{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,30]],"date-time":"2026-10-30T22:26:05Z","timestamp":1793399165016,"version":"4.5.0"},"reference-count":52,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2026,7,6]],"date-time":"2026-07-06T00:00:00Z","timestamp":1783296000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2026,7,6]],"date-time":"2026-07-06T00:00:00Z","timestamp":1783296000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"abstract":"<jats:p>\n                    Autism spectrum disorder (autism) is diagnosed by persistent deficits in communication and social interaction, along with restricted, repetitive behaviors or interests. About a third of children with autism appear to develop normally but subsequently regress and eventually present with autism. This condition is termed\n                    <jats:italic toggle=\"yes\">regressive autism<\/jats:italic>\n                    and the associated regression termed\n                    <jats:italic toggle=\"yes\">autistic regression<\/jats:italic>\n                    . Children undergoing autistic regression after 2 years are described as having\n                    <jats:italic toggle=\"yes\">childhood disintegrative disorder<\/jats:italic>\n                    . We aimed to conduct a scoping review to identify and summarize the genetic etiologies and correlates of regressive autism and childhood disintegrative disorder. Using key words, we searched 4 databases for papers published from January 2010 to February 2024. Thirty-two papers were retained. Nearly 90 genetic variants were associated with these conditions, and some treatments improved proband functioning. Epigenetic involvement, immune dysfunction and toxicant exposures were related to autistic regression while recurring comorbidities were inflammatory bowel disease, fever and mitochondrial disease. Regressive autism is variably defined, impeding research. The development of a precise definition is needed. Furthermore, regressive autism and its subtype, childhood disintegrative disorder, have many causes, which means that developing biomarkers and endotypes to explore etiologies would likely pay dividends. Because of the increasing prevalence of autism, regressive autism is no longer a rare condition, emphasizing the grave need to promote research in this area. Expected benefits might be improved outcomes for those affected and genetic counselling for at-risk family members. Longer-term benefits might be reduced prevalence, less emotional and financial burdens for families, and lower fiscal burdens for governments.\n                  <\/jats:p>","DOI":"10.1177\/08830738261452774","type":"journal-article","created":{"date-parts":[[2026,7,6]],"date-time":"2026-07-06T10:57:27Z","timestamp":1783335447000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":1,"title":["Genetic Etiologies and Risk Factors for Regressive Autism and Childhood Disintegrative Disorder: A Scoping Review"],"prefix":"10.1177","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9884-0117","authenticated-orcid":false,"given":"Jennifer","family":"Fairthorne","sequence":"first","affiliation":[{"name":"Queensland University of Technology"},{"name":"Department of Paediatrics, Monash University, Melbourne, Victoria, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-9276-0076","authenticated-orcid":false,"given":"Fiona","family":"Rae","sequence":"additional","affiliation":[{"name":"Queensland University of Technology"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abha","family":"Gupta","sequence":"additional","affiliation":[{"name":"Yale School of Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6645-6164","authenticated-orcid":false,"given":"Joanne","family":"Voisey","sequence":"additional","affiliation":[{"name":"Queensland University of Technology"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2026,7,6]]},"reference":[{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.1176\/appi.books.9780890425596"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.1515\/revneuro-2024-0106"},{"key":"e_1_3_2_4_2","article-title":"Prevalence and early identification of autism spectrum disorder among children aged 4 and 8 years\u2014Autism and Developmental Disabilities Monitoring Network, 16 sites, United States, 2022","volume":"74","author":"Shaw KA","year":"2025","unstructured":"Shaw KA. 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