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Referanslar

Blacher J, Christensen L. Sowing the seeds of the autism field: Leo Kanner (1943). Intellect Dev Disabil. 2011;49(3):172-191. doi:10.1352/1934-9556-49.3.172.

Lin X, Wang G, Shen S, Zhan J. Advances in the Diagnosis and Treatment of Autism Spectrum Disorders in Children. Altern Ther Health Med. 2024;30(3):170-175.

American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders; American Psychiatric Association: Washington, DC, USA, 2013.

Hirota T, King BH. Autism Spectrum Disorder: A Review. JAMA. 2023;329(2):157-168. doi:10.1001/jama.2022.23661.

Salari N, Rasoulpoor S, Rasoulpoor S, Shohaimi S, Jafarpour S, Abdoli N, et al. The global prevalence of autism spectrum disorder: a comprehensive systematic review and meta-analysis. Ital J Pediatr. 2022 Jul 8;48(1):112. doi: 10.1186/s13052-022-01310-w.

Talantseva OI, Romanova RS, Shurdova EM, Dolgorukova TA, Sologub PS, Titova OS, et al. The global prevalence of autism spectrum disorder: A three-level meta-analysis. Front Psychiatry. 2023 Feb 9;14:1071181. doi: 10.3389/fpsyt.2023.1071181.

Issac A, Halemani K, Shetty AP, Thimmappa L, Vr V, Kiranmayi K, et al. The global prevalence of autism spectrum disorder in children: a systematic review and meta-analysis. Osong Public Health Res Perspect. 2025 Feb 10. doi: 10.24171/j.phrp.2024.0286.

Sacco R, Camilleri N, Eberhardt J, Umla-Runge K, Newbury-Birch D. The Prevalence of Autism Spectrum Disorder in Europe (In Carotenuto M, editor), Autism Spectrum Disorders-Recent Advances and New Perspectives InTech-Open Access Publisher. 2022 doi: 10.5772/intechopen.108123.

Qin L, Wang H, Ning W, Cui M, Wang Q. New advances in the diagnosis and treatment of autism spectrum disorders. Eur J Med Res. 2024;29(1):322. Published 2024 Jun 10. doi:10.1186/s40001-024-01916-2.

Lin X, Wang G, Shen S, Zhan J. Advances in the Diagnosis and Treatment of Autism Spectrum Disorders in Children. Altern Ther Health Med. 2024 Mar;30(3):170-175.

Ornoy A, Weinstein-Fudim L, Ergaz Z. Genetic Syndromes, Maternal Diseases and Antenatal Factors Associated with Autism Spectrum Disorders (ASD). Front Neurosci. 2016 Jul 6;10:316. doi:10.3389/fnins.2016.00316.

Wisniowiecka-Kowalnik B, Nowakowska BA. Genetics and epigenetics of autism spectrum disorder-current evidence in the field. J Appl Genet. 2019 Feb;60(1):37-47. doi: 10.1007/s13353-018-00480-w.

Bourgeron T. Current knowledge on the genetics of autism and propositions for future research. C R Biol. 2016 Jul-Aug;339(7-8):300-7. doi: 10.1016/j.crvi.2016.05.004.

Baumer N, Spence SJ. Evaluation and Management of the Child With Autism Spectrum Disorder. Continuum (Minneap Minn). 2018 Feb;24(1, Child Neurology):248-275. doi: 10.1212/CON.0000000000000578.

Beers AN, McBoyle M, Kakande E, Dar Santos RC, Kozak FK. Autism and peripheral hearing loss: a systematic review. Int J Pediatr Otorhinolaryngol. 2014 Jan;78(1):96-101. doi: 10.1016/j.ijporl.2013.10.063.

Do B, Lynch P, Macris EM, Smyth B, Stavrinakis S, Quinn S, et al. Systematic review and meta-analysis of the association of Autism Spectrum Disorder in visually or hearing impaired children. Ophthalmic Physiol Opt. 2017 Mar;37(2):212-224. doi: 10.1111/opo.12350.

Danesh AA, Howery S, Aazh H, Kaf W, Eshraghi AA. Hyperacusis in Autism Spectrum Disorders. Audiol Res. 2021 Oct 14;11(4):547-556. doi: 10.3390/audiolres11040049.

