{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,13]],"date-time":"2026-02-13T21:52:52Z","timestamp":1771019572400,"version":"3.50.1"},"reference-count":33,"publisher":"MDPI AG","issue":"7","license":[{"start":{"date-parts":[[2024,6,25]],"date-time":"2024-06-25T00:00:00Z","timestamp":1719273600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"IFF\/Fiocruz","award":["PIBIC 09412"],"award-info":[{"award-number":["PIBIC 09412"]}]},{"name":"IFF\/Fiocruz","award":["57440919"],"award-info":[{"award-number":["57440919"]}]},{"DOI":"10.13039\/501100001654","name":"Deutscher Akademischer Austauschdienst\u2014DAAD","doi-asserted-by":"publisher","award":["PIBIC 09412"],"award-info":[{"award-number":["PIBIC 09412"]}],"id":[{"id":"10.13039\/501100001654","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001654","name":"Deutscher Akademischer Austauschdienst\u2014DAAD","doi-asserted-by":"publisher","award":["57440919"],"award-info":[{"award-number":["57440919"]}],"id":[{"id":"10.13039\/501100001654","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Children"],"abstract":"<jats:p>The 22q11.2 deletion syndrome (DS) can have a significant impact on functionality. The purpose was to describe 22q11.2DS children with functioning from a biopsychosocial perspective, focusing on the impact of children\u2019s health condition from domains of the International Classification of Functioning, Disability, and Health (ICF). Methods: A descriptive, cross-sectional case series study with seven 22q11.2DS children. A questionnaire with an ICF checklist for 22q11.2DS was completed using a structured interview. The Wechsler Abbreviated Scale of Intelligence (WASI) was used to determine the Intelligence Quotient (IQ). Results: Seven participants from 7 to 12 years old, presented some level of IQ impairment. It was observed that 22q11.2DS children experience significant intellectual, cognitive, and speech impairments across ICF Body Function domains. Impairments related to nose and pharynx were found in only one patient. The most relevant categories considered limitations in the Activity and Participation components pertained to producing nonverbal messages, communication, handling stress, and social interaction. Family, health professionals, and acquaintances were perceived as facilitators in the component Environmental Factors. Conclusion: The sample has its functioning affected by aspects that go beyond impairments in body structure and function. The organization of information from the perspective of the ICF is a different approach that helps clinical reasoning.<\/jats:p>","DOI":"10.3390\/children11070767","type":"journal-article","created":{"date-parts":[[2024,6,27]],"date-time":"2024-06-27T05:11:39Z","timestamp":1719465099000},"page":"767","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["The 22q11.2 Deletion Syndrome from A Biopsychosocial Perspective: A Series of Cases with an ICF-Based Approach"],"prefix":"10.3390","volume":"11","author":[{"given":"Ana Paula Corr\u00eaa","family":"Cabral","sequence":"first","affiliation":[{"name":"National Institute of Women\u2019s, Children\u2019s and Adolescents\u2019 Health Fernandes Figueira (IFF\/Fiocruz), Rio de Janeiro 22250-020, RJ, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7726-4301","authenticated-orcid":false,"given":"Dafne Dain Gandelman","family":"Horovitz","sequence":"additional","affiliation":[{"name":"National Institute of Women\u2019s, Children\u2019s and Adolescents\u2019 Health Fernandes Figueira (IFF\/Fiocruz), Rio de Janeiro 22250-020, RJ, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1278-3394","authenticated-orcid":false,"given":"Lidiane Nogueira","family":"Santos","sequence":"additional","affiliation":[{"name":"National Institute of Women\u2019s, Children\u2019s and Adolescents\u2019 Health Fernandes Figueira (IFF\/Fiocruz), Rio de Janeiro 22250-020, RJ, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5814-7625","authenticated-orcid":false,"given":"Amanda Oliveira de","family":"Carvalho","sequence":"additional","affiliation":[{"name":"National Institute of Women\u2019s, Children\u2019s and Adolescents\u2019 Health Fernandes Figueira (IFF\/Fiocruz), Rio de Janeiro 22250-020, RJ, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3105-201X","authenticated-orcid":false,"given":"Cristina Maria Duarte","family":"Wigg","sequence":"additional","affiliation":[{"name":"Psychology Institute, Federal University of Rio de Janeiro (UFRJ), Rio de Janeiro 21941-901, RJ, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luciana","family":"Castaneda","sequence":"additional","affiliation":[{"name":"Faculty of Physical Therapy, Federal Institute of Rio de Janeiro (IFRJ), Rio de Janeiro 21710-040, RJ, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liane","family":"Simon","sequence":"additional","affiliation":[{"name":"Faculty of Art, Health and Social Science, MSH Medical School Hamburg, 20457 Hamburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2478-9144","authenticated-orcid":false,"given":"Carla Trevisan Martins","family":"Ribeiro","sequence":"additional","affiliation":[{"name":"National Institute of Women\u2019s, Children\u2019s and Adolescents\u2019 Health Fernandes Figueira (IFF\/Fiocruz), Rio de Janeiro 22250-020, RJ, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,6,25]]},"reference":[{"key":"ref_1","first-page":"E802","article-title":"Estimate of the contemporary live-birth prevalence of recurrent 22q11.2 deletions: A cross-sectional analysis from population-based newborn screening","volume":"9","author":"Blagojevic","year":"2021","journal-title":"Can. Med. Assoc. Open Access J."