{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T22:01:11Z","timestamp":1792188071935,"version":"4.4.0"},"reference-count":110,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2015,5,18]],"date-time":"2015-05-18T00:00:00Z","timestamp":1431907200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt C"],"published-print":{"date-parts":[[2015,6]]},"abstract":"<jats:sec>\n                    <jats:label\/>\n                    <jats:p>Chromosome 22q11.2 deletion syndrome (22q11.2DS), a neurogenetic condition, is the most common microdeletion syndrome affecting 1 in 2,000\u20134,000 live births and involving haploinsufficiency of \u223c50 genes resulting in a multisystem disorder. Phenotypic expression is highly variable and ranges from severe life\u2010threatening conditions to only a few associated features. Most common medical problems include: congenital heart disease, in particular conotruncal anomalies; palatal abnormalities, most frequently velopharyngeal incompetence (VPI); immunodeficiency; hypocalcemia due to hypoparathyroidism; genitourinary anomalies; severe feeding\/gastrointestinal differences; and subtle dysmorphic facial features. The neurocognitive profile is also highly variable, both between individuals and during the course of development. From infancy onward, motor delays (often with hypotonia) and speech\/language deficits are commonly observed. During the preschool and primary school ages, learning difficulties are very common. The majority of patients with 22q11.2DS have an intellectual level that falls in the borderline range (IQ 70\u201384), and about one\u2010third have mild to moderate intellectual disability. More severe levels of intellectual disability are uncommon in children and adolescents but are more frequent in adults. Individuals with 22q11.2DS are at an increased risk for developing several psychiatric disorders including attention deficit with hyperactivity disorder (ADHD), autism spectrum disorder (ASD), anxiety and mood disorders, and psychotic disorders and schizophrenia. In this review, we will focus on the developmental phenotypic transitions regarding cognitive development in 22q11.2DS from early preschool to adulthood, and on the changing behavioral\/psychiatric phenotype across age, on a background of frequently complex medical conditions. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ajmg.c.31435","type":"journal-article","created":{"date-parts":[[2015,5,18]],"date-time":"2015-05-18T09:05:08Z","timestamp":1431939908000},"page":"172-181","source":"Crossref","is-referenced-by-count":173,"title":["Developmental trajectories in 22q11.2 deletion syndrome"],"prefix":"10.1002","volume":"169","author":[{"given":"Ann","family":"Swillen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donna","family":"McDonald\u2010McGinn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,5,18]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.chi.0000205703.25453.5a"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10803-006-0308-6"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2788.2010.01337.x"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1192\/bjp.186.2.115"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/WCO.0b013e328352dd58"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.biopsych.2006.07.038"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1176\/appi.ajp.160.9.1580"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.063800"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2011.02.039"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1176\/appi.ajp.161.9.1700"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2214.2008.00850.x"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0010887"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.4.763"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.30.10.822"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1017\/CBO9780511544101.009"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jfma.2012.10.020"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1080\/15513819609169308"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1176\/appi.ajp.2013.13070880"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.schres.2006.01.019"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1111\/1469-7610.00235"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.CHI.0000046892.27264.1A"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00278938"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-7610.2006.01712.x"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00202489"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2788.2007.00955.x"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.35.9.789-a"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(65)81796-6"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320550427"},{"key":"e_1_2_6_30_1","first-page":"924","article-title":"A genetic etiology for DiGeorge syndrome: Consistent deletions and microdeletions of 