JAMA Network OpenPub Date : 2025-09-02DOI: 10.1001/jamanetworkopen.2025.31298
Catherine Malboeuf-Hurtubise, Terra Léger-Goodes, Heena Dave, Leigh Hoath, David Lefrançois, Marc-André Éthier, Jonathan Smith, Claudine Fillion, Emilie McLean, Zachary Fry, Kevin Péloquin, Catherine M Herba
{"title":"Climate Change-Based Art and Philosophy Intervention and Mental Health in Children.","authors":"Catherine Malboeuf-Hurtubise, Terra Léger-Goodes, Heena Dave, Leigh Hoath, David Lefrançois, Marc-André Éthier, Jonathan Smith, Claudine Fillion, Emilie McLean, Zachary Fry, Kevin Péloquin, Catherine M Herba","doi":"10.1001/jamanetworkopen.2025.31298","DOIUrl":"10.1001/jamanetworkopen.2025.31298","url":null,"abstract":"","PeriodicalId":14694,"journal":{"name":"JAMA Network Open","volume":"8 9","pages":"e2531298"},"PeriodicalIF":9.7,"publicationDate":"2025-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12426790/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145033137","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
JAMA Network OpenPub Date : 2025-09-02DOI: 10.1001/jamanetworkopen.2025.31563
Seyed M Hosseini-Moghaddam, Daniel Fridman, Samantha S M Drover, Theodore K Marras, Sarah K Brode, Frances B Jamieson, Shahid Husain, Jeffrey C Kwong
{"title":"Nontuberculous Mycobacterial Disease in Solid-Organ Transplant Recipients and the General Population.","authors":"Seyed M Hosseini-Moghaddam, Daniel Fridman, Samantha S M Drover, Theodore K Marras, Sarah K Brode, Frances B Jamieson, Shahid Husain, Jeffrey C Kwong","doi":"10.1001/jamanetworkopen.2025.31563","DOIUrl":"https://doi.org/10.1001/jamanetworkopen.2025.31563","url":null,"abstract":"<p><strong>Importance: </strong>Single-center studies suggest that solid-organ transplant recipients (SOTRs) with nontuberculous mycobacterial disease (NTM-D) face increased mortality, particularly in the presence of comorbidities such as chronic lung disease. Large-scale studies are needed to quantify the risk of NTM-D and its impact on mortality in this population.</p><p><strong>Objective: </strong>To compare the risk of NTM-D between the general population and SOTRs, stratified by lung and nonlung transplants, and to assess whether NTM-D is associated with increased mortality risk in SOTRs.</p><p><strong>Design, setting, and participants: </strong>This population-based cohort study was conducted in Ontario, Canada, from April 1, 2002, to December 31, 2018. Adult SOTRs were matched 1:10 with general population controls by age, sex, and region. Analyses were conducted from January 2024 to March 2025.</p><p><strong>Exposure: </strong>Solid-organ transplantation.</p><p><strong>Main outcomes and measures: </strong>The primary outcome was NTM-D, defined as isolation of NTM from blood, tissues, or respiratory samples (≥2 sputum cultures with the same species or 1 bronchoscopic or lung biopsy culture). The secondary outcome was all-cause mortality in the SOTR cohort at 1 year and by the end of follow-up (March 31, 2021). Cox proportional hazard models were used to estimate the risk of outcomes.</p><p><strong>Results: </strong>The study included 138 175 individuals (49 611 female [35.9%]; mean [SD] age, 51.87 [12.99] years), comprising 12 564 SOTRs (7674 kidney, 2419 liver, 1257 lung, 584 heart, 563 kidney-pancreas, and 67 multiorgan recipients) and 125 611 matched controls. During the study period, 368 SOTRs (2.92%) and 127 controls (0.10%) developed NTM-D. Receipt of a lung transplant (adjusted hazard ratio [aHR], 177.34; 95% CI, 79.65-394.82) or other solid-organ transplant (aHR, 8.89; 95% CI, 5.90-13.40) were both associated with increased risk of NTM-D compared with controls. NTM-D by Mycobacterium avium complex (MAC) and rapidly growing mycobacteria (RGM) were associated with significant long-term mortality in lung SOTRs (MAC aHR, 1.66; 95% CI, 1.35-2.04; RGM aHR, 2.33; 95% CI, 1.59-3.39) and nonlung SOTRs (MAC aHR, 2.12; 95% CI, 1.36-3.29; RGM aHR, 2.25; 95% CI, 1.07-4.74).</p><p><strong>Conclusions and relevance: </strong>In this cohort study of SOTRs and the general population, both lung transplantation and other solid-organ transplantation were associated with a significantly elevated risk of NTM-D, which was linked to a higher mortality risk. These findings highlight the need for preventive and screening strategies.</p>","PeriodicalId":14694,"journal":{"name":"JAMA Network Open","volume":"8 9","pages":"e2531563"},"PeriodicalIF":9.7,"publicationDate":"2025-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145040181","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
