{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T10:41:58Z","timestamp":1777804918775,"version":"3.51.4"},"reference-count":64,"publisher":"SAGE Publications","issue":"7","license":[{"start":{"date-parts":[[2025,5,22]],"date-time":"2025-05-22T00:00:00Z","timestamp":1747872000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["U01NS106845"],"award-info":[{"award-number":["U01NS106845"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["U54NS115052"],"award-info":[{"award-number":["U54NS115052"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"name":"CURE Pennsylvania"},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["K23NS114113"],"award-info":[{"award-number":["K23NS114113"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2025,8]]},"abstract":"<jats:p>Aicardi Gouti\u00e8res syndrome is a type I interferonopathy that results in a spectrum of neurologic impairment. In general, neurodegenerative disorders of childhood strongly affect the quality of life and perspective of the whole caregiver network. This article aims to define the impact of Aicardi Gouti\u00e8res syndrome on affected individuals and families through a multimethod approach using quality of life surveys and qualitative interviews.<\/jats:p>\n                  <jats:p>\n                    Qualitative interviews (n\u2009=\u200945) and quality of life questionnaires, including the Pediatric Quality of Life\u2013Generic Core (PedsQL-GC, n\u2009=\u200946) and Family Impact (PedsQL-FI, n\u2009=\u200945) modules, Caregiver Priorities and Child Health Index of Life with Disabilities (CPCHILD, n\u2009=\u200930), and Caregiver Traumatic Brain Injury (TBI)-CareQoL (n\u2009=\u200937), were administered to caregivers of children with Aicardi Gouti\u00e8res syndrome. The open-ended interviews with guided questions addressed the caregivers\u2019 perception of Aicardi Gouti\u00e8res syndrome and determinants of quality of life. Interviews were conducted until thematic saturation and qualitative analyses generated salient themes. Per quality of life questionnaires, motor abilities and activities of daily living were more impaired compared with other domains (Comfort and Emotion, Psychosocial Health, [mixed effect analysis with Bonferroni correction,\n                    <jats:italic toggle=\"yes\">P<\/jats:italic>\n                    \u2009&lt;\u2009.0001; Wilcoxon signed-rank test,\n                    <jats:italic toggle=\"yes\">P<\/jats:italic>\n                    \u2009&lt;\u2009.0001, respectively). In the qualitative interviews, families described stress surrounding symptoms of Aicardi Gouti\u00e8res syndrome, poor neurologic development with communication and motor impairment, and the overall impact of the disease on the family. This study shows the profound effects of Aicardi Gouti\u00e8res syndrome on families, which have global implications for family life. CPCHILD and PedsQL-FI are the preferred tools for routinely assessing the impact of disease in the Aicardi Gouti\u00e8res syndrome population.\n                  <\/jats:p>","DOI":"10.1177\/08830738251341530","type":"journal-article","created":{"date-parts":[[2025,5,22]],"date-time":"2025-05-22T03:24:33Z","timestamp":1747884273000},"page":"543-554","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":4,"title":["Experiences and Hope in Caregivers of Children With Aicardi Gouti\u00e8res Syndrome"],"prefix":"10.1177","volume":"40","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4908-8395","authenticated-orcid":false,"given":"Francesco","family":"Gavazzi","sequence":"first","affiliation":[{"name":"Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA"},{"name":"Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ashley","family":"Martin","sequence":"additional","affiliation":[{"name":"Division of Neonatology, Children's Hospital of Philadelphia, Philadelphia, PA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anjana","family":"Sevagamoorthy","sequence":"additional","affiliation":[{"name":"Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ylenia","family":"Vaia","sequence":"additional","affiliation":[{"name":"Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA"},{"name":"University of Milan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ariel","family":"Vincent","sequence":"additional","affiliation":[{"name":"Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarah","family":"Woidill","sequence":"additional","affiliation":[{"name":"Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"suffix":"III","given":"Russell","family":"D\u2019Aiello","sequence":"additional","affiliation":[{"name":"Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sara B.","family":"DeMauro","sequence":"additional","affiliation":[{"name":"Division of Neonatology, Children's Hospital of Philadelphia, Philadelphia, PA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Scott A.","family":"Lorch","sequence":"additional","affiliation":[{"name":"Division of Neonatology, Children's Hospital of