Vilijamsov sindrom – fenotipske i razvojne specifičnosti
Williams syndrome – phenotypical and developmental specificities
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Vilijamsov sindrom je genetski i razvojni poremećaj okarakterisan brojnim
anomalijama i sniženim kvalitetom razvojnog seta. Strukturiranje (re)habilitacionog tretmana u slučaju ove kliničke slike je i dalje izazovno. Cilj ovog
rada je analiziranje podataka o fenotipskom određenju i neurorazvojnim
karakteristikama Vilijamsovog sindroma. Sistematski pregled literature
objavljene u akademskim publikacijama izvršen je pretraživanjem elektronskih baza podataka koje su dostupne preko servisa Konzorcijuma biblioteka Srbije za objedinjenu nabavku – KOBSON, kao i korišćenjem pretrage
uz Research Gate, Academia i Google Scholar. Rezultati ovako načinjene
analize ukazuju da kombinacija intelektualne ometenosti, medicinskih
problema, poremećaja u ponašanju, psiholoških i adaptivnih deficita dovodi do značajnih ograničenja kvaliteta života kod osoba sa Vilijamsovim
sindromom. Zato se u radu naglašava važnost psihoedukacione evaluacije
jedinstvenog kognitivnog i bihevioralnog profila u služ...bi pravilnog kreiranja
odgovarajućeg obrazovnog plana.
Williams syndrome is a genetic and developmental disorder characterized
by numerous anomalies and reduced quality of the developmental set.
Structuring (re)habilitation treatment regarding this clinical picture is
still challenging. The aim of this paper is to analyze data on the phenotypic
determination and neurodevelopmental characteristics of Williams syndrome.
A systematic review of the literature published in academic publications was
carried out by searching electronic databases that are available through the
service of the Serbian Library Consortium for Coordinated Acquisition –
KOBSON, as well as by using searches with Research Gate, Academia and
Google Scholar. The results of this analysis indicate that the combination of
intellectual disabilities, medical problems, behavioral disorders, psychological and adaptive deficits leads to significant limitations in the quality of life of people
with Williams syndrome. That is why the paper emphasizes the importance of
psy...choeducational evaluation of a unique cognitive and behavioral profile in
the service of the proper creation of an appropriate educational plan.
Keywords:
fenotipska određenja / intelektualna ometenost / neurorazvojni set / Vilijamsov sindrom / intellectual disability / neurodevelopmental set / phenotypic determinations / Williams syndromeSource:
Beogradska defektološka škola, 2023, 29, 1, 9-21Publisher:
- Drustvo defektologa Srbije
- Univerzitet u Beogradu – Fakultet za specijalnu edukaciju i rehabilitaciju/ University of Belgrade – Faculty of Special Education and Rehabilitation
Funding / projects:
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rFASPERTY - JOUR AU - Đurić-Zdravković, Aleksandra AU - Obradović, Iva PY - 2023 UR - http://rfasper.fasper.bg.ac.rs/handle/123456789/5171 AB - Vilijamsov sindrom je genetski i razvojni poremećaj okarakterisan brojnim anomalijama i sniženim kvalitetom razvojnog seta. Strukturiranje (re)habilitacionog tretmana u slučaju ove kliničke slike je i dalje izazovno. Cilj ovog rada je analiziranje podataka o fenotipskom određenju i neurorazvojnim karakteristikama Vilijamsovog sindroma. Sistematski pregled literature objavljene u akademskim publikacijama izvršen je pretraživanjem elektronskih baza podataka koje su dostupne preko servisa Konzorcijuma biblioteka Srbije za objedinjenu nabavku – KOBSON, kao i korišćenjem pretrage uz Research Gate, Academia i Google Scholar. Rezultati ovako načinjene analize ukazuju da kombinacija intelektualne ometenosti, medicinskih problema, poremećaja u ponašanju, psiholoških i adaptivnih deficita dovodi do značajnih ograničenja kvaliteta života kod osoba sa Vilijamsovim sindromom. Zato se u radu naglašava važnost psihoedukacione evaluacije jedinstvenog kognitivnog i bihevioralnog profila u službi pravilnog kreiranja odgovarajućeg obrazovnog plana. AB - Williams syndrome is a genetic and developmental disorder characterized by numerous anomalies and reduced quality of the developmental set. Structuring (re)habilitation treatment regarding this clinical picture is still challenging. The aim of this paper is to analyze data on the phenotypic determination and neurodevelopmental characteristics of Williams syndrome. A systematic review of the literature published in academic publications was