Otizm Biyobelirteçleri ve Güncel Gelişmeler

Rossignol DA, Frye RE. A review of research trends in physiological abnormalities in autism spectrum disorders: immune dysregulation, inflammation, oxidative stress, mitochondrial dysfunction and environmental toxicant exposures. Mol Psychiatry. 2012;17:389-401.

McGrew SG, Peters BR, Crittendon JA, Veenstra-VanderWeele J. Diagnostic yield of chro- mosomal microarray analysis in an autism primary care practice: which guidelines to imple- ment? J Autism Dev Disord. 2012;42:1582-1591.

Schaefer GB, Lutz RE. Diagnostic yield in the clinical genetic evaluation of autism spectrum disorders. Genet Med. 2006;8:549-556.

Herman GE, Henninger N, Ratliff-Schaub K, Pastore M, Fitzgerald S, McBride KL. Genetic testing in autism: how much is enough? Genet Med. 2007;9:268-274.

Abdul-Rahman OA, Hudgins L. The diagnostic utility of a genetics evaluation in children with pervasive developmental disorders. Genet Med. 2006;8:50-54.

Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet. 2010;86:749-764.

Devlin B, Scherer SW. Genetic architecture in autism spectrum disorder. Curr Opin Genet Dev. 2012;22:229-237.

Smalley SL. Autism and tuberous sclerosis. J Autism Dev Disord. 1998;28:407-414.

Bailey DB Jr, Raspa M, Olmsted M, Holiday DB. Co-occurring conditions associated with FMR1 gene variations: findings from a national parent survey. Am J Med Genet A. 2008;146:2060-2069.

Chaste P, Roeder K, Devlin B. The Yin and Yang of autism genetics: how rare de novo and common variations affect liability. Annu Rev Genomics Hum Genet. 2017;18:167-187.

Grove J, Ripke S, Als TD, Mattheisen M, Walters RK, Won H, et al. Identification of common genetic risk variants for autism spectrum disorder. Nat Genet. 2019;51:431-444.

Acuna-Hidalgo R, Veltman JA, Hoischen A. New insights into the generation and role of de novo mutations in health and disease. Genome Biol. 2016;17:1-19.

Persico AM, Napolioni V. Autism genetics. Behav Brain Res. 2013;251:95-112.

Glessner JT, Wang K, Cai G, Korvatska O, Kim CE, Wood S, et al. Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature. 2009;459:569-573.

Perzel Mandell KA, Eagles NJ, Deep-Soboslay A, Tao R, Han S, Wilton R, et al. Molecular phenotypes associated with antipsychotic drugs in the human caudate nucleus. Mol Psychi- atry. 2022;27:2061-2067.

Persico AM, Bourgeron T. Searching for ways out of the autism maze: genetic, epigenetic and environmental clues. Trends Neurosci. 2006;29:349-358.

Loke YJ, Hannan AJ, Craig JM. The role of epigenetic change in autism spectrum disorders. Front Neurol. 2015;6:107.

Aref-Eshghi E, Rodenhiser DI, Schenkel LC, Lin H, Skinner C, Ainsworth P, et al. Genomic DNA methylation signatures enable concurrent diagnosis and clinical genetic variant classifi- cation in neurodevelopmental syndromes. Am J Hum Genet. 2018;102:156-174.

Wong CC, Smith RG, Hannon E, Ramaswami G, Parikshak NN, Assary E, et al. Genome-wi- de DNA methylation profiling identifies convergent molecular signatures associated with idiopathic and syndromic autism in post-mortem human brain tissue. Hum Mol Genet. 2019;28:2201-2211.

Nguyen A, Rauch TA, Pfeifer GP, Hu VW. Global methylation profiling of lymphoblastoid cell lines reveals epigenetic contributions to autism spectrum disorders and a novel autism candi- date gene, RORA, whose protein product is reduced in autistic brain. FASEB J. 2010;24:3036- 3048.103.

Wong C, Meaburn EL, Ronald A, Price T, Jeffries AR, Schalkwyk L, et al. Methylomic analysis of monozygotic twins discordant for autism spectrum disorder and related behavioural traits. Mol Psychiatry. 2014;19:495-503.