Philadelphia, Philadelphia, PA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adeline","family":"Vanderver","sequence":"additional","affiliation":[{"name":"Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA"},{"name":"Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura A.","family":"Adang","sequence":"additional","affiliation":[{"name":"Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA"},{"name":"Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2025,5,22]]},"reference":[{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2018.09.004"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1136\/annrheumdis-2014-205396"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1055\/s-0040-1722673"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1055\/s-0036-1592307"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1086\/521373"},{"key":"e_1_3_3_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/ccr3.3081"},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.1177\/0883073819870944"},{"key":"e_1_3_3_9_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-023-02837-9"},{"key":"e_1_3_3_10_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2648.2006.03736.x"},{"key":"e_1_3_3_11_2","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600-0722.2003.00001.x"},{"key":"e_1_3_3_12_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2012.02680.x"},{"key":"e_1_3_3_13_2","doi-asserted-by":"publisher","DOI":"10.1177\/0883073816656401"},{"key":"e_1_3_3_14_2","doi-asserted-by":"publisher","DOI":"10.1177\/0883073820938645"},{"key":"e_1_3_3_15_2","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-8-22"},{"key":"e_1_3_3_16_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2214.2009.01030.x"},{"key":"e_1_3_3_17_2","first-page":"51","article-title":"Parenting a child with chronic illness: a metasynthesis","volume":"32","author":"Coffey JS","year":"2006","unstructured":"Coffey JS. Parenting a child with chronic illness: a metasynthesis. Pediatr Nurs. 2006;32:51\u201359.","journal-title":"Pediatr Nurs"},{"key":"e_1_3_3_18_2","doi-asserted-by":"publisher","DOI":"10.1080\/01612840500436974"},{"key":"e_1_3_3_19_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2214.2004.00393.x"},{"key":"e_1_3_3_20_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10897-011-9394-5"},{"key":"e_1_3_3_21_2","doi-asserted-by":"publisher","DOI":"10.1177\/1043454207304907"},{"key":"e_1_3_3_22_2","doi-asserted-by":"publisher","DOI":"10.3390\/jcm13154510"},{"key":"e_1_3_3_23_2","doi-asserted-by":"publisher","DOI":"10.1186\/s41687-021-00336-8"},{"key":"e_1_3_3_24_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2214.2006.00666.x"},{"key":"e_1_3_3_25_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2214.2000.00149.x"},{"key":"e_1_3_3_26_2","unstructured":"Food and Drug Administration. FDA guidance for industry and other stakeholders. Patient-focused drug development: incorporating clinical outcome assessments into endpoints for regulatory decision-making. Docket number FDA-2023-D-0026 (April 2023)."},{"key":"e_1_3_3_27_2","unstructured":"Food and Drug Administration. FDA guidance for industry and other stakeholders. Patient-focused drug development: methods to identify what is important to patients. Docket number: FDA-2019-D-4247. (February 2022)."},{"key":"e_1_3_3_28_2","unstructured":"Food and Drug Administration. FDA guidance for industry and other stakeholders. Patient-focused drug development. Collecting Comprehensive and Representative Input Docket Number FDA-2018-D-1893 (June 2018)."},{"key":"e_1_3_3_29_2","unstructured":"Food and Drug Administration. FDA guidance for industry and other stakeholders. Patient-focused drug development. Selecting developing or modifying fit-for-purpose clinical outcome assessments. Docket number FDA-2022-D-1385 (June 2022)."},{"key":"e_1_3_3_30_2","unstructured":"Food and Drug Administration. FDA guidance for industry and other stakeholders. Rare diseases natural history studies for drug development. Docket number FDA-2019-D-0481 (March 2019)."},{"key":"e_1_3_3_31_2","unstructured":"FDA guidance for industry. Digital health technologies for remote data acquisition in clinical investigations. Docket number: FDA-2021-D-1128 (2023)."},{"key":"e_1_3_3_32_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMc2001362"},{"key":"e_1_3_3_33_2","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.14268"},{"key":"e_1_3_3_34_2","doi-asserted-by":"publisher","DOI":"10.1177\/08830738241283932"},{"key":"e_1_3_3_35_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000209541"},{"key":"e_1_3_3_36_2","doi-asserted-by":"publisher","DOI":"10.1023\/A:1018730204210"},{"key":"e_1_3_3_37_2","doi-asserted-by":"publisher","DOI":"10.1186\/1477-7525-11-152"},{"key":"e_1_3_3_38_2","doi-asserted-by":"publisher","DOI":"10.1186\/1477-7525-2-55"},{"key":"e_1_3_3_39_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2006.tb01227.x"},{"key":"e_1_3_3_40_2","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2431-10-81"},{"key":"e_1_3_3_41_2","doi-asserted-by":"publisher","DOI":"10.1037\/rep0000295"},{"key":"e_1_3_3_42_2","article-title":"The development of a new computer-adaptive test to evaluate strain in caregivers of individuals with TBI: TBI-CareQOL caregiver strain","volume":"100","author":"Carlozzi NE","year":"2019","unstructured":"Carlozzi NE, Kallen MA, Ianni PA, et al. The development of a new computer-adaptive test to evaluate strain in caregivers of individuals with TBI: TBI-CareQOL caregiver strain. Arch Phys Med Rehabil. 