Stevenson M, Tedone E. Assessment of Autism Spectrum Disorders in Children with Visual Impairment and Blindness: A Scoping Review. J Autism Dev Disord. 2024 Mar 28. doi: 10.1007/s10803-024-06300-x.

Pili R, Zolo B, Farris P, Penna V, Valinotti S, Carrogu GP, et al. Autism and Visual impairment: A First Approach to a Complex Relationship. Clin Pract Epidemiol Ment Health. 2021 Dec 22;17:212-216. doi: 10.2174/1745017902117010212.

Mann A, Aghababaie A, Kalitsi J, Martins D, Paloyelis Y, Kapoor RR. Neurodevelopmental impairments in children with septo-optic dysplasia spectrum conditions: a systematic review. Mol Autism. 2023 Jul 25;14(1):26. doi: 10.1186/s13229-023-00559-0.

Molinaro A, Micheletti S, Rossi A, Gitti F, Galli J, Merabet LB, et al. Autistic-Like Features in Visually Impaired Children: A Review of Literature and Directions for Future Research. Brain Sci. 2020 Aug 1;10(8):507. doi: 10.3390/brainsci10080507.

Hyman SL, Levy SE, Myers SM; Council on Children with Disabilities, Section on Developmental and Behavioral Pediatrics. Identification, Evaluation, and Management of Children With Autism Spectrum Disorder. Pediatrics. 2020 Jan;145(1):e20193447. doi: 10.1542/peds.2019-3447.

Almohmadi NH. Brain-gut-brain axis, nutrition, and autism spectrum disorders: a review. Transl Pediatr. 2024 Sep 30;13(9):1652-1670. doi: 10.21037/tp-24-182.

Rossignol DA, Frye RE. The Effectiveness of Cobalamin (B12) Treatment for Autism Spectrum Disorder: A Systematic Review and Meta-Analysis. J Pers Med. 2021 Aug 11;11(8):784. doi: 10.3390/jpm11080784.

Vasconcelos C, Perry IS, Gottfried C, Riesgo R, Castro K. Folic acid and autism: updated evidences. Nutr Neurosci. 2025 Mar;28(3):273-307. doi: 10.1080/1028415X.2024.2367855.

Pascual-Morena C, Cavero-Redondo I, Reina-Gutiérrez S, Saz-Lara A, López-Gil JF, Martínez-Vizcaíno V. Prevalence of Neuropsychiatric Disorders in Duchenne and Becker Muscular Dystrophies: A Systematic Review and Meta-analysis. Arch Phys Med Rehabil. 2022;103(12):2444-2453. doi:10.1016/j.apmr.2022.05.015.

Lewis S, Woroch A, Hatch MK, Lozano R. Autosomal Recessive Limb-Girdle Muscular Dystrophy-3: A Case Report of a Patient with Autism Spectrum Disorder. Genes (Basel). 2023;14(8):1587. doi:10.3390/genes14081587.

Kutluk G, Kadem N, Bektas O, Eroglu HN. A Rare Cause of Autism Spectrum Disorder: Megaconial Muscular Dystrophy. Ann Indian Acad Neurol. 2020;23(5):694-696. doi:10.4103/aian.AIAN_98_19.

Panda PK, Shikha D, Sharawat IK. Association of Autism Spectrum Disorder with Pre-symptomatic Duchenne Muscular Dystrophy: Isolated Elevation of Transaminases as a Diagnostic Clue. Ann Indian Acad Neurol. 2021;24(4):603-604. doi:10.4103/aian.AIAN_900_20.

El-Ansary A, Chirumbolo S, Bhat RS, Dadar M, Ibrahim EM, Bjørklund G. The Role of Lipidomics in Autism Spectrum Disorder. Mol Diagn Ther. 2020 Feb;24(1):31-48. doi: 10.1007/s40291-019-00430-0.

Qasem H, Al-Ayadhi L, Bjørklund G, Chirumbolo S, El-Ansary A. Impaired lipid metabolism markers to assess the risk of neuroinflammation in autism spectrum disorder. Metab Brain Dis. 2018 Aug;33(4):1141-1153. doi: 10.1007/s11011-018-0206-6.

