Battle DE. Diagnostic and statistical manual of mental disorders (DSM). Codas. 2013;25:191–2.
Maenner MJ, Shaw KA, Bakian AV, Bilder DA, Durkin MS, Esler A, et al. Prevalence and characteristics of autism spectrum disorder among children aged 8 years—autism and developmental disabilities monitoring network, 11 sites, United States, 2018. MMWR Surveill Summ. 2021;70:1–16.
Billeiter KB, Froiland JM. Diversity of intelligence is the norm within the autism spectrum: full scale intelligence scores among children with ASD. Child Psychiatry Hum Dev. 2023;54:1094–101.
Ben-Itzchak E, Watson LR, Zachor DA. Cognitive ability is associated with different outcome trajectories in autism spectrum disorders. J Autism Dev Disord. 2014;44:2221–9.
Masataka N. Implications of the idea of neurodiversity for understanding the origins of developmental disorders. Phys Life Rev. 2017;20:85–108.
Bai D, Yip BHK, Windham GC, Sourander A, Francis R, Yoffe R, et al. Association of genetic and environmental factors with autism in a 5-country cohort. JAMA Psychiatry. 2019;76:1035–43.
Sandin S, Lichtenstein P, Kuja-Halkola R, Hultman C, Larsson H, Reichenberg A. The heritability of autism spectrum disorder. JAMA. 2017;318:1182–4.
Sebat J, Lakshmi B, Malhotra D, Troge J, Lese-Martin C, Walsh T, et al. Strong association of de novo copy number mutations with autism. Science. 2007;316:445–9.
Iossifov I, O’Roak BJ, Sanders SJ, Ronemus M, Krumm N, Levy D, et al. The contribution of de novo coding mutations to autism spectrum disorder. Nature. 2014;515:216–21.
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;51:431–44.
Manolio TA, Collins FS, Cox NJ, Goldstein DB, Hindorff LA, Hunter DJ, et al. Finding the missing heritability of complex diseases. Nature. 2009;461:747–53.
Torske T, Naerland T, Bettella F, Bjella T, Malt E, Hoyland AL, et al. Autism spectrum disorder polygenic scores are associated with every day executive function in children admitted for clinical assessment. Autism Res. 2020;13:207–20.
LaBianca S, LaBianca J, Pagsberg AK, Jakobsen KD, Appadurai V, Buil A, et al. Copy number variants and polygenic risk scores predict need of care in autism and/or ADHD families. J Autism Dev Disord. 2021;51:276–85.
Polderman TJ, Benyamin B, de Leeuw CA, Sullivan PF, van Bochoven A, Visscher PM, et al. Meta-analysis of the heritability of human traits based on fifty years of twin studies. Nat Genet. 2015;47:702–9.
Lee JJ, Wedow R, Okbay A, Kong E, Maghzian O, Zacher M, et al. Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. Nat Genet. 2018;50:1112–21.
Jansen PR, Nagel M, Watanabe K, Wei Y, Savage JE, de Leeuw CA, et al. Genome-wide meta-analysis of brain volume identifies genomic loci and genes shared with intelligence. Nat Commun. 2020;11:5606.
Fombonne E, Roge B, Claverie J, Courty S, Fremolle J. Microcephaly and macrocephaly in autism. J Autism Dev Disord. 1999;29:113–9.
Pagnozzi AM, Conti E, Calderoni S, Fripp J, Rose SE. A systematic review of structural MRI biomarkers in autism spectrum disorder: a machine learning perspective. Int J Dev Neurosci. 2018;71:68–82.
Lee JJ, McGue M, Iacono WG, Michael AM, Chabris CF. The causal influence of brain size on human intelligence: evidence from within-family phenotypic associations and GWAS modeling. Intelligence. 2019;75:48–58.
Fetit R, Hillary RF, Price DJ, Lawrie SM. The neuropathology of autism: a systematic review of post-mortem studies of autism and related disorders. Neurosci Biobehav Rev. 2021;129:35–62.
