Quality of life of patients with spinal muscular atrophy: A systematic review
To systematically review the literature of quality of life (QoL) of patients with spinal muscular atrophy (SMA), a rare, autosomal-recessive neuromuscular disease associated with extensive morbidity and elevated mortality. We searched Embase, Web of Science, and PubMed for full-text, English-languag...
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| Veröffentlicht in: | European journal of paediatric neurology 2019-05, Vol.23 (3), p.347-356 |
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| container_title | European journal of paediatric neurology |
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| creator | Landfeldt, Erik Edström, Josefin Sejersen, Thomas Tulinius, Már Lochmüller, Hanns Kirschner, Janbernd |
| description | To systematically review the literature of quality of life (QoL) of patients with spinal muscular atrophy (SMA), a rare, autosomal-recessive neuromuscular disease associated with extensive morbidity and elevated mortality.
We searched Embase, Web of Science, and PubMed for full-text, English-language articles (published between January 1, 2000 and July 31, 2018) reporting results from studies of QoL of patients with SMA. We excluded review and editorial articles, studies reporting results for samples comprising |
| doi_str_mv | 10.1016/j.ejpn.2019.03.004 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_swepu</sourceid><recordid>TN_cdi_swepub_primary_oai_swepub_ki_se_480641</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><els_id>S1090379819300030</els_id><sourcerecordid>2206229421</sourcerecordid><originalsourceid>FETCH-LOGICAL-c432t-5082d8fb2a37b69fac6278a4cc0bb0c07f85ae8060fbb406604cbe5f8cc5418e3</originalsourceid><addsrcrecordid>eNp9kU1v1DAQhi0EoqXwBzggH7kkjD_idRCXquJLKkJIcLYc77j1kmyCP1jtv8fRLj32NKPRM-_hfQh5zaBlwNS7XYu7Zd9yYH0LogWQT8gl6wRvOBPwtO7QQyM2vb4gL1LaAUAvuXpOLgT0qjL8knz7UewY8pHOno7B4zoXmwPuc6KHkO9pWsLejnQqyZXRRmpznJf743t6TdMxZZwq7WjEvwEPL8kzb8eEr87zivz69PHnzZfm9vvnrzfXt42TguemA8232g_cis2gem-d4httpXMwDOBg43VnUYMCPwwSlALpBuy8dq6TTKO4Is0pNx1wKYNZYphsPJrZBnM-_a4bGllDJHuUvyuLqae7svJcMwW68m9P_BLnPwVTNlNIDsfR7nEuyXAOivNa5hrNT6iLc0oR_UM4A7NqMjuzajKrJgPCVE316c05vwwTbh9e_nupwIcTgLXF2mw0yVUnDrchostmO4fH8v8BIRClIQ</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2206229421</pqid></control><display><type>article</type><title>Quality of life of patients with spinal muscular atrophy: A systematic review</title><source>MEDLINE</source><source>Elsevier ScienceDirect Journals Complete</source><creator>Landfeldt, Erik ; Edström, Josefin ; Sejersen, Thomas ; Tulinius, Már ; Lochmüller, Hanns ; Kirschner, Janbernd</creator><creatorcontrib>Landfeldt, Erik ; Edström, Josefin ; Sejersen, Thomas ; Tulinius, Már ; Lochmüller, Hanns ; Kirschner, Janbernd</creatorcontrib><description>To systematically review the literature of quality of life (QoL) of patients with spinal muscular atrophy (SMA), a rare, autosomal-recessive neuromuscular disease associated with extensive morbidity and elevated mortality.
We searched Embase, Web of Science, and PubMed for full-text, English-language articles (published between January 1, 2000 and July 31, 2018) reporting results from studies of QoL of patients with SMA. We excluded review and editorial articles, studies reporting results for samples comprising <5 patients (to allow for meaningful inference), and case reports/qualitative assessments.
Of 824 identified articles, 15 met study criteria. Included publications contained data derived from samples from a total of 11 countries and three continents (Europe, North America, and South America). Estimates of the latent trait, primarily derived using the Pediatric Quality of Life Inventory (PedsQL) 4.0 Generic Core Scales and the PedsQL 3.0 Neuromuscular Module, indicated impairment in patient QoL, in particular physical functioning. However, both patient self- and caregiver proxy-assessments varied markedly across studies and subgroups. Among adult individuals, the mean self-assessed EuroQol-5D-3L utility has been estimated at 0.16 for a pooled sample of patients with SMA type I, II, and III, and −0.01 for SMA type II. Little is known of the impact of available treatments, including nusinersen, on patient QoL.
Our review show that QoL is impaired in SMA, mainly due to compromised physical health, but also reveal that little is known of the impact of the disease across different phenotypes and clinical interventions.
