American Psychiatric Association. Diagnostic and statistical manual of mental disorders. 5th ed., text rev. Washington, DC: American Psychiatric Publishing; 2022. doi:10.1176/appi.books.9780890425787

Kenny L, Hattersley C, Molins B, Buckley C, Povey C, Pellicano E. Which terms should be used to describe autism? Perspectives from the UK autism community. Autism. 2016;20(4):442-462. doi:10.1177/1362361315588200

Di Salvo M. Genetic research on autism: From the 'autism gene' to the 'genetic susceptibility base'. In: Autism research between psychology and neuroscience: From Leo Kanner to new frontiers. Cham: Springer Nature; 2024. doi:10.1007/978-3-031-68338-1_10

Di Salvo M. Etiological and co-etiological factors of autism. In: Autism research between psychology and neuroscience: From Leo Kanner to new frontiers. Cham: Springer Nature; 2024. doi:10.1007/978-3-031-68338-1_11

Di Salvo M. Autism global emergency: The new epidemiology, parenting, self-advocacy and neurodiversity movement. In: Autism research between psychology and neuroscience: From Leo Kanner to new frontiers. Cham: Springer Nature; 2024. doi:10.1007/978-3-031-68338-1_12

Arons MH, Lee K, Thynne CJ, Kim SA, Schob C, Kindler S, et al. Shank3 is part of a zinc-sensitive signaling system that regulates excitatory synaptic strength. J Neurosci. 2016;36(35):9124-9134. doi:10.1523/JNEUROSCI.0116-16.2016

Petrilli MA, Kranz TM, Kleinhaus K, Joe P, Getz M, Johnson P, et al. The emerging role for zinc in depression and psychosis. Front Pharmacol. 2017;8:414. doi:10.3389/fphar.2017.00414

Curtin P, Austin C, Curtin A, Gennings C, Arora M, Tammimies K, et al. Dynamical features in fetal and postnatal zinc-copper metabolic cycles predict the emergence of autism spectrum disorder. Sci Adv. 2018;4(5):eaat1293. doi:10.1126/sciadv.aat1293

Doboszewska U, Wla? P, Nowak G, Radziwo?-Zaleska M, Cui R, M?yniec K. Zinc in the monoaminergic theory of depression: Its relationship to neural plasticity. Neural Plast. 2017;2017:3682752. doi:10.1155/2017/3682752

Estes ML, McAllister AK. Maternal immune activation: Implications for neuropsychiatric disorders. Science. 2016;353(6301):772-777. doi:10.1126/science.aag3194

Page MJ, McKenzie JE, Bossuyt PM, Boutron I, Hoffmann TC, Mulrow CD, et al. The PRISMA 2020 statement: An updated guideline for reporting systematic reviews. BMJ. 2021;372:n71. doi:10.1136/bmj.n71

Shea BJ, Reeves BC, Wells G, Thuku M, Hamel C, Moran J, et al. AMSTAR 2: A critical appraisal tool for systematic reviews of healthcare interventions. BMJ. 2017;358:j4008. doi:10.1136/bmj.j4008

Sporns O, Tononi G, Kötter R. The human connectome: A structural description of the human brain. PLoS Comput Biol. 2005;1(4):e42. doi:10.1371/journal.pcbi.0010042

Courchesne E, Pierce K. Why the frontal cortex in autism might be talking only to itself: Local over-connectivity but long-distance disconnection. Curr Opin Neurobiol. 2005;15(2):225-230. doi:10.1016/j.conb.2005.03.001

Geschwind DH, Levitt P. Autism spectrum disorders: Developmental disconnection syndromes. Curr Opin Neurobiol. 2007;17(1):103-111. doi:10.1016/j.conb.2007.01.009

Redcay E, Courchesne E. When is the brain enlarged in autism? A meta-analysis of all brain size reports. Biol Psychiatry. 2005;58(1):1-9. doi:10.1016/j.biopsych.2005.03.026

Kanner L. Autistic disturbances of affective contact. Nervous Child. 1943;2:217-230.

