Autismus: Kindheit – Krankheit – Menschheit

Mit „Autismus“ (altgriechisch autós: selbst[ ¹ ]) bezeichnet man eine im Kindesalter auftretende Störung der Entwicklung eines Menschen, die vor allem den Kontakt und die Kommunikation mit anderen Menschen betrifft. Das Kind reagiert nicht oder nur verzögert auf Ansprache, wendet sich nicht zu, nimmt keinen Blickkontakt auf, interessiert sich mehr für Sachen als für Menschen und neigt zum Wiederholen der immer gleichen Verhaltensweisen. Die Sprachentwicklung und die intellektuelle Entwicklung können normal sein, sind jedoch bei etwa einem Drittel der Betroffenen gestört.

Das Wort und der Begriff „Autismus“ wurde von Eugen Bleuler in seinem Buch über Schizophrenie im Jahr 1911 in die Psychiatrie eingeführt und als Veränderung der Beziehung „des Binnenlebens mit der Außenwelt“ (S. 51) definiert [9]. „Das Binnenleben bekommt ein krankhaftes Übergewicht (Autismus)“ (S. 51). Für Bleuler war dieses „krankhafte Übergewicht des Innenlebens“ neben Störungen des Denkens, Wollens und Affekts (die er „Grundsymptome“ der Schizophrenie nannte) eine besonders wichtige Störung „zusammengesetzter geistiger Funktionen.“ Er beschreibt Autismus bei schizophrenen Patienten wie folgt:[ ² ] „Die schwersten Schizophrenen […] leben in einer Welt für sich; sie haben sich mit ihren Wünschen, die sie als erfüllt betrachten, […] in sich selbst verpuppt und beschränken den Kontakt mit der Außenwelt so weit wie möglich“ [9].

Publication History

Article published online:
05 May 2022

• Literatur

• 1 Andreasen NC, Ehrhardt JC, Swayze VW. et al Magnetic resonance imaging of the brain in schizophrenia: The pathophysiologic significance of structural abnormalities. Arch Gen Psychiatry 1990; 47: 35-44
• 2 Andreasen NC, Nasrallah HA, Dunn V. et al Hat size in schizophrenia-reply. Arch Gen Psychiatry 1987; 44: 674-676
• 3 Andreasen NC, Nasrallah HA, Dunn V. et al Structural abnormalities in the frontal system in schizophrenia. Arch Gen Psychiatry 1986; 43: 136-144
• 4 Asperger H. Das psychisch abnorme Kind. In: Wiener klinische Wochenschrift 1938; 51 (49) 1314-1317
• 5 Asperger H. Die „Autistischen Psychopathen“ im Kindesalter. Archiv für Psychiatrie und Nervenkrankheiten 1944; 117: 73-136
• 6 Assaf M, Jagannathan K, Calhoun VD. et al Abnormal functional connectivity of default mode sub-networks in autism spectrum disorder patients. Neuroimage 2020; 53: 247-256
• 7 Atkinson EG, Audesse AJ, Palacios JA. et al No Evidence for Recent Selection at FOXP2 among Diverse Human Populations. Cell 2018; 174: 1424-1435
• 8 Bailey A, Palferman S, Heavey L. et al Autism: the phenotype in relatives. J Autism Dev Disord 1998; 28: 369-392
• 9 Bleuler E.. Dementia Praecox oder Gruppe der Schizophrenien. Leipzig: Franz Deuticke; 1911
• 10 Boschi A, Planche P, Hemimou C. et al From High Intellectual Potential to Asperger Syndrome: Evidence for Differences and a Fundamental Overlap-A Systematic Review. Front Psychol 2016: 7
• 11 Boxer S.. The Man He Always Wanted to Be. The New York Times, 26.1.1997. https://archive.nytimes.com/www.nytimes.com/books/97/01/26/reviews/970126.boxer.html abgerufen am 9.3.2022
• 12 Brunet M, Guy F, Pilbeam D. et al A new hominid from the Upper Miocene of Chad, Central Africa. Nature 2002; 418: 145-151
