72(5):415-423.
Talkowski ME, Minikel EV, Gusella JF. Autism spectrum disorder genetics: diverse genes with diverse clinical outcomes. Harvard review of psychiatry. 2014;22(2):65-75.
Hallmayer J, Cleveland S, Torres A, et al. Genetic heritability and shared environmental factors among twin pairs with autism. Archives of general psychiatry. 2011;68(11):1095-1102.
Bourgeron T. From the genetic architecture to synaptic plasticity in autism spectrum disorder. Nature Reviews Neuroscience. 2015;16(9):551-563.
de la Torre-Ubieta L, Won H, Stein JL, Geschwind DH. Advancing the understanding of autism disease mechanisms through genetics. Nature medicine. 2016;22(4):345-361.
Gaugler T, Klei L, Sanders SJ, et al. Most genetic risk for autism resides with common variation. Nature genetics. 2014;46(8):881-885.
Mazina V, Gerdts J, Trinh S, et al. Epigenetics of autism-related impairment: copy number variation and maternal infection. Journal of Developmental & Behavioral Pediatrics. 2015;36(2):61-67.
Volk HE, Kerin T, Lurmann F, Hertz-Picciotto I, McConnell R, Campbell DB. Brief Report: Autism Spectrum Disorder: Interaction of Air Pollution with the MET Receptor Tyrosine Kinase Gene. Epidemiology. 2014:44-47.
Joubert BR, Felix JF, Yousefi P, et al. DNA methylation in newborns and maternal smoking in pregnancy: genome-wide consortium meta-analysis. The American Journal of Human Genetics. 2016;98(4):680-696.
Mandy W, Lai MC. Annual Research Review: The role of the environment in the developmental psychopathology of autism spectrum condition. Journal of Child Psychology and Psychiatry. 2016;57(3):271-292.
Zerbo O, Yoshida C, Gunderson EP, Dorward K, Croen LA. Interpregnancy interval and risk of autism spectrum disorders. Pediatrics. 2015;136(4):651-657.
Lyall K, Ashwood P, Van de Water J, Hertz-Picciotto I. Maternal immune-mediated conditions, autism spectrum disorders, and developmental delay. Journal of autism and developmental disorders. 2014;44(7):1546-1555.
Gentile S. Prenatal antidepressant exposure and the risk of autism spectrum disorders in children. Are we looking at the fall of Gods? Journal of affective disorders. 2015;182:132-137.
Bromley RL, Mawer GE, Briggs M, et al. The prevalence of neurodevelopmental disorders in children prenatally exposed to antiepileptic drugs. Journal of Neurology, Neurosurgery & Psychiatry. 2013;84(6):637-643.
Christensen J, Grønborg TK, Sørensen MJ, et al. Prenatal valproate exposure and risk of autism spectrum disorders and childhood autism. Jama. 2013;309(16):1696-1703.
Veiby G, Daltveit AK, Schjølberg S, et al. Exposure to antiepileptic drugs in utero and child development: A prospective population‐based study. Epilepsia. 2013;54(8):1462-1472.
Croen LA, Connors SL, Matevia M, Qian Y, Newschaffer C, Zimmerman AW. Prenatal exposure to β2-adrenergic receptor agonists and risk of autism spectrum disorders. Journal of neurodevelopmental disorders. 2011;3(4):307-315.
Gidaya NB, Lee BK, Burstyn I, Michael Y, Newschaffer CJ, Mortensen EL. In utero exposure to β-2-adrenergic receptor agonist drugs and risk for autism spectrum disorders. Pediatrics. 2016;137(2).
Hazlett HC, Gu H, Munsell BC, et al. Early brain development in infants at high risk for autism spectrum disorder. Nature. 2017;542(7641):348-351.
Ecker C, Bookheimer SY, Murphy DG. Neuroimaging in autism spectrum disorder: brain structure and function across the lifespan. The Lancet Neurology. 2015;14(11):1121-1134.
Piven J, Arndt S, Bailey J, Havercamp S, Andreasen NC, Palmer P. An MRI study of brain size in autism. The American journal of psychiatry. 1995.
