Development and behaviour in Marshall–Smith syndrome: an exploratory study of cognition, phenotype and autism
Identifieur interne : 002145 ( Istex/Corpus ); précédent : 002144; suivant : 002146Development and behaviour in Marshall–Smith syndrome: an exploratory study of cognition, phenotype and autism
Auteurs : I. D. C. Van Balkom ; A. Shaw ; P. J. Vuijk ; M. Franssens ; H. W. Hoek ; R. C. M. HennekamSource :
- Journal of Intellectual Disability Research [ 0964-2633 ] ; 2011-10.
Abstract
Background Marshall–Smith syndrome (MSS) is an infrequently described entity characterised by failure to thrive, developmental delay, abnormal bone maturation and a characteristic face. In studying the physical features of a group of patients, we noticed unusual behavioural traits. This urged us to study cognition, behavioural phenotype and autism in six patients.
Url:
DOI: 10.1111/j.1365-2788.2011.01451.x
Links to Exploration step
ISTEX:48D99B46B80B40826263FBFAFD4CF14B02CCFBF5Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Development and behaviour in Marshall–Smith syndrome: an exploratory study of cognition, phenotype and autism</title><author><name sortKey="Van Balkom, I D C" sort="Van Balkom, I D C" uniqKey="Van Balkom I" first="I. D. C." last="Van Balkom">I. D. C. Van Balkom</name><affiliation><mods:affiliation>Jonx Department of Youth Mental Health, Lentis Psychiatric Institute, Zuidlaren, the Netherlands</mods:affiliation></affiliation><affiliation><mods:affiliation>Rob Giel Research Center, Department of Psychiatry, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands</mods:affiliation></affiliation><affiliation><mods:affiliation>E-mail: idc.vanbalkom@lentis.nl</mods:affiliation></affiliation></author><author><name sortKey="Shaw, A" sort="Shaw, A" uniqKey="Shaw A" first="A." last="Shaw">A. Shaw</name><affiliation><mods:affiliation>Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, UK</mods:affiliation></affiliation></author><author><name sortKey="Vuijk, P J" sort="Vuijk, P J" uniqKey="Vuijk P" first="P. J." last="Vuijk">P. J. Vuijk</name><affiliation><mods:affiliation>Jonx Department of Youth Mental Health, Lentis Psychiatric Institute, Zuidlaren, the Netherlands</mods:affiliation></affiliation><affiliation><mods:affiliation>Clinical Neuropsychology, VU University, Amsterdam, the Netherlands</mods:affiliation></affiliation></author><author><name sortKey="Franssens, M" sort="Franssens, M" uniqKey="Franssens M" first="M." last="Franssens">M. Franssens</name><affiliation><mods:affiliation>Jonx Department of Youth Mental Health, Lentis Psychiatric Institute, Zuidlaren, the Netherlands</mods:affiliation></affiliation></author><author><name sortKey="Hoek, H W" sort="Hoek, H W" uniqKey="Hoek H" first="H. W." last="Hoek">H. W. Hoek</name><affiliation><mods:affiliation>Parnassia Bavo Psychiatric Institute, The Hague, the Netherlands</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Psychiatry, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, NY, USA</mods:affiliation></affiliation></author><author><name sortKey="Hennekam, R C M" sort="Hennekam, R C M" uniqKey="Hennekam R" first="R. C. M." last="Hennekam">R. C. M. Hennekam</name><affiliation><mods:affiliation>Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands</mods:affiliation></affiliation><affiliation><mods:affiliation>Institute of Neurology, University College London, London, UK</mods:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:48D99B46B80B40826263FBFAFD4CF14B02CCFBF5</idno><date when="2011" year="2011">2011</date><idno type="doi">10.1111/j.1365-2788.2011.01451.x</idno><idno type="url">https://api.istex.fr/document/48D99B46B80B40826263FBFAFD4CF14B02CCFBF5/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">002145</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">002145</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main">Development and behaviour in Marshall–Smith syndrome: an exploratory study of cognition, phenotype and autism</title><author><name sortKey="Van Balkom, I D C" sort="Van Balkom, I D C" uniqKey="Van Balkom I" first="I. D. C." last="Van Balkom">I. D. C. Van Balkom</name><affiliation><mods:affiliation>Jonx Department