MovDisordV3, PubMed, Corpus, bibRecord, 002497

Abnormal movements in Rett syndrome are present before the regression period: a case study.

Identifieur interne : 002497 ( PubMed/Corpus ); précédent : 002496; suivant : 002498

Abnormal movements in Rett syndrome are present before the regression period: a case study.

Auteurs : Teresa Temudo ; Patricia Maciel ; Jorge Sequeiros

Source :

Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2007.

RBID : pubmed:17914728

English descriptors

KwdEn :
- Female, Humans, Infant, Methyl-CpG-Binding Protein 2 (genetics), Movement Disorders (diagnosis), Movement Disorders (etiology), Movement Disorders (genetics), Rett Syndrome (complications), Rett Syndrome (diagnosis), Rett Syndrome (genetics), Videotape Recording.
MESH :
- chemical , genetics : Methyl-CpG-Binding Protein 2.
- complications : Rett Syndrome.
- diagnosis : Movement Disorders, Rett Syndrome.
- etiology : Movement Disorders.
- genetics : Movement Disorders, Rett Syndrome.
- Female, Humans, Infant, Videotape Recording.

Abstract

The suspicion of a diagnosis of Rett syndrome (RTT) is based on clinical criteria that are often not present in the first two stages of the disease, as many of its symptoms will appear at a later age. This sometimes postpones the genetic diagnosis and an early clinical intervention. We present the case of 19-months-old girl who came to the consultation because of an arrest of psychomotor development noticed 5 months earlier without change in sleep pattern, behavior, or social communication. In the observation of 1 hour videotape, she presented subtle stereotypic movements of the face and hands as well as repetitive dystonic posturing of her limbs. A genetic test confirmed the diagnosis of RTT, showing a truncating mutation in the MECP2 gene (R270X). This case confirms that stereotypic movement anomalies, albeit infrequent and subtle, are already present before the regression stage and while maintaining prehension and that, in addition, repetitive dystonic postures may occur. Recognition of these early movement disorders will improve clinicians' ability to perform an earlier diagnosis of RTT.

