Rett Syndrome: A suggested staging system for describing impairment profile with increasing age towards adolescence
A four‐stage construction is presented for illustrating the characteristic clinical pattern and profile over the years in the average, ‘classical’ Rett Syndrome (RS) patient. The staging system was applied and evaluated in the 29 Swedish RS cases who now have passed age 13 (median 18). We also discu...
Gespeichert in:
| Veröffentlicht in: | American journal of medical genetics 1986, Vol.25 (S1), p.47-59 |
|---|---|
| Hauptverfasser: | , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 59 |
|---|---|
| container_issue | S1 |
| container_start_page | 47 |
| container_title | American journal of medical genetics |
| container_volume | 25 |
| creator | Hagberg, Bengt Witt-Engerström, Ingegerd Opitz, John M. Reynolds, James F. |
| description | A four‐stage construction is presented for illustrating the characteristic clinical pattern and profile over the years in the average, ‘classical’ Rett Syndrome (RS) patient. The staging system was applied and evaluated in the 29 Swedish RS cases who now have passed age 13 (median 18). We also discuss the diagnostic pitfalls we have met and the conditions that need to be considered in the differential diagnosis. |
| doi_str_mv | 10.1002/ajmg.1320250506 |
| format | Article |
| fullrecord | <record><control><sourceid>istex_cross</sourceid><recordid>TN_cdi_crossref_primary_10_1002_ajmg_1320250506</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>ark_67375_WNG_95LRZPFG_1</sourcerecordid><originalsourceid>FETCH-LOGICAL-c4116-5a9cc6414cf96234393e2e8fdd6911e3574b291e6c1fd363cf2a632590207b993</originalsourceid><addsrcrecordid>eNqFkFtLwzAUx4MoOqfPPgn5AnW5tGmjT0N0KvOCFwRfQpqc1ujajqRj7tvb0aH45NPhXH5_OD-Ejig5oYSwkf6oyhPKGWEJSYjYQgNKpIgywbJtNCA0zqKUSbmH9kP4IIR2A7aLdjnJUkb4AIVHaFv8tKqtbyo4xWMcFmUJoQWLQ6tLV5c4rLq2wkXjsYVgvMvXU1fNtfMV1C2e-6ZwM8BL175jVxsPOqxPdAm4bZba24C1bWYdDLWBA7RT6FmAw00dopfLi-fzq2h6P7k-H08jE1MqokRLY0RMY1NIwXjMJQcGWWGtkJQCT9I4Z5KCMLSwXHBTMC04SyRhJM2l5EM06nONb0LwUKi5d5X2K0WJWttTa3vq115HHPfEfJFXYH_uN7q6_Vm_X3bvrv6LU-Ob28mf9KinXefz64fW_lOJlKeJer2bKJlMH98eLiddzjeUNI0i</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype></control><display><type>article</type><title>Rett Syndrome: A suggested staging system for describing impairment profile with increasing age towards adolescence</title><source>MEDLINE</source><source>Alma/SFX Local Collection</source><creator>Hagberg, Bengt ; Witt-Engerström, Ingegerd ; Opitz, John M. ; Reynolds, James F.</creator><creatorcontrib>Hagberg, Bengt ; Witt-Engerström, Ingegerd ; Opitz, John M. ; Reynolds, James F.</creatorcontrib><description>A four‐stage construction is presented for illustrating the characteristic clinical pattern and profile over the years in the average, ‘classical’ Rett Syndrome (RS) patient. The staging system was applied and evaluated in the 29 Swedish RS cases who now have passed age 13 (median 18). We also discuss the diagnostic pitfalls we have met and the conditions that need to be considered in the differential diagnosis.