{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T10:41:22Z","timestamp":1777804882354,"version":"3.51.4"},"reference-count":23,"publisher":"SAGE Publications","issue":"8","license":[{"start":{"date-parts":[[2025,4,2]],"date-time":"2025-04-02T00:00:00Z","timestamp":1743552000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"name":"National Institute of Health","award":["R01AG087455"],"award-info":[{"award-number":["R01AG087455"]}]},{"name":"National Institute of Health","award":["R01MH137004"],"award-info":[{"award-number":["R01MH137004"]}]},{"name":"National Institute of Health","award":["R01NS113141"],"award-info":[{"award-number":["R01NS113141"]}]},{"name":"National Institute of Health","award":["R01NS121618"],"award-info":[{"award-number":["R01NS121618"]}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2025,9]]},"abstract":"<jats:p>\n                    <jats:bold>Background:<\/jats:bold>\n                    Christianson syndrome is a rare X-linked disorder characterized by intellectual and developmental disability, epilepsy, and regressions, requiring lifelong care. This study explored family experiences and treatment priorities from the caregiver perspectives.\n                    <jats:bold>Methods:<\/jats:bold>\n                    Qualitative semistructured interviews were conducted with 18 caregivers of 20 patients (aged 4-29 years) to discuss symptom onset, diagnosis, progression, coping, and priorities. Transcripts were thematically analyzed.\n                    <jats:bold>Results:<\/jats:bold>\n                    Initial symptoms included seizures, delayed developmental milestones, and lack of speech. Caregivers described sadness, anger, and feeling overwhelmed after diagnosis. Concerns included seizures, communication challenges, and sleep disruptions. Only half reported robust support networks. Coping strategies included exercise, work, and partner support. Despite challenges, caregivers highlighted the happy, affectionate demeanors of the children. Caregivers emphasized connecting with other families and prioritized treatments for seizures, communication, and preventing regressions.\n                    <jats:bold>Conclusions:<\/jats:bold>\n                    These findings reflect caregiver experiences, enhance knowledge of Christianson syndrome impacts, and highlight common challenges for families managing disabilities.\n                  <\/jats:p>","DOI":"10.1177\/08830738251327619","type":"journal-article","created":{"date-parts":[[2025,4,2]],"date-time":"2025-04-02T05:34:50Z","timestamp":1743572090000},"page":"603-611","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":2,"title":["Christianson Syndrome Family Experiences: Results From Caregiver Interviews"],"prefix":"10.1177","volume":"40","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9308-6971","authenticated-orcid":false,"given":"Danielle G.","family":"St. Pierre","sequence":"first","affiliation":[{"name":"Brown University"},{"name":"Developmental Disorders Genetics Research Program (DDGRP), Department of Psychiatry and Human Behavior, Emma Pendleton Bradley Hospital, Warren Alpert Medical School at Brown University, Providence, RI, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carrie R.","family":"Best","sequence":"additional","affiliation":[{"name":"Brown University"},{"name":"Developmental Disorders Genetics Research Program (DDGRP), Department of Psychiatry and Human Behavior, Emma Pendleton Bradley Hospital, Warren Alpert Medical School at Brown University, Providence, RI, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jennifer","family":"Elacio","sequence":"additional","affiliation":[{"name":"Brown University"},{"name":"Developmental Disorders Genetics Research Program (DDGRP), Department of Psychiatry and Human Behavior, Emma Pendleton Bradley Hospital, Warren Alpert Medical School at Brown University, Providence, RI, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naomi","family":"Kissel","sequence":"additional","affiliation":[{"name":"Brown University"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eric M.","family":"Morrow","sequence":"additional","affiliation":[{"name":"Brown University"},{"name":"Developmental Disorders Genetics Research Program (DDGRP), Department of Psychiatry and Human Behavior, Emma Pendleton Bradley Hospital, Warren Alpert Medical School at Brown University, Providence, RI, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2025,4,2]]},"reference":[{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awq071"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.01.013"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.36.10.759"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.24225"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1186\/1866-1955-6-13"},{"key":"e_1_3_3_7_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg-2024-109973"},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.acap.2022.06.001"},{"key":"e_1_3_3_9_2","doi-asserted-by":"publisher","DOI":"10.1093\/geront\/30.5.583"},{"key":"e_1_3_3_10_2","doi-asserted-by":"publisher","DOI":"10.1097\/00006842-200005000-00011"},{"key":"e_1_3_3_11_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33093"},{"key":"e_1_3_3_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.31221"},{"issue":"2","key":"e_1_3_3_13_2","first-page":"98","article-title":"Complex neurological phenotype in female carriers of NHE6 mutations","volume":"5","author":"Pescosolido MF","year":"2019","unstructured":"Pescosolido MF, Kavanaugh BC, Pochet N, et al. Complex neurological phenotype in female carriers of NHE6 mutations. Mol Neuropsychiatry. 2019;5(2):98-108. doi:https:\/\/doi.org\/10.1159\/000496341","journal-title":"Mol Neuropsychiatry"},{"key":"e_1_3_3_14_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddad004"},{"key":"e_1_3_3_15_2","volume-title":"Christianson Syndrome","author":"Morrow EM","year":"2018","unstructured":"Morrow EM, Pescosolido MF. Christianson Syndrome. University of Washington; 2018."},{"key":"e_1_3_3_16_2","doi-asserted-by":"publisher","DOI":"10.1007\/s40271-017-0250-z"},{"key":"e_1_3_3_17_2","doi-asserted-by":"publisher","DOI":"10.1007\/s40271-019-00366-x"},{"key":"e_1_3_3_18_2","doi-asserted-by":"publisher","DOI":"10.1177\/2168479016671559"},{"key":"e_1_3_3_19_2","first-page":"4","article-title":"Patient-focused drug development: collecting comprehensive and representative input. Guidance for industry","author":"Administration","year":"2020","unstructured":"US Food and Drug Administration. 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