DOI: 10.1002/mds.21744
PubMed: 17914728

Links to Exploration step

pubmed:17914728

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Abnormal movements in Rett syndrome are present before the regression period: a case study.</title>
<author><name sortKey="Temudo, Teresa" sort="Temudo, Teresa" uniqKey="Temudo T" first="Teresa" last="Temudo">Teresa Temudo</name>
<affiliation><nlm:affiliation>Unidade de Neuropediatria, Serviço de Pediatria, Hospital Geral de Santo António, Porto, Portugal. teresatemudo@netcabo.pt</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Maciel, Patricia" sort="Maciel, Patricia" uniqKey="Maciel P" first="Patricia" last="Maciel">Patricia Maciel</name>
</author>
<author><name sortKey="Sequeiros, Jorge" sort="Sequeiros, Jorge" uniqKey="Sequeiros J" first="Jorge" last="Sequeiros">Jorge Sequeiros</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PubMed</idno>
<date when="2007">2007</date>
<idno type="doi">10.1002/mds.21744</idno>
<idno type="RBID">pubmed:17914728</idno>
<idno type="pmid">17914728</idno>
<idno type="wicri:Area/PubMed/Corpus">002497</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en">Abnormal movements in Rett syndrome are present before the regression period: a case study.</title>
<author><name sortKey="Temudo, Teresa" sort="Temudo, Teresa" uniqKey="Temudo T" first="Teresa" last="Temudo">Teresa Temudo</name>
<affiliation><nlm:affiliation>Unidade de Neuropediatria, Serviço de Pediatria, Hospital Geral de Santo António, Porto, Portugal. teresatemudo@netcabo.pt</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Maciel, Patricia" sort="Maciel, Patricia" uniqKey="Maciel P" first="Patricia" last="Maciel">Patricia Maciel</name>
</author>
<author><name sortKey="Sequeiros, Jorge" sort="Sequeiros, Jorge" uniqKey="Sequeiros J" first="Jorge" last="Sequeiros">Jorge Sequeiros</name>
</author>
</analytic>
<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
<idno type="ISSN">0885-3185</idno>
<imprint><date when="2007" type="published">2007</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Female</term>
<term>Humans</term>
<term>Infant</term>
<term>Methyl-CpG-Binding Protein 2 (genetics)</term>
<term>Movement Disorders (diagnosis)</term>
<term>Movement Disorders (etiology)</term>
<term>Movement Disorders (genetics)</term>
<term>Rett Syndrome (complications)</term>
<term>Rett Syndrome (diagnosis)</term>
<term>Rett Syndrome (genetics)</term>
<term>Videotape Recording</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Methyl-CpG-Binding Protein 2</term>
</keywords>
<keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Rett Syndrome</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Movement Disorders</term>
<term>Rett Syndrome</term>
</keywords>
<keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Movement Disorders</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Movement Disorders</term>
<term>Rett Syndrome</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Female</term>
<term>Humans</term>
<term>Infant</term>
<term>Videotape Recording</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">The suspicion of a diagnosis of Rett syndrome (RTT) is based on clinical criteria that are often not present in the first two stages of the disease, as many of its symptoms will appear at a later age. This sometimes postpones the genetic diagnosis and an early clinical intervention. We present the case of 19-months-old girl who came to the consultation because of an arrest of psychomotor development noticed 5 months earlier without change in sleep pattern, behavior, or social communication. In the observation of 1 hour videotape, she presented subtle stereotypic movements of the face and hands as well as repetitive dystonic posturing of her limbs. A genetic test confirmed the diagnosis of RTT, showing a truncating mutation in the MECP2 gene (R270X). This case confirms that stereotypic movement anomalies, albeit infrequent and subtle, are already present before the regression stage and while maintaining prehension and that, in addition, repetitive dystonic postures may occur. Recognition of these early movement disorders will improve clinicians' ability to perform an earlier diagnosis of RTT.</div>
</front>
</TEI>
<pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">17914728</PMID>
<DateCreated><Year>2007</Year>
<Month>12</Month>
<Day>06</Day>
</DateCreated>
<DateCompleted><Year>2008</Year>
<Month>01</Month>
<Day>31</Day>
</DateCompleted>
<Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN>
<JournalIssue CitedMedium="Print"><Volume>22</Volume>
<Issue>15</Issue>
<PubDate><Year>2007</Year>
<Month>Nov</Month>
<Day>15</Day>
</PubDate>
</JournalIssue>
<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
<ISOAbbreviation>Mov. Disord.</ISOAbbreviation>
</Journal>
<ArticleTitle>Abnormal movements in Rett syndrome are present before the regression period: a case study.</ArticleTitle>
<Pagination><MedlinePgn>2284-7</MedlinePgn>
</Pagination>
<Abstract><AbstractText>The suspicion of a diagnosis of Rett syndrome (RTT) is based on clinical criteria that are often not present in the first two stages of the disease, as many of its symptoms will appear at a later age. This sometimes postpones the genetic diagnosis and an early clinical intervention. We present the case of 19-months-old girl who came to the consultation because of an arrest of psychomotor development noticed 5 months earlier without change in sleep pattern, behavior, or social communication. In the observation of 1 hour videotape, she presented subtle stereotypic movements of the face and hands as well as repetitive dystonic posturing of her limbs. A genetic test confirmed the diagnosis of RTT, showing a truncating mutation in the MECP2 gene (R270X). This case confirms that stereotypic movement anomalies, albeit infrequent and subtle, are already present before the regression stage and while maintaining prehension and that, in addition, repetitive dystonic postures may occur. Recognition of these early movement disorders will improve clinicians' ability to perform an earlier diagnosis of RTT.</AbstractText>
<CopyrightInformation>(c) 2007 Movement Disorder Society.</CopyrightInformation>
</Abstract>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Temudo</LastName>
<ForeName>Teresa</ForeName>
<Initials>T</Initials>
<AffiliationInfo><Affiliation>Unidade de Neuropediatria, Serviço de Pediatria, Hospital Geral de Santo António, Porto, Portugal. teresatemudo@netcabo.pt</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Maciel</LastName>
<ForeName>Patricia</ForeName>
<Initials>P</Initials>
</Author>
<Author ValidYN="Y"><LastName>Sequeiros</LastName>
<ForeName>Jorge</ForeName>
<Initials>J</Initials>
</Author>
</AuthorList>
<Language>eng</Language>
<PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType>
<PublicationType UI="D016428">Journal Article</PublicationType>
</PublicationTypeList>
</Article>
<MedlineJournalInfo><Country>United States</Country>
<MedlineTA>Mov Disord</MedlineTA>
<NlmUniqueID>8610688</NlmUniqueID>
<ISSNLinking>0885-3185</ISSNLinking>
</MedlineJournalInfo>
<ChemicalList><Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="C497392">MECP2 protein, human</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="D051783">Methyl-CpG-Binding Protein 2</NameOfSubstance>
</Chemical>
</ChemicalList>
<CitationSubset>IM</CitationSubset>
<MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D007223">Infant</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D051783">Methyl-CpG-Binding Protein 2</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D009069">Movement Disorders</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000175">diagnosis</QualifierName>
<QualifierName MajorTopicYN="Y" UI="Q000209">etiology</QualifierName>
<QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D015518">Rett Syndrome</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000150">complications</QualifierName>
<QualifierName MajorTopicYN="Y" UI="Q000175">diagnosis</QualifierName>
<QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D014743">Videotape Recording</DescriptorName>
</MeshHeading>
</MeshHeadingList>
</MedlineCitation>
<PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2007</Year>
<Month>10</Month>
<Day>5</Day>
<Hour>9</Hour>
<Minute>0</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="medline"><Year>2008</Year>
<Month>2</Month>
<Day>1</Day>
<Hour>9</Hour>
<Minute>0</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="entrez"><Year>2007</Year>
<Month>10</Month>
<Day>5</Day>
<Hour>9</Hour>
<Minute>0</Minute>
</PubMedPubDate>
</History>
<PublicationStatus>ppublish</PublicationStatus>
<ArticleIdList><ArticleId IdType="doi">10.1002/mds.21744</ArticleId>
<ArticleId IdType="pubmed">17914728</ArticleId>
</ArticleIdList>
</PubmedData>
</pubmed>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/PubMed/Corpus

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 002497 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/PubMed/Corpus/biblio.hfd -nk 002497 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Santé
   |area=    MovDisordV3
   |flux=    PubMed
   |étape=   Corpus
   |type=    RBID
   |clé=     pubmed:17914728
   |texte=   Abnormal movements in Rett syndrome are present before the regression period: a case study.
}}

Pour générer des pages wiki

HfdIndexSelect -h $EXPLOR_AREA/Data/PubMed/Corpus/RBID.i   -Sk "pubmed:17914728" \
       | HfdSelect -Kh $EXPLOR_AREA/Data/PubMed/Corpus/biblio.hfd   \
       | NlmPubMed2Wicri -a MovDisordV3

This area was generated with Dilib version V0.6.23.
Data generation: Sun Jul 3 12:29:32 2016. Site generation: Wed Feb 14 10:52:30 2024

	Movement Disorders (revue)
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.

Movement Disorders (revue)

Abnormal movements in Rett syndrome are present before the regression period: a case study.

Abnormal movements in Rett syndrome are present before the regression period: a case study.

Source :

English descriptors

Abstract

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki