Quality of Life and Bladder Symptoms in Adolescents and Young Adults With Spina Bifida Who Catheterize via Urethra vs Catheterizable Channel.

PURPOSE: We sought to assess associations between health-related quality of life (QOL), bladder-related QOL, bladder symptoms, and bladder catheterization route among adolescents and young adults with spina bifida. MATERIALS AND METHODS: Clinical questionnaires administered to individuals ≥ 12 years old requiring catheterization between June 2019 to March 2020 in a spina bifida center were retrospectively analyzed. Questionnaires were completed in English or Spanish independently or with caregiver assistance. Medical records were reviewed for demographic and clinical characteristics. Primary exposure was catheterization route (urethra or channel). Primary outcome was health-related QOL, measured by Patient-Reported Outcomes Measurement Information System Pediatric Global Health 7 (PGH-7). Secondary outcomes were bladder-related QOL and bladder symptoms, measured by Neurogenic Bladder Symptom Score (NBSS). Nested, multivariable linear regression models assessed associations between catheterization route and questionnaire scores. RESULTS: Of 162 patients requiring catheterization, 146 completed both the PGH-7 and NBSS and were included. Seventy-three percent were catheterized via urethra and 27% via channel. Median age was 17.5 years (range 12-31), 58% of patients were female, and 80% had myelomeningocele. Urinary incontinence was more common among those who catheterized via urethra (60%) compared to channel (33%). On adjusted analyses, catheterization route was not significantly associated with PGH-7 or NBSS bladder-related QOL scores. More bladder symptoms were associated with worse bladder-related QOL. Patients who catheterized via channel had fewer bladder symptoms than those who catheterized via urethra. CONCLUSIONS: Catheterization route was not significantly associated with QOL. Though catheterization via channel was associated with fewer bladder symptoms, only degree of current bladder symptoms was significantly associated with bladder-related QOL.

Feasibility of Enhanced Recovery After Surgery (ERAS) implementation in Pediatric Urology: Pilot-phase outcomes of a prospective, multi-center study.

INTRODUCTION/BACKGROUND: Enhanced Recovery After Surgery (ERAS) is a fundamental shift in perioperative care that has consistently demonstrated an improved outcome for a wide variety of surgeries in adults but has only limited evidence in the pediatric population. OBJECTIVE: We aimed to assess the success with and barriers to implementation of ERAS in a prospective, multi-center study on patients undergoing complex lower urinary tract reconstruction. STUDY DESIGN: Centers were directed to implement an ERAS protocol using a multidisciplinary team and quality improvement methodologies. Providers completed pre- and post-pilot surveys. An audit committee met after enrolling the first 5 patients at each center. Pilot-phase outcomes included enrollment of ≥2 patients in the first 6 months of enrollment, completion of 90 days of follow-up, identification of barriers to implementation, and protocol adherence. RESULTS: A total of 40 patients were enrolled across 8 centers. The median age at surgery was 10.3 years (IQR 6.4-12.5). Sixty five percent had a diagnosis of myelomeningocele, and 33 % had a ventriculoperitoneal shunt. A bladder augmentation was performed in 70 %, Mitrofanoff appendicovesicostomy in 52 %, Monti ileovesicostomy in 15 %, and antegrade continence enema channel in 38 %. The most commonly perceived barriers to implementation on the pre-pilot survey were "difficulty initiating and maintaining compliance with care pathway" in 51 % followed by a "lack of time, money, or clinical resources" in 36 %. The pre-pilot study experience, implementation, and pilot-phase outcomes are provided in the Table. All primary and secondary outcomes were achieved. DISCUSSION: The findings of the present study were similar to several small comparative studies with regard to the importance of a multidisciplinary team, strong leadership, and continuous audit for successful implementation of ERAS. Similar barriers were also encountered to other studies, which primarily related to a lack of administrative support, leadership, and buy-in from other services. The limitations of the present study included a relatively small heterogeneous cohort and absence of a comparative group, which will be addressed in the larger exploratory phase of the trial. The findings may also not be generaziable due to the need for sustainable processes that were unique to each center as well as an absence of adequate volume or resources at smaller centers. CONCLUSIONS: ERAS was successfully implemented for complex lower urinary tract reconstruction across 8 centers through a multidisciplinary team, structured approach based on the local context, and focus on a continuous audit.

Male perspectives on clinical communication about sexual health in spina bifida.

AIM: To assess perspectives on clinical communication about sexual health in young adult males with spina bifida. METHOD: Semi-structured interviews were conducted between February and May 2021 with males at least 18 years of age with spina bifida to assess their perspectives and experiences of sexual health communication with clinicians. Demographic and clinical characteristics were obtained from chart review and a survey of patients. Interviews were transcribed verbatim, and conventional content analysis was used for transcript coding. RESULTS: Twenty individuals participated with a median age of 22 years 6 months (range 18-29 years). Sixteen had myelomeningocele. Most identified as heterosexual (n = 17) and not sexually active (n = 13). Barriers and facilitators of successful interactions were identified. Barriers for participants included general discomfort with talking about sex and variability in individual preferences for how conversations occur. Facilitators included participants' comfort with their urologist and discussing sex in relation to disability. Suggestions for improving discussions included (1) notifying individuals that discussion about sex will occur before clinic visits; (2) creating space for discussions; (3) respecting individuals' readiness to discuss; and (4) making discussions disability specific. INTERPRETATION: Young adult males with spina bifida are interested in discussing sexual health with their clinicians. Great variability exists about conversation preferences, emphasizing the need to individualize clinical communication about sex. Current health guidelines for males may not be in line with individuals' wishes. WHAT THIS PAPER ADDS: Great variability exists in individual preference around sexual health communication. Patient-level barriers hinder successful conversations about sex. Individuals have great insight into how conversations about sex can be improved.