• 13 Castells-Nobau A, Eidhof I, Fenckova M. et al Conserved regulation of neurodevelopmental processes and behavior by FoxP in Drosophila. PLoS One 2019; 14: e0211652
• 14 Choi L, An JY. Genetic architecture of autism spectrum disorder: Lessons from large-scale genomic studies. Neurosci Biobehav Rev 2021; 128: 244-257
• 15 Conant GC, Wolfe KH. Turning a hobby into a job: how duplicated genes find new functions. Nat Rev Genet 2008; 09: 938-950
• 16 Coors ME, Glover JJ, Juengst ET. et al The ethics of using transgenic non-human primates to study what makes us human. Nat Rev Genet 2010; 11: 658-662
• 17 Crespi B, Badcock C. Psychosis and autism as diametrical disorders of the social brain. Behavioral and brain sciences 2008; 31: 241-260
• 18 Crespi B, Stead P, Elliot M. Evolution in health and medicine Sackler colloquium: Comparative genomics of autism and schizophrenia. PNAS 107 Suppl 2010; 01: 1736-1741
• 19 Crow TJ. A theory of the evolutionary origins of psychosis. Eur Neuropsychopharmacol 1995; 05 Suppl 59-63
• 20 Crow TJ. Is schizophrenia the price that Homo sapiens pays for language?. Schizophr Res 1997; 28: 127-141
• 21 Crow TJ. Schizophrenia as the price that Homo sapiens pays for language: a resolution of the central paradox in the origin of the species. Brain Res Rev 2000; 31: 118-129
• 22 Davis JM, Heft I, Scherer SW. et al A Third Linear Association Between Olduvai (DUF1220) Copy Number and Severity of the Classic Symptoms of Inherited Autism. Am J Psychiatry 2019; 176: 643-650
• 23 Davis JM, Heft I, Scherer SW. et al A Third Linear Association Between Olduvai (DUF1220) Copy Number and Severity of the Classic Symptoms of Inherited Autism. Am J Psychiatry 2019; 176: 643-650
• 24 Davis JM, Searles Quick VB. et al Replicated linear association between DUF1220 copy number and severity of social impairment in autism. Hum Genet 2015; 134: 569-575
• 25 Davis JM, Searles VB, Anderson N. et al DUF1220 copy number is linearly associated with increased cognitive function as measured by total IQ and mathematical aptitude scores. Hum Genet 2014; 134: 67-75
• 26 Davis JM, Searles VB, Anderson N. et al DUF1220 dosage is linearly associated with increasing severity of the three primary symptoms of autism. PLoS Genet 2014: 10
• 27 De Lisi LE, Goldin LR. Hat size in Schizophrenia. Arch Gen Psychiatry 1987; 44: 672-673
• 28 Deutsch CK, Joseph RM. Brief report: cognitive correlates of enlarged head circumference in children with autism. J Autism Dev Disord 2003; 33: 209-215
• 29 DiCarlo GE, Wallace MT. Modeling dopamine dysfunction in autism spectrum disorder: From invertebrates to vertebrates. Neurosci Biobehav Rev 2022: 133
• 30 Dobzhansky T. Nothing in biology makes sense except in the light of evolution. Am Biol Teach 1975; 35: 125-129
• 31 DSM-5. Diagnostic and statistical manual of Mental Disorders. Washington: American Psychiatric Association, 2013
• 32 Dong H-Y, Wang B, Li H-H. et al Correlation Between Screen Time and Autistic Symptoms as Well as Development Quotients in Children With Autism Spectrum Disorder. Front Psychiatry 2021; 12: 619994
• 33 Dumas LJ, O’Bleness MS, Davis JM. et al DUF1220-domain copy number implicated in human brain-size pathology and evolution. Am J Hum Gene 2021; 91: 444-454