Fields VL, Soke GN, Reynolds A, Tian LH, Wiggins L, Maenner M, et al. Pica, Autism, and Other Disabilities. Pediatrics. 2021 Feb;147(2):e20200462. doi: 10.1542/peds.2020-0462.

Schaefer GB, Mendelsohn NJ; Professional Practice and Guidelines Committee. Clinical genetics evaluation in identifying the etiology of autism spectrum disorders. Genet Med. 2008 Apr;10(4):301-5. doi: 10.1097/GIM.0b013e31816b5cc9. Erratum in: Genet Med. 2008 Jun;10(6):464.

de la Torre-Ubieta L, Won H, Stein JL, Geschwind DH. Advancing the understanding of autism disease mechanisms through genetics. Nat Med. 2016 Apr;22(4):345-61. doi: 10.1038/nm.4071.

Martucci M, Novelli M, Scarselli V, Di Palma F, Fiorelli F, Bernardini L, et al. Array-comparative genomic hybridization analysis in a cohort of 130 children with Autism Spectrum Disorders: A single Center Italian Study. Clin Ter. 2023 Nov-Dec;174(6):509-517. doi: 10.7417/CT.2023.5018.

Granata P, Zito A, Cocciadiferro D, Novelli A, Pessina C, Mazza T, et al. Unveiling genetic insights: Array-CGH and WES discoveries in a cohort of 122 children with essential autism spectrum disorder. BMC Genomics. 2024 Dec 10;25(1):1186. doi: 10.1186/s12864-024-11077-5.

Gogate A, Kaur K, Khalil R, Bashtawi M, Morris MA, Goodspeed K, et al. The genetic landscape of autism spectrum disorder in an ancestrally diverse cohort. NPJ Genom Med. 2024 Dec 4;9(1):62. doi: 10.1038/s41525-024-00444-6. Erratum in: NPJ Genom Med. 2024 Dec 26;9(1):72. doi: 10.1038/s41525-024-00458-0.

Olejniczak P. Neurophysiologic basis of EEG. J Clin Neurophysiol. 2006 Jun;23(3):186-9. doi: 10.1097/01.wnp.0000220079.61973.6c.

Lukmanji S, Manji SA, Kadhim S, Sauro KM, Wirrell EC, Kwon CS, et al. The co-occurrence of epilepsy and autism: A systematic review. Epilepsy Behav. 2019 Sep;98(Pt A):238-248. doi: 10.1016/j.yebeh.2019.07.037.

Besag FMC, Vasey MJ. Seizures and Epilepsy in Autism Spectrum Disorder. Psychiatr Clin North Am. 2021 Mar;44(1):51-68. doi: 10.1016/j.psc.2020.11.005.

Milovanovic M, Radivojevic V, Radosavljev-Kircanski J, Grujicic R, Toskovic O, Aleksić-Hil O, et al. Epilepsy and interictal epileptiform activity in patients with autism spectrum disorders. Epilepsy Behav. 2019 Mar;92:45-52. doi: 10.1016/j.yebeh.2018.12.011.

Milovanovic M, Grujicic R. Electroencephalography in Assessment of Autism Spectrum Disorders: A Review. Front Psychiatry. 2021 Sep 29;12:686021. doi: 10.3389/fpsyt.2021.686021.

Kang JQ, Barnes G. A common susceptibility factor of both autism and epilepsy: functional deficiency of GABA A receptors. J Autism Dev Disord. 2013 Jan;43(1):68-79. doi: 10.1007/s10803-012-1543-7.

Johnson AJ, Shankland E, Richards T, Corrigan N, Shusterman D, Edden R, et al. Relationships between GABA, glutamate, and GABA/glutamate and social and olfactory processing in children with autism spectrum disorder. Psychiatry Res Neuroimaging. 2023 Dec;336:111745. doi: 10.1016/j.pscychresns.2023.111745.

Specchio N, Di Micco V, Aronica E, Auvin S, Balestrini S, Brunklaus A, et al. The epilepsy-autism phenotype associated with developmental and epileptic encephalopathies: New mechanism-based therapeutic options. Epilepsia. 2025 Feb 22. doi: 10.1111/epi.18209.