</description><identifier>ISSN: 0148-7299</identifier><identifier>ISSN: 1040-3787</identifier><identifier>EISSN: 1096-8628</identifier><identifier>DOI: 10.1002/ajmg.1320250506</identifier><identifier>PMID: 3087203</identifier><language>eng</language><publisher>New York: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Adolescent ; Child ; Child, Preschool ; Female ; Humans ; Intellectual Disability - diagnosis ; Intellectual Disability - physiopathology ; Intellectual Disability - psychology ; mental retardation ; Movement Disorders - diagnosis ; Movement Disorders - physiopathology ; Movement Disorders - psychology ; progressive encephalopathies ; Rett syndrome ; Stereotyped Behavior ; Syndrome</subject><ispartof>American journal of medical genetics, 1986, Vol.25 (S1), p.47-59</ispartof><rights>Copyright © 1986 Wiley‐Liss, Inc., A Wiley Company</rights><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4116-5a9cc6414cf96234393e2e8fdd6911e3574b291e6c1fd363cf2a632590207b993</citedby><cites>FETCH-LOGICAL-c4116-5a9cc6414cf96234393e2e8fdd6911e3574b291e6c1fd363cf2a632590207b993</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,4024,27923,27924,27925</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/3087203$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Hagberg, Bengt</creatorcontrib><creatorcontrib>Witt-Engerström, Ingegerd</creatorcontrib><creatorcontrib>Opitz, John M.</creatorcontrib><creatorcontrib>Reynolds, James F.</creatorcontrib><title>Rett Syndrome: A suggested staging system for describing impairment profile with increasing age towards adolescence</title><title>American journal of medical genetics</title><addtitle>Am. J. Med. Genet</addtitle><description>A four‐stage construction is presented for illustrating the characteristic clinical pattern and profile over the years in the average, ‘classical’ Rett Syndrome (RS) patient. The staging system was applied and evaluated in the 29 Swedish RS cases who now have passed age 13 (median 18). We also discuss the diagnostic pitfalls we have met and the conditions that need to be considered in the differential diagnosis.</description><subject>Adolescent</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Female</subject><subject>Humans</subject><subject>Intellectual Disability - diagnosis</subject><subject>Intellectual Disability - physiopathology</subject><subject>Intellectual Disability - psychology</subject><subject>mental retardation</subject><subject>Movement Disorders - diagnosis</subject><subject>Movement Disorders - physiopathology</subject><subject>Movement Disorders - psychology</subject><subject>progressive encephalopathies</subject><subject>Rett syndrome</subject><subject>Stereotyped Behavior</subject><subject>Syndrome</subject><issn>0148-7299</issn><issn>1040-3787</issn><issn>1096-8628</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1986</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkFtLwzAUx4MoOqfPPgn5AnW5tGmjT0N0KvOCFwRfQpqc1ujajqRj7tvb0aH45NPhXH5_OD-Ejig5oYSwkf6oyhPKGWEJSYjYQgNKpIgywbJtNCA0zqKUSbmH9kP4IIR2A7aLdjnJUkb4AIVHaFv8tKqtbyo4xWMcFmUJoQWLQ6tLV5c4rLq2wkXjsYVgvMvXU1fNtfMV1C2e-6ZwM8BL175jVxsPOqxPdAm4bZba24C1bWYdDLWBA7RT6FmAw00dopfLi-fzq2h6P7k-H08jE1MqokRLY0RMY1NIwXjMJQcGWWGtkJQCT9I4Z5KCMLSwXHBTMC04SyRhJM2l5EM06nONb0LwUKi5d5X2K0WJWttTa3vq115HHPfEfJFXYH_uN7q6_Vm_X3bvrv6LU-Ob28mf9KinXefz64fW_lOJlKeJer2bKJlMH98eLiddzjeUNI0i</recordid><startdate>1986</startdate><enddate>1986</enddate><creator>Hagberg, Bengt</creator><creator>Witt-Engerström, Ingegerd</creator><creator>Opitz, John M.</creator><creator>Reynolds, James F.</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><scope>BSCLL</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope></search><sort><creationdate>1986</creationdate><title>Rett Syndrome: A suggested staging system for describing impairment profile with increasing age towards adolescence</title><author>Hagberg, Bengt ; Witt-Engerström, Ingegerd ; Opitz, John M. ; Reynolds, James F.