Cognitive functioning of adults with Noonan syndrome: a case–control study
A lowered mental speed and relatively intact functioning in other domains characterizes the cognitive profile of adult patients with Noonan Syndrome. Noonan syndrome (NS) is a genetic disorder characterised by short stature, facial dysmorphia, congenital heart defects and mildly lowered intellectual...
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| Veröffentlicht in: | Genes, brain and behavior brain and behavior, 2012-10, Vol.11 (7), p.785-793 |
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| creator | Wingbermühle, E. Roelofs, R. L. Burgt, I. Souren, P. M. Verhoeven, W. M. A. Kessels, R. P. C. Egger, J. I. M. |
| description | A lowered mental speed and relatively intact functioning in other domains characterizes the cognitive profile of adult patients with Noonan Syndrome.
Noonan syndrome (NS) is a genetic disorder characterised by short stature, facial dysmorphia, congenital heart defects and mildly lowered intellectual abilities. Research has mainly focused on genetic and somatic aspects, while intellectual and cognitive functioning has been documented scarcely. Also, to date studies have been primarily performed in children. This is the first study in which functioning within the major cognitive domains is systematically evaluated in a group of adults with NS and compared with a control group. Extensive neuropsychological assessment, including the domains intelligence, speed of information processing, memory (working memory, immediate recall and delayed recall), executive function and visuoconstruction, was performed in a sample of 42 patients with NS and 42 healthy controls, matched on age, sex and education level. In addition, subjective cognitive complaints were assessed with self‐report questionnaires. On the domain speed of information processing patients performed worse than controls (P |
| doi_str_mv | 10.1111/j.1601-183X.2012.00821.x |
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Noonan syndrome (NS) is a genetic disorder characterised by short stature, facial dysmorphia, congenital heart defects and mildly lowered intellectual abilities. Research has mainly focused on genetic and somatic aspects, while intellectual and cognitive functioning has been documented scarcely. Also, to date studies have been primarily performed in children. This is the first study in which functioning within the major cognitive domains is systematically evaluated in a group of adults with NS and compared with a control group. Extensive neuropsychological assessment, including the domains intelligence, speed of information processing, memory (working memory, immediate recall and delayed recall), executive function and visuoconstruction, was performed in a sample of 42 patients with NS and 42 healthy controls, matched on age, sex and education level. In addition, subjective cognitive complaints were assessed with self‐report questionnaires. On the domain speed of information processing patients performed worse than controls (P < 0.05). Furthermore, except for slightly better results on delayed recall in the patients with NS (P < 0.05), none of the other cognitive domains showed between‐group differences. On the questionnaires, patients reported substantially more complaints about their own cognitive abilities than controls (P < 0.05). A lowered speed of information processing and relatively intact functioning in other cognitive domains characterises the cognitive profile of adult patients, in contrast to previous findings in children with NS, who seem to have more generalised cognitive deficits.</description><identifier>ISSN: 1601-1848</identifier><identifier>EISSN: 1601-183X</identifier><identifier>DOI: 10.1111/j.1601-183X.2012.00821.x</identifier><identifier>PMID: 22783933</identifier><identifier>CODEN: GBBEAO</identifier><language>eng</language><publisher>Oxford, UK: Blackwell Publishing Ltd</publisher><subject>Adolescent ; Adult ; Case-Control Studies ; Cognition ; Cognition & reasoning ; Cognitive ability ; Executive Function ; Female ; genetic syndromes ; Humans ; Intelligence - genetics ; Male ; Memory ; Middle Aged ; neuropsychological phenotype ; Noonan syndrome ; Noonan Syndrome - psychology ; Ras‐MAPK pathway ; wellbeing</subject><ispartof>Genes, brain and behavior, 2012-10, Vol.11 (7), p.785-793</ispartof><rights>2012 The Authors. Genes, Brain and Behavior © 2012 Blackwell Publishing Ltd and International Behavioural and Neural Genetics Society</rights><rights>2012 The Authors. Genes, Brain and Behavior © 2012 Blackwell Publishing Ltd and International Behavioural and Neural Genetics Society.</rights><rights>Genes, Brain and Behavior © 2012 Blackwell Publishing Ltd and International Behavioural and Neural Genetics Society</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3961-a541f0fbdf57317a4055de225e534f2c6dc32c9cccb61d92839f906e8784b93d3</citedby><cites>FETCH-LOGICAL-c3961-a541f0fbdf57317a4055de225e534f2c6dc32c9cccb61d92839f906e8784b93d3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1111%2Fj.1601-183X.2012.00821.x$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Fj.1601-183X.2012.00821.x$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1417,11562,27924,27925,45574,45575,46052,46476</link.rule.ids><linktorsrc>$$Uhttps://onlinelibrary.wiley.com/doi/abs/10.1111%2Fj.1601-183X.2012.00821.x$$EView_record_in_Wiley-Blackwell$$FView_record_in_$$GWiley-Blackwell</linktorsrc><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/22783933$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Wingbermühle, E.</creatorcontrib><creatorcontrib>Roelofs, R. L.</creatorcontrib><creatorcontrib>Burgt, I.</creatorcontrib><creatorcontrib>Souren, P. M.</creatorcontrib><creatorcontrib>Verhoeven, W. M. A.</creatorcontrib><creatorcontrib>Kessels, R. P. C.</creatorcontrib><creatorcontrib>Egger, J. I. M.</creatorcontrib><title>Cognitive functioning of adults with Noonan syndrome: a case–control study</title><title>Genes, brain and behavior</title><addtitle>Genes Brain Behav</addtitle><description>A lowered mental speed and relatively intact functioning in other domains characterizes the cognitive profile of adult patients with Noonan Syndrome.