• 34 El-Gebali S, Mistry J, Bateman A. et al The Pfam protein families database in 2019. Nucleic Acids 2019; 47 D1 D427-D432
• 35 Elton A, Di Martino A, Hazlett HC. et al Neural connectivity evidence for a categorical-dimensional hybrid model of autism spectrum disorder. Biol Psychiatry 2016; 80: 120-128
• 36 Emerson RW, Adams C, Nishino T. 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; 09 (393) eaag2882
• 37 Folstein S, Rutter M. Infantile Autism: a Genetic Study of 21 Twin Pairs. The Journal of Child Psychology and Psychiatry 2017; 18: 297-321
• 38 Geschwind DH, Levitt P. Autism spectrum disorders: Developmental disconnection syndromes. Curr Opin Neurobiol 2007; 17: 103-111
• 39 Gong X, Jia M, Ruan Y. et al Association between the FOXP2 gene and autistic disorder in Chinese population. Am J Med Genet B Neuropsychiatr Genet 2004; 127: B: 113-116
• 40 Gould SJ.. The Mismeasure of Man. New York: WW Norton; 1981
• 41 Gualtieri CT. Genomic Variation, Evolvability, and the Paradox of Mental Illness. Front Psychiatry 2021; 11: 593233
• 42 Guo X, Wang J, Wang X. et al Diagnosing autism spectrum disorder in children using conventional MRI and apparent diffusion coefficient based deep learning algorithms. Eur Radiol 2022; 32 (02) 761-770
• 43 Haier RJ.. The Neuroscience of Intelligence. Cambridge: University Press; 2017
• 44 Häuser R, Pech M, Kijek J. et al RsfA (YbeB) proteins are conserved ribosomal silencing factors. PLoS Genet 2012; 08: e1002815
• 45 Hazlett HC, Gu H, Munsell BC. et al Early brain development in infants at high risk for autism spectrum disorder. Nature 2017; 542: 348-351
• 46 Hazlett HC, Poe M, Gerig G. et al Magnetic resonance imaging and head circumference study of brain size in autism: birth through age 2 years. Arch Gen Psychiatry 2005; 62: 1366-1376
• 47 Hazlett HC, Poe MD, Gerig G. et al Early brain overgrowth in autism associated with an increase in cortical surface area before age 2 years. Arch Gen Psychiatry 2011; 68: 467-476
• 48 Heft IE, Mostovoy Y, Levy-Sakin M. et al The Driver of Extreme Human-Specific Olduvai Repeat Expansion Remains Highly Active in the Human Genome. Genetics 2020; 214: 179-191
• 49 Heide M, Huttner WB. Human-Specific Genes, Cortical Progenitor Cells, and Microcephaly. Cells 2021; 10: 1209
• 50 Herculano-Houzel S. The human brain in numbers: a linearly scaled-up primate brain. Front Hum Neurosci 2009; 03: 31
• 51 Herculano-Houzel S, Catania K, Manger PR. et al Mammalian Brains Are Made of These: A Dataset of the Numbers and Densities of Neuronal and Nonneuronal Cells in the Brain of Glires, Primates, Scandentia, Eulipotyphlans, Afrotherians and Artiodactyls, and Their Relationship with Body Mass. Brain Behav Evol 2015; 86: 145-163
• 52 Huxley J, Nayr E, Osmond H. et al Schizophrenia as a genetic morphism. Nature 1964; 204: 220-221
• 53 ICD-11. International Classification of Diagnoses for Mortality and Morbidity Statistics, 2022
• 54 Just M, Cherkassky V, Keller T. et al Cortical activation and synchronization during sentence comprehension in high-functioning autism: evidence of underconnectivity. Brain 2014; 127: 1811-1821
• 55 Kana RK, Libero LE, Moore MS. Disrupted cortical connectivity theory as an explanatory model for autism spectrum disorders. Phys Life Rev 2011; 08: 410-437
• 56 Kanner L. Autistic disturbances of affective contact. Nervous Child 1943; 02: 217-250