22q11","volume":"50","author":"Driscoll DA","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.30.10.813"},{"key":"e_1_2_6_32_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320440237"},{"key":"e_1_2_6_33_1","doi-asserted-by":"publisher","DOI":"10.1192\/bjp.bp.111.097139"},{"key":"e_1_2_6_34_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ridd.2013.06.001"},{"key":"e_1_2_6_35_1","doi-asserted-by":"publisher","DOI":"10.1111\/1469-7610.00626"},{"key":"e_1_2_6_36_1","doi-asserted-by":"publisher","DOI":"10.1086\/302343"},{"key":"e_1_2_6_37_1","doi-asserted-by":"crossref","first-page":"670","DOI":"10.1542\/peds.73.5.670","article-title":"Further delineation of the 10p deletion syndrome","volume":"73","author":"Elstner CL","year":"1984","journal-title":"Pediatrics"},{"key":"e_1_2_6_38_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2788.2003.00464.x"},{"key":"e_1_2_6_39_1","doi-asserted-by":"publisher","DOI":"10.1017\/S1461145714000376"},{"key":"e_1_2_6_40_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-3223(01)01231-8"},{"key":"e_1_2_6_41_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10803-005-5036-9"},{"key":"e_1_2_6_42_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960329)62:3<274::AID-AJMG13>3.0.CO;2-H"},{"key":"e_1_2_6_43_1","first-page":"A80","article-title":"DiGeorge syndrome with del(4)(q21. 3q25): Possibility of the fourth chromosome region responsible for DiGeorge syndrome","volume":"51","author":"Fukushima Y","year":"1992","journal-title":"(Abstract) Am J Hum Genet"},{"key":"e_1_2_6_44_1","doi-asserted-by":"publisher","DOI":"10.1176\/appi.ajp.2010.09101463"},{"key":"e_1_2_6_45_1","first-page":"807","article-title":"Cayler Cardiofacial syndrome and del 22q11: Part of CATCH22 phenotype","volume":"30","author":"Giannotti A","year":"1994","journal-title":"Am J Med Genet"},{"key":"e_1_2_6_46_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.32.9.746"},{"key":"e_1_2_6_47_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.79.4.348"},{"key":"e_1_2_6_48_1","doi-asserted-by":"publisher","DOI":"10.1086\/301718"},{"key":"e_1_2_6_49_1","doi-asserted-by":"publisher","DOI":"10.1038\/nn1572"},{"key":"e_1_2_6_50_1","doi-asserted-by":"publisher","DOI":"10.1080\/19315860902756136"},{"key":"e_1_2_6_51_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1469-7580.2001.19910133.x"},{"key":"e_1_2_6_52_1","doi-asserted-by":"publisher","DOI":"10.1097\/CHI.0b013e3181b76683"},{"key":"e_1_2_6_53_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00291554"},{"key":"e_1_2_6_54_1","first-page":"605","article-title":"Cytogenetic findings in a prospective series of patients with DiGeorge anomaly","volume":"43","author":"Greenberg F","year":"1988","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_55_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30090"},{"key":"e_1_2_6_56_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-013-2240-z"},{"key":"e_1_2_6_57_1","doi-asserted-by":"publisher","DOI":"10.1186\/1755-8166-1-18"},{"key":"e_1_2_6_58_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1054-139X(02)00336-1"},{"key":"e_1_2_6_59_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0028-3932(01)00136-1"},{"key":"e_1_2_6_60_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31623"},{"key":"e_1_2_6_61_1","doi-asserted-by":"publisher","DOI":"10.1038\/85845"},{"key":"e_1_2_6_62_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.biopsych.2013.07.019"},{"key":"e_1_2_6_63_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jad.2009.02.016"},{"key":"e_1_2_6_64_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2008-3400"},{"key":"e_1_2_6_65_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32012"},{"key":"e_1_2_6_66_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(82)80116-9"},{"key":"e_1_2_6_67_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960329)62:3<318::AID-AJMG21>3.0.CO;2-M"},{"key":"e_1_2_6_68_1","first-page":"412","article-title":"Congenital absence of the thyroid gland","volume":"67","author":"Lobdell DH","year":"1959","journal-title":"Arch Pathol"},{"key":"e_1_2_6_69_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320530314"},{"key":"e_1_2_6_70_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-7610.2004.00250.x"},{"key":"e_1_2_6_71_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320590122"},{"key":"e_1_2_6_72_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19971017)72:2<247::AID-AJMG25>3.0.CO;2-M"},{"key":"e_1_2_6_73_1","doi-asserted-by":"publisher","DOI":"10.1089\/gte.1997.1.99"},{"key":"e_1_2_6_74_1","first-page":"11","article-title":"The Philadelphia story: The 22q11. 