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"15071","DOI":"10.1038\/nrdp.2015.71","article-title":"22q11.2 deletion syndrome","volume":"1","author":"Sullivan","year":"2015","journal-title":"Nat. Rev. Dis. Primer."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1017\/S0012162205000320","article-title":"Disabilities and cognition in children and adolescents with 22q11 deletion syndrome","volume":"47","author":"Belfrage","year":"2005","journal-title":"Dev. Med. Child Neurol."},{"key":"ref_4","unstructured":"Shprintzen, R.J. (2022, January 04). Velo-Cardio-Facial Syndrome: A Distinctive Behavioral Phenotype. MRDD Research Reviews. Available online: https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/1098-2779(2000)6:2%3C142::AID-MRDD9%3E3.0.CO;2-H."},{"key":"ref_5","doi-asserted-by":"crossref","unstructured":"Boerma, T., Everaert, E., Vlieger, D., Steggink, M., Selten, I., Houben, M., Vorstman, J., Gerrits, E., and Wijnen, F. (2023). Grammatical skills of Dutch children with 22q11.2 Deletion Syndrome in comparison with children with Developmental Language Disorder: Evidence from spontaneous language and standardized assessment. Front. Commun., 8.","DOI":"10.3389\/fcomm.2023.1111584"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"753","DOI":"10.1067\/mpd.2002.124774","article-title":"Language skills in children with velocardiofacial syndrome (deletion 22q11.2)","volume":"140","author":"Glaser","year":"2002","journal-title":"J. Pediatr."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"984","DOI":"10.1044\/2019_AJSLP-16-0147","article-title":"Speech-Language Disorders in 22q11.2 Deletion Syndrome: Best Practices for Diagnosis and Management","volume":"28","author":"Solot","year":"2019","journal-title":"Am. J. Speech-Lang. Pathol."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"701","DOI":"10.1111\/j.1365-2788.2010.01298.x","article-title":"Core neuropsychological characteristics of children and adolescents with 22q11.2 deletion: Cognitive deficits in 22q11.2 deletion syndrome","volume":"54","author":"Jacobson","year":"2010","journal-title":"J. Intellect. Disabil. Res."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1016\/S0022-3476(99)70415-4","article-title":"Psychoeducational profile of the 22q11.2 microdeletion: A complex pattern","volume":"134","author":"Moss","year":"1999","journal-title":"J. Pediatr."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"714","DOI":"10.1002\/(SICI)1096-8628(19991215)88:6<714::AID-AJMG24>3.0.CO;2-B","article-title":"Early speech and language development in children with velocardiofacial syndrome","volume":"15","author":"Scherer","year":"1999","journal-title":"Am. J. Med. Genet."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1080\/13682820500361497","article-title":"Language skills in 5\u20138-year-old children with 22q11 deletion syndrome","volume":"41","author":"Persson","year":"2006","journal-title":"Int. J. Lang. Commun. Disord."},{"key":"ref_12","first-page":"237","article-title":"Desempenho nas habilidades subjacentes a aprendizagem em um caso de Sindrome Velocardiofacial","volume":"27","author":"Freire","year":"2015","journal-title":"Dist\u00farbios Comun."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"1475","DOI":"10.1016\/j.jpeds.2014.01.056","article-title":"Clinical Features and Follow-Up in Patients with 22q11.2 Deletion Syndrome","volume":"164","author":"Cancrini","year":"2014","journal-title":"J. Pediatr."},{"key":"ref_14","unstructured":"Adam, M.P., Feldman, J., Mirzaa, G.M., Pagon, R.A., Wallace, S.E., Bean, L.J.H., Gripp, K.W., and Amemiya, A. (1999). 22q11.2 Deletion Syndrome. GeneReviews\u00ae, University of Washington."},{"key":"ref_15","unstructured":"World Health Organization (2001). International Classification of Functioning, Disability and Health: ICF, World Health Organization."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"156","DOI":"10.3109\/17549507.2011.514946","article-title":"Communication attitude and speech in 10-year-old children with cleft (lip and) palate: An ICF perspective","volume":"13","author":"Havstam","year":"2011","journal-title":"Int. J. Speech Lang. Pathol."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1177\/0265659016630775","article-title":"Communication performance of children with Down Syndrome: An ICF-CY based multiple case study","volume":"32","author":"Deckers","year":"2016","journal-title":"Child Lang. Teach. Ther."