Carper RA, Courchesne E. Inverse correlation between frontal lobe and cerebellum sizes in children with autism. Brain. 2000;123:836–44.
Chiurazzi P, Kiani AK, Miertus J, Paolacci S, Barati S, Manara E, et al. Genetic analysis of intellectual disability and autism. Acta Biomed. 2020;91:e2020003.
Jensen M, Smolen C, Girirajan S. Gene discoveries in autism are biased towards comorbidity with intellectual disability. J Med Genet. 2020;57:647–52.
Russell G, Mandy W, Elliott D, White R, Pittwood T, Ford T. Selection bias on intellectual ability in autism research: a cross-sectional review and meta-analysis. Mol Autism. 2019;10:9.
Clarke TK, Lupton MK, Fernandez-Pujals AM, Starr J, Davies G, Cox S, et al. Common polygenic risk for autism spectrum disorder (ASD) is associated with cognitive ability in the general population. Mol Psychiatry. 2016;21:419–25.
Bulik-Sullivan B, Finucane HK, Anttila V, Gusev A, Day FR, Loh PR, et al. An atlas of genetic correlations across human diseases and traits. Nat Genet. 2015;47:1236–41.
Kim YR, Song DY, Bong G, Han JH, Yoo HJ. Loss of acquired skills: regression in young children with autism spectrum disorders. Soa Chongsonyon Chongsin Uihak. 2023;34:51–56.
Tan C, Frewer V, Cox G, Williams K, Ure A. Prevalence and age of onset of regression in children with autism spectrum disorder: a systematic review and meta-analytical update. Autism Res. 2021;14:582–98.
Vivanti G, Tao S, Lyall K, Robins DL, Shea LL. The prevalence and incidence of early-onset dementia among adults with autism spectrum disorder. Autism Res. 2021;14:2189–99.
Smeland OB, Bahrami S, Frei O, Shadrin A, O’Connell K, Savage J, et al. Genome-wide analysis reveals extensive genetic overlap between schizophrenia, bipolar disorder, and intelligence. Mol Psychiatry. 2020;25:844–53.
O’Connell KS, Shadrin A, Smeland OB, Bahrami S, Frei O, Bettella F, et al. Identification of genetic loci shared between attention-deficit/hyperactivity disorder, intelligence, and educational attainment. Biol Psychiatry. 2020;87:1052–62.
Bahrami S, Shadrin A, Frei O, O’Connell KS, Bettella F, Krull F, et al. Genetic loci shared between major depression and intelligence with mixed directions of effect. Nat Hum Behav. 2021;5:795–801.
Frei O, Holland D, Smeland OB, Shadrin AA, Fan CC, Maeland S, et al. Bivariate causal mixture model quantifies polygenic overlap between complex traits beyond genetic correlation. Nat Commun. 2019;10:2417.
Bulik-Sullivan BK, Loh PR, Finucane HK, Ripke S, Yang J, Patterson N, et al. LD Score regression distinguishes confounding from polygenicity in genome-wide association studies. Nat Genet. 2015;47:291.
Smeland OB, Frei O, Shadrin A, O’Connell K, Fan CC, Bahrami S, et al. Discovery of shared genomic loci using the conditional false discovery rate approach. Hum Genet. 2020;139:85–94.
Watanabe K, Taskesen E, van Bochoven A, Posthuma D. FUMA: functional mapping and annotation of genetic associations. Eur Neuropsychopharmacol. 2019;29:S789–90.
Krapohl E, Rimfeld K, Shakeshaft NG, Trzaskowski M, McMillan A, Pingault JB, et al. The high heritability of educational achievement reflects many genetically influenced traits, not just intelligence. Proc Natl Acad Sci USA. 2014;111:15273–8.
Warrier V, Zhang X, Reed P, Havdahl A, Moore TM, Cliquet F, et al. Genetic correlates of phenotypic heterogeneity in autism. Nat Genet. 2022;54:1293–304.
