Rett syndrome—a review and discussion of syndrome delineation and syndrome definition
Identifieur interne : 000544 ( Istex/Corpus ); précédent : 000543; suivant : 000545Rett syndrome—a review and discussion of syndrome delineation and syndrome definition
Auteurs : John M. Opitz ; Susan O. LewinSource :
- Brain and Development [ 0387-7604 ] ; 1987.
English descriptors
- KwdEn :
Abstract
The current status of clinical genetic and pathogenetic knowledge in Rett syndrome is reviewed and updated. Some of the concepts which are highlighted include among others, causal homogeneity vs heterogeneity; the difficulty of dealing with potential variability while the possibility of heterogeneity still exists; progress in examining genetic hypotheses. We review our experience with 8 new patients, note the evidence for the presence of congenital hypotonia in all and several instances of minor anomalies and again raise the issue of whether girls with the Rett syndrome are in fact normal from the time of birth and in early infancy until the characteristic phenotype is recognizable. Previous recommendations for standardized international history, examination and investigation protocols are strongly reinforced, and the question as to who should study brains of Rett syndrome patients is raised by a parent. As is the case in most conditions now being studied by molecular geneticists, finding a marker will be a major etiologic breakthrough, but the work of delineating the pathogenesis will remain to be done.
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DOI: 10.1016/S0387-7604(87)80061-X
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<front><div type="abstract">The current status of clinical genetic and pathogenetic knowledge in Rett syndrome is reviewed and updated. Some of the concepts which are highlighted include among others, causal homogeneity vs heterogeneity; the difficulty of dealing with potential variability while the possibility of heterogeneity still exists; progress in examining genetic hypotheses. We review our experience with 8 new patients, note the evidence for the presence of congenital hypotonia in all and several instances of minor anomalies and again raise the issue of whether girls with the Rett syndrome are in fact normal from the time of birth and in early infancy until the characteristic phenotype is recognizable. Previous recommendations for standardized international history, examination and investigation protocols are strongly reinforced, and the question as to who should study brains of Rett syndrome patients is raised by a parent. As is the case in most conditions now being studied by molecular geneticists, finding a marker will be a major etiologic breakthrough, but the work of delineating the pathogenesis will remain to be done.</div>
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<head><ce:title>Rett syndrome—a review and discussion of syndrome delineation and syndrome definition</ce:title>
<ce:author-group><ce:author><ce:given-name>John M</ce:given-name>
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<ce:abstract id="ab1"><ce:abstract-sec><ce:simple-para id="SP0005">The current status of clinical genetic and pathogenetic knowledge in Rett syndrome is reviewed and updated. Some of the concepts which are highlighted include among others, causal homogeneity vs heterogeneity; the difficulty of dealing with potential variability while the possibility of heterogeneity still exists; progress in examining genetic hypotheses. We review our experience with 8 new patients, note the evidence for the presence of congenital hypotonia in all and several instances of minor anomalies and again raise the issue of whether girls with the Rett syndrome are in fact normal from the time of birth and in early infancy until the characteristic phenotype is recognizable. Previous recommendations for standardized international history, examination and investigation protocols are strongly reinforced, and the question as to who should study brains of Rett syndrome patients is raised by a parent. As is the case in most conditions now being studied by molecular geneticists, finding a marker will be a major etiologic breakthrough, but the work of delineating the pathogenesis will remain to be done.</ce:simple-para>
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<sb:title><sb:maintitle>Editorial comments: Rett syndrome: some comments of terminology and diagnosis</sb:maintitle>
</sb:title>
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<mods version="3.6"><titleInfo lang="en"><title>Rett syndrome—a review and discussion of syndrome delineation and syndrome definition</title>
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<titleInfo type="alternative" lang="en" contentType="CDATA"><title>Rett syndrome—a review and discussion of syndrome delineation and syndrome definition</title>
</titleInfo>
<name type="personal"><namePart type="given">John M</namePart>
<namePart type="family">Opitz</namePart>
<namePart type="termsOfAddress">MD</namePart>
<affiliation>Shodair Children's Hospital, Helena Montana (JMO, SOL)</affiliation>
<affiliation>Universities of Washington/Seattle and Wisconsin/Madison and Montana State University, Bozeman, Montana</affiliation>
<affiliation>Correspondence address: John M. Opitz, Shodair Children's Specialty Hospital, Box 5539, Helena, MT 59604, USA.</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Susan O</namePart>
<namePart type="family">Lewin</namePart>
<namePart type="termsOfAddress">MD</namePart>
<affiliation>Shodair Children's Hospital, Helena Montana (JMO, SOL)</affiliation>
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<copyrightDate encoding="w3cdtf">1987</copyrightDate>
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<abstract>The current status of clinical genetic and pathogenetic knowledge in Rett syndrome is reviewed and updated. Some of the concepts which are highlighted include among others, causal homogeneity vs heterogeneity; the difficulty of dealing with potential variability while the possibility of heterogeneity still exists; progress in examining genetic hypotheses. We review our experience with 8 new patients, note the evidence for the presence of congenital hypotonia in all and several instances of minor anomalies and again raise the issue of whether girls with the Rett syndrome are in fact normal from the time of birth and in early infancy until the characteristic phenotype is recognizable. Previous recommendations for standardized international history, examination and investigation protocols are strongly reinforced, and the question as to who should study brains of Rett syndrome patients is raised by a parent. As is the case in most conditions now being studied by molecular geneticists, finding a marker will be a major etiologic breakthrough, but the work of delineating the pathogenesis will remain to be done.</abstract>
<subject lang="en"><genre>Key words</genre>
<topic>Rett syndrome</topic>
<topic>review</topic>
<topic>genetic hypotheses</topic>
</subject>
<relatedItem type="host"><titleInfo><title>Brain and Development</title>
</titleInfo>
<titleInfo type="abbreviated"><title>BRADEV</title>
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<originInfo><dateIssued encoding="w3cdtf">1987</dateIssued>
</originInfo>
<identifier type="ISSN">0387-7604</identifier>
<identifier type="PII">S0387-7604(87)X8061-4</identifier>
<part><date>1987</date>
<detail type="volume"><number>9</number>
<caption>vol.</caption>
</detail>
<detail type="issue"><number>5</number>
<caption>no.</caption>
</detail>
<extent unit="issue pages"><start>445</start>
<end>563</end>
</extent>
<extent unit="pages"><start>445</start>
<end>450</end>
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<identifier type="DOI">10.1016/S0387-7604(87)80061-X</identifier>
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