• 57 Kanner L. Follow-up study of eleven autistic children originally reported in 1943. Journal of Autism and Childhood Schizophrenia 1971; 01: 119-149
• 58 Keeney JG, Davis JM, Siegenthaler J. et al DUF1220 protein domains drive proliferation in human neural stem cells and are associated with increased cortical volume in anthropoid primates. Brain Struct Funct 2015; 220: 3053-3060
• 59 Keeney JG, O’Bleness MS, Anderson N. et al Generation of mice lacking DUF1220 protein domains: effects on fecundity and hyperactivity. Mamm Genome 2015; 26: 33-42
• 60 Kircher T, Bröhl H, Meier F. et al Formal thought disorders: from phenomenology to neurobiology. Lancet Psychiatry 2018; 05: 515-526
• 61 Krishnan V, Krishnakumar P, Gireeshan VK. et al Early Social Experience and Digital-Media Exposure in Children with Autism Spectrum Disorder. Indian J Pediatr 2021; 88: 793-799
• 62 Lai CS, Fisher SE, Hurst JA. et al A forkhead-domain gene is mutated in a severe speech and language disorder. Nature 2001; 413: 519-523
• 63 Lauer S, Gresham D. An evolving view of copy number variants. Curr Genet 2019; 65: 1287-1295
• 64 Leakey MD, Hay RL. Pliocene footprints in the Laetoli Beds at Laetoli, northern Tanzania. Nature 1979; 278: 317-323
• 65 Lee JJ, McGue M, Iacono WG. et al The causal influence of brain size on human intelligence: Evidence from within-family phenotypic associations and GWAS modeling. Intelligence 2019; 75: 48-58
• 66 Lek M, Karczewski K, Minikel E. et al Analysis of protein-coding genetic variation in 60.706 humans. Nature 2016; 536: 285-291
• 67 Liégeois F, Baldeweg T, Connelly A. et al Language fMRI abnormalities associated with FOXP2 gene mutation. Nat Neurosci 2003; 06: 1230-1237
• 68 Lord C, Brugha TS, Charman T, Cusack J, Dumas G, Frazier T, Jones EJH, Jones RM, Pickles A, State MW, Taylor JL, Veenstra-VanderWeele J. 2020; Autism spectrum disorder. Nat Rev Dis Primers 06: 5 (doi: 10.1038/s41572-019-0138-4)
• 69 Lorenzini L, van Wingen G, Cerliani L. Atypically high influence of subcortical activity on primary sensory regions in autism. Neuroimage Clin 2021: 102839 DOI: 10.1016/j.nicl.2021.102839
• 70 Lynch CJ, Uddin LQ, Supekar K. et al Default mode network in childhood autism: Posteromedial cortex heterogeneity and relationship with social deficits. Biol Psychiatry 2013; 74: 212-219
• 71 Maximo JO, Kana RK. Aberrant “deep connectivity” in autism: A cortico-subcortical functional connectivity magnetic resonance imaging study. Autism Res 2019; 12: 384-400
• 72 Mercader J, Akuku P, Boivin N. et al Earliest Olduvai hominins exploited unstable environments ~ 2 million years ago. Nat Commun 2021; 12: 3
• 73 Minio-Paluello I, Porciello G, Pascual-Leone A. et al Face individual identity recognition: a potential endophenotype in autism. Mol Autism 2020; 11: 81
• 74 Monk CS, Peltier SJ, Wiggins JL. et al Abnormalities of intrinsic functional connectivity in autism spectrum disorders. Neuroimage 2009; 47: 764-772
• 75 Nave G, Jung WH, Linnér KR. et al Are Bigger Brains Smarter? Evidence From a Large-Scale Preregistered Study. Psychological Science 2019; 30: 43-50
• 76 O’Bleness MS, Dickens CM, Dumas LJ. et al Evolutionary history and genome organization of DUF1220 protein domains. G3 2012; 02: 977-986
