{"id":"https://openalex.org/W2943904336","doi":"https://doi.org/10.1080/09638288.2019.1610801","title":"Using directed-content analysis to identify a framework for understanding quality of life in adults with Rett syndrome","display_name":"Using directed-content analysis to identify a framework for understanding quality of life in adults with Rett syndrome","publication_year":2019,"publication_date":"2019-05-10","ids":{"openalex":"https://openalex.org/W2943904336","doi":"https://doi.org/10.1080/09638288.2019.1610801","mag":"2943904336","pmid":"https://pubmed.ncbi.nlm.nih.gov/31074665"},"language":"en","primary_location":{"id":"doi:10.1080/09638288.2019.1610801","doi":"https://doi.org/10.1080/09638288.2019.1610801","is_oa":false,"landing_page_url":"https://doi.org/10.1080/09638288.2019.1610801","pdf_url":null,"source":{"id":"https://openalex.org/S12843020","display_name":"Disability and Rehabilitation","issn_l":"0963-8288","issn":["0963-8288","1464-5165"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320449","host_organization_name":"Informa","host_organization_lineage":["https://openalex.org/P4310320449"],"host_organization_lineage_names":["Informa"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Disability and Rehabilitation","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://www.scopus.com/pages/publications/85065730710","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5007101938","display_name":"Aleisha Strugnell","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I205640436","display_name":"Curtin University","ror":"https://ror.org/02n415q13","country_code":"AU","type":"education","lineage":["https://openalex.org/I205640436"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Aleisha Strugnell","raw_affiliation_strings":["School of Physiotherapy and Exercise Science, Curtin University, Perth, Australia;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"School of Physiotherapy and Exercise Science, Curtin University, Perth, Australia;","institution_ids":["https://openalex.org/I205640436"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5062515759","display_name":"Helen Leonard","orcid":"https://orcid.org/0000-0001-6405-5834","observed_orcids":["https://orcid.org/0000-0001-6405-5834","https://orcid.org/0000-0002-3733-5678"]},"institutions":[{"id":"https://openalex.org/I175234967","display_name":"The Kids Research Institute Australia","ror":"https://ror.org/01dbmzx78","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I175234967"]},{"id":"https://openalex.org/I177877127","display_name":"The University of Western Australia","ror":"https://ror.org/047272k79","country_code":"AU","type":"education","lineage":["https://openalex.org/I177877127"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Helen Leonard","raw_affiliation_strings":["Telethon Kids Institute, The University of Western Australia, Nedlands, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Telethon Kids Institute, The University of Western Australia, Nedlands, Australia","institution_ids":["https://openalex.org/I175234967","https://openalex.org/I177877127"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5031819783","display_name":"Amy Epstein","orcid":"https://orcid.org/0000-0003-4441-0901","observed_orcids":["https://orcid.org/0000-0003-4441-0901"]},"institutions":[{"id":"https://openalex.org/I175234967","display_name":"The Kids Research Institute Australia","ror":"https://ror.org/01dbmzx78","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I175234967"]},{"id":"https://openalex.org/I177877127","display_name":"The University of Western Australia","ror":"https://ror.org/047272k79","country_code":"AU","type":"education","lineage":["https://openalex.org/I177877127"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Amy Epstein","raw_affiliation_strings":["Telethon Kids Institute, The University of Western Australia, Nedlands, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Telethon Kids Institute, The University of Western Australia, Nedlands, Australia","institution_ids":["https://openalex.org/I175234967","https://openalex.org/I177877127"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5045593878","display_name":"Jenny Anne Downs","orcid":"https://orcid.org/0000-0001-7358-9037","observed_orcids":["https://orcid.org/0000-0001-7358-9037"]},"institutions":[{"id":"https://openalex.org/I175234967","display_name":"The Kids Research Institute Australia","ror":"https://ror.org/01dbmzx78","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I175234967"]},{"id":"https://openalex.org/I177877127","display_name":"The University of Western Australia","ror":"https://ror.org/047272k79","country_code":"AU","type":"education","lineage":["https://openalex.org/I177877127"]},{"id":"https://openalex.org/I205640436","display_name":"Curtin