of Youth Mental Health, Lentis Psychiatric Institute, Zuidlaren, the Netherlands</mods:affiliation></affiliation><affiliation><mods:affiliation>Rob Giel Research Center, Department of Psychiatry, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands</mods:affiliation></affiliation><affiliation><mods:affiliation>E-mail: idc.vanbalkom@lentis.nl</mods:affiliation></affiliation></author><author><name sortKey="Shaw, A" sort="Shaw, A" uniqKey="Shaw A" first="A." last="Shaw">A. Shaw</name><affiliation><mods:affiliation>Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, UK</mods:affiliation></affiliation></author><author><name sortKey="Vuijk, P J" sort="Vuijk, P J" uniqKey="Vuijk P" first="P. J." last="Vuijk">P. J. Vuijk</name><affiliation><mods:affiliation>Jonx Department of Youth Mental Health, Lentis Psychiatric Institute, Zuidlaren, the Netherlands</mods:affiliation></affiliation><affiliation><mods:affiliation>Clinical Neuropsychology, VU University, Amsterdam, the Netherlands</mods:affiliation></affiliation></author><author><name sortKey="Franssens, M" sort="Franssens, M" uniqKey="Franssens M" first="M." last="Franssens">M. Franssens</name><affiliation><mods:affiliation>Jonx Department of Youth Mental Health, Lentis Psychiatric Institute, Zuidlaren, the Netherlands</mods:affiliation></affiliation></author><author><name sortKey="Hoek, H W" sort="Hoek, H W" uniqKey="Hoek H" first="H. W." last="Hoek">H. W. Hoek</name><affiliation><mods:affiliation>Parnassia Bavo Psychiatric Institute, The Hague, the Netherlands</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Psychiatry, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, NY, USA</mods:affiliation></affiliation></author><author><name sortKey="Hennekam, R C M" sort="Hennekam, R C M" uniqKey="Hennekam R" first="R. C. M." last="Hennekam">R. C. M. Hennekam</name><affiliation><mods:affiliation>Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands</mods:affiliation></affiliation><affiliation><mods:affiliation>Institute of Neurology, University College London, London, UK</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">Journal of Intellectual Disability Research</title><title level="j" type="alt">JOURNAL OF INTELLECTUAL DISABILITY RESEARCH</title><idno type="ISSN">0964-2633</idno><idno type="eISSN">1365-2788</idno><imprint><biblScope unit="vol">55</biblScope><biblScope unit="issue">10</biblScope><biblScope unit="page" from="973">973</biblScope><biblScope unit="page" to="987">987</biblScope><biblScope unit="page-count">15</biblScope><publisher>Blackwell Publishing Ltd</publisher><pubPlace>Oxford, UK</pubPlace><date type="published" when="2011-10">2011-10</date></imprint><idno type="ISSN">0964-2633</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0964-2633</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract">Background Marshall–Smith syndrome (MSS) is an infrequently described entity characterised by failure to thrive, developmental delay, abnormal bone maturation and a characteristic face. In studying the physical features of a group of patients, we noticed unusual behavioural traits. 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Journal of Intellectual Disability Research © 2011 Blackwell Publishing Ltd</licence></availability><date type="published" when="2011-10"></date></publicationStmt><notesStmt><note type="content-type" subtype="article" source="article" scheme="https://content-type.data.istex.fr/ark:/67375/XTP-6N5SZHKN-D">article</note><note type="publication-type" subtype="journal" scheme="https://publication-type.data.istex.fr/ark:/67375/JMC-0GLKJH51-B">journal</note></notesStmt><sourceDesc><biblStruct type="article"><analytic><title level="a" type="main">Development and behaviour in Marshall–Smith syndrome: an exploratory study of cognition, phenotype and autism</title><title level="a" type="short">Behaviour in Marshall–Smith syndrome</title><author xml:id="author-0000" role="corresp"><persName><forename type="first">I. D. C.