Cognitive functioning in children and adults with Smith-Magenis syndrome
Autor(a) principal: | |
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Data de Publicação: | 2012 |
Outros Autores: | , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | http://hdl.handle.net/1822/22358 |
Resumo: | Smith-Magenis Syndrome (SMS) is a genetic neurodevelopmental disorder caused by a microdeletion on chromosome 17p11.2. This syndrome is characterized by a distinctive profile of physical, medical and neuropsychological characteristics. The latter include general mental disability, with the majority of individuals falling within the mild to moderate range. This study reports a detailed cognitive assessment of children and adults with SMS with the use of the Wechsler intelligence scales at three distinct levels of analysis: full scale IQ, factorial indices, and subtests. Child and adult samples were each compared to samples of age and gender-matched typically developing individuals. To our knowledge, this is the first study to systematically analyse the cognitive profile of individuals with SMS in Southern Europe. The present study confirmed mental disability, particularly within the moderate category, as a consistent feature of children and adults with SMS. Furthermore, both child and adult samples evidenced significant impairments in all four indices when compared with their typically developing counterparts. A specific pattern of strengths and weaknesses was discernible for both samples, with Verbal Comprehension emerging as a relative strength, whereas Working Memory appeared as a relative weakness. Finally, with the exception of two subtests in the perceptual domain, we found no evidence for a general cognitive decline with age. |
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Cognitive functioning in children and adults with Smith-Magenis syndromeSmith-Magenis syndromeCognitive profileNeurodevelopmentScience & TechnologySmith-Magenis Syndrome (SMS) is a genetic neurodevelopmental disorder caused by a microdeletion on chromosome 17p11.2. This syndrome is characterized by a distinctive profile of physical, medical and neuropsychological characteristics. The latter include general mental disability, with the majority of individuals falling within the mild to moderate range. This study reports a detailed cognitive assessment of children and adults with SMS with the use of the Wechsler intelligence scales at three distinct levels of analysis: full scale IQ, factorial indices, and subtests. Child and adult samples were each compared to samples of age and gender-matched typically developing individuals. To our knowledge, this is the first study to systematically analyse the cognitive profile of individuals with SMS in Southern Europe. The present study confirmed mental disability, particularly within the moderate category, as a consistent feature of children and adults with SMS. Furthermore, both child and adult samples evidenced significant impairments in all four indices when compared with their typically developing counterparts. A specific pattern of strengths and weaknesses was discernible for both samples, with Verbal Comprehension emerging as a relative strength, whereas Working Memory appeared as a relative weakness. Finally, with the exception of two subtests in the perceptual domain, we found no evidence for a general cognitive decline with age.Fundação para a Ciência e a Tecnologia (PTDC/PSI-PCL/115316/2009); Fundación Alicia Koplowitz (5th Call for grants for Research in Childhood and Adolescent Psychiatry Early Neurodegenerative Diseases)ElsevierUniversidade do MinhoOsório, Ana Alexandra CaldasCruz, RaquelSampaio, AdrianaGarayzábal Heinze, ElenaCarracedo, ÁngelFérnandez-Prieto, Montserrat20122012-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/1822/22358eng1769-721210.1016/j.ejmg.2012.04.00122579991http://www.elsevier.com/locate/ejmginfo:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2024-05-11T07:32:48Zoai:repositorium.sdum.uminho.pt:1822/22358Portal AgregadorONGhttps://www.rcaap.pt/oai/openairemluisa.alvim@gmail.comopendoar:71602024-05-11T07:32:48Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
Cognitive functioning in children and adults with Smith-Magenis syndrome |
title |
Cognitive functioning in children and adults with Smith-Magenis syndrome |
spellingShingle |
Cognitive functioning in children and adults with Smith-Magenis syndrome Osório, Ana Alexandra Caldas Smith-Magenis syndrome Cognitive profile Neurodevelopment Science & Technology |
title_short |
Cognitive functioning in children and adults with Smith-Magenis syndrome |
title_full |
Cognitive functioning in children and adults with Smith-Magenis syndrome |
title_fullStr |
Cognitive functioning in children and adults with Smith-Magenis syndrome |
title_full_unstemmed |
Cognitive functioning in children and adults with Smith-Magenis syndrome |
title_sort |
Cognitive functioning in children and adults with Smith-Magenis syndrome |
author |
Osório, Ana Alexandra Caldas |
author_facet |
Osório, Ana Alexandra Caldas Cruz, Raquel Sampaio, Adriana Garayzábal Heinze, Elena Carracedo, Ángel Férnandez-Prieto, Montserrat |
author_role |
author |
author2 |
Cruz, Raquel Sampaio, Adriana Garayzábal Heinze, Elena Carracedo, Ángel Férnandez-Prieto, Montserrat |
author2_role |
author author author author author |
dc.contributor.none.fl_str_mv |
Universidade do Minho |
dc.contributor.author.fl_str_mv |
Osório, Ana Alexandra Caldas Cruz, Raquel Sampaio, Adriana Garayzábal Heinze, Elena Carracedo, Ángel Férnandez-Prieto, Montserrat |
dc.subject.por.fl_str_mv |
Smith-Magenis syndrome Cognitive profile Neurodevelopment Science & Technology |
topic |
Smith-Magenis syndrome Cognitive profile Neurodevelopment Science & Technology |
description |
Smith-Magenis Syndrome (SMS) is a genetic neurodevelopmental disorder caused by a microdeletion on chromosome 17p11.2. This syndrome is characterized by a distinctive profile of physical, medical and neuropsychological characteristics. The latter include general mental disability, with the majority of individuals falling within the mild to moderate range. This study reports a detailed cognitive assessment of children and adults with SMS with the use of the Wechsler intelligence scales at three distinct levels of analysis: full scale IQ, factorial indices, and subtests. Child and adult samples were each compared to samples of age and gender-matched typically developing individuals. To our knowledge, this is the first study to systematically analyse the cognitive profile of individuals with SMS in Southern Europe. The present study confirmed mental disability, particularly within the moderate category, as a consistent feature of children and adults with SMS. Furthermore, both child and adult samples evidenced significant impairments in all four indices when compared with their typically developing counterparts. A specific pattern of strengths and weaknesses was discernible for both samples, with Verbal Comprehension emerging as a relative strength, whereas Working Memory appeared as a relative weakness. Finally, with the exception of two subtests in the perceptual domain, we found no evidence for a general cognitive decline with age. |
publishDate |
2012 |
dc.date.none.fl_str_mv |
2012 2012-01-01T00:00:00Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://hdl.handle.net/1822/22358 |
url |
http://hdl.handle.net/1822/22358 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
1769-7212 10.1016/j.ejmg.2012.04.001 22579991 http://www.elsevier.com/locate/ejmg |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
Elsevier |
publisher.none.fl_str_mv |
Elsevier |
dc.source.none.fl_str_mv |
reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
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Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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RCAAP |
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RCAAP |
reponame_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
repository.mail.fl_str_mv |
mluisa.alvim@gmail.com |
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1817545354463150080 |