Andrews SV, Sheppard B, Windham GC, Schieve LA, Schendel DE, Croen LA, et al. Ca- se-control meta-analysis of blood DNA methylation and autism spectrum disorder. Mol Au- tism. 2018;9:1-11.

Feinberg JI, Bakulski KM, Jaffe AE, Tryggvadottir R, Brown SC, Goldman LR, et al. Paternal sperm DNA methylation associated with early signs of autism risk in an autism-enriched cohort. Int J Epidemiol. 2015;44:1199-1210.

Ladd-Acosta C, Hansen KD, Briem E, Fallin MD, Kaufmann WE, Feinberg AP. Common DNA methylation alterations in multiple brain regions in autism. Mol Psychiatry. 2014;19:862-871.

Nardone S, Sams DS, Zito A, Reuveni E, Elliott E. Dysregulation of cortical neuron DNA methylation profile in autism spectrum disorder. Cereb Cortex. 2017;27:5739-5754.

Nardone S, Sharan Sams D, Reuveni E, Getselter D, Oron O, Karpuj M, et al. DNA methy- lation analysis of the autistic brain reveals multiple dysregulated biological pathways. Transl Psychiatry. 2014;4:e433.

Guo B-Q, Ding S-B, Li H-B. Blood biomarker levels of methylation capacity in autism spect- rum disorder: a systematic review and meta-analysis. Acta Psychiatr Scand. 2020;141:492-509.

Sun W, Poschmann J, Cruz-Herrera del Rosario R, Parikshak NN, Hajan HS, Kumar V, et al. Histone acetylome-wide association study of autism spectrum disorder. Cell. 2016;167:1385- 1397.e11.

Mundalil Vasu M, Anitha A, Thanseem I, Suzuki K, Yamada K, Takahashi T, et al. Serum microRNA profiles in children with autism. Mol Autism. 2014;5:1-9.

Cirnigliaro M, Barbagallo C, Gulisano M, Domini CN, Barone R, Barbagallo D, et al. Exp- ression and regulatory network analysis of miR-140-3p, a new potential serum biomarker for autism spectrum disorder. Front Mol Neurosci. 2017;10:250.

Cheng W, Zhou S, Zhou J, Wang X. Identification of a robust non-coding RNA signature in diagnosing autism spectrum disorder by cross-validation of microarray data from peripheral blood samples. Medicine. 2020;99:e19484.

Junaid MA, Kowal D, Barua M, Pullarkat PS, Sklower Brooks S, Pullarkat RK. Proteomic studies identified a single nucleotide polymorphism in glyoxalase I as autism susceptibility factor. Am J Med Genet A. 2004;131:11-17.

Broek JA, Guest PC, Rahmoune H, Bahn S. Proteomic analysis of post mortem brain tissue from autism patients: evidence for opposite changes in prefrontal cortex and cerebellum in synaptic connectivity-related proteins. Mol Autism. 2014;5:1-8.

Oztan O, Garner JP, Constantino JN, Parker KJ. Neonatal CSF vasopressin concentration pre- dicts later medical record diagnoses of autism spectrum disorder. Proc Natl Acad Sci U S A. 2020;117:10609-10613.

Oztan O, Garner JP, Partap S, Sherr EH, Hardan AY, Farmer C, et al. Cerebrospinal fluid va- sopressin and symptom severity in children with autism. Ann Neurol. 2018;84:611-615.

Carson DS, Howerton CL, Garner JP, Hyde SA, Clark CL, Hardan AY, et al. Plasma vasopres- sin concentrations positively predict cerebrospinal fluid vasopressin concentrations in human neonates. Peptides. 2014;61:12-16.

Ngounou Wetie AG, Wormwood KL, Russell S, Ryan JP, Darie CC, Woods AG. A pilot proteo- mic analysis of salivary biomarkers in autism spectrum disorder. Autism Res. 2015;8:338-350.

Suganya V, Geetha A, Sujatha S. Urine proteome analysis to evaluate protein biomarkers in children with autism. Clin Chim Acta. 2015;450:210-219.

