Çocuk ve Ergenlerde Otizm Spektrum Bozuklukları
Synopsis
Autism spectrum disorder (ASD) is a chronic neurodevelopmental disorder characterized by deficits in social-community communication and interaction, as well as restricted and repetitive behaviors. With an estimated prevalence of 1 in 54, the disorder is observed 4 times more frequently in boys than in girls. Its etiology is highly complex, with underlying causes identified in only 15-25% of cases; while twin and family studies demonstrate high genetic heritability, copy number variations (CNVs), and specific gene abnormalities, factors such as medication use during pregnancy, viral infections, advanced paternal age, and environmental influences can negatively affect fetal brain development. In the clinical presentation accompanied by neurophysiological, neuroanatomical, and neurochemical alterations, speech delay represents the most common reason for outpatient clinic visits. Symptoms varying by age group are accompanied by psychiatric and medical comorbidities such as ADHD, intellectual disability, anxiety, depression, and epilepsy in 70-80% of cases. Although a poor prognosis is observed in approximately 60% of cases, early diagnosis, early intervention, high intelligence quotient, and acquiring speech skills by age five or six serve as favorable prognostic factors. In treatment management, educational approaches such as Applied Behavior Analysis (ABA), speech-language therapy, and occupational therapy play a fundamental role, while FDA-approved atypical antipsychotics such as risperidone and aripiprazole are utilized for irritability and aggression. Conversely, methods such as elimination diets, sensory integration, heavy metal chelation, hyperbaric oxygen therapy, and neurofeedback have not been demonstrated to be effective for the core symptoms of ASD.
References
1.Association AP. Diagnostic and statistical manual of mental disorders (DSM-5®): American Psychiatric Pub; 2013.
2.Persico AM, Bourgeron T. Searching for ways out of the autism maze: genetic, epigenetic and environmental clues. Trends in neurosciences. 2006;29(7):349-358.
Bölte, S.B.; Girdler, S.; Marschik, P.B. The contribution of environmental exposure to the etiology of autism spectrum disorder. Cell. Mol. Life Sci. 2019, 76, 1275–1297.
Alibek, K.; Farmer, S.; Tskhay, A.; Moldakozhayev, A.; Alibek, K.; Isakov, T. The Role of Infection, Inflammation and Genetic Alterations in ASD Etiopathogenesis: A Review. J. Neurol. Psychiatr Disord. 2019, 2, 105.
Özerk K. , Cardinal D. ;Prevalence of autism/ASD among preschool and school-age children in Norway. Contemporary School Psychology. 2020, 1-10
Yosunkaya E. Otizm etyolojisinde genetik ve güncel perspektif. İstanbul Tıp Fakültesi Dergisi. 2013;76(4):84-88.
Bourgeron T. Current knowledge on the genetics of autism and propositions for future research. Comptes rendus biologies. 2016;339(7):300-307.
Polleux F, Lauder JM. Toward a developmental neurobiology of autism. Developmental Disabilities Research Reviews. 2004;10(4):303-317.
Dietert RR, Dietert JM, DeWitt JC. Environmental risk factors for autism. Emerging health threats journal. 2011;4(1):7111-7121.
Kim HL, Donnelly JH, Tournay AE, Book TM, Filipek P. Absence of seizures despite high prevalence of epileptiform EEG abnormalities in children with autism monitored in a tertiary care center. Epilepsia. 2006;47(2):394-398.
Tuchman R, What is the Relationship between Autism Spectrum Disorders and Epilepsy? In Seminars in pediatric neurology; 2017:24(4):292-300.
Inui T, Kumagaya S, Myowa-Yamakoshi M. Neurodevelopmental Hypothesis about the Etiology of Autism Spectrum Disorders. Frontiers in human neuroscience. 2017;11:354-372.
McDougle CJ, Erickson CA, Stigler KA, Posey DJ. Neurochemistry in the pathophysiology of autism. The Journal of clinical psychiatry. 2005;66:9-18.
Grzadzinski R, Huerta M, Lord C. DSM-5 and autism spectrum disorders (ASDs): an opportunity for identifying ASD subtypes. Mol Autism. 2013;4(1):1.
AS Weitlauf, KO Gotham, AC Vehorn, ZE Warren; Brief report: DSM-5 “levels of support:” a comment on discrepant conceptualizations of severity in ASD. J Autism Dev Disord, 44. 2014; 471-476
Kaat AJ, Gadow KD, Lecavalier L. Psychiatric symptom impairment in children with autism spectrum disorders. J Abnorm Child Psychol 2013; 41(6): 959– 969.
17.Korkmaz, B. (2010). Otizm: Klinik ve nörobiyolojik özellikleri, erken tanı, tedavi ve bazı güncel gelişmeler. Türk Pediatri Arşivi Dergisi, 45:80, 37-44.
Çetin F, Pehlivantürk B, Ünal F, Uslu R, İșeri E, Türkbay T. Çocuk ve ergen psikiyatrisi temel kitabı; 2008.
Buck TR, Viskochil J, Farley M, Coon H, McMahon WM, Morgan J, et al. Psychiatric comorbidity and medication use in adults with autism spectrum disorder. Journal of autism and developmental disorders. 2014;44(12):3063-3071.
Houghton R, Ong RC, Bolognani F. Psychiatric comorbidities and use of psychotropic medications in people with autism spectrum disorder in the United States. Autism Research. 2017;10(12):2037-2047.
Mukaddes NM, Tutkunkardas MD, Sari O, Aydin A, Kozanoglu P. Characteristics of children who lost the diagnosis of autism: a sample from Istanbul, Turkey. Autism research and treatment. 2014:472-482.
Ozonoff S, Pennington BF, Rogers SJ. Executive function deficits in high‐functioning autistic individuals: relationship to theory of mind. Journal of child Psychology and Psychiatry. 1991;32(7):1081-1105.
Mukaddes N. Otizm spektrum bozuklukları tanı ve takip. Nobel Tıp Kitabevleri İstanbul. 2013