</forename><surname>van Balkom</surname></persName><affiliation>Jonx Department of Youth Mental Health, Lentis Psychiatric Institute, Zuidlaren, the Netherlands<address><country key="NL"></country></address></affiliation><affiliation>Rob Giel Research Center, Department of Psychiatry, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands<address><country key="NL"></country></address></affiliation><affiliation>Dr Ingrid D.C. van Balkom, Jonx Department of Youth Mental Health, Lentis Psychiatric Institute, E35 Lagerhout, 9471 GP Zuidlaren, the Netherlands (e‐mail: idc.vanbalkom@lentis.nl).</affiliation></author><author xml:id="author-0001"><persName><forename type="first">A.</forename><surname>Shaw</surname></persName><affiliation>Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, UK<address><country key="GB"></country></address></affiliation></author><author xml:id="author-0002"><persName><forename type="first">P. J.</forename><surname>Vuijk</surname></persName><affiliation>Jonx Department of Youth Mental Health, Lentis Psychiatric Institute, Zuidlaren, the Netherlands<address><country key="NL"></country></address></affiliation><affiliation>Clinical Neuropsychology, VU University, Amsterdam, the Netherlands<address><country key="NL"></country></address></affiliation></author><author xml:id="author-0003"><persName><forename type="first">M.</forename><surname>Franssens</surname></persName><affiliation>Jonx Department of Youth Mental Health, Lentis Psychiatric Institute, Zuidlaren, the Netherlands<address><country key="NL"></country></address></affiliation></author><author xml:id="author-0004"><persName><forename type="first">H. W.</forename><surname>Hoek</surname></persName><affiliation>Parnassia Bavo Psychiatric Institute, The Hague, the Netherlands<address><country key="NL"></country></address></affiliation><affiliation>Department of Psychiatry, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands<address><country key="NL"></country></address></affiliation><affiliation>Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, NY, USA<address><country key="US"></country></address></affiliation></author><author xml:id="author-0005"><persName><forename type="first">R. C. M.</forename><surname>Hennekam</surname></persName><affiliation>Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands<address><country key="NL"></country></address></affiliation><affiliation>Institute of Neurology, University College London, London, UK<address><country key="GB"></country></address></affiliation></author><idno type="istex">48D99B46B80B40826263FBFAFD4CF14B02CCFBF5</idno><idno type="DOI">10.1111/j.1365-2788.2011.01451.x</idno><idno type="unit">JIR1451</idno><idno type="toTypesetVersion">file:JIR.JIR1451.pdf</idno></analytic><monogr><title level="j" type="main">Journal of Intellectual Disability Research</title><title level="j" type="alt">JOURNAL OF INTELLECTUAL DISABILITY RESEARCH</title><idno type="pISSN">0964-2633</idno><idno type="eISSN">1365-2788</idno><idno type="book-DOI">10.1111/(ISSN)1365-2788</idno><idno type="book-part-DOI">10.1111/jir.2011.55.issue-10</idno><idno type="product">JIR</idno><idno type="publisherDivision">ST</idno><imprint><biblScope unit="vol">55</biblScope><biblScope unit="issue">10</biblScope><biblScope unit="page" from="973">973</biblScope><biblScope unit="page" to="987">987</biblScope><biblScope unit="page-count">15</biblScope><publisher>Blackwell Publishing Ltd</publisher><pubPlace>Oxford, UK</pubPlace><date type="published" when="2011-10"></date></imprint></monogr></biblStruct></sourceDesc></fileDesc><profileDesc><abstract xml:lang="en" style="main"><head>Abstract</head><p><hi rend="bold">Background </hi> Marshall–Smith syndrome (MSS) is an infrequently described entity characterised by failure to thrive, developmental delay, abnormal bone maturation and a characteristic face. In studying the physical features of a group of patients, we noticed unusual behavioural traits. This urged us to study cognition, behavioural phenotype and autism in six patients.</p><p><hi rend="bold">Methods </hi> Information on development, behavioural characteristics, autism symptoms, and adaptive and psychological functioning of six MSS children was collected through in‐person examinations, questionnaires, semi‐structured interviews of parents and neuropsychological assessments.