University","ror":"https://ror.org/02n415q13","country_code":"AU","type":"education","lineage":["https://openalex.org/I205640436"]}],"countries":["AU"],"is_corresponding":true,"raw_author_name":"Jenny Downs","raw_affiliation_strings":["School of Physiotherapy and Exercise Science, Curtin University, Perth, Australia;","Telethon Kids Institute, The University of Western Australia, Nedlands, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"School of Physiotherapy and Exercise Science, Curtin University, Perth, Australia;","institution_ids":["https://openalex.org/I205640436"]},{"raw_affiliation_string":"Telethon Kids Institute, The University of Western Australia, Nedlands, Australia","institution_ids":["https://openalex.org/I175234967","https://openalex.org/I177877127"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5045593878"],"corresponding_institution_ids":["https://openalex.org/I175234967","https://openalex.org/I177877127","https://openalex.org/I205640436"],"apc_list":null,"apc_paid":null,"fwci":0.7441,"has_fulltext":false,"cited_by_count":15,"citation_normalized_percentile":{"value":0.68467627,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":98},"biblio":{"volume":"42","issue":"26","first_page":"3800","last_page":"3807"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.9980000257492065,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.9980000257492065,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11632","display_name":"Family and Disability Support Research","score":0.0012000000569969416,"subfield":{"id":"https://openalex.org/subfields/3203","display_name":"Clinical Psychology"},"field":{"id":"https://openalex.org/fields/32","display_name":"Psychology"},"domain":{"id":"https://openalex.org/domains/2","display_name":"Social Sciences"}},{"id":"https://openalex.org/T11015","display_name":"Down syndrome and intellectual disability research","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/2739","display_name":"Public Health, Environmental and Occupational Health"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/rett-syndrome","display_name":"Rett syndrome","score":1.0},{"id":"https://openalex.org/keywords/quality-of-life","display_name":"quality of life","score":0.9900000095367432},{"id":"https://openalex.org/keywords/mecp2-mutations","display_name":"MECP2 mutations","score":0.7919999957084656},{"id":"https://openalex.org/keywords/quality-of-life-domains","display_name":"quality of life domains","score":0.8180000185966492},{"id":"https://openalex.org/keywords/health-and-well-being","display_name":"health and well-being","score":0.6460000276565552},{"id":"https://openalex.org/keywords/daily-activities","display_name":"daily activities","score":0.8410000205039978},{"id":"https://openalex.org/keywords/community-immersion","display_name":"community immersion","score":0.6639999747276306},{"id":"https://openalex.org/keywords/support-services","display_name":"support services","score":0.5519999861717224},{"id":"https://openalex.org/keywords/parent-and-caregiver-perspectives","display_name":"parent and caregiver perspectives","score":0.6399999856948853},{"id":"https://openalex.org/keywords/neurodevelopmental-disorders","display_name":"neurodevelopmental disorders","score":0.6029999852180481},{"id":"https://openalex.org/keywords/quality-of-life-assessment","display_name":"quality of life assessment","score":0.75}],"concepts":[{"id":"https://openalex.org/C2777543196","wikidata":"https://www.wikidata.org/wiki/Q917357","display_name":"Rett syndrome","level":3,"score":0.887355387210846},{"id":"https://openalex.org/C2779951463","wikidata":"https://www.wikidata.org/wiki/Q7268788","display_name":"Quality of life (healthcare)","level":2,"score":0.657464325428009},{"id":"https://openalex.org/C15744967","wikidata":"https://www.wikidata.org/wiki/Q9418","display_name":"Psychology","level":0,"score":0.4771670401096344},{"id":"https://openalex.org/C74909509","wikidata":"https://www.wikidata.org/wiki/Q10387","display_name":"Gerontology","level":1,"score":0.47478196024894714},{"id":"https://openalex.org/C2779388368","wikidata":"https://www.wikidata.org/wiki/Q3450985","display_name":"Neurodevelopmental disorder","level":3,"score":0.44670426845550537},{"id":"https://openalex.org/C70410870","wikidata":"https://www.wikidata.org/wiki/Q199906","display_name":"Clinical psychology","level":1,"score":0.37283608317375183},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.362663209438324},{"id":"https://openalex.org/C138496976","wikidata":"https://www.wikidata.org/wiki/Q175002","display_name":"Developmental