•Quality of life (QoL) is impaired in patients with spinal muscular atrophy (SMA).•SMA appears to primarily impact physical domains of QoL.•Yet, estimates of QoL in SMA vary markedly across study populations and phenotypes.•Little is known regarding how QoL in SMA is modified by available treatments.</description><identifier>ISSN: 1090-3798</identifier><identifier>EISSN: 1532-2130</identifier><identifier>DOI: 10.1016/j.ejpn.2019.03.004</identifier><identifier>PMID: 30962132</identifier><language>eng</language><publisher>England: Elsevier Ltd</publisher><subject>Child ; Decision making ; Europe ; Health policy ; Humans ; Muscular Atrophy, Spinal ; Neurologi ; Neurology ; Neuromuscular diseases ; Pediatrics ; Pediatrik ; Quality of Life ; SMA</subject><ispartof>European journal of paediatric neurology, 2019-05, Vol.23 (3), p.347-356</ispartof><rights>2019 European Paediatric Neurology Society</rights><rights>Copyright © 2019 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c432t-5082d8fb2a37b69fac6278a4cc0bb0c07f85ae8060fbb406604cbe5f8cc5418e3</citedby><cites>FETCH-LOGICAL-c432t-5082d8fb2a37b69fac6278a4cc0bb0c07f85ae8060fbb406604cbe5f8cc5418e3</cites><orcidid>0000-0002-5758-7151</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S1090379819300030$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>230,314,776,780,881,3537,27901,27902,65306</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/30962132$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink><backlink>$$Uhttps://gup.ub.gu.se/publication/281608$$DView record from Swedish Publication Index$$Hfree_for_read</backlink><backlink>$$Uhttp://kipublications.ki.se/Default.aspx?queryparsed=id:141181880$$DView record from Swedish Publication Index$$Hfree_for_read</backlink></links><search><creatorcontrib>Landfeldt, Erik</creatorcontrib><creatorcontrib>Edström, Josefin</creatorcontrib><creatorcontrib>Sejersen, Thomas</creatorcontrib><creatorcontrib>Tulinius, Már</creatorcontrib><creatorcontrib>Lochmüller, Hanns</creatorcontrib><creatorcontrib>Kirschner, Janbernd</creatorcontrib><title>Quality of life of patients with spinal muscular atrophy: A systematic review</title><title>European journal of paediatric neurology</title><addtitle>Eur J Paediatr Neurol</addtitle><description>To systematically review the literature of quality of life (QoL) of patients with spinal muscular atrophy (SMA), a rare, autosomal-recessive neuromuscular disease associated with extensive morbidity and elevated mortality.
We searched Embase, Web of Science, and PubMed for full-text, English-language articles (published between January 1, 2000 and July 31, 2018) reporting results from studies of QoL of patients with SMA. We excluded review and editorial articles, studies reporting results for samples comprising <5 patients (to allow for meaningful inference), and case reports/qualitative assessments.
Of 824 identified articles, 15 met study criteria. Included publications contained data derived from samples from a total of 11 countries and three continents (Europe, North America, and South America). Estimates of the latent trait, primarily derived using the Pediatric Quality of Life Inventory (PedsQL) 4.0 Generic Core Scales and the PedsQL 3.0 Neuromuscular Module, indicated impairment in patient QoL, in particular physical functioning. However, both patient self- and caregiver proxy-assessments varied markedly across studies and subgroups. Among adult individuals, the mean self-assessed EuroQol-5D-3L utility has been estimated at 0.16 for a pooled sample of patients with SMA type I, II, and III, and −0.01 for SMA type II. Little is known of the impact of available treatments, including nusinersen, on patient QoL.
Our review show that QoL is impaired in SMA, mainly due to compromised physical health, but also reveal that little is known of the impact of the disease across different phenotypes and clinical interventions.
•Quality of life (QoL) is impaired in patients with spinal muscular atrophy (SMA).•SMA appears to primarily impact physical domains of QoL.•Yet, estimates of QoL in SMA vary markedly across study populations and phenotypes.•Little is known regarding how QoL in SMA is modified by available treatments.</description><subject>Child</subject><subject>Decision making</subject><subject>Europe</subject><subject>Health policy</subject><subject>Humans</subject><subject>Muscular Atrophy, Spinal</subject><subject>Neurologi</subject><subject>Neurology</subject><subject>Neuromuscular diseases</subject><subject>Pediatrics</subject><subject>Pediatrik</subject><subject>Quality of Life</subject><subject>SMA</subject><issn>1090-3798</issn><issn>1532-2130</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2019</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kU1v1DAQhi0EoqXwBzggH7kkjD_idRCXquJLKkJIcLYc77j1kmyCP1jtv8fRLj32NKPRM-_hfQh5zaBlwNS7XYu7Zd9yYH0LogWQT8gl6wRvOBPwtO7QQyM2vb4gL1LaAUAvuXpOLgT0qjL8knz7UewY8pHOno7B4zoXmwPuc6KHkO9pWsLejnQqyZXRRmpznJf743t6TdMxZZwq7WjEvwEPL8kzb8eEr87zivz69PHnzZfm9vvnrzfXt42TguemA8232g_cis2gem-d4httpXMwDOBg43VnUYMCPwwSlALpBuy8dq6TTKO4Is0pNx1wKYNZYphsPJrZBnM-_a4bGllDJHuUvyuLqae7svJcMwW68m9P_BLnPwVTNlNIDsfR7nEuyXAOivNa5hrNT6iLc0oR_UM4A7NqMjuzajKrJgPCVE316c05vwwTbh9e_nupwIcTgLXF2mw0yVUnDrchostmO4fH8v8BIRClIQ</recordid><startdate>20190501</startdate><enddate>20190501</enddate><creator>Landfeldt, Erik</creator><creator>Edström, Josefin</creator><creator>Sejersen, Thomas</creator><creator>Tulinius, Már</creator><creator>Lochmüller, Hanns</creator><creator>Kirschner, Janbernd</creator><general>Elsevier