Clinical and cognitive characteristics of Angelman syndrome
Introduction. Angelman syndrome, as a rare genetic and neurodevelopmental disorder characterized by severe intellectual deficit and falling behind in psychomotor development, represents a challenge for adequate and correct creation of individual (rehabilitation procedure. More precise determination...
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| Format: | Article |
| Language: | English |
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Univerzitet u Beogradu - Fakultet za specijalnu edukaciju i rehabilitaciju
2021-01-01
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| Series: | Specijalna Edukacija i Rehabilitacija |
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| Online Access: | https://scindeks-clanci.ceon.rs/data/pdf/1452-7367/2021/1452-73672102127Q.pdf |
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| author | Đurić-Zdravković Aleksandra A. Japundža-Milisavljević Mirjana M. Maksimović Ivana R. Roknić Ana T. |
| author_facet | Đurić-Zdravković Aleksandra A. Japundža-Milisavljević Mirjana M. Maksimović Ivana R. Roknić Ana T. |
| author_sort | Đurić-Zdravković Aleksandra A. |
| collection | DOAJ |
| description | Introduction. Angelman syndrome, as a rare genetic and neurodevelopmental disorder characterized by severe intellectual deficit and falling behind in psychomotor development, represents a challenge for adequate and correct creation of individual (rehabilitation procedure. More precise determination of cognitive and speech profile is difficult due to integrative hypermotor behavior and attention and speech deficits. Objective. The aim of this paper was to analyze and summarize empirical data on clinical, cognitive and speech characteristics of Angelman syndrome. Methods. A systematic review of the literature published in peer-reviewed publications, from 2001 to June 5, 2021, was performed by searching electronic databases available through the service of the Serbian Library Consortium for Coordinated Acquisition - KOBSON. A "hand search" (Research Gate and Google Scholar) was also used. Results. The analyzed results of the research indicate that the presence of sensorimotor schemes that represent cognitive structures of the earliest childhood is characteristic for Angelman syndrome. Receptive speech skills are more developed than expressive ones, which usually do not exist. Supportive therapy, which includes interventions in early childhood, speech therapy and occupational programs, is very important for treatment within this clinical picture. Conclusion. It is necessary to improve the process of assessing cognitive and speech skills due to the targeted creation of an individual cognitive-speech developmental profile. It is also crucial to identify urgent areas that require treatment and in which individual and family support should be provided. |
| first_indexed | 2024-12-14T09:18:02Z |
| format | Article |
| id | doaj.art-954b01287ad04ed689fa9e793bb1bad9 |
| institution | Directory Open Access Journal |
| issn | 1452-7367 2406-1328 |
| language | English |
| last_indexed | 2024-12-14T09:18:02Z |
| publishDate | 2021-01-01 |
| publisher | Univerzitet u Beogradu - Fakultet za specijalnu edukaciju i rehabilitaciju |
| record_format | Article |
| series | Specijalna Edukacija i Rehabilitacija |
| spelling | doaj.art-954b01287ad04ed689fa9e793bb1bad92022-12-21T23:08:23ZengUniverzitet u Beogradu - Fakultet za specijalnu edukaciju i rehabilitacijuSpecijalna Edukacija i Rehabilitacija1452-73672406-13282021-01-0120212714410.5937/specedreh20-326341452-73672102127QClinical and cognitive characteristics of Angelman syndromeĐurić-Zdravković Aleksandra A.0https://orcid.org/0000-0003-0115-2666Japundža-Milisavljević Mirjana M.1Maksimović Ivana R.2Roknić Ana T.3Univerzitet u Beogradu, Fakultet za specijalnu edukaciju i rehabilitaciju, Beograd, SerbiaUniverzitet u Beogradu, Fakultet za specijalnu edukaciju i rehabilitaciju, Beograd, SerbiaUstanova za decu i mlade "Sremčica", Beograd, SerbiaUniverzitet u Beogradu, Fakultet za specijalnu edukaciju i rehabilitaciju, Beograd, SerbiaIntroduction. Angelman syndrome, as a rare genetic and neurodevelopmental disorder characterized by severe intellectual deficit and falling behind in psychomotor development, represents a challenge for adequate and correct creation of individual (rehabilitation procedure. More precise determination of cognitive and speech profile is difficult due to integrative hypermotor behavior and attention and speech deficits. Objective. The aim of this paper was to analyze and summarize empirical data on clinical, cognitive and speech characteristics of Angelman syndrome. Methods. A systematic review of the literature published in peer-reviewed publications, from 2001 to June 5, 2021, was performed by searching electronic databases available through the service of the Serbian Library Consortium for Coordinated Acquisition - KOBSON. A "hand search" (Research Gate and Google Scholar) was also used. Results. The analyzed results of the research indicate that the presence of sensorimotor schemes that represent cognitive structures of the earliest childhood is characteristic for Angelman syndrome. Receptive speech skills are more developed than expressive ones, which usually do not exist. Supportive therapy, which includes interventions in early childhood, speech therapy and occupational programs, is very important for treatment within this clinical picture. Conclusion. It is necessary to improve the process of assessing cognitive and speech skills due to the targeted creation of an individual cognitive-speech developmental profile. It is also crucial to identify urgent areas that require treatment and in which individual and family support should be provided.https://scindeks-clanci.ceon.rs/data/pdf/1452-7367/2021/1452-73672102127Q.pdfangelman syndromeintellectual disabilityclinical characteristicscognitive characteristicsspeech(re)habilitation |
| spellingShingle | Đurić-Zdravković Aleksandra A. Japundža-Milisavljević Mirjana M. Maksimović Ivana R. Roknić Ana T. Clinical and cognitive characteristics of Angelman syndrome Specijalna Edukacija i Rehabilitacija angelman syndrome intellectual disability clinical characteristics cognitive characteristics speech (re)habilitation |
| title | Clinical and cognitive characteristics of Angelman syndrome |
| title_full | Clinical and cognitive characteristics of Angelman syndrome |
| title_fullStr | Clinical and cognitive characteristics of Angelman syndrome |
| title_full_unstemmed | Clinical and cognitive characteristics of Angelman syndrome |
| title_short | Clinical and cognitive characteristics of Angelman syndrome |
| title_sort | clinical and cognitive characteristics of angelman syndrome |
| topic | angelman syndrome intellectual disability clinical characteristics cognitive characteristics speech (re)habilitation |
| url | https://scindeks-clanci.ceon.rs/data/pdf/1452-7367/2021/1452-73672102127Q.pdf |
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