psychology","level":1,"score":0.3407225012779236},{"id":"https://openalex.org/C205778803","wikidata":"https://www.wikidata.org/wiki/Q38404","display_name":"Autism","level":2,"score":0.12787163257598877},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.0},{"id":"https://openalex.org/C542102704","wikidata":"https://www.wikidata.org/wiki/Q183257","display_name":"Psychotherapist","level":1,"score":0.0},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.0},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.0}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001315","descriptor_name":"Australia","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011788","descriptor_name":"Quality of Life","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D015518","descriptor_name":"Rett Syndrome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D017028","descriptor_name":"Caregivers","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D051783","descriptor_name":"Methyl-CpG-Binding Protein 2","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false}],"locations_count":4,"locations":[{"id":"doi:10.1080/09638288.2019.1610801","doi":"https://doi.org/10.1080/09638288.2019.1610801","is_oa":false,"landing_page_url":"https://doi.org/10.1080/09638288.2019.1610801","pdf_url":null,"source":{"id":"https://openalex.org/S12843020","display_name":"Disability and Rehabilitation","issn_l":"0963-8288","issn":["0963-8288","1464-5165"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320449","host_organization_name":"Informa","host_organization_lineage":["https://openalex.org/P4310320449"],"host_organization_lineage_names":["Informa"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Disability and Rehabilitation","raw_type":"journal-article"},{"id":"pmid:31074665","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/31074665","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Disability and rehabilitation","raw_type":"Journal Article"},{"id":"pmh:oai:espace.curtin.edu.au:20.500.11937/80098","doi":null,"is_oa":false,"landing_page_url":"http://hdl.handle.net/20.500.11937/80098","pdf_url":null,"source":{"id":"https://openalex.org/S4306401790","display_name":"eSpace (Curtin University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I205640436","host_organization_name":"Curtin University","host_organization_lineage":["https://openalex.org/I205640436"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Journal Article"},{"id":"pmh:oai:pure.atira.dk:openaire/ddb5cdd1-180f-4b0a-b463-1028edc60054","doi":null,"is_oa":true,"landing_page_url":"https://www.scopus.com/pages/publications/85065730710","pdf_url":null,"source":{"id":"https://openalex.org/S4306402492","display_name":"UWA Profiles and Research Repository (UWA)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I177877127","host_organization_name":"The University of Western Australia","host_organization_lineage":["https://openalex.org/I177877127"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Strugnell, A, Leonard, H, Epstein, A & Downs, J 2020, 'Using directed-content analysis to identify a framework for understanding quality of life in adults with Rett syndrome', Disability and Rehabilitation, vol. 42, no. 26, pp. 3800-3807. https://doi.org/10.1080/09638288.2019.1610801","raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":{"id":"pmh:oai:pure.atira.dk:openaire/ddb5cdd1-180f-4b0a-b463-1028edc60054","doi":null,"is_oa":true,"landing_page_url":"https://www.scopus.com/pages/publications/85065730710","pdf_url":null,"source":{"id":"https://openalex.org/S4306402492","display_name":"UWA Profiles and Research Repository (UWA)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I177877127","host_organization_name":"The University of Western Australia","host_organization_lineage":["https://openalex.org/I177877127"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Strugnell, A, Leonard, H, Epstein, A & Downs, J 2020, 'Using directed-content analysis to identify a framework for understanding quality of life in adults with Rett syndrome', Disability and Rehabilitation, vol. 42, no. 26, pp. 3800-3807. https://doi.org/10.1080/09638288.2019.1610801","raw_type":"info:eu-repo/semantics/article"},"sustainable_development_goals":[{"score":0.98580002784729,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G2223712811","display_name":"Investigating the burden for girls and their families in Rett syndrome, a severe neurological disorder","funder_award_id":"303189","funder_id":"https://openalex.org/F4320334705","funder_display_name":"National Health and Medical Research Council"},{"id":"https://openalex.org/G5237671710","display_name":"Towards evidence-based care in a rare disorder","funder_award_id":"1004384","funder_id":"https://openalex.org/F4320334705","funder_display_name":"National Health and Medical Research Council"}],"funders":[{"id":"https://openalex.org/F4320334705","display_name":"National