JAMA Network OpenPub Date : 2025-09-02DOI: 10.1001/jamanetworkopen.2025.30551
Wilfredo De Jesús-Rojas, Katherine P Guerra-Torres, Alondra J Rosado-Ayala, Edwin L Acevedo-Soto, Marcos J Ramos-Benitez, Ricardo A Mosquera
{"title":"Identification of an RSPH4A Founder Variant and Newborn Screening for Primary Ciliary Dyskinesia.","authors":"Wilfredo De Jesús-Rojas, Katherine P Guerra-Torres, Alondra J Rosado-Ayala, Edwin L Acevedo-Soto, Marcos J Ramos-Benitez, Ricardo A Mosquera","doi":"10.1001/jamanetworkopen.2025.30551","DOIUrl":"10.1001/jamanetworkopen.2025.30551","url":null,"abstract":"","PeriodicalId":14694,"journal":{"name":"JAMA Network Open","volume":"8 9","pages":"e2530551"},"PeriodicalIF":9.7,"publicationDate":"2025-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12413642/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145000599","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
JAMA Network OpenPub Date : 2025-09-02DOI: 10.1001/jamanetworkopen.2025.27431
Kartikeya Makker, Jordan R Kuiper, Tammy Brady, Xiumei Hong, Guoying Wang, Colleen Pearson, Keia Sanderson, T Michael O'Shea, Xiaobin Wang, Khyzer Aziz
{"title":"Prematurity, Neonatal Complications, and the Development of Childhood Hypertension.","authors":"Kartikeya Makker, Jordan R Kuiper, Tammy Brady, Xiumei Hong, Guoying Wang, Colleen Pearson, Keia Sanderson, T Michael O'Shea, Xiaobin Wang, Khyzer Aziz","doi":"10.1001/jamanetworkopen.2025.27431","DOIUrl":"10.1001/jamanetworkopen.2025.27431","url":null,"abstract":"<p><strong>Importance: </strong>Preterm children face a higher risk of cardiovascular conditions, including hypertension. However, studies have not isolated the associations of prematurity with cardiovascular conditions from the associations of subsequent complications with cardiovascular conditions, especially among those admitted to a neonatal intensive care unit (NICU).</p><p><strong>Objective: </strong>To investigate prospective associations of prematurity and NICU complications with childhood hypertension while accounting for prenatal and perinatal factors.</p><p><strong>Design, setting, and participants: </strong>This cohort study analyzed longitudinal data from the Boston Birth Cohort on 2459 infants (695 preterm, 468 with NICU admission) born between January 1, 1999, and December 31, 2014. Statistical analysis was performed from January 1, 1999, to December 31, 2020.</p><p><strong>Main outcomes and measures: </strong>Children were categorized into 5 subgroups based on preterm birth status, NICU admission, and major complications (sepsis, chronic lung disease, necrotizing enterocolitis, and intraventricular hemorrhage). The primary end point was hypertension (episodic and persistent) per American Academy of Pediatrics guidelines, with elevated blood pressure (BP) and BP percentiles as secondary end points. Modified Poisson and proportional hazards regression were used to determine crude and adjusted relative risks (RRs) and hazard ratios (HRs). Secondary analyses used linear generalized estimating equations to assess repeated BP measurements over time, standardized to population-based BP percentiles.</p><p><strong>Results: </strong>Of the 2459 infants (695 preterm: mean [SD] gestational age, 33.2 [3.5] weeks; 358 boys [51.5%]; and 1764 full term: mean [SD] gestational age, 39.4 [1.3] weeks; 879 boys [49.7%]) in this study, 468 (19.0%) were admitted to the NICU. The incidence of persistent hypertension was higher among children born preterm compared with those born at full term (25.2% [175 of 695] vs 15.8% [278 of 1764]). Preterm infants and infants admitted to the NICU had a greater risk of developing persistent hypertension compared with full term-born children without NICU admission or neonatal complications, independent of pertinent