Courchesne E, Carper R, Akshoomoff N. Evidence of brain overgrowth in the first year of life in autism. JAMA. 2003;290(3):337-344. doi:10.1001/jama.290.3.337

Bailey A, Le Couteur A, Gottesman I, Bolton P, Simonoff E, Yuzda E, et al. Autism as a strongly genetic disorder: Evidence from a British twin study. Psychol Med. 1995;25(1):63-77. doi:10.1017/s0033291700028099

Steffenburg S, Gillberg C, Hellgren L, Andersson L, Gillberg IC, Jakobsson G, et al. A twin study of autism in Denmark, Finland, Iceland, Norway and Sweden. J Child Psychol Psychiatry. 1989;30(3):405-416. doi:10.1111/j.1469-7610.1989.tb00254.x

Hallmayer J, Cleveland S, Torres A, Phillips J, Cohen B, Torigoe T, et al. Genetic heritability and shared environmental factors among twin pairs with autism. Arch Gen Psychiatry. 2011;68(11):1095-1102. doi:10.1001/archgenpsychiatry.2011.76

Satterstrom FK, Kosmicki JA, Wang J, Breen MS, De Rubeis S, An JY, et al. Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism. Cell. 2020;180(3):568-584.e23. doi:10.1016/j.cell.2019.12.036

Huttenlocher PR, Dabholkar AS. Regional differences in synaptogenesis in human cerebral cortex. J Comp Neurol. 1997;387(2):167-178. doi:10.1002/(sici)1096-9861(19971020)387:2<167::aid-cne1>3.0.co;2-z

Tang G, Gudsnuk K, Kuo SH, Cotrina ML, Rosoklija G, Sosunov A, et al. Loss of mTOR-dependent macroautophagy causes autistic-like synaptic pruning deficits. Neuron. 2014;83(5):1131-1143. doi:10.1016/j.neuron.2014.07.040

Atladóttir HO, Thorsen P, Østergaard L, Schendel DE, Lemcke S, Abdallah M, et al. Maternal infection requiring hospitalization during pregnancy and autism spectrum disorders. J Autism Dev Disord. 2010;40(12):1423-1430. doi:10.1007/s10803-010-1006-y

Lee BK, Magnusson C, Gardner RM, Blomström Å, Newschaffer CJ, Burstyn I, et al. Maternal hospitalization with infection during pregnancy and risk of autism spectrum disorders. Brain Behav Immun. 2015;44:100-105. doi:10.1016/j.bbi.2014.09.001

Meyer U, Feldon J, Yee BK. A review of the fetal brain cytokine imbalance hypothesis of schizophrenia. Schizophr Bull. 2009;35(5):959-972. doi:10.1093/schbul/sbn022

Choi GB, Yim YS, Wong H, Kim S, Kim H, Kim SV, et al. The maternal interleukin-17a pathway in mice promotes autism-like phenotypes in offspring. Science. 2016;351(6276):933-939. doi:10.1126/science.aad0314

Hultman CM, Sparén P, Cnattingius S. Perinatal risk factors for infantile autism. Epidemiology. 2002;13(4):417-423. doi:10.1097/00001648-200207000-00009

Frederickson CJ, Koh JY, Bush AI. The neurobiology of zinc in health and disease. Nat Rev Neurosci. 2005;6(6):449-462. doi:10.1038/nrn1671

Suh SW, Won SJ, Hamby AM, Yoo BH, Fan Y, Sheline CT, et al. Decreased brain zinc availability reduces hippocampal neurogenesis in mice and rats. J Cereb Blood Flow Metab. 2009;29(9):1579-1588. doi:10.1038/jcbfm.2009.80

Prasad AS. Discovery of human zinc deficiency: Its impact on human health and disease. Adv Nutr. 2013;4(2):176-190. doi:10.3945/an.112.003210

Saghazadeh A, Rezaei N. Brain-derived neurotrophic factor levels in autism: A systematic review and meta-analysis. J Autism Dev Disord. 2017;47(7):2018-2029. doi:10.1007/s10803-017-3141-1

Armeanu R, Mokkonen M, Crespi B. Meta-analysis of BDNF levels in autism. Cell Mol Neurobiol. 2017;37(6):949-954. doi:10.1007/s10571-016-0441-7

Zheng Z, Zhang L, Zhu T, Huang J, Qu Y, Mu D. Peripheral brain-derived neurotrophic factor in autism spectrum disorder: A systematic review and meta-analysis. Sci Rep. 2016;6:31241. doi:10.1038/srep31241