Jakimiec M, Paprocka J, Smigiel R. CDKL5 Deficiency Disorder-A Complex Epileptic Encephalopathy. Brain Sci. 2020 Feb 17;10(2):107. doi: 10.3390/brainsci10020107.

Ramani R, Fatima B, Hussain A, Shahid U, Kamani A, Bakar SMA, et al. The clinical interface of tuberous sclerosis complex and autism spectrum disorder: insights and future directions. Neurol Sci. 2025 Feb 25. doi: 10.1007/s10072-025-08065-2.

Giorgi S, Auvin S, Schoonjans AS, Turón E, Sánchez-Miranda I, Gil-Nagel A, et al. A tool for Dravet syndrome-associated neuropsychiatric comorbidities evaluation (DANCE). Epilepsy Behav. 2024 Sep;158:109958. doi: 10.1016/j.yebeh.2024.109958.

Lesca G, Møller RS, Rudolf G, Hirsch E, Hjalgrim H, Szepetowski P. Update on the genetics of the epilepsy-aphasia spectrum and role of GRIN2A mutations. Epileptic Disord. 2019 Jun 1;21(S1):41-47. doi: 10.1684/epd.2019.1056.

Rochat MJ, Distefano G, Maffei M, Toni F, Posar A, Scaduto MC, et al. Brain Magnetic Resonance Findings in 117 Children with Autism Spectrum Disorder under 5 Years Old. Brain Sci. 2020 Oct 16;10(10):741. doi: 10.3390/brainsci10100741.

Byrne D, Fisher A, Baker L, Twomey EL, Gorman KM. Yield of brain MRI in children with autism spectrum disorder. Eur J Pediatr. 2023 Aug;182(8):3603-3609. doi: 10.1007/s00431-023-05011-2.

Floris DL, Howells H. Atypical structural and functional motor networks in autism. Prog Brain Res. 2018;238:207-248. doi: 10.1016/bs.pbr.2018.06.010.

Zigman T, Petkovic Ramadza D, Simic G, Baric I. Inborn Errors of Metabolism Associated With Autism Spectrum Disorders: Approaches to Intervention. Front Neurosci. 2021 May 28;15:673600. doi: 10.3389/fnins.2021.673600.

Tokatly Latzer I, Hanson E, Bertoldi M, DiBacco ML, Aygun D, Afacan O, et al. The neuropsychological profile of SSADH deficiency, a neurotransmitter disorder of GABA metabolism. Mol Genet Metab. 2025 Mar;144(3):109051. doi: 10.1016/j.ymgme.2025.109051.

Ghaziuddin M, Al-Owain M. Autism spectrum disorders and inborn errors of metabolism: an update. Pediatr Neurol. 2013 Oct;49(4):232-6. doi: 10.1016/j.pediatrneurol.2013.05.013.

Michelson DJ, Shevell MI, Sherr EH, Moeschler JB, Gropman AL, Ashwal S. Evidence report: Genetic and metabolic testing on children with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Neurology. 2011 Oct 25;77(17):1629-35. doi: 10.1212/WNL.0b013e3182345896.

Długosz A, Wróblewski M, Błaszak B, Szulc J. The Role of Nutrition, Oxidative Stress, and Trace Elements in the Pathophysiology of Autism Spectrum Disorders. Int J Mol Sci. 2025 Jan 18;26(2):808. doi: 10.3390/ijms26020808.

Croall ID, Hoggard N, Hadjivassiliou M. Gluten and Autism Spectrum Disorder. Nutrients. 2021;13(2):572. doi:10.3390/nu13020572.

Baj J, Flieger W, Flieger M, Forma A, Sitarz E, Skórzyńska-Dziduszko K, et al. Autism spectrum disorder: Trace elements imbalances and the pathogenesis and severity of autistic symptoms. Neurosci Biobehav Rev. 2021 Oct;129:117-132. doi: 10.1016/j.neubiorev.2021.07.029.

Li Y, Xiao P, Ding H, Wang H, Xu Q, Wang R, et al. Fecal Microbiota Transplantation in Children with Autism. Neuropsychiatr Dis Treat. 2024 Dec 9;20:2391-2400. doi: 10.2147/NDT.S488001.

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