{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T13:28:44Z","timestamp":1791293324567,"version":"4.1.0"},"reference-count":36,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2017,5,18]],"date-time":"2017-05-18T00:00:00Z","timestamp":1495065600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100010003","name":"Robert W. Woodruff Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010003","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Simons Junior Investigator Award"},{"DOI":"10.13039\/100009670","name":"National Alliance for Research on Schizophrenia and Depression","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100009670","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>22q11.2 deletion syndrome (22q11.2DS) is a genomic disorder reported to associate with autism spectrum disorders (ASDs) in 15\u201350% of cases; however, others suggest that individuals with 22q11.2DS present psychiatric or behavioral features associated with ASDs, but do not meet full criteria for ASD diagnoses. Such wide variability in findings may arise in part due to methodological differences across studies. Our study sought to determine whether individuals with 22q11.2DS meet strict ASD diagnostic criteria using research-based guidelines from the Collaborative Programs of Excellence in Autism (CPEA), which required a gathering of information from three sources: the Autism Diagnostic Interview-Revised (ADI-R), the Autism Diagnostic Observational Schedule (ADOS), and a clinician\u2019s best-estimate diagnosis. Our study examined a cohort of children, adolescents, and young adults (n = 56) with 22q11.2DS, who were ascertained irrespective of parents\u2019 behavioral or developmental concerns, and found that 17.9% (n = 10) of the participants met CPEA criteria for an ASD diagnosis, and that a majority showed some level of social-communication impairment or the presence of repetitive behaviors. We conclude that strictly defined ASDs occur in a substantial proportion of individuals with 22q11.2DS, and recommend that all individuals with 22q11.2DS be screened for ASDs during early childhood.<\/jats:p>","DOI":"10.3390\/ijms18051071","type":"journal-article","created":{"date-parts":[[2017,5,23]],"date-time":"2017-05-23T01:47:33Z","timestamp":1495504053000},"page":"1071","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":46,"title":["Examining the Overlap between Autism Spectrum Disorder and 22q11.2 Deletion Syndrome"],"prefix":"10.3390","volume":"18","author":[{"given":"Opal","family":"Ousley","sequence":"first","affiliation":[{"name":"Emory Autism Center, Department of Psychiatry and Behavioral Sciences, Emory University School of Medicine, 1551 Shoup Court, Atlanta, GA 30322, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Evans","sequence":"additional","affiliation":[{"name":"Marcus Autism Center, Children\u2019s Healthcare of Atlanta, 1920 Briarcliff Road, Atlanta, GA 30329, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samuel","family":"Fernandez-Carriba","sequence":"additional","affiliation":[{"name":"Marcus Autism Center, Children\u2019s Healthcare of Atlanta, 1920 Briarcliff Road, Atlanta, GA 30329, USA"},{"name":"Marcus Autism Center, Department of Pediatrics, Emory University School of Medicine, 1920 Briarcliff Road, Atlanta, GA 30329, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erica","family":"Smearman","sequence":"additional","affiliation":[{"name":"Department of Psychology, Emory University, Psychology and Interdisciplinary Studies (PAIS) Building, 36 Eagle Row, Atlanta, GA 30322, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kimberly","family":"Rockers","sequence":"additional","affiliation":[{"name":"Emory Autism Center, Department of Psychiatry and Behavioral Sciences, Emory University School of Medicine, 1551 Shoup Court, Atlanta, GA 30322, USA"},{"name":"Department of Human Genetics, Emory University School of Medicine, 615 Michael Street, Whitehead Biomedical Research Building, Suite 301, Atlanta, GA 30322, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Morrier","sequence":"additional","affiliation":[{"name":"Emory Autism Center, Department of Psychiatry and Behavioral Sciences, Emory University School of Medicine, 1551 Shoup Court, Atlanta, GA 30322, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Evans","sequence":"additional","affiliation":[{"name":"Department of Psychology, Bucknell University, 1 Dent Drive, Lewisburg, PA 17837, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karlene","family":"Coleman","sequence":"additional","affiliation":[{"name":"Marcus Autism Center, Children\u2019s Healthcare of Atlanta, 1920 Briarcliff Road, Atlanta, GA 30329, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph","family":"Cubells","sequence":"additional","affiliation":[{"name":"Emory Autism Center, Department of Psychiatry and Behavioral Sciences, Emory University School of Medicine, 1551 Shoup Court, Atlanta, GA 30322, USA"},{"name":"Department of Human Genetics, Emory University School of Medicine, 615 Michael Street, Whitehead Biomedical Research Building, Suite 301, Atlanta, GA 30322, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2017,5,18]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"S151","DOI":"10.33588\/rn.40S01.2005073","article-title":"Syndromic autism: II. Genetic syndromes associated with autism","volume":"40","year":"2005","journal-title":"Rev. Neurol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"332","DOI":"10.1016\/j.jpeds.2011.02.039","article-title":"Practical guidelines for managing patients with 22q11.2 deletion syndrome","volume":"159","author":"Bassett","year":"2011","journal-title":"J. Pediatr."