Skogstrand K, Hagen CM, Borbye-Lorenzen N, Christiansen M, Bybjerg-Grauholm J, Bækvad-Hansen M, et al. Reduced neonatal brain-derived neurotrophic factor is associated with autism spectrum disorders. Transl Psychiatry. 2019;9(1):168. doi:10.1038/s41398-019-0487-2

Barbosa AG, Pratesi R, Paz GSC, Dos Santos MAAL, Uenishi RH, Nakano EY, et al. Assessment of BDNF serum levels as a diagnostic marker in children with autism spectrum disorder. Sci Rep. 2020;10:17345. doi:10.1038/s41598-020-74203-x

Liu YK, Gao H, Jin SB, Tu WJ, Chen YJ. Association of neonatal blood levels of brain-derived neurotrophic factor with development of autism spectrum disorder: A systematic review and meta-analysis. World J Pediatr. 2024;20:102-110. doi:10.1007/s12519-023-00789-9

Dincheva I, Glatt CE, Lee FS. Impact of the BDNF Val66Met polymorphism on cognition. Biol Psychiatry. 2016;79(2):80-86. doi:10.1016/j.biopsych.2015.09.014

Arons MH, Thynne CJ, Grabrucker AM, Li D, Schoen M, Cheyne JE, et al. Autism associated mutations in ProSAP2/Shank3 impair synaptic transmission and Neurexin-Neuroligin mediated transsynaptic signaling. J Neurosci. 2012;32(43):14966-14978. doi:10.1523/JNEUROSCI.2215-12.2012

Grabrucker AM, Schmeisser MJ, Schoen M, Boeckers TM. Postsynaptic ProSAP/Shank scaffolds in the cross-hair of synaptopathies. Cell Tissue Res. 2011;343(1):93-105. doi:10.1007/s00441-010-1050-4

Monteiro P, Feng G. SHANK proteins: roles at the synapse and in autism spectrum disorder. Nat Rev Neurosci. 2017;18(3):147-157. doi:10.1038/nrn.2016.183

Atladóttir HO, Henriksen TB, Schendel DE, Parner ET. Autism after infection, febrile episodes, and antibiotic use during pregnancy: an exploratory study. Pediatrics. 2012;130(6):e1447-e1454. doi:10.1542/peds.2012-1107

Zerbo O, Qian Y, Yoshida C, Grether JK, Van de Water J, Croen LA. Maternal infection during pregnancy and autism spectrum disorders. J Autism Dev Disord. 2015;45(12):4015-4025. doi:10.1007/s10803-015-2494-6

Croen LA, Qian Y, Ashwood P, Zerbo O, Schendel D, Pinto-Martin J, et al. Infection and fever in pregnancy and autism spectrum disorders: Findings from the Study to Explore Early Development. Autism Res. 2019;12(10):1551-1561. doi:10.1002/aur.2173

Hornig M, Bresnahan MA, Che X, Schultz AF, Ukaigwe JE, Eddy ML, et al. Prenatal fever and autism risk. Mol Psychiatry. 2018;23(3):759-766. doi:10.1038/mp.2017.119

Jiang HY, Xu LL, Shao L, Xia RM, Yu ZH, Ling ZX, et al. Maternal infection during pregnancy and risk of autism spectrum disorders: A systematic review and meta-analysis. Brain Behav Immun. 2016;58:165-172. doi:10.1016/j.bbi.2016.06.005

Brown AS, Surcel HM, Hinkka-Yli-Salomäki S, Cheslack-Postava K, Bao Y, Sourander A. Maternal antibodies to dietary antigens and risk for autism spectrum disorders in offspring. Am J Epidemiol. 2015;181(9):672-679. doi:10.1093/aje/kwu341

Libbey JE, Sweeten TL, McMahon WM, Fujinami RS. Autistic disorder and viral infections. J Neurovirol. 2005;11(1):1-10. doi:10.1080/13550280590900553

Yamashita Y, Fujimoto C, Nakajima E, Isagai T, Matsuishi T. Possible association between congenital cytomegalovirus infection and autistic disorder. J Autism Dev Disord. 2003;33(4):455-459. doi:10.1023/a:1025021701599