maternal and infant characteristics. Preterm infants with an NICU stay, both with (adjusted RR, 1.87 [95% CI, 1.19-2.94]) and without (adjusted RR, 1.62 [95% CI, 1.27-2.07]) a neonatal complication, had the greatest risk for persistent hypertension. Cox proportional hazards regression analysis identified preterm infants with an NICU stay, particularly those with a complication, as having the highest risk of developing persistent hypertension (adjusted HR, 2.37 [95% CI, 1.44-3.89]). On average, infants born prematurely without an NICU admission or complication (β, 2.74 percentile points [95% CI, 0.38-5.10 percentile points]) and those born prematurely with an NICU admission but no complications (β, 4.06 perce","PeriodicalId":14694,"journal":{"name":"JAMA Network Open","volume":"8 9","pages":"e2527431"},"PeriodicalIF":9.7,"publicationDate":"2025-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12413647/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145000681","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
JAMA Network OpenPub Date : 2025-09-02DOI: 10.1001/jamanetworkopen.2025.31199
Derek R Soled, Christy L Cummings, Laura M Berbert, David N Williams, William B Feldman, Robert D Truog, Emily B Rubin
{"title":"Critical Care Physicians' Perspectives on Nudging in Communication.","authors":"Derek R Soled, Christy L Cummings, Laura M Berbert, David N Williams, William B Feldman, Robert D Truog, Emily B Rubin","doi":"10.1001/jamanetworkopen.2025.31199","DOIUrl":"10.1001/jamanetworkopen.2025.31199","url":null,"abstract":"<p><strong>Importance: </strong>Research in behavioral economics has demonstrated that people have irrational biases, which make them susceptible to decisional shortcuts, or heuristics. The extent to which physicians consciously might use nudges to exploit these heuristics and thereby influence their patients' decision-making is unclear. In addition, ethical questions about the conscious use of nudges in medicine persist, yet little is known about how physicians experience and perceive their use.</p><p><strong>Objective: </strong>To explore critical care physicians' perspectives on nudging to guide patients in clinical decision-making.</p><p><strong>Design, setting, and participants: </strong>This qualitative study involved semistructured interviews of critical care physicians at 3 tertiary care hospitals in Boston conducted between June and September 2024. Adult, pediatric, and neonatal critical care attending physicians were randomly selected to participate in the study. Transcripts were analyzed using qualitative thematic analysis from October 2024 to February 2025.</p><p><strong>Main outcomes and measures: </strong>Themes and subthemes that reflected physicians' experiences and views.</p><p><strong>Results: </strong>A total of 100 physicians were invited, and 54 physicians (29 [53.7%] male) were interviewed; 35 (64.8%) were adult intensivists, 13 (24.1%) were pediatric intensivists, and 6 (11.1%) were neonatal intensivists. Four main themes were identified: (1) nudging was generally seen as a positive and necessary part of medical communication; (2) physicians had ethical concerns about nudges, especially relating to autonomy; (3) nudging may be more effective and appropriate in certain situations but counter-productive in others; and (4) physicians' experiences and perspectives varied by practice setting, sex, and experience. Adult intensivists engaged in more direct recommendations and transparent nudges, while pediatric and neonatal intensivists supported more subtle nudging to foster shared decision-making. Female physicians tended to use nudges to emphasize patient and family emotional well-being, while male physicians tended to highlighted efficiency and outcomes as the primary reasons to nudge; junior physicians were more hesitant to use nudges compared with their more senior counterparts.</p><p><strong>Conclusions and relevance: </strong>In this qualitative study, physicians acknowledged that it was important to use nudges when communicating with patients, while noting ethical uncertainty. These findings have implications for how nudging may be used as an effective and appropriate communication technique depending on context.</p>","PeriodicalId":14694,"journal":{"name":"JAMA Network Open","volume":"8 9","pages":"e2531199"},"PeriodicalIF":9.7,"publicationDate":"2025-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12423848/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145029978","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