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1542\/peds.112.1.101","article-title":"A population-based study of the 22q11.2 deletion: Phenotype, incidence, and contribution to major birth defects in the population","volume":"112","author":"Botto","year":"2003","journal-title":"Pediatrics"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1136\/adc.2003.026880","article-title":"Incidence and prevalence of the 22q11 deletion syndrome: A population-based study in Western Sweden","volume":"89","author":"Oskarsdottir","year":"2004","journal-title":"Arch. Dis. Child."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"719","DOI":"10.1136\/jmg.33.8.719","article-title":"Prevalence of 22q11 microdeletion","volume":"33","author":"Mendizabai","year":"1996","journal-title":"J. Med. Genet."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1080\/19315860902756136","article-title":"Velo-Cardio-Facial Syndrome","volume":"2","author":"Gothelf","year":"2009","journal-title":"J. Ment. Health Res. Intellect. Disabil."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1007\/s11920-007-0085-8","article-title":"A review of neurocognitive and behavioral profiles associated with 22q11 deletion syndrome: Implications for clinical evaluation and treatment","volume":"9","author":"Ousley","year":"2007","journal-title":"Curr. Psychiatry Rep."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1007\/s10803-005-5036-9","article-title":"Autism spectrum disorders and symptoms in children with molecularly confirmed 22q11.2 deletion syndrome","volume":"35","author":"Fine","year":"2005","journal-title":"J. Autism Dev. Disord."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"1104","DOI":"10.1097\/01.chi.0000228131.56956.c1","article-title":"The 22q11.2 deletion in children: High rate of autistic disorders and early onset of psychotic symptoms","volume":"45","author":"Vorstman","year":"2006","journal-title":"J. Am. Acad. Child Adolesc. Psychiatry"},{"key":"ref_10","doi-asserted-by":"crossref","unstructured":"Bruining, H., de Sonneville, L., Swaab, H., de Jonge, M., Kas, M., van Engeland, H., and Vorstman, J. (2010). Dissecting the clinical heterogeneity of autism spectrum disorders through defined genotypes. PLoS ONE, 5.","DOI":"10.1371\/journal.pone.0010887"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"1776","DOI":"10.1007\/s10803-006-0308-6","article-title":"Autistic spectrum disorders in velo-cardio facial syndrome (22q11.2 deletion)","volume":"37","author":"Antshel","year":"2007","journal-title":"J. Autism Dev. Disord."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"1005","DOI":"10.1016\/j.jpsychires.2010.06.013","article-title":"Clinically detectable copy number variations in a Canadian catchment population of schizophrenia","volume":"44","author":"Bassett","year":"2010","journal-title":"J. Psychiatr. Res."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1176\/appi.ajp.2010.10060876","article-title":"Copy number variants in schizophrenia: Confirmation of five previous findings and new evidence for 3q29 microdeletions and VIPR2 duplications","volume":"168","author":"Levinson","year":"2011","journal-title":"Am. J. Psychiatry"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1038\/nrn2841","article-title":"22q11.2 microdeletions: Linking DNA structural variation to brain dysfunction and schizophrenia","volume":"11","author":"Karayiorgou","year":"2010","journal-title":"Nat. Rev. Neurosci."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1002\/(SICI)1096-8628(20000207)96:1<15::AID-AJMG5>3.0.CO;2-M","article-title":"Chromosome 22q11 deletions are not found in autistic patients identified using strict diagnostic criteria","volume":"96","author":"Ogilvie","year":"2000","journal-title":"Am. J. Med. Genet."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1002\/ajmg.1320340211","article-title":"Autism is not associated with the fragile X syndrome","volume":"34","author":"Einfeld","year":"1989","journal-title":"Am. J. Med. Genet."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1002\/ajmg.1320430107","article-title":"Is autism associated with the fragile X syndrome?","volume":"43","author":"Fisch","year":"1992","journal-title":"Am. J. Med. Genet."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"921","DOI":"10.1016\/j.jaac.2010.07.001","article-title":"Autism in fragile X syndrome: A category mistake?","volume":"49","author":"Hall","year":"2010","journal-title":"J. Am. Acad. Child Adolesc. Psychiatry"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"803","DOI":"10.1111\/j.1365-2788.2012.01609.x","article-title":"Early identification of autism in fragile X syndrome: A review","volume":"57","author":"McCary","year":"2012","journal-title":"J. Intellect. Disabil. Res."