Piven J, Arndt S, Bailey J, Andreasen N. Regional brain enlargement in autism: a magnetic resonance imaging study. Journal of the American Academy of Child & Adolescent Psychiatry. 1996;35(4):530-536.
Courchesne E, Karns C, Davis H, et al. Unusual brain growth patterns in early life in patients with autistic disorder: an MRI study. Neurology. 2001;57(2):245-254.
Hazlett HC, Poe M, Gerig G, et al. Magnetic resonance imaging and head circumference study of brain size in autism: birth through age 2 years. Archives of general psychiatry. 2005;62(12):1366-1376.
Xiao Z, Qiu T, Ke X, et al. Autism spectrum disorder as early neurodevelopmental disorder: Evidence from the brain imaging abnormalities in 2–3 years old toddlers. Journal of autism and developmental disorders. 2014;44(7):1633-1640.
Zwaigenbaum L, Young GS, Stone WL, et al. Early head growth in infants at risk of autism: a baby siblings research consortium study. Journal of the American Academy of Child & Adolescent Psychiatry. 2014;53(10):1053-1062.
Casanova MF, van Kooten IA, Switala AE, et al. Minicolumnar abnormalities in autism. Acta neuropathologica. 2006;112(3):287.
Ecker C, Suckling J, Deoni SC, et al. Brain anatomy and its relationship to behavior in adults with autism spectrum disorder: a multicenter magnetic resonance imaging study. Archives of general psychiatry. 2012;69(2):195-209.
Geschwind DH, Levitt P. Autism spectrum disorders: developmental disconnection syndromes. Current opinion in neurobiology. 2007;17(1):103-111.
Lord C, Rutter M, Le Couteur A. Autism Diagnostic Interview-Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. Journal of autism and developmental disorders. 1994;24(5):659-685.
Wing L, Leekam SR, Libby SJ, Gould J, Larcombe M. The diagnostic interview for social and communication disorders: Background, inter‐rater reliability and clinical use. Journal of child psychology and psychiatry. 2002;43(3):307-325.
Skuse D, Warrington R, Bishop D, et al. The developmental, dimensional and diagnostic interview (3di): a novel computerized assessment for autism spectrum disorders. Journal of the American Academy of Child & Adolescent Psychiatry. 2004;43(5):548-558.
Allen C, Silove N, Williams K, Hutchins P. Validity of the social communication questionnaire in assessing risk of autism in preschool children with developmental problems. Journal of autism and developmental disorders. 2007;37(7):1272-1278.
Krug DA, Arick J, Almond P. Behavior checklist for identifying severely handicapped individuals with high levels of autistic behavior. Journal of Child Psychology and Psychiatry. 1980;21(3):221-229.
Lord C, Rutter M, Goode S, et al. Austism diagnostic observation schedule: A standardized observation of communicative and social behavior. Journal of autism and developmental disorders. 1989;19(2):185-212.
Schopler E, Reichler RJ, DeVellis RF, Daly K. Toward objective classification of childhood autism: Childhood Autism Rating Scale (CARS). Journal of autism and developmental disorders. 1980;10(1):91-103.
Hergüner S, Özbaran B. Çocuk ve Ergen Psikiyatrisinde Ölçütler ve Ölçekler. Türkiye Çocuk ve Genç Psikiyatrisi Derneği Yayınları. 2010;4.
Rellini E, Tortolani D, Trillo S, Carbone S, Montecchi F. Childhood Autism Rating Scale (CARS) and Autism Behavior Checklist (ABC) correspondence and conflicts with DSM-IV criteria in diagnosis of autism. Journal of autism and developmental disorders. 2004;34(6):703-708.
Zwaigenbaum L, Bauman ML, Fein D, et al. Early screening of autism spectrum disorder: recommendations for practice and research. Pediatrics. 2015;136(Supplement 1):S41-S59.
Robins DL, Casagrande K, Barton M, Chen C-MA, Dumont-Mathieu T, Fein D. Validation of the modified checklist for autism in toddlers, revised with follow-up (M-CHAT-R/F). Pediatrics. 2014;133(1):37-45.
