{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,18]],"date-time":"2025-12-18T19:55:24Z","timestamp":1766087724226},"reference-count":130,"publisher":"Hogrefe Publishing Group","issue":"3","license":[{"start":{"date-parts":[[2022,5,1]],"date-time":"2022-05-01T00:00:00Z","timestamp":1651363200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Zeitschrift f\u00fcr Kinder- und Jugendpsychiatrie und Psychotherapie"],"published-print":{"date-parts":[[2022,5,1]]},"abstract":"<jats:p>Zusammenfassung. Die \u00c4tiologie der Autismus-Spektrum-St\u00f6rungen (ASS) ist in genetischen Risikofaktoren sowie der Interaktion von genetischen und biologisch wirksamen Umweltrisikofaktoren begr\u00fcndet. ASS werden aufgrund von Verhaltensmerkmalen, n\u00e4mlich bleibend eingeschr\u00e4nkter sozialer Kommunikation, sowie durch stereotypes Verhalten, sensorische und Sonderinteressen diagnostiziert. Hinsichtlich des genetischen Hintergrundes besteht eine hohe genetische Heterogenit\u00e4t, d. h., die genetischen Ursachen sind vielf\u00e4ltig und individuell oft sehr unterschiedlich ausgepr\u00e4gt. Allerdings konvergieren diese Ursachen in bestimmten biologischen Mechanismen und \u00fcberlappenden biologischen Endstrecken, deren Ver\u00e4nderung sehr wahrscheinlich den autismusspezifischen Verhaltensmerkmalen zugrunde liegt. Die vorliegende, selektive Literatur\u00fcbersicht summiert die genetischen Befunde und fokusiert sich insbesondere auf Mechanismen und Endstrecken, die aufgrund der neueren Forschung immer besser charakterisiert werden. Der Artikel schlie\u00dft mit Hinweisen zur klinischen Relevanz der aktuellen Befunde sowie offenen Fragen der translationalen Forschung.<\/jats:p>","DOI":"10.1024\/1422-4917\/a000803","type":"journal-article","created":{"date-parts":[[2021,6,15]],"date-time":"2021-06-15T14:58:05Z","timestamp":1623769085000},"page":"187-202","source":"Crossref","is-referenced-by-count":8,"title":["Genetische Risikofaktoren und ihre Auswirkungen auf die neurale Entwicklung bei Autismus-Spektrum-St\u00f6rungen"],"prefix":"10.1024","volume":"50","author":[{"given":"Christine M.","family":"Freitag","sequence":"first","affiliation":[{"name":"Klinik f\u00fcr Psychiatrie, Psychosomatik und Psychotherapie des Kindes- und Jugendalters, Universit\u00e4tsklinikum Frankfurt, Goethe-Universit\u00e4t, Frankfurt am Main, Deutschland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andreas G.","family":"Chiocchetti","sequence":"additional","affiliation":[{"name":"Klinik f\u00fcr Psychiatrie, Psychosomatik und Psychotherapie des Kindes- und Jugendalters, Universit\u00e4tsklinikum Frankfurt, Goethe-Universit\u00e4t, Frankfurt am Main, Deutschland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Denise","family":"Haslinger","sequence":"additional","affiliation":[{"name":"Klinik f\u00fcr Psychiatrie, Psychosomatik und Psychotherapie des Kindes- und Jugendalters, Universit\u00e4tsklinikum Frankfurt, Goethe-Universit\u00e4t, Frankfurt am Main, Deutschland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Afsheen","family":"Yousaf","sequence":"additional","affiliation":[{"name":"Klinik f\u00fcr Psychiatrie, Psychosomatik und Psychotherapie des Kindes- und Jugendalters, Universit\u00e4tsklinikum Frankfurt, Goethe-Universit\u00e4t, Frankfurt am Main, Deutschland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Regina","family":"Waltes","sequence":"additional","affiliation":[{"name":"Klinik f\u00fcr Psychiatrie, Psychosomatik und Psychotherapie des Kindes- und Jugendalters, Universit\u00e4tsklinikum Frankfurt, Goethe-Universit\u00e4t, Frankfurt am