{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,11]],"date-time":"2026-06-11T15:42:20Z","timestamp":1781192540812,"version":"3.54.1"},"reference-count":23,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2024,1,2]],"date-time":"2024-01-02T00:00:00Z","timestamp":1704153600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2024,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Three large multi\u2010center studies have identified the clinical utility of intravenous immunoglobulin (IVIg) in the treatment of Down syndrome regression disorder (DSRD). Yet the tolerability of infusions in individuals with DS and the safety of IVIg remains unknown in this population. This study sought to evaluate the safety and tolerability of IVIg in individuals with DSRD compared to a real\u2010world cohort of individuals with pediatric onset neuroimmunologic disorders. A single\u2010center, retrospective chart review evaluating clinically documented infusion reactions was performed for individuals meeting international consensus criteria for DSRD and having IVIg infusions between 2019 and 2023. Infusion reactions were evaluated for severity and need for alterations in infusion plan. This cohort was compared against an age and sex matched cohort of children with neuroimmunologic conditions who had also received IVIg infusions. In total, 127 individuals with DSRD and 186 individuals with other neuroimmunologic disorders were enrolled. There was no difference in the overall rate of adverse reactions (AEs) between the DSRD and general neuroimmunology cohorts (<jats:italic>p<\/jats:italic>\u2009=\u20090.31, 95% CI: 0.80\u20132.00), but cardiac\u2010related AEs specifically were more common among the DSRD group (<jats:italic>p<\/jats:italic>\u2009=\u20090.02, 95% CI: 1.23\u201317.54). When AEs did occur, there was no difference in frequency of pharmacologic intervention (<jats:italic>p<\/jats:italic>\u2009=\u20090.12, 95% CI: 0.34\u20131.13) or discontinuation of therapy (<jats:italic>p<\/jats:italic>\u2009=\u20090.74, 95% CI: 0.06\u20137.44). There was a higher incidence of lab abnormalities on IVIG among the general neuroimmunology cohort (<jats:italic>p<\/jats:italic>\u2009=\u20090.03, 95% CI: 0.24\u20130.94) compared to the DSRD cohort. Transaminitis was the most common laboratory abnormality in the DSRD group. In a large cohort of individuals with DSRD, there were no significant differences in the safety and tolerability of IVIg compared to a cohort of children and young adults with neuroimmunologic conditions.<\/jats:p>","DOI":"10.1002\/ajmg.a.63524","type":"journal-article","created":{"date-parts":[[2024,1,3]],"date-time":"2024-01-03T05:06:50Z","timestamp":1704258410000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Safety and tolerability of intravenous immunoglobulin infusion in Down syndrome regression disorder"],"prefix":"10.1002","volume":"194","author":[{"given":"Jonathan D.","family":"Santoro","sequence":"first","affiliation":[{"name":"Division of Neurology, Department of Pediatrics Children's Hospital Los Angeles  Los Angeles California USA"},{"name":"Department of Neurology Keck School of Medicine of the University of Southern California  Los Angeles California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saba","family":"Jafarpour","sequence":"additional","affiliation":[{"name":"Division of Neurology, Department of Pediatrics Children's Hospital Los Angeles  Los Angeles California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mellad M.","family":"Khoshnood","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Los Angeles General Hospital  Los Angeles California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalie K.","family":"Boyd","sequence":"additional","affiliation":[{"name":"Division of Neurology, Department of Pediatrics Children's Hospital Los Angeles  Los Angeles California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benjamin N.","family":"Vogel","sequence":"additional","affiliation":[{"name":"Division of Neurology, Department of Pediatrics Children's Hospital Los Angeles  Los Angeles California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lina","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Division of Neurology, Department of Pediatrics Children's Hospital Los Angeles  Los Angeles California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura E.","family":"Saucier","sequence":"additional","affiliation":[{"name":"Division of Neurology, Department of Pediatrics Children's Hospital Los Angeles  Los Angeles California USA"},{"name":"Department of Neurology Keck School of Medicine of the University of Southern California  Los Angeles California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca","family":"Partridge","sequence":"additional","affiliation":[{"name":"Virginia Mason Health System  Issaquah Washington USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuelle","family":"Tiongson","sequence":"additional","affiliation":[{"name":"Division of Neurology, Department of Pediatrics Children's Hospital Los Angeles  Los Angeles California USA"},{"name":"Department of Neurology Keck School of Medicine of the University of Southern California  Los Angeles California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leigh","family":"Ramos\u2010Platt","sequence":"additional","affiliation":[{"name":"Division of Neurology, Department of Pediatrics Children's Hospital Los Angeles  Los Angeles California USA"},{"name":"Department of Neurology Keck School of Medicine of the University of Southern California  Los Angeles California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deepti","family":"Nagesh","sequence":"additional","affiliation":[{"name":"Division of Neurology, Department of Pediatrics Children's Hospital Los Angeles  Los Angeles California USA"},{"name":"Department of Neurology Keck School of Medicine of the University of Southern California  Los Angeles California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eugenia","family":"Ho","sequence":"additional","affiliation":[{"name":"Division of Neurology, Department of Pediatrics Children's Hospital Los Angeles  Los Angeles California USA"},{"name":"Department of Neurology Keck School of Medicine of the University of Southern California  Los Angeles California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tena","family":"Rosser","sequence":"additional","affiliation":[{"name":"Division of Neurology, Department of Pediatrics Children's Hospital Los Angeles  Los Angeles California USA"},{"name":"Department of Neurology Keck School of Medicine of the University of Southern California  Los Angeles California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nusrat","family":"Ahsan","sequence":"additional","affiliation":[{"name":"Division of Neurology, Department of Pediatrics Children's Hospital Los Angeles  Los Angeles California USA"},{"name":"Department of Neurology Keck School of Medicine of the University of Southern California  Los Angeles California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wendy G.","family":"Mitchell","sequence":"additional","affiliation":[{"name":"Division of Neurology, Department of Pediatrics Children's Hospital Los Angeles  Los Angeles California USA"},{"name":"Department of Neurology Keck School of Medicine of the University of Southern California  Los Angeles California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael S.","family":"Rafii","sequence":"additional","affiliation":[{"name":"Department of Neurology Keck School of Medicine of the University of Southern California  Los Angeles California USA"},{"name":"Alzheimer's Therapeutic Research Institute University of Southern California  San Diego California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,1,2]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1908129116"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.7759\/cureus.10020"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.17294\/2330-0698.1824"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37001"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0140-6736(20)30689-9"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.2147\/ndt.S77307"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/jir.12390"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.2147\/ndt.S210613"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-019-12739-9"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2023.22924"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2019-2939"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1097\/yco.0000000000000845"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1186\/s11689-022-09446-w"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2022.940175"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41398-023-02579-z"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62922"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-019-0706-8"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-003-1085-1"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-017-13858-3"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.16220"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.3390\/brainsci11091197"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2019.10.038"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073814554654"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63524","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,5,15]],"date-time":"2025-05-15T13:58:08Z","timestamp":1747317488000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63524"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,1,2]]},"references-count":23,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2024,5]]}},"alternative-id":["10.1002\/ajmg.a.63524"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63524","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,1,2]]},"assertion":[{"value":"2023-10-16","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-12-16","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-01-02","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e63524"}}