{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,7]],"date-time":"2026-04-07T21:45:37Z","timestamp":1775598337688,"version":"3.50.1"},"reference-count":109,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2021,8,23]],"date-time":"2021-08-23T00:00:00Z","timestamp":1629676800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100014555","name":"Murdoch Children's Research Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100014555","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["acamh.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Child Psychology Psychiatry"],"published-print":{"date-parts":[[2021,11]]},"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Research on monogenic forms of autism spectrum disorder (autism) can inform our understanding of genetic contributions to the autism phenotype; yet, there is much to be learned about the pathways from gene to brain structure to behavior. This systematic review summarizes and evaluates research on brain magnetic resonance imaging (MRI) findings in monogenic conditions that have strong association with autism. This will improve understanding of the impact of genetic variability on brain structure and related behavioral traits in autism.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>The search strategy for this systematic review followed the Preferred Reporting Items for Systematic Reviews and Meta\u2010Analyses guidelines. Risk of bias (ROB) assessment was completed on included studies using the Newcastle\u2010Ottawa Scales.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Of 4,287 studies screened, 69 were included pertaining to 13 of the top 20 genes with the strongest association with autism. The greatest number of studies related to individuals with\n                      <jats:italic>PTEN<\/jats:italic>\n                      variants and autism. Brain MRI abnormalities were reported for 12 of the 13 genes studied, and in 51.7% of participants across all 13 genes, including 100% of participants with\n                      <jats:italic>ARID1B<\/jats:italic>\n                      variants. Specific MRI findings were highly variable, with no clear patterns emerging within or between the 13 genes, although white matter abnormalities were the most common. Few studies reported specific details about methods for acquisition and processing of brain MRI, and descriptors for brain abnormalities were variable. ROB assessment indicated high ROB for all studies, largely due to small sample sizes and lack of comparison groups.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Brain abnormalities are common in this population of individuals, in particular, children; however, a range of different brain abnormalities were reported within and between genes. Directions for future neuroimaging research in monogenic autism are suggested.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/jcpp.13510","type":"journal-article","created":{"date-parts":[[2021,8,24]],"date-time":"2021-08-24T02:46:29Z","timestamp":1629773189000},"page":"1339-1352","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["A systematic review of brain MRI findings in monogenic disorders strongly associated with autism spectrum disorder"],"prefix":"10.1111","volume":"62","author":[{"given":"Veronica","family":"Frewer","sequence":"first","affiliation":[{"name":"Murdoch Children's Research Institute Parkville Vic. Australia"},{"name":"Department of Paediatrics The University of Melbourne Parkville Vic. Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2677-674X","authenticated-orcid":false,"given":"Courtney P.","family":"Gilchrist","sequence":"additional","affiliation":[{"name":"Murdoch Children's Research Institute Parkville Vic. Australia"},{"name":"Neurodevelopment in Health and Disease RMIT University Bundoora Vic. Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Simonne E.","family":"Collins","sequence":"additional","affiliation":[{"name":"Murdoch Children's Research Institute Parkville Vic. Australia"},{"name":"School of Psychological Sciences Turner Institute for Brain &amp; Mental Health Monash University Melbourne Vic. Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katrina","family":"Williams","sequence":"additional","affiliation":[{"name":"Monash University Melbourne Vic. Australia"},{"name":"Monash Children's Hospital Melbourne Vic. Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marc L.","family":"Seal","sequence":"additional","affiliation":[{"name":"Murdoch Children's Research Institute Parkville Vic. Australia"},{"name":"Department of Paediatrics The University of Melbourne Parkville Vic. Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard J.","family":"Leventer","sequence":"additional","affiliation":[{"name":"Murdoch Children's Research Institute Parkville Vic. Australia"},{"name":"Department of Paediatrics The University of Melbourne Parkville Vic. Australia"},{"name":"Royal Children's Hospital Parkville Vic. Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David J.","family":"Amor","sequence":"additional","affiliation":[{"name":"Murdoch Children's Research Institute Parkville Vic. Australia"},{"name":"Department of Paediatrics The University of Melbourne Parkville Vic. Australia"},{"name":"Royal Children's Hospital Parkville Vic. Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,8,23]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.15190\/d.2020.4"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tins.2007.12.005"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.3389\/fpsyt.2012.00046"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1176\/appi.books.9780890425596"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61380"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.32610"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37405"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.3389\/fnana.2016.00030"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/7854_2016_438"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22248"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.3174\/ajnr.A3680"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0004415"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.crvi.2016.05.004"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms20122914"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.024646"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.30493"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2011.10.004"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1097\/YPG.0000000000000151"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2010.03.006"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2010.06.004"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1186\/1866-1955-6-9"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2018.12.001"},{"key":"e_1_2_9_24_1","first-page":"203","article-title":"High angular resolution diffusion imaging in a child with autism spectrum disorder and comparison with his unaffected identical twin","volume":"30","author":"Conti E.","year":"2015","journal-title":"Functional Neurology"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073811420296"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.brainres.2010.09.101"},{"key":"e_1_2_9_27_1","volume-title":"Covidence systematic review software","author":"Covidence","year":"2019"},{"key":"e_1_2_9_28_1","first-page":"1818","article-title":"Incidental Brain MRI Findings in Children: A Systematic Review and Meta\u2010Analysis","volume":"40","author":"Dangouloff\u2010Ros V.","year":"2019","journal-title":"AJNR Am J Neuroradiol"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-013-7127-4"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1097\/YPG.0000000000000225"},{"key":"e_1_2_9_31_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38255"},{"key":"e_1_2_9_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pnpbp.2017.02.026"},{"key":"e_1_2_9_33_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61206"},{"key":"e_1_2_9_34_1","doi-asserted-by":"publisher","DOI":"10.1038\/mp.2014.125"},{"key":"e_1_2_9_35_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2015.13"},{"key":"e_1_2_9_36_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroimage.2018.04.032"},{"key":"e_1_2_9_37_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nic.2019.09.009"},{"key":"e_1_2_9_38_1","doi-asserted-by":"publisher","DOI":"10.3389\/fendo.2017.00107"},{"key":"e_1_2_9_39_1","doi-asserted-by":"publisher","DOI":"10.3389\/fnins.2017.00533"},{"key":"e_1_2_9_40_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073819842970"},{"key":"e_1_2_9_41_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2011.01755.x"},{"key":"e_1_2_9_42_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.biopsych.2010.11.015"},{"key":"e_1_2_9_43_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2016-104484"},{"key":"e_1_2_9_44_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2899"},{"key":"e_1_2_9_45_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31619"},{"key":"e_1_2_9_46_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2015.11.008"},{"key":"e_1_2_9_47_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jphs.2016.10.002"},{"key":"e_1_2_9_48_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.spen.2018.04.001"},{"key":"e_1_2_9_49_1","first-page":"530","article-title":"Phenotypic characterization of individuals with SYNGAP1 pathogenic variants reveals a potential correlation between posterior dominant rhythm and developmental progression","volume":"34","author":"Jimenez\u2010Gomez A.","year":"2019","journal-title":"Journal of Child Neurology"},{"key":"e_1_2_9_50_1","doi-asserted-by":"publisher","DOI":"10.1159\/000485638"},{"key":"e_1_2_9_51_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2018.04.008"},{"key":"e_1_2_9_52_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroimage.2020.117068"},{"key":"e_1_2_9_53_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13229-017-0168-2"},{"key":"e_1_2_9_54_1","doi-asserted-by":"publisher","DOI":"10.1111\/cga.12273"},{"key":"e_1_2_9_55_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.11.024"},{"key":"e_1_2_9_56_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.brainres.2010.11.005"},{"key":"e_1_2_9_57_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00702-004-0198-8"},{"key":"e_1_2_9_58_1","doi-asserted-by":"publisher","DOI":"10.1001\/archgenpsychiatry.2010.148"},{"key":"e_1_2_9_59_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tins.2013.11.005"},{"key":"e_1_2_9_60_1","doi-asserted-by":"publisher","DOI":"10.1097\/YCO.0000000000000130"},{"key":"e_1_2_9_61_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2016.05.020"},{"key":"e_1_2_9_62_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12264-017-0118-1"},{"key":"e_1_2_9_63_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2013.03.141"},{"key":"e_1_2_9_64_1","doi-asserted-by":"publisher","DOI":"10.1002\/aur.132"},{"key":"e_1_2_9_65_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2018-1741"},{"key":"e_1_2_9_66_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmjebm-2017-110853"},{"key":"e_1_2_9_67_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12492"},{"key":"e_1_2_9_68_