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1055\/s-2007-986523","article-title":"Application of the ICF in Children with Language Impairments","volume":"28","author":"Westby","year":"2007","journal-title":"Semin. Speech Lang."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"e20190158","DOI":"10.1590\/2317-1782\/20202019158","article-title":"Identification of relevant International Classification of Functioning Disability and Health (ICF) categories in patients with 22q11.2 Deletion Syndrome: A Delphi exercise","volume":"32","author":"Ribeiro","year":"2020","journal-title":"CoDAS"},{"key":"ref_20","unstructured":"B\u00e9fi-Lopes, D.M., and de Andrade, C.R.F. (2004). ABFW: Teste de Linguagem Infantil nas \u00c1reas de Fonologia, Vocabul\u00e1rio, Flu\u00eancia e Pragm\u00e1tica, Pr\u00f3-Fono."},{"key":"ref_21","unstructured":"Trentini, C.M., Yates, D.B., and Heck, V.S. (2014). Escala de Intelig\u00eancia Wechsler Abreviada (WASI): Manual Profissional, Casa do Psic\u00f3logo. Available online: https:\/\/sapiens-psi.com.br\/wasi-escala-wechsler-abreviada-de-inteligencia-manuall."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1016\/S0021-9924(00)00018-6","article-title":"Communication disorders in the 22Q11.2 microdeletion syndrome","volume":"33","author":"Solot","year":"2000","journal-title":"J. Commun. Disord."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1111\/j.1365-2788.2006.00859.x","article-title":"Temperament in velocardiofacial syndrome","volume":"51","author":"Antshel","year":"2007","journal-title":"J. Intellect. Disabil. Res."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"639","DOI":"10.1097\/DBP.0000000000000210","article-title":"Behavioral and Psychiatric Phenotypes in 22q11.2 Deletion Syndrome","volume":"36","author":"Tang","year":"2015","journal-title":"J. Dev. Behav. Pediatr."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1111\/jir.12250","article-title":"Visual processing of emotional dynamic faces in 22q11.2 deletion syndrome: Visual processing of emotional dynamic faces in 22q11DS","volume":"60","author":"Franchini","year":"2016","journal-title":"J. Intellect. Disabil. Res."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1192\/bjp.bp.113.132324","article-title":"Psychopathology and cognition in children with 22q11.2 deletion syndrome","volume":"204","author":"Niarchou","year":"2014","journal-title":"Br. J. Psychiatry"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"2937","DOI":"10.1016\/j.ridd.2013.06.001","article-title":"Cognitive and behavioral trajectories in 22q11DS from childhood into adolescence: A prospective 6-year follow-up study","volume":"34","author":"Duijff","year":"2013","journal-title":"Res. Dev. Disabil."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"1060","DOI":"10.1097\/CHI.0b013e3181b76683","article-title":"Psychiatric disorders and intellectual functioning throughout development in velocardiofacial (22q11.2 deletion) syndrome","volume":"48","author":"Green","year":"2009","journal-title":"J. Am. Acad. Child Adolesc. Psychiatry"},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"172","DOI":"10.1002\/ajmg.c.31435","article-title":"Developmental trajectories in 22q11.2 deletion syndrome","volume":"169","author":"Swillen","year":"2015","journal-title":"Am. J. Med. Genet. C Semin. Med. Genet."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1016\/j.schres.2003.10.004","article-title":"Cognitive deficits associated with schizophrenia in velo-cardio-facial syndrome","volume":"70","author":"Amelsvoort","year":"2004","journal-title":"Schizophr. Res."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1111\/j.1468-2958.1977.tb00525.x","article-title":"Studies of the relationship between communication apprehension and self-esteem","volume":"3","author":"McCroskey","year":"1977","journal-title":"Hum. Commun. Res."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1097\/00004583-200101000-00019","article-title":"Fourteen-Year Follow-up of Speech\/Language-Impaired and Control Children: Psychiatric Outcome","volume":"40","author":"Beitchman","year":"2001","journal-title":"J. Am. Acad. Child Adolesc. Psychiatry"},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"630","DOI":"10.1017\/S135561772300797X","article-title":"22 Adaptive Functioning in 22q11.2 Deletion Syndrome Across the Lifespan: Where are the Social Determinants of Health?","volume":"29","author":"Dorsman","year":"2023","journal-title":"J. Int. Neuropsychol. Soc."}],"container-title":["Children"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2227-9067\/11\/7\/767\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T15:04:03Z","timestamp":1760108643000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2227-9067\/11\/7\/767"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,6,25]]},"references-count":33,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2024,7]]}},"alternative-id":["children11070767"],"URL":"https:\/\/doi.org\/10.3390\/children11070767","relation":{},"ISSN":["2227-9067"],"issn-type":[{"value":"2227-9067","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,6,25]]}}}