Schwarz E, Guest PC, Rahmoune H, Wang L, Levin Y, Ingudomnukul E, et al. Sex-specific serum biomarker patterns in adults with Asperger's syndrome. Mol Psychiatry. 2011;16:1213-1220.

Sriwimol W, Limprasert P. Significant changes in plasma alpha-synuclein and beta-synuclein levels in male children with autism spectrum disorder. Biomed Res Int. 2018;2018:4503871.

Kadak MT, Cetin I, Tarakçıoğlu MC, Özer ÖF, Kaçar S, Çimen B. Low serum level alpha-sy- nuclein and tau protein in autism spectrum disorder compared to controls. Neuropediatrics. 2015;46:410-415.

Mesleh AG, Abdulla SA, El-Agnaf O. Paving the way toward personalized medicine: current advances and challenges in multi-OMICS approach in autism spectrum disorder for biomar- kers discovery and patient stratification. J Pers Med. 2021;11:41.

Hammock E, Veenstra-VanderWeele J, Yan Z, Kerr TM, Morris M, Anderson GM, et al. Exa- mining autism spectrum disorders by biomarkers: example from the oxytocin and serotonin systems. J Am Acad Child Adolesc Psychiatry. 2012;51:712-721.e1.

Walum H, Lichtenstein P, Neiderhiser JM, Reiss D, Ganiban JM, Spotts EL, et al. Variation in the oxytocin receptor gene is associated with pair-bonding and social behavior. Biol Psychi- atry. 2012;71:419-426.

Melke J, Goubran Botros H, Chaste P, Betancur C, Nygren G, Anckarsäter H, et al. Abnormal melatonin synthesis in autism spectrum disorders. Mol Psychiatry. 2008;13:90-98.

Wang L, Li J, Ruan Y, Lu T, Liu C, Jia M, et al. Sequencing ASMT identifies rare mutations in Chinese Han patients with autism. PLoS One. 2013;8:e53727.

Anderson GM, Horne WC, Chatterjee D, Cohen DJ. The hyperserotonemia of autism. Ann N Y Acad Sci. 1990;600:331-340.

McBride PA, Anderson GM, Hertzig ME, Snow ME, Thompson SM, Khait VD, et al. Effects of diagnosis, race, and puberty on platelet serotonin levels in autism and mental retardation. J Am Acad Child Adolesc Psychiatry. 1998;37:767-776.

Smith AM, King JJ, West PR, Ludwig MA, Donley EL, Burrier RE, et al. Amino acid dysre- gulation metabotypes: potential biomarkers for diagnosis and individualized treatment for subtypes of autism spectrum disorder. Biol Psychiatry. 2019;85:345-354.

Liu X, Lin J, Zhang H, Khan NU, Zhang J, Tang X, et al. Oxidative stress in autism spectrum di- sorder—current progress of mechanisms and biomarkers. Front Psychiatry. 2022;13:813304.

Chen L, Shi XJ, Liu H, Mao X, Gui LN, Wang H, et al. Oxidative stress marker aberrations in children with autism spectrum disorder: a systematic review and meta-analysis of 87 studies (N=9109). Transl Psychiatry. 2021;11:15.

Xie X, Zhou R, Fang Z, Zhang Y, Wang Q, Liu X. Seeing beyond words: visualizing autism spectrum disorder biomarker insights. Heliyon. 2024;10:e30420.

Rossignol D, Frye RE. Mitochondrial dysfunction in autism spectrum disorders: a systematic review and meta-analysis. Mol Psychiatry. 2012;17:290-314.

Adams JB, Johansen LJ, Powell LD, Quig D, Rubin RA. Gastrointestinal flora and gastroin- testinal status in children with autism–comparisons to typical children and correlation with autism severity. BMC Gastroenterol. 2011;11:1-13.

De Angelis M, Piccolo M, Vannini L, Siragusa S, De Giacomo A, Serrazzanetti DI, et al. Fecal microbiota and metabolome of children with autism and pervasive developmental disorder not otherwise specified. PLoS One. 2013;8:e76993.

