Browsing by Subject "hypospadias"

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    Community engagement of adolescents in the development of a patient-centered outcome tool for adolescents with a history of hypospadias repair
    (Elsevier, 2019-10-01) Chan, K. H.; Panoch, J.; Carroll, A.; Downs, S.; Cain, M. P.; Frankel, R.; Cockrum, B.; Moore, C.; Wiehe, Sarah; Urology, School of Medicine
    Introduction: Hypospadias may lead to long-term issues with urination, sexual function and psychosocial well-being. Limited evidence exists regarding the healthcare communication preferences of male adolescents regarding sensitive topics. Objective: The purpose of this qualitative study was to explore the healthcare communication preferences of male adolescents regarding sensitive topics (e.g. urinary and sexual issues) and engage them in in the initial stages of development a patient-centered outcomes tool for adolescents with a history of hypospadias repair. Study Design: A multi-disciplinary team with communication design expertise, pediatric urology experts, and health services researchers developed a self-reported toolkit for adolescent patients who had hypospadias repair as children. The toolkit featured short writing/diagramming exercises and scales to facilitate participant reflections about genital appearance, urination, sexual function and psychosocial well-being. We recruited students from two local high schools for two focus groups to obtain feedback about the usability/acceptability of the toolkit’s appearance/content. We inquired about language preferences and preferred format and/or setting for sharing sensitive information with researchers. The focus groups were audio recorded, professionally transcribed, checked for accuracy and analyzed by two coders using qualitative content analysis. Major themes and subthemes were identified and representative quotes were selected. Results: We conducted two focus groups in January 2018 with 33 participants, ages 14-18. Participants preferred language that would make patients feel comfortable as well as serious, clinical language rather than slang terms/sexual humor (Extended Summary Table). They recommended avoidance of statements implying that something is wrong with a patient or statements that would pressure the patient into providing answers. They suggested fill-in-the-blank and open-ended responses to encourage freedom of expression and colorful graphics to de-emphasize the test-like appearance of the toolkit. Most participants preferred a toolkit format to a one-on-one interview to discuss sensitive topics such as urinary or sexual issues. Participants would prefer either a male interviewer or would like to have a choice of interviewer gender for individual qualitative interviews, and they recommended a focus group leader with a history of hypospadias repair. Discussion: This study provides a rich description of a group of male high school students’ experiences with healthcare providers and researchers. Its qualitative design limits generalizability and our findings may not be similar to adolescents with a history of hypospadias repair. Conclusion: We used focus group feedback on the toolkit prototype to refine the tool for use in a future study of adolescents with history of hypospadias repair.
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    Community Engagement of Adolescents in the Development of a Patient-Centered Outcomes Tool for Adolescents with a History of Hypospadias Repair
    (Elsevier, 2019) Chan, Katherine H.; Panoch, Janet; Carroll, Aaron; Downs, Stephen; Cain, Mark P.; Frankel, Richard; Cockrum, Brandon; Moore, Courtney; Wiehe, Sarah; Pediatrics, School of Medicine
    Introduction Hypospadias may lead to long-term issues with urination, sexual function and psychosocial well-being. Limited evidence exists regarding the healthcare communication preferences of male adolescents regarding sensitive topics. Objective The purpose of this qualitative study was to explore the healthcare communication preferences of male adolescents regarding sensitive topics (e.g. urinary and sexual issues) and engage them in in the initial stages of development a patient-centered outcomes tool for adolescents with a history of hypospadias repair. Study Design A multi-disciplinary team with communication design expertise, pediatric urology experts, and health services researchers developed a self-reported toolkit for adolescent patients who had hypospadias repair as children. The toolkit featured short writing/diagramming exercises and scales to facilitate participant reflections about genital appearance, urination, sexual function and psychosocial well-being. We recruited students from two local high schools for two focus groups to obtain feedback about the usability/acceptability of the toolkit’s appearance/content. We inquired about language preferences and preferred format and/or setting for sharing sensitive information with researchers. The focus groups were audio recorded, professionally transcribed, checked for accuracy and analyzed by two coders using qualitative content analysis. Major themes and subthemes were identified and representative quotes were selected. Results We conducted two focus groups in January 2018 with 33 participants, ages 14-18. Participants preferred language that would make patients feel comfortable as well as serious, clinical language rather than slang terms/sexual humor (Extended Summary Table). They recommended avoidance of statements implying that something is wrong with a patient or statements that would pressure the patient into providing answers. They suggested fill-in-the-blank and open-ended responses to encourage freedom of expression and colorful graphics to de-emphasize the test-like appearance of the toolkit. Most participants preferred a toolkit format to a one-on-one interview to discuss sensitive topics such as urinary or sexual issues. Participants would prefer either a male interviewer or would like to have a choice of interviewer gender for individual qualitative interviews, and they recommended a focus group leader with a history of hypospadias repair. Discussion This study provides a rich description of a group of male high school students’ experiences with healthcare providers and researchers. Its qualitative design limits generalizability and our findings may not be similar to adolescents with a history of hypospadias repair. Conclusion We used focus group feedback on the toolkit prototype to refine the tool for use in a future study of adolescents with history of hypospadias repair.