JAMA Network OpenPub Date : 2025-09-02DOI: 10.1001/jamanetworkopen.2025.31182
Kirsty A Clark, Seonaid Cleare, Amy M Brausch, Karen Wetherall, Richard Bränström, Mark L Hatzenbuehler, John E Pachankis, Rory C O'Connor
{"title":"Sexual Orientation and Exposure to Close Others' Self-Injurious Thoughts and Behaviors.","authors":"Kirsty A Clark, Seonaid Cleare, Amy M Brausch, Karen Wetherall, Richard Bränström, Mark L Hatzenbuehler, John E Pachankis, Rory C O'Connor","doi":"10.1001/jamanetworkopen.2025.31182","DOIUrl":"10.1001/jamanetworkopen.2025.31182","url":null,"abstract":"<p><strong>Importance: </strong>Sexual minority young adults experience disproportionately high rates of self-injurious thoughts and behaviors (SITB), including suicidal ideation, suicide attempts, and nonsuicidal self-injury (NSSI). While exposure to close others' SITB (eg, a friend or family member's suicide attempt) is a known risk factor for SITB, its role in sexual orientation disparities in SITB remains underexplored.</p><p><strong>Objective: </strong>To examine whether exposure to close others' SITB is associated with sexual orientation disparities in SITB.</p><p><strong>Design, setting, and participants: </strong>This cohort study assessed data from 2 nationally representative cohorts: the Swedish Pathways to Longitudinally Understanding Stress (PLUS) study (2023) and the Scottish Well-being Study ([SWS] conducted 2015-2018). The present study uses data only from the final wave of the PLUS study (2023) as this was the only wave that gathered information on exposure to close others' SITB (n = 1202). The present study also uses data from participants who completed the second through fourth follow-up waves of the SWS, as sexual orientation information was not collected at the first wave (n = 1828).</p><p><strong>Exposures: </strong>Sexual orientation (heterosexual vs sexual minority) was the primary exposure. Exposure to close others' SITB, assessed via validated measures, was the primary mediator.</p><p><strong>Main outcomes and measures: </strong>In both cohorts, primary outcomes assessed participants' own SITB. In the PLUS cohort, the primary outcome was suicidal ideation measured using the Suicidal Ideation Attributes Scale (scores range from 0 to 50, with higher scores indicating more severe suicidal ideation). In SWS, there were 5 primary outcomes assessing past-year presence of suicidal ideation, NSSI, NSSI ideation, and suicide attempt as well as a composite indicator of any of these outcomes (none = 0 or any = 1). Mediation analyses estimated associations between sexual minority status and SITB outcomes, mediated by exposure to close others' SITB. Bootstrap bias-corrected 95% CIs were calculated with 5000 bootstrap samples.</p><p><strong>Results: </strong>The PLUS cohort included 1202 participants (mean [SD] age, 30.2 [5.1] years; 906 [75.4%] female; 660 [54.9%] heterosexual). The SWS cohort included 1828 participants assessed across 3 waves (mean [SD] age, 26.9 [4.8] years; 1058 [57.9%] female; 1694 [93.1%] heterosexual). Sexual minority participants reported more frequent exposure to close others' SITB (eg, for suicide attempt: PLUS mean [SD], 0.41 [0.49] for sexual minority vs 0.23 [0.42] for heterosexual; P < .001; and SWS mean [SD], 0.28 [0.45] for sexual minority vs 0.14 [0.35] for heterosexual; P < .001) and higher SITB rates (eg, suicidal ideation: PLUS mean [SD], 4.67 [8.19] for sexual minority vs 1.97 [5.57] for heterosexual; P < .001; and SWS mean [SD], 0.35 [0.48] for sexual minority vs 0.13 [0.33]; P < .001) than hetero","PeriodicalId":14694,"journal":{"name":"JAMA Network Open","volume":"8 9","pages":"e2531182"},"PeriodicalIF":9.7,"publicationDate":"2025-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12423855/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145029478","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