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1227764"},{"key":"e_1_2_9_69_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0b013e328351639d"},{"key":"e_1_2_9_70_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2008.01074.x"},{"key":"e_1_2_9_71_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61605"},{"key":"e_1_2_9_72_1","doi-asserted-by":"publisher","DOI":"10.1080\/15513815.2018.1497113"},{"key":"e_1_2_9_73_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2014-102444"},{"key":"e_1_2_9_74_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-018-0266-3"},{"key":"e_1_2_9_75_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-019-13005-8"},{"key":"e_1_2_9_76_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36741"},{"key":"e_1_2_9_77_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.siny.2020.101113"},{"key":"e_1_2_9_78_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2014.12.014"},{"key":"e_1_2_9_79_1","doi-asserted-by":"publisher","DOI":"10.3389\/fncel.2019.00385"},{"key":"e_1_2_9_80_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13760-019-01122-6"},{"key":"e_1_2_9_81_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31414"},{"key":"e_1_2_9_82_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2019.12.036"},{"key":"e_1_2_9_83_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ebr.2019.100355"},{"key":"e_1_2_9_84_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-019-00599-w"},{"key":"e_1_2_9_85_1","doi-asserted-by":"publisher","DOI":"10.1186\/2040-2392-4-18"},{"key":"e_1_2_9_86_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.24251"},{"key":"e_1_2_9_87_1","doi-asserted-by":"publisher","DOI":"10.1590\/S0004-282X2003000200003"},{"key":"e_1_2_9_88_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.09.017"},{"key":"e_1_2_9_89_1","doi-asserted-by":"publisher","DOI":"10.1038\/nn.4420"},{"key":"e_1_2_9_90_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41525-017-0035-2"},{"key":"e_1_2_9_91_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-15-35"},{"key":"e_1_2_9_92_1","first-page":"S205","article-title":"Characteristic brain magnetic resonance imaging pattern in pten associated disorders","volume":"16","author":"Tonduti D.","year":"2012","journal-title":"Annals of Neurology"},{"key":"e_1_2_9_93_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2018.06.014"},{"key":"e_1_2_9_94_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36309"},{"key":"e_1_2_9_95_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e31818fd762"},{"key":"e_1_2_9_96_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg.2017.4"},{"key":"e_1_2_9_97_1","doi-asserted-by":"publisher","DOI":"10.1186\/s11689-016-9138-9"},{"key":"e_1_2_9_98_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12887-018-1307-4"},{"key":"e_1_2_9_99_1","unstructured":"Wells G.A. Shea B. O'Connell D. Peterson J. Welch V. Losos M.&Tugwell P.(2019).The Newcastle\u2010Ottawa Scale (NOS) for assessing the quality of nonrandomised studies in meta\u2010analyses. Available:http:\/\/www.ohri.ca\/programs\/clinical_epidemiology\/oxford.asp"},{"key":"e_1_2_9_100_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13073-015-0253-0"},{"key":"e_1_2_9_101_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2009.192"},{"issue":"1","key":"e_1_2_9_102_1","first-page":"67","article-title":"SCN2A c. 2909G>Ap.(Gly970Glu)\u2010A previously undescribed variant associated with initially intractable seizures and autistic spectrum disorder","volume":"61","author":"Williams A.N.","year":"2019","journal-title":"Developmental Medicine and Child Neurology"},{"key":"e_1_2_9_103_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13229-016-0076-x"},{"key":"e_1_2_9_104_1","doi-asserted-by":"publisher","DOI":"10.1101\/mcs.a000455"},{"key":"e_1_2_9_105_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13229-017-0182-4"},{"key":"e_1_2_9_106_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13052-020-00847-y"},{"key":"e_1_2_9_107_1","doi-asserted-by":"publisher","DOI":"10.5607\/en.2015.24.4.257"},{"key":"e_1_2_9_108_1","first-page":"329","article-title":"Infantile macrocephaly and multiple subcutaneous lipomas diagnosed with pten hamartoma tumor syndrome: A case report","volume":"12","author":"Yotsumoto Y.","year":"2020","journal-title":"Molecular and Clinical Oncology"},{"key":"e_1_2_9_109_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.900"},{"key":"e_1_2_9_110_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38622"}],"container-title":["Journal of Child Psychology and Psychiatry"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jcpp.13510","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/jcpp.13510","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/acamh.onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jcpp.13510","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,11,3]],"date-time":"2025-11-03T19:47:52Z","timestamp":1762199272000},"score":1,"resource":{"primary":{"URL":"https:\/\/acamh.onlinelibrary.wiley.com\/doi\/10.1111\/jcpp.13510"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,8,23]]},"references-count":109,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2021,11]]}},"alternative-id":["10.1111\/jcpp.13510"],"URL":"https:\/\/doi.org\/10.1111\/jcpp.13510","archive":["Portico"],"relation":{},"ISSN":["0021-9630","1469-7610"],"issn-type":[{"value":"0021-9630","type":"print"},{"value":"1469-7610","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,8,23]]},"assertion":[{"value":"2021-07-06","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-08-23","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}