Hsiao EY, McBride SW, Hsien S, Sharon G, Hyde ER, McCue T, et al. Microbiota modulate behavioral and physiological abnormalities associated with neurodevelopmental disorders. Cell. 2013;155:1451-1463.

Kang DW, Park JG, Ilhan ZE, Wallstrom G, LaBaer J, Adams JB, et al. Reduced incidence of Prevotella and other fermenters in intestinal microflora of autistic children. PLoS One. 2013;8:e68322.

Dinan TG, Stilling RM, Stanton C, Cryan JF. Collective unconscious: how gut microbes shape human behavior. J Psychiatr Res. 2015;63:1-9.

Chaidez V, Hansen RL, Hertz-Picciotto I. Gastrointestinal problems in children with autism, developmental delays or typical development. J Autism Dev Disord. 2014;44:1117-1127.

Shaw W. Increased urinary excretion of a 3-(3-hydroxyphenyl)-3-hydroxypropionic acid (HP- HPA), an abnormal phenylalanine metabolite of Clostridia spp. in the gastrointestinal tract, in urine samples from patients with autism and schizophrenia. Nutr Neurosci. 2010;13:135-143.

Olesova D, Galba J, Piestansky J, Celusakova H, Repiska G, Babinska K, et al. A novel UHPL- C-MS method targeting urinary metabolomic markers for autism spectrum disorder. Meta- bolites. 2020;10:443.

Altieri L, Neri C, Sacco R, Curatolo P, Benvenuto A, Muratori F, et al. Urinary p-cresol is ele- vated in small children with severe autism spectrum disorder. Biomarkers. 2011;16:252-260.

Ashwood P, Wills S, Van de Water J. The immune response in autism: a new frontier for au- tism research. J Leukoc Biol. 2006;80:1-15.

Parellada M, Andreu-Bernabeu A, Burdeus M, San Jose Caceres A, Urbiola E, Carpenter LL, et al. In search of biomarkers to guide interventions in autism spectrum disorder: a systematic review. Am J Psychiatry. 2023;180:23-40.

Goines PE, Croen LA, Braunschweig D, Yoshida CK, Grether J, Hansen R, et al. Increased mi- dgestational IFN-gamma, IL-4 and IL-5 in women bearing a child with autism: a case-control study. Mol Autism. 2011;2:1-11.

Croen LA, Braunschweig D, Haapanen L, Yoshida CK, Fireman B, Grether JK, et al. Maternal mid-pregnancy autoantibodies to fetal brain protein: the early markers for autism study. Biol Psychiatry. 2008;64:583-588.

Sacco R, Lenti C, Saccani M, Curatolo P, Manzi B, Bravaccio C, et al. Cluster analysis of autis- tic patients based on principal pathogenetic components. Autism Res. 2012;5:137-147.

Morgan JT, Chana G, Pardo CA, Achim C, Semendeferi K, Buckwalter J, et al. Microglial activation and increased microglial density observed in the dorsolateral prefrontal cortex in autism. Biol Psychiatry. 2010;68:368-376.

Garcia-Forn M, Boitnott A, Akpinar Z, De Rubeis S. Linking autism risk genes to disruption of cortical development. Cells. 2020;9:2500.

Pierce K, Muller RA, Ambrose J, Allen G, Courchesne E. Face processing occurs outside the fusiform face area in autism: evidence from functional MRI. Brain. 2001;124:2059-2073.

Schmitz N, Rubia K, Daly E, Smith A, Williams S, Murphy DG. Neural correlates of executive function in autistic spectrum disorders. Biol Psychiatry. 2006;59:7-16.

Kleinhans NM, Muller RA, Cohen DN, Courchesne E. Atypical functional lateralization of language in autism spectrum disorders. Brain Res. 2008;1221:115-125.

Schmitz N, Rubia K, Van Amelsvoort T, Daly E, Smith A, Murphy DG. Neural correlates of reward in autism. Br J Psychiatry. 2008;192:19-24.