JAMA Network OpenPub Date : 2025-09-02DOI: 10.1001/jamanetworkopen.2025.31303
Zoe Moula
{"title":"Educating for Planetary and Human Flourishing Through the Arts and Philosophy.","authors":"Zoe Moula","doi":"10.1001/jamanetworkopen.2025.31303","DOIUrl":"https://doi.org/10.1001/jamanetworkopen.2025.31303","url":null,"abstract":"","PeriodicalId":14694,"journal":{"name":"JAMA Network Open","volume":"8 9","pages":"e2531303"},"PeriodicalIF":9.7,"publicationDate":"2025-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145033210","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
JAMA Network OpenPub Date : 2025-09-02DOI: 10.1001/jamanetworkopen.2025.30804
Jasmine W Jiang, Sarah J Ho, Sakinah C Suttiratana, Carlisle E W Topping, Arjun K Venkatesh, Rieham Owda, Priscilla J Smith, Dalia Owda, Hazar Khidir
{"title":"State-Level Variation in and Barriers to Medicaid Abortion Coverage.","authors":"Jasmine W Jiang, Sarah J Ho, Sakinah C Suttiratana, Carlisle E W Topping, Arjun K Venkatesh, Rieham Owda, Priscilla J Smith, Dalia Owda, Hazar Khidir","doi":"10.1001/jamanetworkopen.2025.30804","DOIUrl":"10.1001/jamanetworkopen.2025.30804","url":null,"abstract":"<p><strong>Importance: </strong>Approximately 35% of individuals seeking abortion care use Medicaid for health insurance. Although the Hyde Amendment restricts use of federal funds for most abortions, states can supplement coverage using state funds. Understanding the scope of abortion coverage across states and potential barriers to access may help address health care inequities and inform interventions.</p><p><strong>Objective: </strong>To characterize state Medicaid abortion policies by conducting a qualitative analysis of publicly available state documents on Medicaid policy.</p><p><strong>Design, setting, and participants: </strong>This qualitative study analyzed Medicaid abortion policies across all 50 states and the District of Columbia (hereinafter, states). Data were systematically collected from publicly available Medicaid documents and state websites from May 2023 to February 2024.</p><p><strong>Main outcomes and measures: </strong>The main outcomes were key themes and descriptive statistics reporting on the scope of Medicaid abortion coverage and requirements for coverage across states, including documentation and procedures required of patients and physicians. Thematic analysis was performed to extract key themes found in abortion coverage policies, and descriptive statistics were used to show prevalence of identified themes across states.</p><p><strong>Results: </strong>The analysis of 94 documents revealed 3 key themes. First, the scope of coverage across states was heterogeneous. Eighteen states aligned with the current wording of the Hyde Amendment, 10 states described life endangerment without use of current Hyde Amendment wording, 17 states outlined additional coverage for other specified conditions for abortions, 6 states covered all abortions, and 1 state's policy did not mention required federal coverage for rape or incest exceptions. Second, states imposed various patient restrictions and requirements with regard to abortion care coverage, with 22 states mandating reporting requirements for abortions due to rape or incest, along with other administrative hurdles for patients seeking care. Third, physicians were tasked with many responsibilities, such as determining eligibility for Medicaid abortion coverage and complying with documentation and administrative requirements. Thirty-eight states explicitly required physician certification and justification for clinical conditions warranting coverage.</p><p><strong>Conclusions and relevance: </strong>The findings of this qualitative study of state Medicaid abortion policies suggest that there is substantial heterogeneity among states regarding the scope of Medicaid abortion coverage and that there are numerous obstacles for patients and physicians in accessing this coverage. This heterogeneity and burden may impose an additional layer of complexity to abortion access. Measures and policies that improve transparency, clarity, and efficiency may enhance access to essential abortio","PeriodicalId":14694,"journal":{"name":"JAMA Network Open","volume":"8 9","pages":"e2530804"},"PeriodicalIF":9.7,"publicationDate":"2025-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12418122/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145015387","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
