{"id":"https://openalex.org/W4285988048","doi":"https://doi.org/10.1007/s12325-022-02246-7","title":"Brain Abnormalities in PIK3CA-Related Overgrowth Spectrum: Physician, Patient, and Caregiver Experiences","display_name":"Brain Abnormalities in PIK3CA-Related Overgrowth Spectrum: Physician, Patient, and Caregiver Experiences","publication_year":2022,"publication_date":"2022-07-20","ids":{"openalex":"https://openalex.org/W4285988048","doi":"https://doi.org/10.1007/s12325-022-02246-7","pmid":"https://pubmed.ncbi.nlm.nih.gov/35857185","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/9297058"},"language":"en","primary_location":{"id":"doi:10.1007/s12325-022-02246-7","doi":"https://doi.org/10.1007/s12325-022-02246-7","is_oa":true,"landing_page_url":"https://doi.org/10.1007/s12325-022-02246-7","pdf_url":"https://link.springer.com/content/pdf/10.1007/s12325-022-02246-7.pdf","source":{"id":"https://openalex.org/S27230875","display_name":"Advances in Therapy","issn_l":"0741-238X","issn":["0741-238X","1865-8652"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320330","host_organization_name":"Adis, Springer Healthcare","host_organization_lineage":["https://openalex.org/P4310320330","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Adis, Springer Healthcare","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Advances in Therapy","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://link.springer.com/content/pdf/10.1007/s12325-022-02246-7.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5008284490","display_name":"Joy Dexheimer","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Joy Dexheimer","raw_affiliation_strings":["Caregiver, Brentwood, TN, USA","Caregiver, Brentwood, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Caregiver, Brentwood, TN, USA","institution_ids":[]},{"raw_affiliation_string":"Caregiver, Brentwood, USA","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5090823515","display_name":"Ghayda Mirzaa","orcid":"https://orcid.org/0000-0003-2648-7657","observed_orcids":["https://orcid.org/0000-0003-2648-7657"]},"institutions":[{"id":"https://openalex.org/I201448701","display_name":"University of Washington","ror":"https://ror.org/00cvxb145","country_code":"US","type":"education","lineage":["https://openalex.org/I201448701"]},{"id":"https://openalex.org/I4210135134","display_name":"Brotman Baty Institute","ror":"https://ror.org/03jxvbk42","country_code":"US","type":"facility","lineage":["https://openalex.org/I4210135134"]},{"id":"https://openalex.org/I4405262941","display_name":"Seattle Children's Research Institute","ror":"https://ror.org/00cz0md82","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1295499534","https://openalex.org/I4405262941"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Ghayda M. Mirzaa","raw_affiliation_strings":["Brotman Baty Institute for Precision Medicine, Seattle, WA, USA. Ghayda.Mirzaa@seattlechildrens.org","Center for Integrative Brain Research, Seattle Children's Research Institute, 1900 9th Avenue, Seattle, WA, 98101, USA. Ghayda.Mirzaa@seattlechildrens.org","Department of Pediatrics, University of Washington, Seattle, WA, USA. Ghayda.Mirzaa@seattlechildrens.org","Brotman Baty Institute for Precision Medicine, Seattle, USA","Center for Integrative Brain Research, Seattle Children\u2019s Research Institute, Seattle, USA","Department of Pediatrics, University of Washington, Seattle, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Brotman Baty Institute for Precision Medicine, Seattle, WA, USA. Ghayda.Mirzaa@seattlechildrens.org","institution_ids":["https://openalex.org/I4210135134"]},{"raw_affiliation_string":"Center for Integrative Brain Research, Seattle Children's Research Institute, 1900 9th Avenue, Seattle, WA, 98101, USA. Ghayda.Mirzaa@seattlechildrens.org","institution_ids":["https://openalex.org/I4405262941"]},{"raw_affiliation_string":"Department of Pediatrics, University of