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1097\/GIM.0b013e31815efdd7","article-title":"Genetics evaluation for the etiologic diagnosis of autism spectrum disorders","volume":"10","author":"Schaefer","year":"2008","journal-title":"Genet. Med."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1016\/j.eurpsy.2013.06.002","article-title":"Axis I psychiatric diagnoses in adolescents and young adults with 22q11 deletion syndrome","volume":"28","author":"Ousley","year":"2013","journal-title":"Eur. Psychiatry"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"659","DOI":"10.1007\/BF02172145","article-title":"Autism diagnostic interview-revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders","volume":"24","author":"Lord","year":"1994","journal-title":"J. Autism Dev. Disord."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1007\/s10803-006-0280-1","article-title":"The autism diagnostic observation schedule: Revised algorithms for improved diagnostic validity","volume":"7","author":"Gotham","year":"2007","journal-title":"J. Autism Dev. Disord."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"1094","DOI":"10.1097\/01.chi.0000227880.42780.0e","article-title":"Combining information from multiple sources in the diagnosis of autism spectrum disorders","volume":"45","author":"Risi","year":"2006","journal-title":"J. Am. Acad. Child Adolesc. Psychiatry"},{"key":"ref_25","unstructured":"American Psychiatric Association (1994). DSM-IV: Diagnostic and Statistical Manual, American Psychiatric Association."},{"key":"ref_26","first-page":"422","article-title":"Research on behavioral phenotypes: Velocardiofacial syndrome (deletion 22q11.2)","volume":"42","author":"Wang","year":"2000","journal-title":"Dev. Med. Child Neurol."},{"key":"ref_27","doi-asserted-by":"crossref","unstructured":"Cuthbert, B.N., and Insel, T.R. (2013). Toward the future of psychiatric diagnosis: The seven pillars of RDoC. BMC Med., 11.","DOI":"10.1186\/1741-7015-11-126"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1001\/archpsyc.60.5.524","article-title":"Autistic traits in the general population: A twin study","volume":"60","author":"Constantino","year":"2003","journal-title":"Arch. Gen. Psychiatry"},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1016\/j.jaac.2016.10.014","article-title":"Development of two dimensional measures of restricted and repetitive behaviors in parents and children","volume":"56","author":"Evans","year":"2017","journal-title":"J. Am. Acad. Child Adolesc. Psychiatry"},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"406","DOI":"10.1016\/S1474-4422(13)70011-5","article-title":"Developmental brain dysfunction (DBD): Revival and expansion of an old concept based on new genetic evidence","volume":"12","author":"Myers","year":"2013","journal-title":"Lancet Neurol."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1001\/jamapsychiatry.2014.2147","article-title":"Parental cognitive, behavioral and motor profiles impact the neurodevelopmental profile of individuals with de novo mutations","volume":"72","author":"Evans","year":"2015","journal-title":"JAMA Psychiatry"},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1016\/j.biopsych.2013.07.019","article-title":"The 22q11.2 deletion syndrome as a window into complex neuropsychiatric disorders over the lifespan","volume":"75","author":"Jonas","year":"2014","journal-title":"Biol. Psychiatry"},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1016\/j.pneurobio.2012.07.005","article-title":"Copy number variations in neurodevelopmental disorders","volume":"99","author":"Grayton","year":"2012","journal-title":"Prog. Neurobiol."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1016\/j.tips.2010.05.004","article-title":"Signaling pathways in schizophrenia: Emerging targets and therapeutic strategies","volume":"31","author":"Karam","year":"2010","journal-title":"Trends Pharmacol. Sci."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"665","DOI":"10.1111\/j.1365-2788.2009.01178.x","article-title":"Performance on the modified card sorting test and its relation to psychopathology in adolescents and young adults with 22q11.2 deletion syndrome","volume":"53","author":"Rockers","year":"2009","journal-title":"J. Intellect. Disabil. Res."},{"key":"ref_36","doi-asserted-by":"crossref","unstructured":"Lord, C, Rutter, M., DiLavore, P., and Risi, S. (1999). Autism Diagnostic Observation Schedule Manual, Western Psychological Services.","DOI":"10.1037\/t17256-000"}],"container-title":["International Journal of Molecular Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1422-0067\/18\/5\/1071\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T18:36:11Z","timestamp":1760207771000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1422-0067\/18\/5\/1071"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,5,18]]},"references-count":36,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2017,5]]}},"alternative-id":["ijms18051071"],"URL":"https:\/\/doi.org\/10.3390\/ijms18051071","relation":{},"ISSN":["1422-0067"],"issn-type":[{"value":"1422-0067","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,5,18]]}}}