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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Autores principales:	Đurić-Zdravković Aleksandra A., Japundža-Milisavljević Mirjana M., Maksimović Ivana R., Roknić Ana T.
Formato:	article
Lenguaje:	EN SR
Publicado:	Univerzitet u Beogradu - Fakultet za specijalnu edukaciju i rehabilitaciju 2021
Materias:	angelman syndrome intellectual disability clinical characteristics cognitive characteristics speech (re)habilitation Special aspects of education LC8-6691
Acceso en línea:	https://doaj.org/article/954b01287ad04ed689fa9e793bb1bad9
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spelling	oai:doaj.org-article:954b01287ad04ed689fa9e793bb1bad92021-12-05T21:32:13ZClinical and cognitive characteristics of Angelman syndrome1452-73672406-132810.5937/specedreh20-32634https://doaj.org/article/954b01287ad04ed689fa9e793bb1bad92021-01-01T00:00:00Zhttps://scindeks-clanci.ceon.rs/data/pdf/1452-7367/2021/1452-73672102127Q.pdfhttps://doaj.org/toc/1452-7367https://doaj.org/toc/2406-1328Introduction. 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.Đurić-Zdravković Aleksandra A.Japundža-Milisavljević Mirjana M.Maksimović Ivana R.Roknić Ana T.Univerzitet u Beogradu - Fakultet za specijalnu edukaciju i rehabilitacijuarticleangelman syndromeintellectual disabilityclinical characteristicscognitive characteristicsspeech(re)habilitationSpecial aspects of educationLC8-6691ENSRSpecijalna Edukacija i Rehabilitacija, Vol 20, Iss 2, Pp 127-144 (2021)
institution	DOAJ
collection	DOAJ
language	EN SR
topic	angelman syndrome intellectual disability clinical characteristics cognitive characteristics speech (re)habilitation Special aspects of education LC8-6691
spellingShingle	angelman syndrome intellectual disability clinical characteristics cognitive characteristics speech (re)habilitation Special aspects of education LC8-6691 Đurić-Zdravković Aleksandra A. Japundža-Milisavljević Mirjana M. Maksimović Ivana R. Roknić Ana T. Clinical and cognitive characteristics of Angelman syndrome
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.
format	article
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.
title	Clinical and cognitive characteristics of Angelman syndrome
title_short	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_sort	clinical and cognitive characteristics of angelman syndrome
publisher	Univerzitet u Beogradu - Fakultet za specijalnu edukaciju i rehabilitaciju
publishDate	2021
url	https://doaj.org/article/954b01287ad04ed689fa9e793bb1bad9
work_keys_str_mv	AT đuriczdravkovicaleksandraa clinicalandcognitivecharacteristicsofangelmansyndrome AT japundzamilisavljevicmirjanam clinicalandcognitivecharacteristicsofangelmansyndrome AT maksimovicivanar clinicalandcognitivecharacteristicsofangelmansyndrome AT roknicanat clinicalandcognitivecharacteristicsofangelmansyndrome
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Clinical and cognitive characteristics of Angelman syndrome

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