Watanabe K, Taskesen E, van Bochoven A, Posthuma D. Functional mapping and annotation of genetic associations with FUMA. Nat Commun. 2017;8:1826.
Day FR, Ong KK, Perry JRB. Elucidating the genetic basis of social interaction and isolation. Nat Commun. 2018;9:2457.
Savage JE, Jansen PR, Stringer S, Watanabe K, Bryois J, de Leeuw CA, et al. Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence. Nat Genet. 2018;50:912–9.
Pedersen CB, Bybjerg-Grauholm J, Pedersen MG, Grove J, Agerbo E, Bækvad-Hansen M, et al. The iPSYCH2012 case-cohort sample: new directions for unravelling genetic and environmental architectures of severe mental disorders. Mol Psychiatry. 2018;23:6–14.
Cross-Disorder Group of the Psychiatric Genomics C, Lee SH, Ripke S, Neale BM, Faraone SV, Purcell SM, et al. Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat Genet. 2013;45:984–94.
Fry A, Littlejohns TJ, Sudlow C, Doherty N, Adamska L, Sprosen T, et al. Comparison of sociodemographic and health-related characteristics of UK Biobank participants with those of the general population. Am J Epidemiol. 2017;186:1026–34.
Binfield P. At PLoS ONE we’re batty about bats. PLoS: Public Library of Science, Vol. 2009; 2008, p Web log message.
MacArthur J, Bowler E, Cerezo M, Gil L, Hall P, Hastings E, et al. The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog). Nucleic Acids Res. 2017;45:D896–D901.
Andreassen OA, Djurovic S, Thompson WK, Schork AJ, Kendler KS, O’Donovan MC, et al. Improved detection of common variants associated with schizophrenia by leveraging pleiotropy with cardiovascular-disease risk factors. Am J Hum Genet. 2013;92:197–209.
Bulik-Sullivan BK, Loh PR, Finucane HK, Ripke S, Yang J, Schizophrenia Working Group of the Psychiatric Genomics C. et al. LD Score regression distinguishes confounding from polygenicity in genome-wide association studies. Nat Genet. 2015;47:291–5.
Werme J, van der Sluis S, Posthuma D, de Leeuw CA. An integrated framework for local genetic correlation analysis. Nat Genet. 2022;54:274–82.
Consortium GT, Laboratory DA, Coordinating Center-Analysis Working G, Statistical Methods groups-Analysis Working G, Enhancing Gg, Fund NIHC. Genetic effects on gene expression across human tissues. Nature. 2017;550:204–13.
Smeland OB, Frei O, Dale AM, Andreassen OA. The polygenic architecture of schizophrenia – rethinking pathogenesis and nosology. Nat Rev Neurol. 2020;16:366–79.
Crespi BJ. Autism as a disorder of high Intelligence. Front Neurosci. 2016;10:300.
Karpinski RI, Kinase Kolb AM, Tetreault NA, Borowski TB. High intelligence: a risk factor for psychological and physiological overexcitabilities. Intelligence. 2018;66:8–23.
Le Hellard S, Wang Y, Witoelar A, Zuber V, Bettella F, Hugdahl K, et al. Identification of gene loci that overlap between schizophrenia and educational attainment. Schizophr Bull. 2017;43:654–64.
Marien P, Borgatti R. Language and the cerebellum. Handb Clin Neurol. 2018;154:181–202.
Su LD, Xu FX, Wang XT, Cai XY, Shen Y. Cerebellar dysfunction, cerebro-cerebellar connectivity and autism spectrum disorders. Neuroscience. 2021;462:320–7.
Stoodley CJ, D’Mello AM, Ellegood J, Jakkamsetti V, Liu P, Nebel MB, et al. Altered cerebellar connectivity in autism and cerebellar-mediated rescue of autism-related behaviors in mice. Nat Neurosci. 2017;20:1744–51.
Bhat AN. Motor impairment increases in children with autism spectrum disorder as a function of social communication, cognitive and functional impairment, repetitive behavior severity, and comorbid diagnoses: a SPARK study report. Autism Res. 2021;14:202–19.