Ltd</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>7X8</scope><scope>ADTPV</scope><scope>AOWAS</scope><scope>F1U</scope><orcidid>https://orcid.org/0000-0002-5758-7151</orcidid></search><sort><creationdate>20190501</creationdate><title>Quality of life of patients with spinal muscular atrophy: A systematic review</title><author>Landfeldt, Erik ; Edström, Josefin ; Sejersen, Thomas ; Tulinius, Már ; Lochmüller, Hanns ; Kirschner, Janbernd</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c432t-5082d8fb2a37b69fac6278a4cc0bb0c07f85ae8060fbb406604cbe5f8cc5418e3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2019</creationdate><topic>Child</topic><topic>Decision making</topic><topic>Europe</topic><topic>Health policy</topic><topic>Humans</topic><topic>Muscular Atrophy, Spinal</topic><topic>Neurologi</topic><topic>Neurology</topic><topic>Neuromuscular diseases</topic><topic>Pediatrics</topic><topic>Pediatrik</topic><topic>Quality of Life</topic><topic>SMA</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Landfeldt, Erik</creatorcontrib><creatorcontrib>Edström, Josefin</creatorcontrib><creatorcontrib>Sejersen, Thomas</creatorcontrib><creatorcontrib>Tulinius, Már</creatorcontrib><creatorcontrib>Lochmüller, Hanns</creatorcontrib><creatorcontrib>Kirschner, Janbernd</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><collection>SwePub</collection><collection>SwePub Articles</collection><collection>SWEPUB Göteborgs universitet</collection><jtitle>European journal of paediatric neurology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Landfeldt, Erik</au><au>Edström, Josefin</au><au>Sejersen, Thomas</au><au>Tulinius, Már</au><au>Lochmüller, Hanns</au><au>Kirschner, Janbernd</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Quality of life of patients with spinal muscular atrophy: A systematic review</atitle><jtitle>European journal of paediatric neurology</jtitle><addtitle>Eur J Paediatr Neurol</addtitle><date>2019-05-01</date><risdate>2019</risdate><volume>23</volume><issue>3</issue><spage>347</spage><epage>356</epage><pages>347-356</pages><issn>1090-3798</issn><eissn>1532-2130</eissn><abstract>To systematically review the literature of quality of life (QoL) of patients with spinal muscular atrophy (SMA), a rare, autosomal-recessive neuromuscular disease associated with extensive morbidity and elevated mortality.
We searched Embase, Web of Science, and PubMed for full-text, English-language articles (published between January 1, 2000 and July 31, 2018) reporting results from studies of QoL of patients with SMA. We excluded review and editorial articles, studies reporting results for samples comprising <5 patients (to allow for meaningful inference), and case reports/qualitative assessments.
Of 824 identified articles, 15 met study criteria. Included publications contained data derived from samples from a total of 11 countries and three continents (Europe, North America, and South America). Estimates of the latent trait, primarily derived using the Pediatric Quality of Life Inventory (PedsQL) 4.0 Generic Core Scales and the PedsQL 3.0 Neuromuscular Module, indicated impairment in patient QoL, in particular physical functioning. However, both patient self- and caregiver proxy-assessments varied markedly across studies and subgroups. Among adult individuals, the mean self-assessed EuroQol-5D-3L utility has been estimated at 0.16 for a pooled sample of patients with SMA type I, II, and III, and −0.01 for SMA type II. Little is known of the impact of available treatments, including nusinersen, on patient QoL.
Our review show that QoL is impaired in SMA, mainly due to compromised physical health, but also reveal that little is known of the impact of the disease across different phenotypes and clinical interventions.
•Quality of life (QoL) is impaired in patients with spinal muscular atrophy (SMA).•SMA appears to primarily impact physical domains of QoL.•Yet, estimates of QoL in SMA vary markedly across study populations and phenotypes.•Little is known regarding how QoL in SMA is modified by available treatments.</abstract><cop>England</cop><pub>Elsevier Ltd</pub><pmid>30962132</pmid><doi>10.1016/j.ejpn.2019.03.004</doi><tpages>10</tpages><orcidid>https://orcid.org/0000-0002-5758-7151</orcidid></addata></record> |
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| source | MEDLINE; Elsevier ScienceDirect Journals Complete |
| subjects | Child Decision making Europe Health policy Humans Muscular Atrophy, Spinal Neurologi Neurology Neuromuscular diseases Pediatrics Pediatrik Quality of Life SMA |
| title | Quality of life of patients with spinal muscular atrophy: A systematic review |
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