2019;100:S13\u2013s21. doi:https:\/\/doi.org\/10.1016\/j.apmr.2018.05.033","journal-title":"Arch Phys Med Rehabil"},{"key":"e_1_3_3_43_2","article-title":"The development of a new computer adaptive test to evaluate feelings of being trapped in caregivers of individuals with traumatic brain injury: TBI-CareQOL feeling trapped item bank","volume":"100","author":"Carlozzi NE","year":"2019","unstructured":"Carlozzi NE, Kallen MA, Hanks R, et al. The development of a new computer adaptive test to evaluate feelings of being trapped in caregivers of individuals with traumatic brain injury: TBI-CareQOL feeling trapped item bank. Arch Phys Med Rehabil. 2019;100:S43\u2013s51. doi:https:\/\/doi.org\/10.1016\/j.apmr.2018.06.025","journal-title":"Arch Phys Med Rehabil"},{"key":"e_1_3_3_44_2","doi-asserted-by":"publisher","DOI":"10.1037\/rep0000302"},{"key":"e_1_3_3_45_2","article-title":"The development of a new computer adaptive test to evaluate anxiety in caregivers of individuals with traumatic brain injury: TBI-CareQOL caregiver-specific anxiety","volume":"100","author":"Carlozzi NE","year":"2019","unstructured":"Carlozzi NE, Kallen MA, Sander AM, et al. The development of a new computer adaptive test to evaluate anxiety in caregivers of individuals with traumatic brain injury: TBI-CareQOL caregiver-specific anxiety. Arch Phys Med Rehabil. 2019;100:S22\u2013s30. doi:https:\/\/doi.org\/10.1016\/j.apmr.2018.05.027","journal-title":"Arch Phys Med Rehabil"},{"key":"e_1_3_3_46_2","doi-asserted-by":"publisher","DOI":"10.1037\/rep0000291"},{"key":"e_1_3_3_47_2","article-title":"The development of two new computer adaptive tests to evaluate feelings of loss in caregivers of individuals with traumatic brain injury: TBI-CareQOL feelings of loss-self and feelings of loss-person with traumatic brain injury","volume":"100","author":"Carlozzi NE","year":"2019","unstructured":"Carlozzi NE, Kallen MA, Ianni PA, et al. The development of two new computer adaptive tests to evaluate feelings of loss in caregivers of individuals with traumatic brain injury: TBI-CareQOL feelings of loss-self and feelings of loss-person with traumatic brain injury. Arch Phys Med Rehabil. 2019;100:S31\u2013s42. doi:https:\/\/doi.org\/10.1016\/j.apmr.2018.05.026","journal-title":"Arch Phys Med Rehabil"},{"key":"e_1_3_3_48_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36887"},{"key":"e_1_3_3_49_2","doi-asserted-by":"publisher","DOI":"10.1007\/s11135-017-0574-8"},{"key":"e_1_3_3_50_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jbi.2008.08.010"},{"key":"e_1_3_3_51_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jbi.2019.103208"},{"key":"e_1_3_3_52_2","volume-title":"Qualitative organizational research","author":"King N","year":"2012","unstructured":"King N. Qualitative organizational research. Sage; 2012."},{"key":"e_1_3_3_53_2","doi-asserted-by":"publisher","DOI":"10.1080\/14780887.2014.955224"},{"key":"e_1_3_3_54_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jid.2020.11.029"},{"key":"e_1_3_3_55_2","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2017-3549"},{"key":"e_1_3_3_56_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-021-01828-y"},{"key":"e_1_3_3_57_2","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12721"},{"key":"e_1_3_3_58_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2020.10.012"},{"key":"e_1_3_3_59_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2008.01081.x"},{"key":"e_1_3_3_60_2","doi-asserted-by":"publisher","DOI":"10.1186\/s12875-016-0488-x"},{"key":"e_1_3_3_61_2","doi-asserted-by":"publisher","DOI":"10.3389\/fpsyg.2019.01780"},{"key":"e_1_3_3_62_2","doi-asserted-by":"publisher","DOI":"10.1037\/a0019847"},{"key":"e_1_3_3_63_2","doi-asserted-by":"publisher","DOI":"10.1352\/1944-7558-120.6.514"},{"key":"e_1_3_3_64_2","doi-asserted-by":"publisher","DOI":"10.1192\/bjp.126.3.237"},{"key":"e_1_3_3_65_2","doi-asserted-by":"publisher","DOI":"10.1186\/s12955-014-0176-2"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/08830738251341530","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/08830738251341530","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/08830738251341530","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T20:41:40Z","timestamp":1777495300000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/08830738251341530"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,5,22]]},"references-count":64,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2025,8]]}},"alternative-id":["10.1177\/08830738251341530"],"URL":"https:\/\/doi.org\/10.1177\/08830738251341530","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,5,22]]}}}