Blenner S, Reddy A, Augustyn M. Diagnosis and management of autism in childhood. BMJ. 2011;343.
Johnson CP. Recognition of autism before age 2 years. Pediatrics in Review. 2008;29(3):86.
Baird G, Douglas HR, Murphy MS. Recognising and diagnosing autism in children and young people: summary of NICE guidance. BMJ. 2011;343.
Robertson CE, Baron-Cohen S. Sensory perception in autism. Nature Reviews Neuroscience. 2017;18(11):671.
Sadiq FA, Slator L, Skuse D, Law J, Gillberg C, Minnis H. Social use of language in children with reactive attachment disorder and autism spectrum disorders. European child & adolescent psychiatry. 2012;21(5):267-276.
Rutter M, Andersen‐Wood L, Beckett C, et al. Quasi‐autistic patterns following severe early global privation. Journal of Child Psychology and Psychiatry. 1999;40(4):537-549.
Skuse DH. DSM-5's conceptualization of autistic disorders. Journal of the American Academy of Child & Adolescent Psychiatry. 2012;4(51):344-346.
Bishop DV, Norbury CF. Exploring the borderlands of autistic disorder and specific language impairment: a study using standardised diagnostic instruments. Journal of child Psychology and Psychiatry. 2002;43(7):917-929.
Baird G, Norbury CF. Social (pragmatic) communication disorders and autism spectrum disorder. Archives of Disease in Childhood. 2016;101(8):745-751.
İşeri E, Taş Torun Y. Bebeklik Döneminde Önemli Bir Psikopatoloji: Otizm. 2018.
Thurm A, Farmer C, Salzman E, Lord C, Bishop S. State of the field: differentiating intellectual disability from autism spectrum disorder. Frontiers in psychiatry. 2019;10:526.
Landau WM, Kleffner FR. Syndrome of acquired aphasia with convulsive disorder in children. Neurology. 1957.
Tuchman RF, Rapin I. Regression in pervasive developmental disorders: seizures and epileptiform electroencephalogram correlates. Pediatrics. 1997;99(4):560-566.
Bishop DV. Age of onset and outcome in ‘acquired aphasia with convulsive disorder’(Landau‐Kleffner syndrome). Developmental Medicine & Child Neurology. 1985;27(6):705-712.
Minter M, Hobson RP, Bishop M. Congenital visual impairment and ‘theory of mind’. British Journal of Developmental Psychology. 1998;16(2):183-196.
Hobson RP, Lee A, Brown R. Autism and congenital blindness. Journal of autism and developmental disorders. 1999;29(1):45-56.
Fraiberg S. Congenital sensory and motor deficits and ego formation. Annual of Psychoanalysis. 1977;5:169-194.
Absoud M, Parr JR, Salt A, Dale N. Developing a schedule to identify social communication difficulties and autism spectrum disorder in young children with visual impairment. Developmental Medicine & Child Neurology. 2011;53(3):285-288.
Wrzesińska M, Kapias J, Nowakowska-Domagała K, Kocur J. Visual impairment and traits of autism in children. 2017.
Do B, Lynch P, Macris EM, et al. Systematic review and meta‐analysis of the association of Autism Spectrum Disorder in visually or hearing impaired children. Ophthalmic and Physiological Optics. 2017;37(2):212-224.
Zafeiriou DI, Ververi A, Vargiami E. Childhood autism and associated comorbidities. Brain and Development. 2007;29(5):257-272.
Bauman ML. Medical comorbidities in autism: challenges to diagnosis and treatment. Neurotherapeutics. 2010;7(3):320-327.
Amiet C, Gourfinkel-An I, Bouzamondo A, et al. Epilepsy in autism is associated with intellectual disability and gender: evidence from a meta-analysis. Biological psychiatry. 2008;64(7):577-582.
Viscidi EW, Triche EW, Pescosolido MF, et al. Clinical characteristics of children with autism spectrum disorder and co-occurring epilepsy. PloS one. 2013;8(7):e67797.
Baird G, Robinson RO, Boyd S, Charman T. Sleep electroencephalograms in young children with autism with and without regression. Developmental Medicine & Child Neurology. 2006;48(7):604-608.