Washington, Seattle, WA, USA. Ghayda.Mirzaa@seattlechildrens.org","institution_ids":["https://openalex.org/I201448701"]},{"raw_affiliation_string":"Brotman Baty Institute for Precision Medicine, Seattle, USA","institution_ids":["https://openalex.org/I4210135134"]},{"raw_affiliation_string":"Center for Integrative Brain Research, Seattle Children\u2019s Research Institute, Seattle, USA","institution_ids":["https://openalex.org/I4405262941"]},{"raw_affiliation_string":"Department of Pediatrics, University of Washington, Seattle, USA","institution_ids":["https://openalex.org/I201448701"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5090823515"],"corresponding_institution_ids":["https://openalex.org/I201448701","https://openalex.org/I4210135134","https://openalex.org/I4405262941"],"apc_list":{"value":4190,"currency":"USD","value_usd":4190},"apc_paid":{"value":4190,"currency":"USD","value_usd":4190},"fwci":0.7159,"has_fulltext":true,"cited_by_count":3,"citation_normalized_percentile":{"value":0.67468583,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":96},"biblio":{"volume":"39","issue":"9","first_page":"3871","last_page":"3880"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10980","display_name":"Vascular Malformations and Hemangiomas","score":0.6807000041007996,"subfield":{"id":"https://openalex.org/subfields/2746","display_name":"Surgery"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10980","display_name":"Vascular Malformations and Hemangiomas","score":0.6807000041007996,"subfield":{"id":"https://openalex.org/subfields/2746","display_name":"Surgery"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T12049","display_name":"Tuberous Sclerosis Complex Research","score":0.07940000295639038,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T12355","display_name":"Genetic and rare skin diseases.","score":0.05510000139474869,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/pik3ca-related-overgrowth-spectrum","display_name":"PIK3CA-related overgrowth spectrum","score":0.9860000014305115},{"id":"https://openalex.org/keywords/pi3k-signaling","display_name":"PI3K signaling","score":0.8479999899864197},{"id":"https://openalex.org/keywords/central-nervous-system-involvement","display_name":"central nervous system involvement","score":0.847000002861023},{"id":"https://openalex.org/keywords/brain-abnormalities","display_name":"brain abnormalities","score":0.6230000257492065},{"id":"https://openalex.org/keywords/delayed-diagnosis","display_name":"delayed diagnosis","score":0.48100000619888306},{"id":"https://openalex.org/keywords/caregiver-experiences","display_name":"caregiver experiences","score":0.6779999732971191},{"id":"https://openalex.org/keywords/patient-experience","display_name":"patient experience","score":0.44600000977516174},{"id":"https://openalex.org/keywords/treatment-strategy","display_name":"treatment options","score":0.48100000619888306},{"id":"https://openalex.org/keywords/clinical-trials","display_name":"clinical trials","score":0.7450000047683716},{"id":"https://openalex.org/keywords/financial-burden","display_name":"financial burden","score":0.382999986410141},{"id":"https://openalex.org/keywords/emotional-impact","display_name":"emotional impact","score":0.3840000033378601}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.772120475769043},{"id":"https://openalex.org/C16568411","wikidata":"https://www.wikidata.org/wiki/Q83042","display_name":"Neurology","level":2,"score":0.5790724158287048},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.4784843325614929},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.4644710123538971},{"id":"https://openalex.org/C160735492","wikidata":"https://www.wikidata.org/wiki/Q31207","display_name":"Health care","level":2,"score":0.428339421749115},{"id":"https://openalex.org/C14216870","wikidata":"https://www.wikidata.org/wiki/Q3872","display_name":"Neuropsychology","level":3,"score":0.424099862575531},{"id":"https://openalex.org/C2777154362","wikidata":"https://www.wikidata.org/wiki/Q7575316","display_name":"Spectrum