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    Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations
    (Elsevier, 2020-01-12) Hughes, Joel J.; Alkhunaizi, Ebba; Kruszka, Paul; Pyle, Louise C.; Grange, Dorothy K.; Berger, Seth I.; Payne, Katelyn K.; Masser-Frye, Diane; Hu, Tommy; Christie, Michelle R.; Clegg, Nancy J.; Everson, Joshua L.; Martinez, Ariel F.; Walsh, Laurence E.; Bedoukian, Emma; Jones, Marilyn C.; Harris, Catharine Jean; Riedhammer, Korbinian M.; Choukair, Daniela; Fechner, Patricia Y.; Rutter, Meilan M.; Hufnagel, Sophia B.; Roifman, Maian; Kletter, Gad B.; Delot, Emmanuele; Vilain, Eric; Lipinski, Robert J.; Vezina, Chad M.; Muenke, Maximilian; Chitayat, David; Pediatrics, School of Medicine
    In two independent ongoing next-generation sequencing projects for individuals with holoprosencephaly and individuals with disorders of sex development, and through international research collaboration, we identified twelve individuals with de novo loss-of-function (LoF) variants in protein phosphatase 1, regulatory subunit 12a (PPP1R12A), an important developmental gene involved in cell migration, adhesion, and morphogenesis. This gene has not been previously reported in association with human disease, and it has intolerance to LoF as illustrated by a very low observed-to-expected ratio of LoF variants in gnomAD. Of the twelve individuals, midline brain malformations were found in five, urogenital anomalies in nine, and a combination of both phenotypes in two. Other congenital anomalies identified included omphalocele, jejunal, and ileal atresia with aberrant mesenteric blood supply, and syndactyly. Six individuals had stop gain variants, five had a deletion or duplication resulting in a frameshift, and one had a canonical splice acceptor site loss. Murine and human in situ hybridization and immunostaining revealed PPP1R12A expression in the prosencephalic neural folds and protein localization in the lower urinary tract at critical periods for forebrain division and urogenital development. Based on these clinical and molecular findings, we propose the association of PPP1R12A pathogenic variants with a congenital malformations syndrome affecting the embryogenesis of the brain and genitourinary systems and including disorders of sex development.
