Publicação
Cognitive functioning in children and adults with Smith-Magenis syndrome
| 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. |
|---|---|
| Autores principais: | Osório, Ana Alexandra Caldas |
| Outros Autores: | Cruz, Raquel; Sampaio, Adriana; Garayzábal Heinze, Elena; Carracedo, Ángel; Férnandez-Prieto, Montserrat |
| Assunto: | Smith-Magenis syndrome Cognitive profile Neurodevelopment |
| Ano: | 2012 |
| País: | Portugal |
| Tipo de documento: | artigo |
| Tipo de acesso: | acesso aberto |
| Instituição associada: | Universidade do Minho |
| Idioma: | inglês |
| Origem: | RepositóriUM - Universidade do Minho |
| _version_ | 1867439811450634240 |
|---|---|
| author | Osório, Ana Alexandra Caldas |
| author2 | Cruz, Raquel Sampaio, Adriana Garayzábal Heinze, Elena Carracedo, Ángel Férnandez-Prieto, Montserrat |
| author2_role | author author author author author |
| author_facet | Osório, Ana Alexandra Caldas Cruz, Raquel Sampaio, Adriana Garayzábal Heinze, Elena Carracedo, Ángel Férnandez-Prieto, Montserrat |
| author_role | author |
| contributor_name_str_mv | RepositóriUM - Universidade do Minho |
| country_str | PT |
| creators_json_txt | [{\"Person.name\":\"Osório, Ana Alexandra Caldas\"},{\"Person.name\":\"Cruz, Raquel\"},{\"Person.name\":\"Sampaio, Adriana\"},{\"Person.name\":\"Garayzábal Heinze, Elena\"},{\"Person.name\":\"Carracedo, Ángel\"},{\"Person.name\":\"Férnandez-Prieto, Montserrat\"}] |
| datacite.contributors.contributor.contributorName.fl_str_mv | RepositóriUM - Universidade do Minho |
| datacite.creators.creator.creatorName.fl_str_mv | Osório, Ana Alexandra Caldas Cruz, Raquel Sampaio, Adriana Garayzábal Heinze, Elena Carracedo, Ángel Férnandez-Prieto, Montserrat |
| datacite.date.Accepted.fl_str_mv | 2012-01-01T00:00:00Z |
| datacite.date.available.fl_str_mv | 2013-01-08T11:28:59Z |
| datacite.date.embargoed.fl_str_mv | 2013-01-08T11:28:59Z |
| datacite.rights.fl_str_mv | http://purl.org/coar/access_right/c_abf2 |
| datacite.subjects.subject.fl_str_mv | Smith-Magenis syndrome Cognitive profile Neurodevelopment |
| datacite.titles.title.fl_str_mv | Cognitive functioning in children and adults with Smith-Magenis syndrome |
| dc.contributor.none.fl_str_mv | RepositóriUM - Universidade do Minho |
| dc.creator.none.fl_str_mv | Osório, Ana Alexandra Caldas Cruz, Raquel Sampaio, Adriana Garayzábal Heinze, Elena Carracedo, Ángel Férnandez-Prieto, Montserrat |
| dc.date.Accepted.fl_str_mv | 2012-01-01T00:00:00Z |
| dc.date.available.fl_str_mv | 2013-01-08T11:28:59Z |
| dc.date.embargoed.fl_str_mv | 2013-01-08T11:28:59Z |
| dc.format.none.fl_str_mv | application/pdf |
| dc.identifier.none.fl_str_mv | https://hdl.handle.net/1822/22358 |
| dc.language.none.fl_str_mv | eng |
| dc.publisher.none.fl_str_mv | Elsevier |
| dc.rights.none.fl_str_mv | http://purl.org/coar/access_right/c_abf2 |
| dc.subject.none.fl_str_mv | Smith-Magenis syndrome Cognitive profile Neurodevelopment |
| dc.title.fl_str_mv | Cognitive functioning in children and adults with Smith-Magenis syndrome |
| dc.type.none.fl_str_mv | http://purl.org/coar/resource_type/c_6501 |
| 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. |
| dirty | 0 |
| eu_rights_str_mv | openAccess |
| format | article |
| fulltext.url.fl_str_mv | https://repositorium.uminho.pt/bitstreams/aac6421e-ed27-4a1d-8a43-0df768d32fc8/download |
| id | rum_dfef8aa90ff95018fa2edfe6c26e61fc |
| identifier.url.fl_str_mv | https://hdl.handle.net/1822/22358 |
| instacron_str | repositorium |
| institution | Universidade do Minho |
| instname_str | Universidade do Minho |
| language | eng |
| network_acronym_str | rum |
| network_name_str | RepositóriUM - Universidade do Minho |
| oai_identifier_str | oai:repositorium.uminho.pt:1822/22358 |
| organization_str_mv | urn:organizationAcronym:repositorium |
| person_str_mv | Osório, Ana Alexandra Caldas Cruz, Raquel Sampaio, Adriana Garayzábal Heinze, Elena Carracedo, Ángel Férnandez-Prieto, Montserrat |
| publishDate | 2012 |
| publisher.none.fl_str_mv | Elsevier |
| reponame_str | RepositóriUM - Universidade do Minho |
| repository_id_str | urn:repositoryAcronym:rum |
| service_str_mv | urn:repositoryAcronym:rum |
| spelling | engElsevierporSmith-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.application/pdfporCognitive functioning in children and adults with Smith-Magenis syndromeOsório, Ana Alexandra CaldasCruz, RaquelSampaio, AdrianaGarayzábal Heinze, ElenaCarracedo, ÁngelFérnandez-Prieto, MontserratHostingInstitutionOrganizationalRepositóriUM - Universidade do Minhoe-mailmailto:repositorium@usdb.uminho.ptrepositorium@usdb.uminho.ptPMID22579991ISSNIsPartOf1769-7212DOIIsPartOf10.1016/j.ejmg.2012.04.0012013-01-08T11:28:59Z20122012-01-01T00:00:00ZHandlehttps://hdl.handle.net/1822/22358http://purl.org/coar/access_right/c_abf2open accessSmith-Magenis syndromeCognitive profileNeurodevelopment145264 bytesliteraturehttp://purl.org/coar/resource_type/c_6501journal articlehttp://purl.org/coar/access_right/c_abf2application/pdffulltexthttps://repositorium.uminho.pt/bitstreams/aac6421e-ed27-4a1d-8a43-0df768d32fc8/download |
| spellingShingle | Cognitive functioning in children and adults with Smith-Magenis syndrome Osório, Ana Alexandra Caldas Smith-Magenis syndrome Cognitive profile Neurodevelopment |
| status | SINGLETON |
| subject.fl_str_mv | Smith-Magenis syndrome Cognitive profile Neurodevelopment |
| title | 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_short | Cognitive functioning in children and adults with Smith-Magenis syndrome |
| title_sort | Cognitive functioning in children and adults with Smith-Magenis syndrome |
| topic | Smith-Magenis syndrome Cognitive profile Neurodevelopment |
| topic_facet | Smith-Magenis syndrome Cognitive profile Neurodevelopment |
| url | https://hdl.handle.net/1822/22358 |
| visible | 1 |