ABSTRACT
Background: Patients with autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations (ADTKD-MUC1) have a frameshift mutation on one allele of the MUC1 genotype, resulting in production an abnormal MUC1frameshift protein on on allele and normal MUC1 on the other allele. The C variant of the rs4072037 SNP increases production of MUC1 or MUC1fs if it is contained in the corresponding promoter. In addition to the kidneys, MUC1 is expressed in the nose and lungs. ADTKD-UMOD has a very similar clinical presentation, but UMOD is expressed only in the kidney. Method(s): We conducted a survey (after emergence of the delta variant) using the REDCAP database of 957 individuals in our ADTKD cohort to determine if COVID-19 infection was more severe in ADTKD-MUC1 patients. Result(s): There were 89 ADTKD-MUC1 and 132 ADTKD-UMOD respondents, with similar age, body mass index, transplant rates, vaccination rates,. 25/89(28%) ADTKDMUC1 individuals developed COVID-19 vs. 21/132(16%) ADTKD-UMOD individuals (odds ratio 2.35(1.6-3.1) (p=0.028). 10/41 (24%) ADTKD-MUC1 individuals died of COVID-19 vs. 1/30 (3%) ADTKD-UMOD individuals (p=0.013), with an odds ratio of 9.4 (7.2-11.5). The mean plasma mucin1 level in 13 infected and 23 uninfected ADTKDMUC1 individuals was 6.40+/-3.4 vs.10.89+/-3.82 U/mL (p=0.0012). Of ADTKD-MUC1 individuals who developed COVID-19, only 19% had the CC phenotype (associated with increased MUC1 production) vs. 51% of the ADTKD-MUC1 individuals who did not develop COVID-19 (p=0.01). There was no difference in rs4073037 genotype frequencies in the ADTKD-UMOD group. Of the 10 ADTKD-MUC1 patients who died, 8 were transplanted, with only 3 greater than 60 years of age. 50 percent had received 2 COVID-19 vaccines. Conclusion(s): Patients with ADTKD-MUC1 have a 2-fold increased odds of developing COVID-19 and a 9-fold increased mortality from COVID-19. Among ADTKD-MUC1 patients, those producing less MUC1 were more likely to develop COVID-19.
ABSTRACT
Purpose: Compared to cisgender peers, gender diverse youth (GDY) face significant mental health disparities. Parent affirmation reduces these disparities, but there are few evidence-based support programs for parents of GDY and none centered on 1:1 parent peer support, which has shown promise in other pediatric settings. This study aimed to evaluate a 1:1 peer mentor program for parents of GDY, the Parent Outreach Program (POP). Methods: We created anonymous online surveys consisting of open-ended questions about the POP distributed via email to program mentors (parents providing support) and mentees (parents receiving support). Participants were asked why they became involved, benefits and challenges, and how this program compared to others they had participated in. Open-ended responses were coded by two authors using two iteratively developed codebooks (one each for mentors and mentees);codes were adjudicated to consensus and key themes were identified for both participant types. Results: In total, 20 participants (6 mentors, 14 mentees) completed parallel surveys. Themes identified for mentors included feeling giving back was important, their mentoring experience, challenges, and personal growth resulting from being a mentor. Mentors wanted to help other families, “[POP was] rewarding in knowing that by helping the parents you can ultimately help the kids”. They shared logistical challenges like “coordinating schedules” as well as the potential for conversations to be triggering;“Sometimes it brings up a memory of my own family that evokes an emotion”. Mentors also noted their participation was a positive experience: “[POP] offers us the opportunity to grow in our knowledge and feelings in regard to our own child”. Themes identified for mentees included the importance of finding community through the POP, receiving education, relating to their mentors, practical considerations, and qualities of a good mentor. Parent mentees shared relief in finding a “sense of community”;as one mentee said, “It was a lifeline to some sanity”. They also noted that the POP gave them specialized information and that they connected with mentors based on shared experiences: “We craved parents with a true understanding of the many feelings, changes, activities…”. They addressed practical considerations like the intimacy of 1:1 support and that recommendations from a provider mattered to them: “This [program] is more intimate and focused on our stories;” “When the social worker offered it, I had no doubt.” Mentees stressed that mentors “being non-judgmental, willing to listen” was critical. All mentees noted that they would recommend POP to other parents. Conclusions: Both parent mentors and mentees shared that 1:1 peer support was valuable and allowed mentors to give back and experience personal growth, while providing community and resources to mentees who were struggling to understand and support their GDY’s journey. The POP also provides an alternative to large support groups given the ongoing COVID-19 pandemic. This program and others offering 1:1 parent peer support may fill an important gap in supporting parents of GDY, ultimately improving mental health outcomes for their young people. Sources of Support: Dr. Kidd was supported by the National Center for Advancing Translational Science of the NIH, Award Number TL1TR001858.
ABSTRACT
Purpose: Pediatric gender centers have seen a notable increase in demand for gender-affirming care services during the COVID-19 pandemic. This increased need has contributed to delays in youth accessing this time-sensitive care and amplified the importance of primary care providers (PCPs) playing an active role supporting gender diverse youth in the post-pandemic world. To guide interventions to support PCPs in gender-affirming care, we sought to understand how often PCP’s see gender diverse youth in primary care and assess PCP comfort facilitating conversations about gender identity in this setting. The objectives of this study were to (1) understand whether PCPs are routinely discussing pronouns and gender identity with adolescents and (2) explore barriers to and the impact of having such discussions in primary care. Methods: This project integrated data from a needs assessment survey and from semi-structured, qualitative interviews with pediatric PCPs. The 15-item survey was administered to PCPs in a large, hospital-affiliated, pediatric primary care network in the northeastern US to better understand PCPs experiences providing adolescent healthcare. Hour long, semi-structured interviews were conducted with pediatric PCPs in the pacific northwest using an interview guide developed in partnership with two PCP stakeholders. Survey responses were analyzed descriptively. Interviews were transcribed and analyzed by two authors in Dedoose qualitative analysis software via inductive thematic analysis using an iteratively designed codebook that was adjudicated to consensus. Results: Of the pediatric PCPs surveyed (n=85), the majority were pediatricians (67%) and most had been in practice for more than 5 years (75%). Almost all (92%) PCPs reported caring for at least one gender diverse youth in their practice in the last year. However, PCPs reported discussing pronouns (15%) and gender identity (29%) during annual well visits with adolescent patients much less frequently than discussing mood (98%), motor vehicle safety (77%) and sexuality (61%). Relatedly, gender-affirming care (60%) was the topic most frequently selected by PCPs for additional education. In separate PCP interviews, participants (n=15) indicated that while they felt discussions about pronouns and gender identity were important, they experienced specific structural and interpersonal barriers that prevented these conversations from occurring. These barriers included poor health system infrastructure (like forms and electronic health records), staff concerns, uncertainty around language, lack of awareness and fear. PCPs also discussed that when they asked about pronouns and gender identity, it normalized conversations about gender, helped facilitate family support, created welcoming environments in the health system and allowed for earlier identification of youth in need of support. Conclusions: Pediatric PCPs recognize the critical role they play in supporting gender-diverse youth and their families, particularly around normalizing conversations about gender identity. However, multiple individual and clinic-level barriers to asking about pronouns and gender identity remain. These results highlight the continued need to provide resources, education and support to PCPs in discussing these topics in the primary care setting to facilitate access to time-sensitive gender-affirming care. Sources of Support: This project was supported by the Seattle Children's Research Institute Career Development and AHRQ K12HS026393-03 (PI: Sequeira).