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    Parental Perspectives on Decision-making about Hypospadias Surgery
    (Elsevier, 2019) Chan, Katherine H.; Panoch, Janet; Carroll, Aaron; Wiehe, Sarah; Downs, Stephen; Cain, Mark P.; Frankel, Richard; Medicine, School of Medicine
    Introduction Many parents who choose hypospadias repair for their son experience decisional conflict and regret. The utilization of a shared decision-making process may address the issue of decisional conflict and regret in hypospadias repair by engaging both parents and physicians in decision-making. Objective The objective of this study was to develop a theoretical framework of the parental decision-making process about hypospadias surgery to inform the development of a decision aid. Study Design We conducted semi-structured interviews with parents of children with hypospadias to explore their role as proxy-decision-makers, inquiring about their emotions/concerns, informational needs and external/internal influences. We conducted interviews until no new themes were identified, analyzing them iteratively using open, axial and selective coding. The iterative approach entails a cyclical process of conducting interviews and analyzing transcripts while the data collection process is ongoing. This allows the researcher to make adjustments to the interview guide as necessary based on preliminary data analysis in order to explore themes that emerge from early interviews with parents. We used grounded theory methods to develop an explanation of the surgical decision-making process. Results We interviewed 16 mothers and 1 father of 7 preoperative and 9 postoperative patients (n=16) with distal (8) and proximal (8) meatal locations. We identified four stages of the surgical decision-making process: 1) processing the diagnosis, 2) synthesizing information, 3) processing emotions and concerns and 4) finalizing the decision (Extended Summary Figure). We identified core concepts in each stage of the decision-making process. Primary concerns included anxiety/fear about the child not waking up from anesthesia and their inability to be present in the operating room. Parents incorporated information from the Internet, medical providers and their social network as they sought to relieve confusion and anxiety while building trust/confidence in their child’s surgeon. Discussion The findings of this study contribute to our understanding of decision-making about hypospadias surgery as a complex and multi-faceted process. The overall small sample size is typical and expected for qualitative research studies. The primary limitation of the study, however, is the underrepresentation of fathers, minorities and same-sex couples. Conclusions This study provides an initial framework of the parental decision-making process for hypospadias surgery that will inform the development of a decision aid. In future stages of decision aid development, we will focus on recruitment of fathers, minorities and same-sex couples in order to enrich the perspectives of our work.
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    Parental Perspectives on Decision-making about Hypospadias Surgery
    (Elsevier, 2019-10-01) Chan, Katherine H.; Panoch, Janet; Carroll, Aaron; Wiehe, Sarah; Downs, Stephen; Cain, Mark P.; Frankel, Richard; Urology, School of Medicine
    Introduction: Many parents who choose hypospadias repair for their son experience decisional conflict and regret. The utilization of a shared decision-making process may address the issue of decisional conflict and regret in hypospadias repair by engaging both parents and physicians in decision-making. Objective: The objective of this study was to develop a theoretical framework of the parental decision-making process about hypospadias surgery to inform the development of a decision aid. Study Design: We conducted semi-structured interviews with parents of children with hypospadias to explore their role as proxy-decision-makers, inquiring about their emotions/concerns, informational needs and external/internal influences. We conducted interviews until no new themes were identified, analyzing them iteratively using open, axial and selective coding. The iterative approach entails a cyclical process of conducting interviews and analyzing transcripts while the data collection process is ongoing. This allows the researcher to make adjustments to the interview guide as necessary based on preliminary data analysis in order to explore themes that emerge from early interviews with parents. We used grounded theory methods to develop an explanation of the surgical decision-making process. Results: We interviewed 16 mothers and 1 father of 7 preoperative and 9 postoperative patients (n=16) with distal (8) and proximal (8) meatal locations. We identified four stages of the surgical decision-making process: 1) processing the diagnosis, 2) synthesizing information, 3) processing emotions and concerns and 4) finalizing the decision (Extended Summary Figure). We identified core concepts in each stage of the decision-making process. Primary concerns included anxiety/fear about the child not waking up from anesthesia and their inability to be present in the operating room. Parents incorporated information from the Internet, medical providers and their social network as they sought to relieve confusion and anxiety while building trust/confidence in their child’s surgeon. Discussion: The findings of this study contribute to our understanding of decision-making about hypospadias surgery as a complex and multi-faceted process. The overall small sample size is typical and expected for qualitative research studies. The primary limitation of the study, however, is the underrepresentation of fathers, minorities and same-sex couples. Conclusions: This study provides an initial framework of the parental decision-making process for hypospadias surgery that will inform the development of a decision aid. In future stages of decision aid development, we will focus on recruitment of fathers, minorities and same-sex couples in order to enrich the perspectives of our work.