Developmental characteristics of Williams-Beuren syndrome and evaluation of adaptive behavioral skills

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dc.authoridKayhan, Zeynep/0000-0003-0579-1115
dc.authoridYagin, Fatma Hilal/0000-0002-9848-7958
dc.authoridBuyukavci, Mehmet Akif/0000-0001-6884-1832
dc.authorwosidKayhan, Zeynep/AAJ-4623-2021
dc.authorwosidYagin, Fatma Hilal/ABI-8066-2020
dc.authorwosidBuyukavci, Mehmet Akif/HCH-2615-2022
dc.contributor.authorGuven Baysal, Senay
dc.contributor.authorArslan, Feyzullah Necati
dc.contributor.authorBuyukavci, Mehmet Akif
dc.contributor.authorYagin, Fatma Hilal
dc.contributor.authorEkici, Cemal
dc.contributor.authorEsener, Zeynep
dc.contributor.authorGumus Dogan, Derya
dc.date.accessioned2024-08-04T20:10:23Z
dc.date.available2024-08-04T20:10:23Z
dc.date.issued2023
dc.departmentİnönü Üniversitesien_US
dc.description.abstractBackground/aim: Williams-Beuren syndrome (WBS) is a rare genetic disorder with delays in language and cognitive development, but, with increased awareness of clinical features and a reliable diagnostic test, WBS is becoming more widely recognized in childhood. Adaptive behavior skills and/or maladaptive behavior are important for the prognosis of individuals with WBS. The aim of this study was to investigate the clinical and developmental characteristics of patients with WBS and further increase awareness about it by evaluating the adaptive skills and maladaptive behaviors of the patients.Materials and methods: The data of WBS patients followed-up at the Developmental Behavioral Pediatrics Unit were reviewed. Patient data on perinatal and postnatal history, developmental stages, physical and neurological examination findings were collected. The International Guide for Monitoring Child Development (GMCD) was administered to each child. In addition, semistructured interviews were conducted with the parents using the Vineland Adaptive Behavior Scales, Second edition (Vineland-II).Results: A total of 12 patients diagnosed with WBS via detection of the 7q11.23 deletion, of whom 6 were girls, were retrospectively reviewed. The mean age at the time of review was 54.6 +/- 32.5 months. The mean age at first presentation to the Developmental Behavioral Pediatrics Outpatient Clinic was 15 +/- 11.5 months. In the first developmental evaluation using the GMCD, there was a delay in fine and gross motor domains in 6 patients, in the language domains in 4 patients, and in all of the domains in 2 patients. Findings with Vineland-II showed socialization and communication domains as strengths, but the daily living skills and motor skills domains were weaknesses. In terms of maladaptive behavior, the patients tended to frequently have behavioral problems, neurodevelopmental disease, anxiety disorders, eating problems, and sleeping problems.Conclusion: This retrospective review of 12 patients indicated a general delay in overall development, and confirmed impairment in both adaptive and maladaptive functioning in WBS.en_US
dc.identifier.doi10.55730/1300-0144.5701
dc.identifier.endpage1357en_US
dc.identifier.issn1300-0144
dc.identifier.issn1303-6165
dc.identifier.issue5en_US
dc.identifier.pmid38812996en_US
dc.identifier.scopus2-s2.0-85175575381en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage1348en_US
dc.identifier.trdizinid1209082en_US
dc.identifier.urihttps://doi.org/10.55730/1300-0144.5701
dc.identifier.urihttps://search.trdizin.gov.tr/yayin/detay/1209082
dc.identifier.urihttps://hdl.handle.net/11616/92751
dc.identifier.volume53en_US
dc.identifier.wosWOS:001108669900022en_US
dc.identifier.wosqualityQ2en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakTR-Dizinen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherTubitak Scientific & Technological Research Council Turkeyen_US
dc.relation.ispartofTurkish Journal of Medical Sciencesen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectWilliams-Beuren syndromeen_US
dc.subjectdevelopmental behavioral pediatricsen_US
dc.subjectadaptive behavioren_US
dc.subjectmaladaptive behavioren_US
dc.subjectdevelopmental monitoringen_US
dc.titleDevelopmental characteristics of Williams-Beuren syndrome and evaluation of adaptive behavioral skillsen_US
dc.typeArticleen_US

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