JAMA Network OpenPub Date : 2025-09-02DOI: 10.1001/jamanetworkopen.2025.29885
Katherine L Ludorf, Renata H Benjamin, Charles J Shumate, Mark A Canfield, Joanne Nguyen, A J Agopian
{"title":"Long-Term Survival Among Children With Trisomy 13 and Trisomy 18 by Cytogenetic Status.","authors":"Katherine L Ludorf, Renata H Benjamin, Charles J Shumate, Mark A Canfield, Joanne Nguyen, A J Agopian","doi":"10.1001/jamanetworkopen.2025.29885","DOIUrl":"10.1001/jamanetworkopen.2025.29885","url":null,"abstract":"<p><strong>Importance: </strong>Trisomy 13 (T13) and trisomy 18 (T18) are chromosomal abnormalities with high mortality rates in the first year of life. Understanding differences in long-term survival between children with full vs mosaic or partial trisomy is crucial for prognosis and health care planning.</p><p><strong>Objective: </strong>To examine the differences in 10-year survival between children with full T13 and T18 vs those with mosaic or partial trisomy.</p><p><strong>Design, setting, and participants: </strong>This retrospective, population-based cohort study assessed liveborn infants with T13 and T18 in the Texas Birth Defects Registry (deliveries from January 1, 1999, to December 31, 2008). Follow-up was through December 31, 2018 (the last date available at the time of analyses) to allow for 10 years of follow-up for all infants. All analyses were conducted from January 1, 2022, to December 31, 2024.</p><p><strong>Exposures: </strong>Cytogenetic status (full trisomy vs mosaic or partial trisomy).</p><p><strong>Main outcomes and measures: </strong>The primary outcome was survival to 10 years of age, assessed using Kaplan-Meier survival estimates. The association between cytogenetic status and mortality by 10 years of age was assessed using Cox proportional hazards regression to generate hazard ratios (HRs). Population attributable fraction was calculated to determine the percentage of survival attributable to mosaic or partial trisomy status.</p><p><strong>Results: </strong>The study cohort included 798 infants (463 female infants [58.0%]; mean [SD] maternal age, 30.9 [8.0] years) with T13 (n = 295) or T18 (n = 503). Among all cases with T13, 25 infants (8.5%; 95% CI, 5.5%-12.3%) survived to 10 years of age. Similarly, among all infants with T18, 43 (8.6%; 95% CI, 6.3%-11.3%) survived to 10 years of age. Kaplan-Meier survival estimates to 10 years of age were statistically significantly higher among children with mosaic or partial trisomy (13 [25.0%] and 14 [43.8%], respectively) compared with full trisomy (12 [4.9%] and 29 [6.6%], respectively) (both P < .001). Infants with full trisomy had statistically significantly increased 10-year mortality hazards compared with those with mosaic or partial trisomy for both T13 (HR, 2.00; 95% CI, 1.42-2.82) and T18 (HR, 3.34; 95% CI, 2.08-5.38). The results of the calculated proportion of 10-year survival due to the presence of nonfull trisomy status (population attributable fraction) was 41.7% for children with T13 and 27.9% for children with T18.</p><p><strong>Conclusions and relevance: </strong>The findings of this cohort study of infants with T13 and T18 support differences in long-term survival based on cytogenetic status and emphasize the need to potentially reassess the context of these conditions generally being considered incompatible with life, particularly for those with mosaic trisomies. These findings offer context surrounding treatment decisions, such as withholding interventions, ","PeriodicalId":14694,"journal":{"name":"JAMA Network Open","volume":"8 9","pages":"e2529885"},"PeriodicalIF":9.7,"publicationDate":"2025-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12418129/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145015407","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}