Chez MG, Chang M, Krasne V, Coughlan C, Kominsky M, Schwartz A. Frequency of epileptiform EEG abnormalities in a sequential screening of autistic patients with no known clinical epilepsy from 1996 to 2005. Epilepsy & Behavior. 2006;8(1):267-271.
Spence SJ, Schneider MT. The role of epilepsy and epileptiform EEGs in autism spectrum disorders. Pediatric research. 2009;65(6):599-606.
Eeg-Olofsson O, Petersén I, Selldén U. The Development of the Electroencephalogram in Normal Children from the Age of 1 Through 15 Years–Paroxysmal activity. Neuropädiatrie. 1971;2(04):375-404.
Hughes JR, Melyn M. EEG and seizures in autistic children and adolescents: further findings with therapeutic implications. Clinical EEG and Neuroscience. 2005;36(1):15-20.
Hughes R, Poon W-Y, Harvey AS. Limited role for routine EEG in the assessment of staring in children with autism spectrum disorder. Archives of Disease in Childhood. 2015;100(1):30-33.
Strasser L, Downes M, Kung J, Cross JH, De Haan M. Prevalence and risk factors for autism spectrum disorder in epilepsy: a systematic review and meta‐analysis. Developmental Medicine & Child Neurology. 2018;60(1):19-29.
Van Steensel FJ, Bögels SM, de Bruin EI. Psychiatric comorbidity in children with autism spectrum disorders: A comparison with children with ADHD. Journal of child and family studies. 2013;22(3):368-376.
Ming X, Brimacombe M, Wagner GC. Prevalence of motor impairment in autism spectrum disorders. Brain and Development. 2007;29(9):565-570.
Garstang J, Wallis M. Randomized controlled trial of melatonin for children with autistic spectrum disorders and sleep problems. Child: care, health and development. 2006;32(5):585-589.
Rossignol DA, Frye RE. Melatonin in autism spectrum disorders: a systematic review and meta‐analysis. Developmental Medicine & Child Neurology. 2011;53(9):783-792.
Hsiao EY. Gastrointestinal issues in autism spectrum disorder. Harvard review of psychiatry. 2014;22(2):104-111.
Fernell E, Eriksson MA, Gillberg C. Early diagnosis of autism and impact on prognosis: a narrative review. Clinical epidemiology. 2013;5:33.
Farley MA, McMahon WM, Fombonne E, et al. Twenty‐year outcome for individuals with autism and average or near‐average cognitive abilities. Autism Research. 2009;2(2):109-118.
Zwaigenbaum L, Bauman ML, Choueiri R, et al. Early identification and interventions for autism spectrum disorder: executive summary. Pediatrics. 2015;136(Supplement 1):S1-S9.
Mukherjee SB. Autism spectrum disorders—diagnosis and management. The Indian Journal of Pediatrics. 2017;84(4):307-314.
Schreibman L, Ingersoll B. Behavioral Interventions to Promote Learning in Individuals with Autism. 2005.
Kent JM, Kushner S, Ning X, et al. Risperidone dosing in children and adolescents with autistic disorder: a double-blind, placebo-controlled study. Journal of autism and developmental disorders. 2013;43(8):1773-1783.
Owen R, Sikich L, Marcus RN, et al. Aripiprazole in the treatment of irritability in children and adolescents with autistic disorder. Pediatrics. 2009;124(6):1533-1540.
Lofthouse N, Hendren R, Hurt E, Arnold LE, Butter E. A review of complementary and alternative treatments for autism spectrum disorders. Autism research and treatment. 2012;2012.
Gabriels RL, Pan Z, Dechant B, Agnew JA, Brim N, Mesibov G. Randomized controlled trial of therapeutic horseback riding in children and adolescents with autism spectrum disorder. Journal of the American Academy of Child & Adolescent Psychiatry. 2015;54(7):541-549.
Nye C, Brice A. Combined vitamin B6‐magnesium treatment in autism spectrum disorder. Cochrane Database of Systematic Reviews. 2005(4).