Noonan syndrome (NS) is a genetic disorder characterised by short stature, facial dysmorphia, congenital heart defects and mildly lowered intellectual abilities. Research has mainly focused on genetic and somatic aspects, while intellectual and cognitive functioning has been documented scarcely. Also, to date studies have been primarily performed in children. This is the first study in which functioning within the major cognitive domains is systematically evaluated in a group of adults with NS and compared with a control group. Extensive neuropsychological assessment, including the domains intelligence, speed of information processing, memory (working memory, immediate recall and delayed recall), executive function and visuoconstruction, was performed in a sample of 42 patients with NS and 42 healthy controls, matched on age, sex and education level. In addition, subjective cognitive complaints were assessed with self‐report questionnaires. On the domain speed of information processing patients performed worse than controls (P < 0.05). Furthermore, except for slightly better results on delayed recall in the patients with NS (P < 0.05), none of the other cognitive domains showed between‐group differences. On the questionnaires, patients reported substantially more complaints about their own cognitive abilities than controls (P < 0.05). A lowered speed of information processing and relatively intact functioning in other cognitive domains characterises the cognitive profile of adult patients, in contrast to previous findings in children with NS, who seem to have more generalised cognitive deficits.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Case-Control Studies</subject><subject>Cognition</subject><subject>Cognition & reasoning</subject><subject>Cognitive ability</subject><subject>Executive Function</subject><subject>Female</subject><subject>genetic syndromes</subject><subject>Humans</subject><subject>Intelligence - genetics</subject><subject>Male</subject><subject>Memory</subject><subject>Middle Aged</subject><subject>neuropsychological phenotype</subject><subject>Noonan syndrome</subject><subject>Noonan Syndrome - psychology</subject><subject>Ras‐MAPK pathway</subject><subject>wellbeing</subject><issn>1601-1848</issn><issn>1601-183X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2012</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkLtOwzAUhi0EoqXwCsgSC0uCL7kiFlpBQapgAYnNcnwpiVK7xAltN96BN-RJcGnpwIQXH8nf-f3rAwBiFGJ_LqoQJwgHOKMvIUGYhAhlBIfLPdDfPezv5ijrgSPnKoRwSjN8CHqEpBnNKe2DychOTdmW7wrqzoi2tKY0U2g15LKrWwcXZfsKH6w13EC3MrKxM3UJORTcqa-PT2FN29gauraTq2NwoHnt1Mn2HoDn25un0V0weRzfj64ngaB5ggMeR1gjXUgdpxSnPEJxLBUhsYpppIlIpKBE5EKIIsEyJ76qzlGisjSLipxKOgDnm9x5Y9865Vo2K51Qdc2Nsp1jGOVxQiOCUo-e_UEr2zXGt2OYksgXiEjuqWxDicY61yjN5k05483KR7G1cVaxtUy2FsvWxtmPcbb0q6fbD7pipuRu8VexB642wKKs1erfwWw8HPqBfgM6PY82</recordid><startdate>201210</startdate><enddate>201210</enddate><creator>Wingbermühle, E.</creator><creator>Roelofs, R. L.</creator><creator>Burgt, I.</creator><creator>Souren, P. M.</creator><creator>Verhoeven, W. M. A.</creator><creator>Kessels, R. P. C.</creator><creator>Egger, J. I. M.</creator><general>Blackwell Publishing Ltd</general><general>John Wiley & Sons, Inc</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7QG</scope><scope>7TK</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>201210</creationdate><title>Cognitive functioning of adults with Noonan syndrome: a case–control study</title><author>Wingbermühle, E. ; Roelofs, R. L. ; Burgt, I. ; Souren, P. M. ; Verhoeven, W. M. A. ; Kessels, R. P. C. ; Egger, J. I. M.