disorder","level":2,"score":0.42344197630882263},{"id":"https://openalex.org/C535046627","wikidata":"https://www.wikidata.org/wiki/Q30612","display_name":"Clinical trial","level":2,"score":0.41253963112831116},{"id":"https://openalex.org/C512399662","wikidata":"https://www.wikidata.org/wiki/Q3505712","display_name":"Family medicine","level":1,"score":0.3645678758621216},{"id":"https://openalex.org/C177713679","wikidata":"https://www.wikidata.org/wiki/Q679690","display_name":"Intensive care medicine","level":1,"score":0.3568806052207947},{"id":"https://openalex.org/C169900460","wikidata":"https://www.wikidata.org/wiki/Q2200417","display_name":"Cognition","level":2,"score":0.23658224940299988},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.17762219905853271},{"id":"https://openalex.org/C162324750","wikidata":"https://www.wikidata.org/wiki/Q8134","display_name":"Economics","level":0,"score":0.0},{"id":"https://openalex.org/C50522688","wikidata":"https://www.wikidata.org/wiki/Q189833","display_name":"Economic growth","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001921","descriptor_name":"Brain","qualifier_ui":"Q000002","qualifier_name":"abnormalities","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010716","descriptor_name":"Phosphatidylinositols","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010820","descriptor_name":"Physicians","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D013684","descriptor_name":"Telangiectasis","qualifier_ui":"Q000151","qualifier_name":"congenital","is_major_topic":false},{"descriptor_ui":"D017028","descriptor_name":"Caregivers","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D017445","descriptor_name":"Skin Diseases, Vascular","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D058534","descriptor_name":"Class I Phosphatidylinositol 3-Kinases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D058534","descriptor_name":"Class I Phosphatidylinositol 3-Kinases","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D058627","descriptor_name":"Megalencephaly","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1007/s12325-022-02246-7","doi":"https://doi.org/10.1007/s12325-022-02246-7","is_oa":true,"landing_page_url":"https://doi.org/10.1007/s12325-022-02246-7","pdf_url":"https://link.springer.com/content/pdf/10.1007/s12325-022-02246-7.pdf","source":{"id":"https://openalex.org/S27230875","display_name":"Advances in Therapy","issn_l":"0741-238X","issn":["0741-238X","1865-8652"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320330","host_organization_name":"Adis, Springer Healthcare","host_organization_lineage":["https://openalex.org/P4310320330","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Adis, Springer Healthcare","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Advances in Therapy","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:9297058","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/9297058","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Adv Ther","raw_type":"Text"},{"id":"pmid:35857185","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/35857185","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":"Advances in therapy","raw_type":"Journal Article"}],"best_oa_location":{"id":"doi:10.1007/s12325-022-02246-7","doi":"https://doi.org/10.1007/s12325-022-02246-7","is_oa":true,"landing_page_url":"https://doi.org/10.1007/s12325-022-02246-7","pdf_url":"https://link.springer.com/content/pdf/10.1007/s12325-022-02246-7.pdf","source":{"id":"https://openalex.org/S27230875","display_name":"Advances in Therapy","issn_l":"0741-238X","issn":["0741-238X","1865-8652"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320330","host_organization_name":"Adis, Springer Healthcare","host_organization_lineage":["https://openalex.org/P4310320330","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Adis, Springer Healthcare","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Advances in