Health and Medical Research Council","ror":"https://ror.org/011kf5r70"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":32,"referenced_works":["https://openalex.org/W3811691","https://openalex.org/W1559742681","https://openalex.org/W1575714269","https://openalex.org/W1968912676","https://openalex.org/W1985264354","https://openalex.org/W1986919569","https://openalex.org/W1995412621","https://openalex.org/W1998811535","https://openalex.org/W2031367254","https://openalex.org/W2044378812","https://openalex.org/W2064897206","https://openalex.org/W2083099818","https://openalex.org/W2099517884","https://openalex.org/W2100438136","https://openalex.org/W2111818224","https://openalex.org/W2119359416","https://openalex.org/W2124955353","https://openalex.org/W2134540539","https://openalex.org/W2142225512","https://openalex.org/W2145581312","https://openalex.org/W2154057943","https://openalex.org/W2171845442","https://openalex.org/W2179343330","https://openalex.org/W2194034651","https://openalex.org/W2278829076","https://openalex.org/W2559812869","https://openalex.org/W2579409834","https://openalex.org/W2609102064","https://openalex.org/W2737340892","https://openalex.org/W2766532281","https://openalex.org/W2889190232","https://openalex.org/W2900805725"],"related_works":["https://openalex.org/W2278829076","https://openalex.org/W7166043592","https://openalex.org/W2412291543","https://openalex.org/W2232638149","https://openalex.org/W4212906257","https://openalex.org/W2134602917","https://openalex.org/W2124955353","https://openalex.org/W7155882263","https://openalex.org/W2068533020","https://openalex.org/W2905084967"],"abstract_inverted_index":{"Purpose:":[0],"Rett":[1,85,257],"syndrome":[2],"(RTT)":[3],"is":[4,13,156],"a":[5,16,216],"rare":[6],"neurodevelopmental":[7],"disorder":[8],"mainly":[9],"affecting":[10],"females":[11],"and":[12,57,126,130,133,170,205,211,221,240],"caused":[14],"by":[15],"mutation":[17],"in":[18,53,146,234,254],"the":[19,25,83,137,147,157,196,243],"MECP2":[20],"gene.":[21],"Recent":[22],"research":[23],"identified":[24,63,139],"domains":[26,44,59,117,138,153,163,198],"of":[27,29,43,73,96,136,186,199,201,219,232,250,252],"quality":[28,200,231,251],"life":[30,97,202,233,253],"(QOL)":[31],"important":[32,45,164,197],"for":[33,46,64,118,140,165,191,229,247],"children":[34,119,141],"with":[35,55,60,82,120,142,150,167,256],"RTT":[36,56,121,143],"but":[37,177],"there":[38],"has":[39],"been":[40],"no":[41,151],"investigation":[42],"adults.":[47],"This":[48,155],"qualitative":[49],"study":[50,159],"explored":[51],"QOL":[52,116,162,189],"adults":[54,166,255],"compared":[58],"those":[61],"previously":[62],"children.Methods:":[65],"The":[66],"sample":[67],"comprised":[68],"parents":[69],"and/or":[70],"primary":[71],"caregivers":[72,226],"20":[74],"adults,":[75],"aged":[76],"18\u201338":[77],"years,":[78],"who":[79],"were":[80,91,99,107],"registered":[81],"Australian":[84],"Syndrome":[86],"Database.":[87],"Semi-structured":[88],"telephone":[89],"interviews":[90],"conducted":[92],"to":[93,101,124,160,208],"investigate":[94],"aspects":[95],"that":[98,122,236],"observed":[100],"be":[102,180],"satisfying":[103],"or":[104],"challenging.":[105],"Data":[106],"analyzed":[108],"using":[109],"directed":[110],"content":[111],"analysis,":[112],"based":[113],"on":[114],"existing":[115],"related":[123],"health":[125,241],"wellbeing,":[127],"daily":[128],"activities,":[129],"community":[131],"immersion":[132],"services.Results:":[134],"Each":[135],"was":[144],"represented":[145],"adult":[148],"dataset,":[149],"new":[152],"emerging.Conclusion:":[154],"first":[158],"identify":[161],"RTT.":[168],"Health":[169],"therapy":[171],"needs":[172],"are":[173,245],"ongoing":[174],"during":[175],"adulthood":[176],"services":[178],"may":[179],"limited.":[181],"Findings":[182],"will":[183],"guide":[184],"choice":[185],"an":[187],"appropriate":[188],"measure":[190],"this":[192],"group.IMPLICATIONS":[193],"FOR":[194],"REHABILITATIONKnowing":[195],"enables":[203],"clinicians":[204],"service":[206],"providers":[207],"systematically":[209],"review":[210],"address":[212],"key":[213],"management":[214],"issues.Despite":[215],"high":[217],"level":[218],"dependency":[220],"sometimes":[222],"poor":[223],"health,":[224],"parent":[225],"perceive":[227],"potential":[228],"strong":[230],"adulthood.Services":[235],"maintain":[237],"functional":[238],"skills":[239],"throughout":[242],"lifespan":[244],"valued":[246],"their":[248],"support":[249],"syndrome.":[258]},"counts_by_year":[{"year":2025,"cited_by_count":4},{"year":2024,"cited_by_count":3},{"year":2023,"cited_by_count":3},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":3}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2019-05-16T00:00:00"}