Main, Deutschland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"101","reference":[{"key":"c1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-008-0133-5"},{"key":"c2","doi-asserted-by":"publisher","DOI":"10.3390\/genes5030635"},{"key":"c3","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2018.00406"},{"key":"c4","doi-asserted-by":"publisher","DOI":"10.1038\/s41386-020-0610-6"},{"key":"c5","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/dds301"},{"key":"c6","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddq307"},{"key":"c7","doi-asserted-by":"publisher","DOI":"10.1038\/nature10658"},{"key":"c8","doi-asserted-by":"publisher","DOI":"10.1016\/j.neubiorev.2014.11.013"},{"key":"c9","doi-asserted-by":"publisher","DOI":"10.15585\/mmwr.ss6706a1"},{"key":"c10","doi-asserted-by":"publisher","DOI":"10.1186\/s11689-018-9242-0"},{"key":"c11","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2008.10.004"},{"key":"c12","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1002285107"},{"key":"c13","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2014.06.017"},{"key":"c14","doi-asserted-by":"publisher","DOI":"10.1007\/s00018-018-2988-4"},{"key":"c15","first-page":"551","volume":"16","author":"Bourgeron T.","year":"2015","journal-title":"Neuroscience"},{"key":"c16","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-neuro-071013-014100"},{"key":"c17","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2009.03523.x"},{"key":"c18","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2007.08.018"},{"key":"c19","doi-asserted-by":"publisher","DOI":"10.1007\/s11065-018-9380-x"},{"key":"c20","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2019-106080"},{"key":"c21","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms7404"},{"key":"c22","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(15)00069-1"},{"key":"c23","doi-asserted-by":"publisher","DOI":"10.1177\/0883073810361789"},{"key":"c24","doi-asserted-by":"publisher","DOI":"10.1016\/j.tig.2017.07.008"},{"key":"c25","doi-asserted-by":"publisher","DOI":"10.1038\/nm.4071"},{"key":"c26","doi-asserted-by":"publisher","DOI":"10.1016\/j.gde.2012.03.002"},{"key":"c27","doi-asserted-by":"publisher","DOI":"10.3390\/ijms20133363"},{"key":"c28","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.32631"},{"key":"c29","doi-asserted-by":"publisher","DOI":"10.1038\/ng1933"},{"key":"c30","doi-asserted-by":"publisher","DOI":"10.1186\/s13229-017-0119-y"},{"key":"c31","doi-asserted-by":"publisher","DOI":"10.1007\/s12311-008-0075-3"},{"key":"c32","doi-asserted-by":"publisher","DOI":"10.1016\/j.stem.2013.05.002"},{"key":"c33","doi-asserted-by":"publisher","DOI":"10.1016\/j.neubiorev.2016.10.018"},{"key":"c34","doi-asserted-by":"publisher","DOI":"10.1007\/s00115-017-0351-x"},{"key":"c35","doi-asserted-by":"publisher","DOI":"10.1007\/s00787-009-0076-x"},{"key":"c36","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3039"},{"key":"c37","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2008.09.002"},{"key":"c38","doi-asserted-by":"publisher","DOI":"10.1186\/1741-7015-7-62"},{"key":"c39","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-019-0344-8"},{"key":"c40","doi-asserted-by":"publisher","DOI":"10.3389\/fpsyt.2018.00564"},{"key":"c41","doi-asserted-by":"publisher","DOI":"10.1038\/nn.3919"},{"key":"c42","doi-asserted-by":"publisher","DOI":"10.1177\/1535370219863149"},{"key":"c43","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2016-104484"},{"key":"c44","doi-asserted-by":"publisher","DOI":"10.1186\/s13229-018-0239-z"},{"key":"c45","doi-asserted-by":"publisher","DOI":"10.1038\/s41525-018-0066-3"},{"key":"c46","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2010.69"},{"key":"c47","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-genom-091212-153431"},{"key":"c48","doi-asserted-by":"publisher","DOI":"10.1016\/j.brainres.2009.09.120"},{"key":"c49","doi-asserted-by":"publisher","DOI":"10.1038