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3961-a541f0fbdf57317a4055de225e534f2c6dc32c9cccb61d92839f906e8784b93d3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2012</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Case-Control Studies</topic><topic>Cognition</topic><topic>Cognition & reasoning</topic><topic>Cognitive ability</topic><topic>Executive Function</topic><topic>Female</topic><topic>genetic syndromes</topic><topic>Humans</topic><topic>Intelligence - genetics</topic><topic>Male</topic><topic>Memory</topic><topic>Middle Aged</topic><topic>neuropsychological phenotype</topic><topic>Noonan syndrome</topic><topic>Noonan Syndrome - psychology</topic><topic>Ras‐MAPK pathway</topic><topic>wellbeing</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Wingbermühle, E.</creatorcontrib><creatorcontrib>Roelofs, R. L.</creatorcontrib><creatorcontrib>Burgt, I.</creatorcontrib><creatorcontrib>Souren, P. M.</creatorcontrib><creatorcontrib>Verhoeven, W. M. A.</creatorcontrib><creatorcontrib>Kessels, R. P. C.</creatorcontrib><creatorcontrib>Egger, J. I. M.</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Animal Behavior Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Genes, brain and behavior</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext_linktorsrc</fulltext></delivery><addata><au>Wingbermühle, E.</au><au>Roelofs, R. L.</au><au>Burgt, I.</au><au>Souren, P. M.</au><au>Verhoeven, W. M. A.</au><au>Kessels, R. P. C.</au><au>Egger, J. I. M.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Cognitive functioning of adults with Noonan syndrome: a case–control study</atitle><jtitle>Genes, brain and behavior</jtitle><addtitle>Genes Brain Behav</addtitle><date>2012-10</date><risdate>2012</risdate><volume>11</volume><issue>7</issue><spage>785</spage><epage>793</epage><pages>785-793</pages><issn>1601-1848</issn><eissn>1601-183X</eissn><coden>GBBEAO</coden><abstract>A lowered mental speed and relatively intact functioning in other domains characterizes the cognitive profile of adult patients with Noonan Syndrome.
Noonan syndrome (NS) is a genetic disorder characterised by short stature, facial dysmorphia, congenital heart defects and mildly lowered intellectual abilities. Research has mainly focused on genetic and somatic aspects, while intellectual and cognitive functioning has been documented scarcely. Also, to date studies have been primarily performed in children. This is the first study in which functioning within the major cognitive domains is systematically evaluated in a group of adults with NS and compared with a control group. Extensive neuropsychological assessment, including the domains intelligence, speed of information processing, memory (working memory, immediate recall and delayed recall), executive function and visuoconstruction, was performed in a sample of 42 patients with NS and 42 healthy controls, matched on age, sex and education level. In addition, subjective cognitive complaints were assessed with self‐report questionnaires. On the domain speed of information processing patients performed worse than controls (P < 0.05). Furthermore, except for slightly better results on delayed recall in the patients with NS (P < 0.05), none of the other cognitive domains showed between‐group differences. On the questionnaires, patients reported substantially more complaints about their own cognitive abilities than controls (P < 0.05). A lowered speed of information processing and relatively intact functioning in other cognitive domains characterises the cognitive profile of adult patients, in contrast to previous findings in children with NS, who seem to have more generalised cognitive deficits.</abstract><cop>Oxford, UK</cop><pub>Blackwell Publishing Ltd</pub><pmid>22783933</pmid><doi>10.1111/j.1601-183X.2012.00821.x</doi><tpages>9</tpages></addata></record> |
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| subjects | Adolescent Adult Case-Control Studies Cognition Cognition & reasoning Cognitive ability Executive Function Female genetic syndromes Humans Intelligence - genetics Male Memory Middle Aged neuropsychological phenotype Noonan syndrome Noonan Syndrome - psychology Ras‐MAPK pathway wellbeing |
| title | Cognitive functioning of adults with Noonan syndrome: a case–control study |
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