2 deletion: Report on 250 patients","volume":"10","author":"McDonald\u2010McGinn DM","year":"1999","journal-title":"Genet Couns"},{"key":"e_1_2_6_75_1","doi-asserted-by":"publisher","DOI":"10.1097\/00125817-200101000-00006"},{"key":"e_1_2_6_76_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30069"},{"key":"e_1_2_6_77_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30746"},{"key":"e_1_2_6_78_1","doi-asserted-by":"publisher","DOI":"10.1097\/MD.0b013e3182060469"},{"key":"e_1_2_6_79_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2012-101320"},{"key":"e_1_2_6_80_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2008-2598"},{"key":"e_1_2_6_81_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(99)70415-4"},{"key":"e_1_2_6_82_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpsyc.56.10.940"},{"key":"e_1_2_6_83_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature10423"},{"key":"e_1_2_6_84_1","doi-asserted-by":"publisher","DOI":"10.1097\/00125817-200101000-00017"},{"key":"e_1_2_6_85_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ridd.2008.10.007"},{"key":"e_1_2_6_86_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ridd.2014.08.034"},{"key":"e_1_2_6_87_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.2003.026880"},{"key":"e_1_2_6_88_1","doi-asserted-by":"publisher","DOI":"10.1002\/wdev.75"},{"key":"e_1_2_6_89_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10519-011-9468-z"},{"key":"e_1_2_6_90_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ridd.2014.01.033"},{"key":"e_1_2_6_91_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.34.10.798"},{"key":"e_1_2_6_92_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2014.10.380"},{"key":"e_1_2_6_93_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2002.610511.x"},{"key":"e_1_2_6_94_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.036160"},{"key":"e_1_2_6_95_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(91)90501-5"},{"key":"e_1_2_6_96_1","doi-asserted-by":"publisher","DOI":"10.1176\/appi.ajp.2013.13070864"},{"key":"e_1_2_6_97_1","first-page":"1304","article-title":"[Insufficiency of palatolaryngeal passage as a developmental disorder.]","volume":"94","author":"Sedlakova E","year":"1955","journal-title":"Cas Lek Cesk"},{"key":"e_1_2_6_98_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.4.489"},{"key":"e_1_2_6_99_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2006.00569.x"},{"key":"e_1_2_6_100_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10897-010-9309-x"},{"key":"e_1_2_6_101_1","doi-asserted-by":"publisher","DOI":"10.1002\/ddrr.2"},{"key":"e_1_2_6_102_1","doi-asserted-by":"publisher","DOI":"10.2353\/jmoldx.2010.090099"},{"key":"e_1_2_6_103_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320250614"},{"key":"e_1_2_6_104_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.34.6.453"},{"key":"e_1_2_6_105_1","first-page":"79","article-title":"The behavioural phenotype in velo\u2010cardio\u2010facial syndrome(VCFS): From infancy to adolescence","volume":"10","author":"Swillen A","year":"1999","journal-title":"Genet Couns"},{"key":"e_1_2_6_106_1","first-page":"309","article-title":"Children with a 22q11 deletion versus children with a speech\u2010language impairment and learning disability: Behavior during primary school age","volume":"12","author":"Swillen A","year":"2001","journal-title":"Genet Couns"},{"key":"e_1_2_6_107_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.33.8.719"},{"key":"e_1_2_6_108_1","doi-asserted-by":"publisher","DOI":"10.1152\/physiolgenomics.00073.2010"},{"key":"e_1_2_6_109_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.chi.0000228131.56956.c1"},{"key":"e_1_2_6_110_1","doi-asserted-by":"crossref","unstructured":"VorstmanJA BreetveltE DuijffS EliezS SchneiderM JalbrzikowskiM ArmandoM VicariS a ShashiV HooperS ChowE Fung An ButcherN YoungD McDonald\u2010McGinnD VogelsA van AmelsvoortT GothelfD WeinbergerR WeizmanA KlaassenP KoopsS KatesW AntshelK SimonT OusleyO SwillenA GurR BeardenC KahnR BassettAS. the International 22q11. 2 Brain Behavior Syndrome Consortium.2015. A cognitive decline precedes the onset of psychosis in patients with the 22q11. 2 deletion syndrome. JAMA Feb 25 doi:10.1001\/jamapsychiatry.2014.2671. [Epub ahead of print].","DOI":"10.1001\/jamapsychiatry.2014.2671"},{"key":"e_1_2_6_111_1","doi-asserted-by":"publisher","DOI":"10.1086\/511993"}],"container-title":["American Journal of Medical Genetics Part C: Seminars in Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.c.31435","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.c.31435","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.c.31435","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.c.31435","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.c.31435","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,6]],"date-time":"2023-09-06T05:46:44Z","timestamp":1693979204000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.c.31435"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,5,18]]},"references-count":110,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2015,6]]}},"alternative-id":["10.1002\/ajmg.c.31435"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.c.31435","archive":["Portico"],"relation":{},"ISSN":["1552-4868","1552-4876"],"issn-type":[{"value":"1552-4868","type":"print"},{"value":"1552-4876","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,5,18]]}}}