• 77 Olabi B, Ellison-Wright I, McIntosh AM. et al Are there progressive brain changes in schizophrenia? A meta-analysis of structural magnetic resonance imaging studies. Biol Psychiatry 2011; 70: 88-96
• 78 Paulsen B, Velasco S, Kedaigle AJ. et al Autism genes converge on asynchronous development of shared neuron classes. Nature 2022; 602: 268-273
• 79 Petraglia M.. Urmenschen in der Oldupai-Schlucht bewältigten Umweltveränderungen. Max-Planck-Institut für Menschheitsgeschichte, 7. Januar 2021. www.shh.mpg.de/1936811/petraglia-oldupai-gorge?c=1936384 abgerufen am 15.2.2021
• 80 Pietschnig J, Penke L, Wicherts JM. et al Meta-analysis of associations between human brain volume and intelligence differences: How strong are they and what do they mean?. Neurosci Biobehav Rev 2015; 57: 411-432
• 81 Piven J, Arndt S, Bailey J. et al An MRI study of brain size in autism. Am J Psychiatry 1995; 152: 1145-1149
• 82 Polimanti R, Gelernter J. Widespread signatures of positive selection in common risk alleles associated to autism spectrum disorder. PLoS Genet 2017; 13: 2
• 83 Prakash A, Banerjee M. Genomic selection signatures in autism spectrum disorder identifies cognitive genomic tradeoff and its relevance in paradoxical phenotypes of deficits versus potentialities. Sci Rep 2021; 11 (01) 10245
• 84 Razek AA, Mazroa J, Baz H. Assessment of white matter integrity of autistic preschool children with diffusion weighted MR imaging. Brain Dev 2014; 36: 28-34
• 85 Redcay E, Courchesne E. When is the brain enlarged in autism? A meta-analysis of all brain size reports. Biol Psychiatry 2005; 58: 1-9
• 86 Riccioni A, Pro S, Di Criscio L. et al High Intellectual Potential and High Functioning Autism: Clinical and Neurophysiological Features in a Pediatric Sample. Brain Sci 2021; 11: 1607
• 87 Ruthsatz J, Petrill SA, Li N. et al Molecular Genetic Evidence for Shared Etiology of Autism and Prodigy. Hum Hered 2015; 79: 53-59
• 88 Sanjuán J, Castro-Martínez XH, García-Martí G. et al FOXP2 expression and gray matter density in the male brains of patients with schizophrenia. Brain Imaging Behav 2021; 15: 1403-1411
• 89 Sanjuán J, Tolosa A, González JC. et al Association between FOXP2 polymorphisms and schizophrenia with auditory hallucinations. Psychiatr Genet 2006; 16: 67-72
• 90 Schijns OEMG, Koehler PJ. Adolf Meyer: the neuroanatomist and neuropsychiatrist behind Meyer’s loop and its significance in neurosurgery. Brain 2020; 143: 1039-1044
• 91 Schirmer B. Autismus und NS-Rassengesetze in Österreich 1938: Hans Aspergers Verteidigung der »autistischen Psychopathen« gegen die NS-Eugenik. Die neue Sonderschule 2002; 47: 460-464
• 92 Shen MD, Nordahl CW, Young GS. et al Early brain enlargement and elevated extra-axial fluid in infants who develop autism spectrum disorder. Brain 2013; 136: 2825-2835
• 93 Sikela JM, Quick VBJ. Genomic trade-offs: are autism and schizophrenia the steep price of the human brain?. Human Genetics 2018; 137: 1-13
• 94 Sikela JM, van Roy F. Changing the name of the NBPF/DUF1220 domain to the Olduvai domain [version 2; peer review: 3 approved]. F1000Research 2018; 06: 2185
• 95 Sousa AMM, Meyer KA, Santpere G. et al Evolution of the Human Nervous System Function, Structure, and Development. Cell 2017; 170: 226-247
• 96 Spitzer M (2021) ????