carried out by searching electronic databases that are available through the service of the Serbian Library Consortium for Coordinated Acquisition – KOBSON, as well as by using searches with Research Gate, Academia and Google Scholar. The results of this analysis indicate that the combination of intellectual disabilities, medical problems, behavioral disorders, psychological and adaptive deficits leads to significant limitations in the quality of life of people with Williams syndrome. That is why the paper emphasizes the importance of psychoeducational evaluation of a unique cognitive and behavioral profile in the service of the proper creation of an appropriate educational plan. PB - Drustvo defektologa Srbije PB - Univerzitet u Beogradu – Fakultet za specijalnu edukaciju i rehabilitaciju/ University of Belgrade – Faculty of Special Education and Rehabilitation T2 - Beogradska defektološka škola T1 - Vilijamsov sindrom – fenotipske i razvojne specifičnosti T1 - Williams syndrome – phenotypical and developmental specificities EP - 21 IS - 1 SP - 9 VL - 29 UR - https://hdl.handle.net/21.15107/rcub_rfasper_5171 ER -
@article{ author = "Đurić-Zdravković, Aleksandra and Obradović, Iva", year = "2023", abstract = "Vilijamsov sindrom je genetski i razvojni poremećaj okarakterisan brojnim anomalijama i sniženim kvalitetom razvojnog seta. Strukturiranje (re)habilitacionog tretmana u slučaju ove kliničke slike je i dalje izazovno. Cilj ovog rada je analiziranje podataka o fenotipskom određenju i neurorazvojnim karakteristikama Vilijamsovog sindroma. Sistematski pregled literature objavljene u akademskim publikacijama izvršen je pretraživanjem elektronskih baza podataka koje su dostupne preko servisa Konzorcijuma biblioteka Srbije za objedinjenu nabavku – KOBSON, kao i korišćenjem pretrage uz Research Gate, Academia i Google Scholar. Rezultati ovako načinjene analize ukazuju da kombinacija intelektualne ometenosti, medicinskih problema, poremećaja u ponašanju, psiholoških i adaptivnih deficita dovodi do značajnih ograničenja kvaliteta života kod osoba sa Vilijamsovim sindromom. Zato se u radu naglašava važnost psihoedukacione evaluacije jedinstvenog kognitivnog i bihevioralnog profila u službi pravilnog kreiranja odgovarajućeg obrazovnog plana., Williams syndrome is a genetic and developmental disorder characterized by numerous anomalies and reduced quality of the developmental set. Structuring (re)habilitation treatment regarding this clinical picture is still challenging. The aim of this paper is to analyze data on the phenotypic determination and neurodevelopmental characteristics of Williams syndrome. A systematic review of the literature published in academic publications was carried out by searching electronic databases that are available through the service of the Serbian Library Consortium for Coordinated Acquisition – KOBSON, as well as by using searches with Research Gate, Academia and Google Scholar. The results of this analysis indicate that the combination of intellectual disabilities, medical problems, behavioral disorders, psychological and adaptive deficits leads to significant limitations in the quality of life of people with Williams syndrome. That is why the paper emphasizes the importance of psychoeducational evaluation of a unique cognitive and behavioral profile in the service of the proper creation of an appropriate educational plan.", publisher = "Drustvo defektologa Srbije, Univerzitet u Beogradu – Fakultet za specijalnu edukaciju i rehabilitaciju/ University of Belgrade – Faculty of Special Education and Rehabilitation", journal = "Beogradska defektološka škola", title = "Vilijamsov sindrom – fenotipske i razvojne specifičnosti, Williams syndrome – phenotypical and developmental specificities", pages = "21-9", number = "1", volume = "29", url = "https://hdl.handle.net/21.15107/rcub_rfasper_5171" }
Đurić-Zdravković, A.,& Obradović, I.. (2023). Vilijamsov sindrom – fenotipske i razvojne specifičnosti. in Beogradska defektološka škola Drustvo defektologa Srbije., 29(1), 9-21. https://hdl.handle.net/21.15107/rcub_rfasper_5171
Đurić-Zdravković A, Obradović I. Vilijamsov sindrom – fenotipske i razvojne specifičnosti. in Beogradska defektološka škola. 2023;29(1):9-21. https://hdl.handle.net/21.15107/rcub_rfasper_5171 .
Đurić-Zdravković, Aleksandra, Obradović, Iva, "Vilijamsov sindrom – fenotipske i razvojne specifičnosti" in Beogradska defektološka škola, 29, no. 1 (2023):9-21, https://hdl.handle.net/21.15107/rcub_rfasper_5171 .