\/nature13908"},{"key":"c50","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000003002"},{"key":"c51","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.06.012"},{"key":"c52","doi-asserted-by":"publisher","DOI":"10.1017\/S1461145711001714"},{"key":"c53","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2016-1159F"},{"key":"c54","doi-asserted-by":"publisher","DOI":"10.1186\/2040-2392-3-9"},{"key":"c55","doi-asserted-by":"publisher","DOI":"10.1016\/j.spen.2020.100804"},{"key":"c56","doi-asserted-by":"publisher","DOI":"10.1016\/j.tins.2013.11.005"},{"key":"c57","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3303"},{"key":"c58","doi-asserted-by":"publisher","DOI":"10.3390\/ijerph13050504"},{"key":"c59","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2006.03.023"},{"key":"c60","doi-asserted-by":"publisher","DOI":"10.1038\/nn.3870"},{"key":"c61","doi-asserted-by":"publisher","DOI":"10.1038\/mp.2013.114"},{"key":"c62","doi-asserted-by":"publisher","DOI":"10.13172\/2052-7810-1-2-610"},{"key":"c63","first-page":"601","volume":"9","author":"Lepage J.-F.","year":"2014","journal-title":"Social Neuroscience"},{"key":"c64","doi-asserted-by":"publisher","DOI":"10.3390\/ijms19051544"},{"key":"c65","doi-asserted-by":"publisher","DOI":"10.1002\/aur.1565"},{"key":"c66","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2014.09.034"},{"key":"c67","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2014.08.108"},{"key":"c68","doi-asserted-by":"publisher","DOI":"10.1046\/j.1601-183x.2003.00045.x"},{"key":"c69","doi-asserted-by":"publisher","DOI":"10.1016\/j.yebeh.2019.07.037"},{"key":"c70","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.2009.00523.x"},{"key":"c71","doi-asserted-by":"publisher","DOI":"10.1016\/j.stem.2011.09.008"},{"key":"c72","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2015.06.034"},{"key":"c73","doi-asserted-by":"publisher","DOI":"10.1002\/aur.132"},{"key":"c74","doi-asserted-by":"publisher","DOI":"10.1055\/a-0963-0230"},{"key":"c75","doi-asserted-by":"publisher","DOI":"10.1186\/s13229-017-0121-4"},{"key":"c76","doi-asserted-by":"publisher","DOI":"10.4161\/epi.1.4.3514"},{"key":"c77","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.genom.2.1.153"},{"key":"c78","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.06409-11"},{"key":"c79","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2017.05.016"},{"key":"c80","doi-asserted-by":"publisher","DOI":"10.1002\/aur.88"},{"key":"c81","doi-asserted-by":"crossref","first-page":"1414","DOI":"10.1111\/j.1471-4159.2010.06858.x","volume":"114","author":"Oblak A. L.","year":"2010","journal-title":"Journal of Neurochemistry"},{"key":"c82","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-019-12869-0"},{"key":"c83","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms6595"},{"key":"c84","doi-asserted-by":"publisher","DOI":"10.1126\/science.1227764"},{"key":"c85","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2013.10.031"},{"key":"c86","doi-asserted-by":"publisher","DOI":"10.1038\/nm.2576"},{"key":"c87","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2011.08.040"},{"key":"c88","doi-asserted-by":"publisher","DOI":"10.1017\/S0033291718002039"},{"key":"c89","doi-asserted-by":"publisher","DOI":"10.1186\/s40246-017-0109-3"},{"key":"c90","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.03.018"},{"key":"c91","doi-asserted-by":"publisher","DOI":"10.1038\/nature09146"},{"key":"c92","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4957"},{"key":"c93","first-page":"133","volume":"15","author":"Ronemus