Therapy","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.98580002784729,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[{"id":"https://openalex.org/F4320310388","display_name":"Novartis Pharmaceuticals Corporation","ror":"https://ror.org/028fhxy95"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4285988048.pdf","grobid_xml":"https://content.openalex.org/works/W4285988048.grobid-xml"},"referenced_works_count":15,"referenced_works":["https://openalex.org/W1988673699","https://openalex.org/W2000566468","https://openalex.org/W2019071012","https://openalex.org/W2111043432","https://openalex.org/W2347029403","https://openalex.org/W2441806324","https://openalex.org/W2808211602","https://openalex.org/W2892878289","https://openalex.org/W2978418193","https://openalex.org/W3129572314","https://openalex.org/W3179366516","https://openalex.org/W3182404821","https://openalex.org/W3204429497","https://openalex.org/W3216585873","https://openalex.org/W4220662758"],"related_works":["https://openalex.org/W2999291539","https://openalex.org/W4413833286","https://openalex.org/W4229039455","https://openalex.org/W4280631171","https://openalex.org/W2792986099","https://openalex.org/W4225284447","https://openalex.org/W2897148641","https://openalex.org/W6940837354","https://openalex.org/W4415639498","https://openalex.org/W4318913757"],"abstract_inverted_index":{"PIK3CA-related":[0],"overgrowth":[1],"spectrum":[2,32],"(PROS)":[3],"disorders":[4,140],"are":[5],"caused":[6],"by":[7,75,123,132],"somatic,":[8],"gain-of-function":[9],"mutations":[10],"in":[11,20,39,138,157],"PIK3CA":[12],"(phosphatidylinositol-4,5-bisphosphate":[13],"3-kinase":[14],"catalytic":[15],"subunit":[16],"alpha)":[17],"that":[18,36],"result":[19],"hyperactivation":[21],"of":[22,33,59,151,154],"the":[23,63,106,120,124,149,155],"phosphatidylinositol-3-kinase":[24],"(PI3K)":[25],"signaling":[26],"pathway.":[27],"PROS":[28,64,139,160,191],"encompasses":[29],"a":[30,60,92,133],"broad":[31],"overlapping":[34],"phenotypes":[35],"vary":[37],"considerably":[38],"their":[40,55,113,168,193],"severity":[41],"and":[42,48,54,79,105,109,127,135,167,170,185,195],"tissue":[43],"distribution,":[44],"leading":[45],"to":[46,181,187],"different":[47],"complex":[49],"experiences":[50,83,184],"for":[51,202],"affected":[52],"children":[53],"families.":[56],"The":[57,146],"parent":[58],"child":[61,126],"with":[62,84,90,101,141,190,200,204],"disorder":[65],"megalencephaly-capillary":[66],"malformation":[67],"(MCAP)":[68],"coauthored":[69],"this":[70,85],"article.":[71],"MCAP":[72],"is":[73,130,180],"characterized":[74],"significant":[76],"neurological":[77],"involvement,":[78],"she":[80],"describes":[81],"personal":[82],"condition,":[86],"including":[87,174],"delays":[88],"associated":[89],"obtaining":[91],"correct":[93],"diagnosis,":[94],"finding":[95],"an":[96],"experienced":[97],"care":[98,197],"team,":[99],"challenges":[100,121,156],"schooling,":[102],"medical":[103],"complications,":[104,163],"ongoing":[107,175],"emotional":[108],"financial":[110],"impacts":[111],"on":[112],"lives.":[114],"A":[115],"physician":[116,147],"perspective,":[117],"which":[118],"reinforces":[119],"faced":[122],"young":[125],"his":[128],"family,":[129],"provided":[131],"clinician":[134],"researcher":[136],"specializing":[137],"central":[142],"nervous":[143],"system":[144],"involvement.":[145],"reviews":[148],"mechanism":[150],"disease,":[152],"some":[153],"accurately":[158],"diagnosing":[159],"conditions,":[161],"disease-related":[162],"current":[164],"treatment":[165],"options":[166,173],"limitations,":[169],"emerging":[171],"therapeutic":[172],"clinical":[176],"trials.":[177],"Our":[178],"objective":[179],"share":[182],"these":[183],"insights":[186],"benefit":[188],"patients":[189,203],"disorders,":[192],"families,":[194],"health":[196],"professionals":[198],"involved":[199],"caring":[201],"PROS.":[205]},"counts_by_year":[{"year":2025,"cited_by_count":2},{"year":2023,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2022-07-20T00:00:00"}