{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,2]],"date-time":"2025-08-02T16:51:11Z","timestamp":1754153471517,"version":"3.41.2"},"reference-count":51,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2025,7,23]],"date-time":"2025-07-23T00:00:00Z","timestamp":1753228800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Psychiatry"],"abstract":"<jats:sec><jats:title>Introduction<\/jats:title><jats:p>22q11.2 deletion syndrome (22q11.2DS), also known as velo-cardiofacial syndrome or DiGeorge syndrome (DGS) is highly variable in phenotype, encompassing a wide range of physical and neuropsychiatric manifestations (ID, ADHD, ASD, anxiety, major depressive disorder,obsessive-compulsive disorder, schizophrenia). In this retrospective study, we aimed to assess the clinical significance of sleep disturbances and their relationship with functional impairment in a cohort of 52 children and adolescents with 22q11.2DS, as well as psychological distress in their parents. Standardized measures, including the Sleep Disturbance Scale for Children (SDSC) and the Parenting Stress Index-Short Form (PSI-SF), were administered to parents.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The sample consisted of 26 males and 26 females, aged 5 to 18 years. Participants were referred to the Day Hospital follow up of  Child and Adolescent Neuropsychiatry Unit in the  Bambino Ges\u00f9 Children\u2019s Hospital in Rome, Italy, between January 2023 and December 2023. The total cohort was divided into two main groups based on the presence of sleep problems: (1) Group 1, with sleep problems, and (2) Group 2, without sleep problems. Both groups demonstrated low mean IQ scores and low general adaptive functioning, as measured by the Wechsler Intelligence Scale for Children (WISC-IV) and the ABAS II General Adaptive Composite (GAC), respectively. Furthermore, Group 1 exhibited significantly lower functioning when assessed using the CGAS. Additionally, Group 1 reported higher levels of self-reported anxiety symptoms (MASC-2) compared to Group 2. While none of the results reached the clinical range, scores in Group 1 were generally higher, particularly on the \u201cPerformance Fears\u201d subscale. A similar trend was observed in the \u201cNegative Self-Esteem\u201d subtest of the CDI 2 (self-report form). Although the average questionnaire scores did not fall within the clinical range, KSADS psychiatric diagnoses revealed the presence of various psychiatric disorders. Unexpectedly, these disorders were more prevalent in the group without sleep problems, except for anxiety disorders, which showed similar prevalence across both groups. Regarding parental stress, as measured by the PSI-SF, we did not observe a significant relationship between sleep disorders and parental stress, on the contrary to our expectations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results and discussion<\/jats:title><jats:p>Our study is one of the few to specifically investigate sleep problems in the pediatric population with 22q11.2DS and the first to use the Sleep Disturbance Scale for Children (SDSC) to assess various aspects of sleep disorders in this group. Further studies are required to draw more consistent conclusions.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fpsyt.2025.1595492","type":"journal-article","created":{"date-parts":[[2025,7,23]],"date-time":"2025-07-23T05:35:49Z","timestamp":1753248949000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Investigating the relationship between sleep disturbances and psychopathology In children and adolescents with microdeletion of 22q11 chromosome: an exploratory study"],"prefix":"10.3389","volume":"16","author":[{"given":"Maria Rosaria","family":"Lala","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Domenica","family":"Bellantoni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Federica Alice Maria","family":"Montanaro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Pontillo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paolo","family":"Alfieri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefano","family":"Vicari","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2025,7,23]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"15071","DOI":"10.1038\/nrdp.2015.71","article-title":"22q11.2 deletion syndrome","volume":"1","author":"McDonald-McGinn","year":"2015","journal-title":"Nat Rev Dis Primers"},{"key":"B2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2008.00858.x","article-title":"Facial features in children with the 22q11 deletion syndrome","volume":"97","author":"Oskarsd\u00f3ttir","year":"2008","journal-title":"Acta Pediatr"},{"key":"B3","doi-asserted-by":"publisher","first-page":"11841195","DOI":"10.1002\/ajmg.a.61152","article-title":"Palatal evaluation and treatment in 22q11.2 deletion syndrome","volume":"179","author":"Jackson","year":"2019","journal-title":"Am J Med Genet A"},{"key":"B4","article-title":"DiGeorge syndrome","volume-title":"StatPearls","author":"Lackey","year":"2023"},{"key":"B5","doi-asserted-by":"publisher","DOI":"10.1016\/j.ridd.2020.103698","article-title":"Relationship between parent-reported gastrointestinal symptoms, sleep problems, autism spectrum disorder symptoms, and behavior problems in children and adolescents with 22q11.2 deletion syndrome","volume":"104","author":"Leader","year":"2020","journal-title":"Res Dev Disabil"},{"key":"B6","doi-asserted-by":"publisher","DOI":"10.1017\/S0033291719001119","article-title":"Sleep\u00a0problems and associations with psychopathology and cognition in young people with 22q11.2 deletion syndrome (22q11.2DS)","volume":"50","author":"Molding","year":"2020","journal-title":"Psychol Med"},{"key":"B7","doi-asserted-by":"publisher","DOI":"10.1016\/j.psychres.2023.115230","article-title":"Multivariate patterns of disrupted sleep longitudinally predict affective vulnerability to psychosis in 22q11.2 Deletion Syndrome","volume":"325","author":"Reich","year":"2023","journal-title":"Psychiatry Res"},{"key":"B8","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1002\/mgg3.1153","article-title":"Sleep patterns and problems among children with 22q11 deletion syndrome","volume":"8","author":"Arganbright","year":"2020","journal-title":"Mol Genet Genomic Med"},{"key":"B9","doi-asserted-by":"publisher","DOI":"10.1176\/appi.ajp.2013.13070864","article-title":"International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome. 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