Elvsashagen T, Bahrami S, van der Meer D, Agartz I, Alnaes D, Barch DM, et al. The genetic architecture of human brainstem structures and their involvement in common brain disorders. Nat Commun. 2020;11:4016.
Martin Lorenzo S, Nalesso V, Chevalier C, Birling MC, Herault Y. Targeting the RHOA pathway improves learning and memory in adult Kctd13 and 16p11.2 deletion mouse models. Mol Autism. 2021;12:1.
Happe F. Why are savant skills and special talents associated with autism? World Psychiatry. 2018;17:280–1.
Avgerinos KI, Spyrou N, Bougioukas KI, Kapogiannis D. Effects of creatine supplementation on cognitive function of healthy individuals: A systematic review of randomized controlled trials. Exp Gerontol. 2018;108:166–73.
Wang Y, Jia A, Cao Y, Hu X, Wang Y, Yang Q, et al. Hippo kinases MST1/2 regulate immune cell functions in cancer, infection, and autoimmune diseases. Crit Rev Eukaryot Gene Expr. 2020;30:427–42.
Pangrazzi L, Balasco L, Bozzi Y. Oxidative stress and immune system dysfunction in autism spectrum disorders. Int J Mol Sci. 2020;21:3293.
McAfoose J, Baune BT. Evidence for a cytokine model of cognitive function. Neurosci Biobehav Rev. 2009;33:355–66.
Yirmiya R, Goshen I. Immune modulation of learning, memory, neural plasticity and neurogenesis. Brain Behav Immun. 2011;25:181–213.
Gall Z, Szekely O. Role of vitamin D in cognitive dysfunction: new molecular concepts and discrepancies between animal and human findings. Nutrients. 2021;13:3672.
Wang Z, Ding R, Wang J. The association between vitamin D status and autism spectrum disorder (ASD): a systematic review and meta-analysis. Nutrients. 2020;13:86.
Veenit V, Riccio O, Sandi C. CRHR1 links peripuberty stress with deficits in social and stress-coping behaviors. J Psychiatr Res. 2014;53:1–7.
Chou KL, Cacioppo JT, Kumari M, Song YQ. Influence of social environment on loneliness in older adults: Moderation by polymorphism in the CRHR1. Am J Geriatr Psychiatry. 2014;22:510–8.
Wang XD, Chen Y, Wolf M, Wagner KV, Liebl C, Scharf SH, et al. Forebrain CRHR1 deficiency attenuates chronic stress-induced cognitive deficits and dendritic remodeling. Neurobiol Dis. 2011;42:300–10.
Abrahams BS, Arking DE, Campbell DB, Mefford HC, Morrow EM, Weiss LA, et al. SFARI Gene 2.0: a community-driven knowledgebase for the autism spectrum disorders (ASDs). Mol Autism. 2013;4:36.
Moreno-Igoa M, Hernandez-Charro B, Bengoa-Alonso A, Perez-Juana-del-Casal A, Romero-Ibarra C, Nieva-Echebarria B, et al. KANSL1 gene disruption associated with the full clinical spectrum of 17q21.31 microdeletion syndrome. BMC Med Genet. 2015;16:68.
Giannini LAA, Bulk M, Kenkhuis B, Rajicic A, Melhem S, Hegeman-Kleinn I, et al. Cortical iron accumulation in MAPT- and C9orf 72-associated frontotemporal lobar degeneration. Brain Pathol. 2023;33:e13158.
Wakabayashi T, Hidaka R, Fujimaki S, Asashima M, Kuwabara T. Diabetes impairs Wnt3 protein-induced neurogenesis in olfactory bulbs via glutamate transporter 1 inhibition. J Biol Chem. 2016;291:15196–211.
Caracci MO, Avila ME, Espinoza-Cavieres FA, Lopez HR, Ugarte GD, De Ferrari GV. Wnt/beta-catenin-dependent transcription in autism spectrum disorders. Front Mol Neurosci. 2021;14:764756.