Kana RK, Keller TA, Minshew NJ, Just MA. Inhibitory control in high-functioning au- tism: decreased activation and underconnectivity in inhibition networks. Biol Psychiatry. 2007;62:198-206.

Kaiser MD, Hudac CM, Shultz S, Lee SM, Cheung C, Berken AM, et al. Neural signatures of autism. Proc Natl Acad Sci U S A. 2010;107:21223-21228.

Belmonte MK, Gomot M, Baron-Cohen S. Visual attention in autism families: unaffected sibs share atypical frontal activation. J Child Psychol Psychiatry. 2010;51:259-276.

Li X, Zhang K, He X, Zhou J, Jin C, Shen L, et al. Structural, functional, and molecular ima- ging of autism spectrum disorder. Neurosci Bull. 2021;37:1051-1071.

Emerson RW, Adams C, Nishino T, Hazlett HC, Wolff JJ, Zwaigenbaum L, et al. Functional neuroimaging of high-risk 6-month-old infants predicts a diagnosis of autism at 24 months of age. Sci Transl Med. 2017;9:eaag2882.

Ruggeri B, Sarkans U, Schumann G, Persico AM. Biomarkers in autism spectrum disorder: the old and the new. Psychopharmacology. 2014;231:1201-1216.

Haar S, Berman S, Behrmann M, Dinstein I. Anatomical abnormalities in autism. Cereb Cor- tex. 2016;26:1440-1452.

Ure AM, Treyvaud K, Thompson DK, Pascoe L, Roberts G, Lee KJ, et al. Neonatal brain ab- normalities associated with autism spectrum disorder in children born very preterm. Autism Res. 2016;9:543-552.

Schumann CM, Barnes CC, Lord C, Courchesne E. Amygdala enlargement in toddlers with autism related to severity of social and communication impairments. Biol Psychiatry. 2009;66:942-949.

Shen MD, Nordahl CW, Young GS, Wootton-Gorges SL, Lee A, Liston SE, et al. Early brain enlargement and elevated extra-axial fluid in infants who develop autism spectrum disorder. Brain. 2013;136:2825-2835.

Dawson G, Carver L, Meltzoff AN, Panagiotides H, McPartland J, Webb SJ. Neural correlates of face and object recognition in young children with autism spectrum disorder, developmen- tal delay, and typical development. Child Dev. 2002;73:700-717.

Joseph RM, Ehrman K, McNally R, Keehn B. Affective response to eye contact and face recog- nition ability in children with ASD. J Int Neuropsychol Soc. 2008;14:947-955.

Stuart N, Whitehouse A, Palermo R, Bothe E, Badcock N. Eye gaze in autism spectrum di- sorder: a review of neural evidence for the eye avoidance hypothesis. J Autism Dev Disord. 2023;53:1884-1905.

Bakeman R, Adamson LB. Coordinating attention to people and objects in mother-infant and peer-infant interaction. Child Dev. 1984;55:1278-1289.

Briskman J, Happe F, Frith U. Exploring the cognitive phenotype of autism: weak central coherence in parents and siblings of children with autism: II. Real-life skills and preferences. J Child Psychol Psychiatry. 2001;42:309-316.

Delorme R, Gousse V, Roy I, Trandafir A, Mathieu F, Mouren-Simeoni MC, et al. Shared exe- cutive dysfunctions in unaffected relatives of patients with autism and obsessive-compulsive disorder. Eur Psychiatry. 2007;22:32-38.

Wallace GL, Happe F, Giedd JN. A case study of a multiply talented savant with an autism spectrum disorder: neuropsychological functioning and brain morphometry. Philos Trans R Soc Lond B Biol Sci. 2009;364:1425-1432.

Patriquin MA, Hartwig EM, Friedman BH, Porges SW, Scarpa A. Autonomic response in autism spectrum disorder: relationship to social and cognitive functioning. Biol Psychol. 2019;145:185-197.

Fenning RM, Baker JK, Baucom BR, Erath SA, Howland MA, Moffitt J. Electrodermal varia- bility and symptom severity in children with autism spectrum disorder. J Autism Dev Disord. 2017;47:1062-1072.