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4116-5a9cc6414cf96234393e2e8fdd6911e3574b291e6c1fd363cf2a632590207b993</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1986</creationdate><topic>Adolescent</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Female</topic><topic>Humans</topic><topic>Intellectual Disability - diagnosis</topic><topic>Intellectual Disability - physiopathology</topic><topic>Intellectual Disability - psychology</topic><topic>mental retardation</topic><topic>Movement Disorders - diagnosis</topic><topic>Movement Disorders - physiopathology</topic><topic>Movement Disorders - psychology</topic><topic>progressive encephalopathies</topic><topic>Rett syndrome</topic><topic>Stereotyped Behavior</topic><topic>Syndrome</topic><toplevel>online_resources</toplevel><creatorcontrib>Hagberg, Bengt</creatorcontrib><creatorcontrib>Witt-Engerström, Ingegerd</creatorcontrib><creatorcontrib>Opitz, John M.</creatorcontrib><creatorcontrib>Reynolds, James F.</creatorcontrib><collection>Istex</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><jtitle>American journal of medical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Hagberg, Bengt</au><au>Witt-Engerström, Ingegerd</au><au>Opitz, John M.</au><au>Reynolds, James F.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Rett Syndrome: A suggested staging system for describing impairment profile with increasing age towards adolescence</atitle><jtitle>American journal of medical genetics</jtitle><addtitle>Am. J. Med. Genet</addtitle><date>1986</date><risdate>1986</risdate><volume>25</volume><issue>S1</issue><spage>47</spage><epage>59</epage><pages>47-59</pages><issn>0148-7299</issn><issn>1040-3787</issn><eissn>1096-8628</eissn><abstract>A four‐stage construction is presented for illustrating the characteristic clinical pattern and profile over the years in the average, ‘classical’ Rett Syndrome (RS) patient. The staging system was applied and evaluated in the 29 Swedish RS cases who now have passed age 13 (median 18). We also discuss the diagnostic pitfalls we have met and the conditions that need to be considered in the differential diagnosis.</abstract><cop>New York</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>3087203</pmid><doi>10.1002/ajmg.1320250506</doi><tpages>13</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0148-7299 |
| ispartof | American journal of medical genetics, 1986, Vol.25 (S1), p.47-59 |
| issn | 0148-7299 1040-3787 1096-8628 |
| language | eng |
| recordid | cdi_crossref_primary_10_1002_ajmg_1320250506 |
| source | MEDLINE; Alma/SFX Local Collection |
| subjects | Adolescent Child Child, Preschool Female Humans Intellectual Disability - diagnosis Intellectual Disability - physiopathology Intellectual Disability - psychology mental retardation Movement Disorders - diagnosis Movement Disorders - physiopathology Movement Disorders - psychology progressive encephalopathies Rett syndrome Stereotyped Behavior Syndrome |
| title | Rett Syndrome: A suggested staging system for describing impairment profile with increasing age towards adolescence |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-04T18%3A21%3A38IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-istex_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Rett%20Syndrome:%20A%20suggested%20staging%20system%20for%20describing%20impairment%20profile%20with%20increasing%20age%20towards%20adolescence&rft.jtitle=American%20journal%20of%20medical%20genetics&rft.au=Hagberg,%20Bengt&rft.date=1986&rft.volume=25&rft.issue=S1&rft.spage=47&rft.epage=59&rft.pages=47-59&rft.issn=0148-7299&rft.eissn=1096-8628&rft_id=info:doi/10.1002/ajmg.1320250506&rft_dat=%3Cistex_cross%3Eark_67375_WNG_95LRZPFG_1%3C/istex_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_id=info:pmid/3087203&rfr_iscdi=true |