</p><p><hi rend="bold">Results </hi> Participants showed moderate to severe delays in mental age, motor development and adaptive functioning, with several similarities in communication, social interactions and behaviour. There was severe delay of speech and motor milestones, a friendly or happy demeanour and enjoyment of social interactions with familiar others. They exhibited minimal maladaptive behaviours. Deficits in communication and social interactions, lack of reciprocal social communication skills, limited imaginary play and the occurrence of stereotyped, repetitive behaviours were noted during assessments.</p><p><hi rend="bold">Conclusions </hi> Systematic collection of developmental and behavioural data in very rare entities such as MSS allows recognition of specific patterns in these qualities. Clinical recognition of physical,developmental and behavioural features is important not only for diagnosis, prognosis and counselling of families, but also increases our understanding of the biological basis of the human physical and behavioural phenotype.</p></abstract><textClass><keywords xml:lang="en"><term xml:id="k1">autism</term><term xml:id="k2">behavioural phenotype</term><term xml:id="k3">cognition</term><term xml:id="k4">intellectual disability</term><term xml:id="k5">Marshall–Smith syndrome</term></keywords><classCode scheme="tocHeading1">Part 2: Invited Review & Original Articles</classCode></textClass><langUsage><language ident="EN"></language></langUsage></profileDesc></teiHeader></istex:fulltextTEI><json:item><extension>txt</extension><original>false</original><mimetype>text/plain</mimetype><uri>https://api.istex.fr/document/48D99B46B80B40826263FBFAFD4CF14B02CCFBF5/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Wiley, elements deleted: body"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="yes"</istex:xmlDeclaration><istex:document><component version="2.0" type="serialArticle" xml:lang="en"><header><publicationMeta level="product"><publisherInfo><publisherName>Blackwell Publishing Ltd</publisherName><publisherLoc>Oxford, UK</publisherLoc></publisherInfo><doi origin="wiley" registered="yes">10.1111/(ISSN)1365-2788</doi><issn type="print">0964-2633</issn><issn type="electronic">1365-2788</issn><idGroup><id type="product" value="JIR"></id><id type="publisherDivision" value="ST"></id></idGroup><titleGroup><title type="main" sort="JOURNAL OF INTELLECTUAL DISABILITY RESEARCH">Journal of Intellectual Disability Research</title></titleGroup></publicationMeta><publicationMeta level="part" position="10110"><doi origin="wiley">10.1111/jir.2011.55.issue-10</doi><numberingGroup><numbering type="journalVolume" number="55">55</numbering><numbering type="journalIssue" number="10">10</numbering></numberingGroup><coverDate startDate="2011-10">October 2011</coverDate></publicationMeta><publicationMeta level="unit" type="article" position="5" status="forIssue"><doi origin="wiley">10.1111/j.1365-2788.2011.01451.x</doi><idGroup><id type="unit" value="JIR1451"></id></idGroup><countGroup><count type="pageTotal" number="15"></count></countGroup><titleGroup><title type="tocHeading1">Part 2: Invited Review & Original Articles</title></titleGroup><copyright>© 2011 The Authors. Journal of Intellectual Disability Research © 2011 Blackwell Publishing Ltd</copyright><eventGroup><event type="xmlConverted" agent="Converter:BPG_TO_WML3G version:2.10 mode:FullText" date="2011-09-23"></event><event type="publishedOnlineEarlyUnpaginated" date="2011-07-26"></event><event type="firstOnline" date="2011-07-26"></event><event type="publishedOnlineFinalForm" date="2011-09-23"></event><event type="xmlConverted" agent="Converter:WILEY_ML3G_TO_WILEY_ML3GV2 version:4.0.1" date="2014-03-20"></event><event type="xmlConverted" agent="Converter:WML3G_To_WML3G version:4.1.7 mode:FullText,remove_FC" date="2014-10-30"></event></eventGroup><numberingGroup><numbering type="pageFirst" number="973">973</numbering><numbering type="pageLast" number="987">987</numbering></numberingGroup><correspondenceTo>Dr Ingrid D.C. van Balkom, Jonx Department of Youth Mental Health, Lentis Psychiatric Institute, E35 Lagerhout, 9471 GP Zuidlaren, the Netherlands (e‐mail: <email>idc.vanbalkom@lentis.nl</email>).
</correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:JIR.JIR1451.pdf"></link></linkGroup></publicationMeta><contentMeta><unparsedEditorialHistory>Accepted 9 June 2011</unparsedEditorialHistory><countGroup><count type="figureTotal" number="3"></count><count type="tableTotal" number="2"></count><count type="formulaTotal" number="0"></count><count type="referenceTotal" number="75"></count><count type="wordTotal" number="8660"></count><count type="linksPubMed" number="0"></count><count type="linksCrossRef" number="0"></count></countGroup><titleGroup><title type="main">Development and behaviour in Marshall–Smith syndrome: an exploratory study of cognition, phenotype and autism</title><title type="shortAuthors">I. D. C. van Balkom <i>et al</i>.</title><title type="short"><b>Behaviour in Marshall–Smith syndrome</b></title></titleGroup><creators><creator creatorRole="author" xml:id="cr1" affiliationRef="#a1 #a2" corresponding="yes"><personName><givenNames>I. D. C.</givenNames><familyName>van Balkom</familyName></personName></creator><creator creatorRole="author" xml:id="cr2" affiliationRef="#a3"><personName><givenNames>A.</givenNames><familyName>Shaw</familyName></personName></creator><creator creatorRole="author" xml:id="cr3" affiliationRef="#a1 #a4"><personName><givenNames>P. J.</givenNames><familyName>Vuijk</familyName></personName></creator><creator creatorRole="author" xml:id="cr4" affiliationRef="#a1"><personName><givenNames>M.</givenNames><familyName>Franssens</familyName></personName></creator><creator creatorRole="author" xml:id="cr5" affiliationRef="#a5 #a6 #a7"><personName><givenNames>H. W.</givenNames><familyName>Hoek</familyName></personName></creator><creator creatorRole="author" xml:id="cr6" affiliationRef="#a8 #a9"><personName><givenNames>R. C. M.</givenNames><familyName>Hennekam</familyName></personName></creator></creators><affiliationGroup><affiliation xml:id="a1" countryCode="NL"><unparsedAffiliation>Jonx Department of Youth Mental Health, Lentis Psychiatric Institute, Zuidlaren, the Netherlands</unparsedAffiliation></affiliation><affiliation xml:id="a2" countryCode="NL"><unparsedAffiliation>Rob Giel Research Center, Department of Psychiatry, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands</unparsedAffiliation></affiliation><affiliation xml:id="a3" countryCode="GB"><unparsedAffiliation>Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, UK</unparsedAffiliation></affiliation><affiliation xml:id="a4" countryCode="NL"><unparsedAffiliation>Clinical Neuropsychology, VU University, Amsterdam, the Netherlands</unparsedAffiliation></affiliation><affiliation xml:id="a5" countryCode="NL"><unparsedAffiliation>Parnassia Bavo Psychiatric Institute, The Hague, the Netherlands</unparsedAffiliation></affiliation><affiliation xml:id="a6" countryCode="NL"><unparsedAffiliation>Department of Psychiatry, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands</unparsedAffiliation></affiliation><affiliation xml:id="a7" countryCode="US"><unparsedAffiliation>Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, NY, USA</unparsedAffiliation></affiliation><affiliation xml:id="a8" countryCode="NL"><unparsedAffiliation>Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands</unparsedAffiliation></affiliation><affiliation xml:id="a9" countryCode="GB"><unparsedAffiliation>Institute of Neurology, University College London, London, UK</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en"><keyword xml:id="k1">autism</keyword><keyword xml:id="k2">behavioural phenotype</keyword><keyword xml:id="k3">cognition</keyword><keyword xml:id="k4">intellectual disability</keyword><keyword xml:id="k5">Marshall–Smith syndrome</keyword></keywordGroup><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p><b>Background </b> Marshall–Smith syndrome (MSS) is an infrequently described entity characterised by failure to thrive, developmental delay, abnormal bone maturation and a characteristic face. In studying the physical features of a group of patients, we noticed unusual behavioural traits. This urged us to study cognition, behavioural phenotype and autism in six patients.</p><p><b>Methods </b> Information on development, behavioural characteristics, autism symptoms, and adaptive and psychological functioning of six MSS children was collected through in‐person examinations, questionnaires, semi‐structured interviews of parents and neuropsychological assessments.</p><p><b>Results </b> Participants showed moderate to severe delays in mental age, motor development and adaptive functioning, with several similarities in communication, social interactions and behaviour. There was severe delay of speech and motor milestones, a friendly or happy demeanour and enjoyment of social interactions with familiar others. They exhibited minimal maladaptive behaviours. Deficits in communication and social interactions, lack of reciprocal social communication skills, limited imaginary play and the occurrence of stereotyped, repetitive behaviours were noted during assessments.</p><p><b>Conclusions </b> Systematic collection of developmental and behavioural data in very rare entities such as MSS allows recognition of specific patterns in these qualities. Clinical recognition of physical,developmental and behavioural features is important not only for diagnosis, prognosis and counselling of families, but also increases our understanding of the biological basis of the human physical and behavioural phenotype.</p></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn1"><p>Conflict of interest: No conflicts of interest have been declared.</p></note></noteGroup></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Development and behaviour in Marshall–Smith syndrome: an exploratory study of cognition, phenotype and autism</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Behaviour in Marshall–Smith syndrome</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Development and behaviour in Marshall–Smith syndrome: an exploratory study of cognition, phenotype and autism</title></titleInfo><name type="personal"><namePart type="given">I. D. C.</namePart><namePart type="family">van Balkom</namePart><affiliation>Jonx Department of Youth Mental Health, Lentis Psychiatric Institute, Zuidlaren, the Netherlands</affiliation><affiliation>Rob Giel Research Center, Department of Psychiatry, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands</affiliation><affiliation>E-mail: idc.vanbalkom@lentis.nl</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">A.</namePart><namePart type="family">Shaw</namePart><affiliation>Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">P. J.</namePart><namePart type="family">Vuijk</namePart><affiliation>Jonx Department of Youth Mental Health, Lentis Psychiatric Institute, Zuidlaren, the Netherlands</affiliation><affiliation>Clinical Neuropsychology, VU University, Amsterdam, the Netherlands</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">M.</namePart><namePart type="family">Franssens</namePart><affiliation>Jonx Department of Youth Mental Health, Lentis Psychiatric Institute, Zuidlaren, the Netherlands</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">H. W.</namePart><namePart type="family">Hoek</namePart><affiliation>Parnassia Bavo Psychiatric Institute, The Hague, the Netherlands</affiliation><affiliation>Department of Psychiatry, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands</affiliation><affiliation>Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, NY, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">R. C. M.</namePart><namePart type="family">Hennekam</namePart><affiliation>Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands</affiliation><affiliation>Institute of Neurology, University College London, London, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="article" displayLabel="article"></genre><originInfo><publisher>Blackwell Publishing Ltd</publisher><place><placeTerm type="text">Oxford, UK</placeTerm></place><dateIssued encoding="w3cdtf">2011-10</dateIssued><edition>Accepted 9 June 2011</edition><copyrightDate encoding="w3cdtf">2011</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="figures">3</extent><extent unit="tables">2</extent><extent unit="references">75</extent><extent unit="words">8660</extent></physicalDescription><abstract>Background Marshall–Smith syndrome (MSS) is an infrequently described entity characterised by failure to thrive, developmental delay, abnormal bone maturation and a characteristic face. In studying the physical features of a group of patients, we noticed unusual behavioural traits. This urged us to study cognition, behavioural phenotype and autism in six patients.</abstract><abstract>Methods Information on development, behavioural characteristics, autism symptoms, and adaptive and psychological functioning of six MSS children was collected through in‐person examinations, questionnaires, semi‐structured interviews of parents and neuropsychological assessments.</abstract><abstract>Results Participants showed moderate to severe delays in mental age, motor development and adaptive functioning, with several similarities in communication, social interactions and behaviour. There was severe delay of speech and motor milestones, a friendly or happy demeanour and enjoyment of social interactions with familiar others. They exhibited minimal maladaptive behaviours. Deficits in communication and social interactions, lack of reciprocal social communication skills, limited imaginary play and the occurrence of stereotyped, repetitive behaviours were noted during assessments.</abstract><abstract>Conclusions Systematic collection of developmental and behavioural data in very rare entities such as MSS allows recognition of specific patterns in these qualities. Clinical recognition of physical,developmental and behavioural features is important not only for diagnosis, prognosis and counselling of families, but also increases our understanding of the biological basis of the human physical and behavioural phenotype.</abstract><subject lang="en"><genre>keywords</genre><topic>autism</topic><topic>behavioural phenotype</topic><topic>cognition</topic><topic>intellectual disability</topic><topic>Marshall–Smith syndrome</topic></subject><relatedItem type="host"><titleInfo><title>Journal of Intellectual Disability Research</title></titleInfo><genre type="journal">journal</genre><identifier type="ISSN">0964-2633</identifier><identifier type="eISSN">1365-2788</identifier><identifier type="DOI">10.1111/(ISSN)1365-2788</identifier><identifier type="PublisherID">JIR</identifier><part><date>2011</date><detail type="volume"><caption>vol.</caption><number>55</number></detail><detail type="issue"><caption>no.</caption><number>10</number></detail><extent unit="pages"><start>973</start><end>987</end><total>15</total></extent></part></relatedItem><identifier type="istex">48D99B46B80B40826263FBFAFD4CF14B02CCFBF5</identifier><identifier type="DOI">10.1111/j.1365-2788.2011.01451.x</identifier><identifier type="ArticleID">JIR1451</identifier><accessCondition type="use and reproduction" contentType="copyright">© 2011 The Authors. 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