Chess S. Autism in children with congenital rubella. J Autism Child Schizophr. 1971;1(1):33-47. doi:10.1007/BF01537741

Hashimoto K, Iwata Y, Nakamura K, Tsujii M, Tsuchiya KJ, Sekine Y, et al. Reduced serum levels of brain-derived neurotrophic factor in adult male patients with autism. Prog Neuropsychopharmacol Biol Psychiatry. 2006;30(8):1529-1531. doi:10.1016/j.pnpbp.2006.04.012

Nishimura K, Nakamura K, Anitha A, Yamada K, Tsujii M, Iwayama Y, et al. Genetic analyses of the brain-derived neurotrophic factor (BDNF) gene in autism. Biochem Biophys Res Commun. 2007;356(1):214-219. doi:10.1016/j.bbrc.2007.02.145

Correia CT, Coutinho AM, Sequeira AF, Sousa IG, Lourenço Venda L, Almeida JP, et al. Increased BDNF levels and NTRK2 gene association suggest a disruption of BDNF/TrkB signaling in autism. Genes Brain Behav. 2010;9(7):841-848. doi:10.1111/j.1601-183X.2010.00616.x

Sheikh AM, Malik M, Wen G, Chauhan A, Chauhan V, Gong CX, et al. BDNF-Akt-Bcl2 antiapoptotic signaling pathway is compromised in the brain of autistic subjects. J Neurosci Res. 2010;88(12):2642-2647. doi:10.1002/jnr.22436

Pendyala G, Chou S, Jung Y, Coiro P, Spartz E, Padmashri R, et al. Maternal immune activation causes behavioral impairments and altered cerebellar cytokine and synaptic protein expression. Neuropsychopharmacology. 2017;42(7):1435-1446. doi:10.1038/npp.2017.7

Fernández de Cossío L, Guzmán A, van der Veldt S, Luheshi GN. Prenatal infection leads to ASD-like behavior and altered synaptic pruning in the mouse offspring. Brain Behav Immun. 2017;63:88-98. doi:10.1016/j.bbi.2016.09.028

Cie?lik M, G?ssowska-Dobrowolska M, J??ko H, Czapski GA, Wilkaniec A, Zawadzka M, et al. Maternal immune activation induces neuroinflammation and cortical synaptic deficits in the adolescent rat. Int J Mol Sci. 2020;21(11):4097. doi:10.3390/ijms21114097

Shin Yim Y, Park A, Berrios J, Lafourcade M, Pascual LM, Soares N, et al. Reversing behavioural abnormalities in mice exposed to maternal inflammation. Nature. 2017;549(7673):482-487. doi:10.1038/nature23909

Zeng X, Fan L, Qin Q, Ren Z, Guo Y, Chen J, et al. Exogenous PD-L1 binds to PD-1 to alleviate and prevent autism-like behaviors in maternal immune activation-induced male offspring mice. Brain Behav Immun. 2024;122:527-546. doi:10.1016/j.bbi.2024.08.042

Yasuda H, Tsutsui T. Assessment of infantile mineral imbalances in autism spectrum disorders (ASDs). Int J Environ Res Public Health. 2013;10(11):6027-6043. doi:10.3390/ijerph10116027

Faber S, Zinn GM, Kern JC 2nd, Kingston HM. The plasma zinc/serum copper ratio as a biomarker in children with autism spectrum disorders. Biomarkers. 2009;14(3):171-180. doi:10.1080/13547500902783747

Li SO, Wang JL, Bjørklund G, Zhao TY, Li XJ. Serum copper and zinc levels in individuals with autism spectrum disorders: A systematic review and meta-analysis. Metab Brain Dis. 2021;36(5):793-805. doi:10.1007/s11011-021-00698-2

Bjørklund G, Meguid NA, El-Ansary A, El-Bana MA, Dadar M, Aaseth J, et al. Diagnostic and severity-tracking biomarkers for autism spectrum disorder. Mol Neurobiol. 2019;56(9):6399-6411. doi:10.1007/s12035-019-1529-5

Grabrucker S, Jannetti L, Eckert M, Gaub S, Chhabra R, Pfaender S, et al. Zinc deficiency dysregulates the synaptic ProSAP/Shank scaffold and might contribute to autism spectrum disorders. Brain Res. 2014;1585:92-103. doi:10.1016/j.brainres.2014.07.049