• 97 Stevens JR, Waldmon IN. Hat size in Schizophrenia. Arch Gen Psychiatry 1987; 44: 673-674
• 98 Sztainberg Y, Zoghbi HY. Lessons learned from studying syndromic autism spectrum disorders. Nat Neurosci 2016; 19: 1408-1417
• 99 Tick B, Bolton P, Happé F. et al Heritability of autism spectrum disorders: a meta-analysis of twin studies. J Child Psychol Psychiatry 2016; 57: 585-595
• 100 Tiedemann L.. Das Hirn des Negers mit dem des Europäers und Orang-Outangs verglichen. Heidelberg: Karl Winter Verlag; 1837
• 101 Tomasi D, Volkow ND. Reduced Local and Increased Long-Range Functional Connectivity of the Thalamus in Autism Spectrum Disorder. Cereb Cortex 2019; 29: 573-585
• 102 Vandepoele K, Van Roy N, Staes K. et al A Novel Gene Family NBPF: Intricate Structure Generated by Gene Duplications During Primate Evolution. Molecular Biology and Evolution 2005; 22: 2265-2274
• 103 Vargha-Khadem F, Gadian DG. et al FOXP2 and the neuroanatomy of speech and language. Nat Rev Neurosci 2005; 06: 131-138
• 104 Ward KE, Friedman L, Wise A. et al Meta-analysis of brain and cranial size in schizophrenia. Schizophr Res 1996; 22: 197-213
• 105 Weinberger D, Berman KF, Iadarola M. et al Hat size in Schizophrenia. Arch Gen Psychiatry 1987; 44: 672
• 106 Weiner DJ, Wigdor EM, Ripke S. et al Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders. Nat Genet 2017; 49: 978-985
• 107 Wetlaufer DB.. Nucleation, Rapid Folding, and Globular Intrachain Regions in Proteins PNAS. 1973; 70: 697-701
• 108 Williams ZJ, Suzman E, Woynaroski TG. Prevalence of Decreased Sound Tolerance (Hyperacusis) in Individuals With Autism Spectrum Disorder: A Meta-Analysis. Ear Hear 2021; 42: 1137-1150
• 109 Wright IC, Rabe-Hesketh S, Woodruff PW. et al Meta-analysis of regional brain volumes in schizophrenia. Am J Psychiatry 2000; 157: 16-25
• 110 Xie Y, Xu Z, Xia M. et al Alterations in Connectome Dynamics in Autism Spectrum Disorder: A Harmonized Mega- and Meta-analysis Study Using the Autism Brain Imaging Data Exchange Dataset. Biol Psychiatry. 2021 S0006-3223(21)01837–0
• 111 Xu K, Schadt EE, Pollard KS. et al Genomic and Network Patterns of Schizophrenia Genetic Variation in Human Evolutionary Accelerated Regions. Molecular Biology and Evolution 2015; 32: 1148-1160
• 112 Zimmer F, Montgomery SH. Phylogenetic Analysis Supports a Link between DUF1220 Domain Number and Primate Brain Expansion. Genome Biol Evol 2015; 07: 2083-2088
• 113 Haijma SV, Van Haren N, Cahn W. et al Brain volumes in schizophrenia: a meta-analysis in over 18 000 subjects. Schizophr Bull 2013; 39: 1129-1138
• 114 Brunetti-Pierri N, Berg JS, Scaglia F. et al Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet 2008; 40: 1466-1471
• 115 Mefford HC, Sharp AJ, Baker C. et al Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med 2008; 359: 1685-1699
• 116 Shu W, Cho JY, Jiang Y. et al Altered ultrasonic vocalization in mice with a disruption in the Foxp2 gene. PNAS 2005; 102: 9643-9648