M.","year":"2014","journal-title":"Genetics"},{"key":"c94","doi-asserted-by":"publisher","DOI":"10.1038\/nature13772"},{"key":"c95","doi-asserted-by":"publisher","DOI":"10.1038\/nature10945"},{"key":"c96","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2014.4144"},{"key":"c97","doi-asserted-by":"publisher","DOI":"10.1038\/sj.mp.4001874"},{"key":"c98","doi-asserted-by":"publisher","DOI":"10.1111\/gbb.12423"},{"key":"c99","doi-asserted-by":"publisher","DOI":"10.1126\/science.1138659"},{"key":"c100","doi-asserted-by":"publisher","DOI":"10.1038\/nature12618"},{"key":"c101","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(12)62129-1"},{"key":"c102","doi-asserted-by":"publisher","DOI":"10.1038\/mp.2013.71"},{"key":"c103","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2004.09.011"},{"key":"c104","doi-asserted-by":"publisher","DOI":"10.1097\/00004583-200003000-00007"},{"key":"c105","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2014.05.035"},{"key":"c106","doi-asserted-by":"publisher","DOI":"10.1098\/rsob.180031"},{"key":"c107","volume":"111","author":"Sugathan A.","year":"2014","journal-title":"Proceedings of the National Academy of Sciences of the United States of America"},{"key":"c108","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2015.10078"},{"key":"c109","doi-asserted-by":"publisher","DOI":"10.1097\/DBP.0000000000000429"},{"key":"c110","doi-asserted-by":"publisher","DOI":"10.1186\/s13073-014-0075-5"},{"key":"c111","doi-asserted-by":"publisher","DOI":"10.1111\/jcpp.12499"},{"key":"c112","doi-asserted-by":"publisher","DOI":"10.1016\/j.tig.2010.05.007"},{"key":"c113","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2012.05.013"},{"key":"c114","first-page":"960","volume":"153","author":"van der Zwaag B.","year":"2009","journal-title":"American Journal of Medical Genetics Part B: Neuropsychiatric Genetics"},{"key":"c115","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2018.09.012"},{"key":"c116","doi-asserted-by":"publisher","DOI":"10.1038\/nature10110"},{"key":"c117","doi-asserted-by":"publisher","DOI":"10.1038\/mp.2010.26"},{"key":"c118","doi-asserted-by":"publisher","DOI":"10.1007\/s00702-014-1230-2"},{"key":"c119","doi-asserted-by":"publisher","DOI":"10.1038\/nature07999"},{"key":"c120","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2019.00258"},{"key":"c121","doi-asserted-by":"publisher","DOI":"10.1186\/s13229-017-0157-5"},{"key":"c122","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.13717"},{"key":"c123","doi-asserted-by":"publisher","DOI":"10.1001\/jamapsychiatry.2020.3049"},{"key":"c124","doi-asserted-by":"publisher","DOI":"10.1038\/nature10360"},{"key":"c125","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2012.11.002"},{"key":"c126","doi-asserted-by":"publisher","DOI":"10.1038\/nn.4524"},{"key":"c127","doi-asserted-by":"publisher","DOI":"10.1038\/nm.3792"},{"key":"c128","doi-asserted-by":"publisher","DOI":"10.1002\/aur.2152"},{"key":"c129","doi-asserted-by":"publisher","DOI":"10.1101\/gad.16750211"},{"key":"c130","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddt547"}],"container-title":["Zeitschrift f\u00fcr Kinder- und Jugendpsychiatrie und Psychotherapie"],"original-title":[],"language":"de","link":[{"URL":"https:\/\/econtent.hogrefe.com\/doi\/pdf\/10.1024\/1422-4917\/a000803","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,4]],"date-time":"2023-11-04T22:34:02Z","timestamp":1699137242000},"score":1,"resource":{"primary":{"URL":"https:\/\/econtent.hogrefe.com\/doi\/10.1024\/1422-4917\/a000803"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,5,1]]},"references-count":130,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2022,5,1]]}},"alternative-id":["10.1024\/1422-4917\/a000803"],"URL":"https:\/\/doi.org\/10.1024\/1422-4917\/a000803","relation":{},"ISSN":["1422-4917","1664-2880"],"issn-type":[{"value":"1422-4917","type":"print"},{"value":"1664-2880","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,5,1]]}}}