Hagmeyer S, Mangus K, Boeckers TM, Grabrucker AM. Effects of trace metal profiles characteristic for autism on synapses in cultured neurons. Neural Plast. 2015;2015:985083. doi:10.1155/2015/985083

Grabrucker AM. Environmental factors in autism: The role of zinc. Neural Plast. 2014;2014:829154. doi:10.1155/2014/829154

Nozari M, Ghasemi M, Amiri S, Ghaedi K, Gholami M, Omrani MD, et al. Zinc supplementation in children with autism spectrum disorder: A double-blind randomized placebo-controlled trial. J Trace Elem Med Biol. 2019;53:106-111. doi:10.1016/j.jtemb.2019.02.005

Vinkhuyzen AAE, Eyles DW, Burne THJ, Blanken LME, Kruithof CJ, Verhulst F, et al. Gestational vitamin D deficiency and autism-related traits: The Generation R Study. Mol Psychiatry. 2018;23(2):240-246. doi:10.1038/mp.2016.213

Raznahan A, Toro R, Proitsi P, Powell J, Paus T, Bolton PF, et al. A functional polymorphism of the brain derived neurotrophic factor gene and cortical anatomy in autism spectrum disorder. J Neurodev Disord. 2009;1(3):195-203. doi:10.1007/s11689-009-9028-8

Meng WD, Sun SJ, Yang J, Chu RX, Tu W, Liu Q. Elevated serum brain-derived neurotrophic factor (BDNF) but not BDNF gene Val66Met polymorphism is associated with autism spectrum disorders. Mol Neurobiol. 2017;54(2):1234-1242. doi:10.1007/s12035-016-9713-3

Halepoto DM, Bashir S, A L-Ayadhi L. Possible role of brain-derived neurotrophic factor (BDNF) in autism spectrum disorder: current status. J Coll Physicians Surg Pak. 2014;24(11):833-838.

Ahmed OG, Shehata GA, Ali RM, Makboul R, Abd Allah ESH, Abd El-Rady NM. Folic acid ameliorates neonatal isolation-induced autistic like behaviors in rats: epigenetic modifications of BDNF and GFAP promotors. Appl Physiol Nutr Metab. 2021;46(10):1217-1226. doi:10.1139/apnm-2020-0923

Al-Ayadhi LY. Relationship between Sonic hedgehog protein, brain-derived neurotrophic factor and oxidative stress in autism spectrum disorders. Neurochem Res. 2012;37(2):376-382. doi:10.1007/s11064-011-0624-8

Almeida LE, Roby CD, Krueger BK. Increased BDNF expression in fetal brain in the valproic acid model of autism. Mol Cell Neurosci. 2014;63:86-93. doi:10.1016/j.mcn.2014.10.003

Camuso S, La Rosa P, Fiorenza MT, Canterini S. Pleiotropic effects of BDNF on the cerebellum and hippocampus: Implications for neurodevelopmental disorders. Neurobiol Dis. 2022;170:105758. doi:10.1016/j.nbd.2022.105758

Carpita B, Stagnari R, Palego L, Baroni D, Massimetti G, Nardi B, et al. Circulating levels of 5-HT and BDNF in adults with autism spectrum conditions: An investigation in a sample of subjects with autism spectrum disorder, their first-degree relatives and controls. Curr Med Chem. 2024;31(22):3390-3405. doi:10.2174/0929867331666230913103400

Carpita B, Nardi B, Bonelli C, Pascariello L, Massimetti G, Cremone IM, et al. Platelet levels of brain-derived neurotrophic factor in adults with autism spectrum disorder: Is there a specific association with autism spectrum psychopathology? Biomedicines. 2024;12(7):1529. doi:10.3390/biomedicines12071529

Cui T, Liu Z, Li Z, Han Y, Xiong W, Qu Z, et al. Serum brain-derived neurotrophic factor concentration is different between autism spectrum disorders and intellectual disability children and adolescents. J Psychiatr Res. 2024;170:355-360. doi:10.1016/j.jpsychires.2024.01.022

Jacob F, Monod J. Genetic regulatory mechanisms in the synthesis of proteins. J Mol Biol. 1961;3:318-356. doi:10.1016/s0022-2836(61)80072-7