Successful Use of Acellular Small Intestinal Submucosa Graft in Vaginal Reconstruction.

PURPOSE: Various techniques for neovaginal construction have been employed in the pediatric and adult populations, including the use of intestinal segments, buccal mucosal grafts, and skin grafts. Small intestinal submucosa (SIS) extracellular matrix grafts have been described as a viable alternative, though prior experience is limited. Our purpose was to assess operative characteristics and patient outcomes with neovaginal construction using SIS grafts. METHODS: Thirteen patients underwent vaginoplasty with acellular porcine SIS grafts at our institution between 2018 and 2022. Operative and clinical data, postoperative mold management, vaginal dilating length, and complications were reviewed. RESULTS: Age at time of repair ranged from 13 to 30 years (median 19 years). Patient diagnosis included cloacal anomalies (n = 4), Mayer-Rokitansky-Küster-Hauser syndrome (n = 4), isolated vaginal atresia with or without a transverse vaginal septum (n = 4), and vaginal rhabdomyosarcoma requiring partial vaginectomy (n = 1). Following dissection of the neovaginal space, a silicon mold wrapped with SIS graft was placed with retention sutures and removed on postoperative day 7. Median (IQR) operative time was 171 (118-192) minutes, estimated blood loss was 10 (5-20) mL, and length of stay was 2 (1-3) days. The follow-up period ranged from 3 to 47 months (median 9 months). Two patients developed postoperative vaginal stenosis that resolved with dilation under anesthesia. Mean vaginal length on latest follow-up was 8.97 cm. All thirteen patients had successful engraftment and progressed to performing self-dilations or initiating intercourse to maintain patency. There were no cases of graft reaction or graft extrusion. CONCLUSIONS: We conclude that acellular small intestinal submucosa grafts are effective and safe alternatives for mold coverage in neovaginal construction. Our experience demonstrates minimal perioperative morbidity, early mold removal, and progression to successful dilation with maintenance of a functional vaginal length. Future study on sexual outcomes, patient satisfaction, and comparison against alternative techniques has been initiated. LEVEL OF EVIDENCE: IV. TYPE OF STUDY: Retrospective Study.

Association Between Quality of Life and Neurogenic Bowel Symptoms by Bowel Management Program in Spina Bifida.

OBJECTIVE: To compare differences in bowel-specific quality of life (QOL), overall qQOL, and neurogenic bowel dysfunction (NBD) severity by bowel management program in patients with spina bifida (SB). METHODS: We performed a retrospective cross-sectional study of patients ≥12 years old at our multidisciplinary SB center who completed both a modified Peristeen NBD questionnaire (assessing bowel symptom severity and bowel-specific QOL) and the Patient-Reported Outcomes Measurement Information System Pediatric Global Health questionnaire (assessing overall QOL). Nested, multivariable models were fit for associations between outcomes and bowel management program (enemas, conservative management, and none). RESULTS: A total of 173 patients, 56.1% female and 64.6% with myelomeningocele, were included in our analysis. Median age was 18.2 years old. Patients reported using enemas (n = 42), conservative management (n = 63), and no bowel program (n = 68). When adjusting for covariates, there was no significant association between bowel-specific QOL nor overall QOL across bowel management programs. However, the use of conservative management compared to enemas was associated with worse bowel symptoms severity (adjusted beta=2.58, 95%CI=[0.09,5.06]). Additionally, greater bowel symptom severity was significantly associated with lower overall QOL (adjusted beta=-0.33, 95%CI=[-0.57,-0.10]). CONCLUSION: NBD symptom severity in SB is more strongly associated with QOL than the individual bowel program being utilized. Our findings suggest that different degrees of NBD require different invasiveness of bowel programs, but it is the outcome of the bowel management program and not the specific program itself that is most associated with QOL.

Causes of death among people with myelomeningocele: A multi-institutional 47-year retrospective study.

PURPOSE: This study aimed to analyze organ system-based causes and non-organ system-based mechanisms of death (COD, MOD) in people with myelomeningocele (MMC), comparing urological to other COD. METHODS: A retrospective review was performed of 16 institutions in Canada/United States of non-random convenience sample of people with MMC (born > = 1972) using non-parametric statistics. RESULTS: Of 293 deaths (89% shunted hydrocephalus), 12% occurred in infancy, 35% in childhood, and 53% in adulthood (documented COD: 74%). For 261 shunted individuals, leading COD were neurological (21%) and pulmonary (17%), and leading MOD were infections (34%, including shunt infections: 4%) and non-infectious shunt malfunctions (14%). For 32 unshunted individuals, leading COD were pulmonary (34%) and cardiovascular (13%), and leading MOD were infections (38%) and non-infectious pulmonary (16%). COD and MOD varied by shunt status and age (p < = 0.04), not ambulation or birthyear (p > = 0.16). Urology-related deaths (urosepsis, renal failure, hematuria, bladder perforation/cancer: 10%) were more likely in females (p = 0.01), independent of age, shunt, or ambulatory status (p > = 0.40). COD/MOD were independent of bladder augmentation (p = >0.11). Unexplained deaths while asleep (4%) were independent of age, shunt status, and epilepsy (p >= 0.47). CONCLUSION: COD varied by shunt status. Leading MOD were infectious. Urology-related deaths (10%) were independent of shunt status; 26% of COD were unknown. Life-long multidisciplinary care and accurate mortality documentation are needed.

Workflow for Management of Gonadal Neoplasm in 2 Patients with Differences of Sex Development Enrolled in an Experimental Gonadal Tissue Cryopreservation Protocol.

OBJECTIVE: To outline our experimental gonadal tissue cryopreservation (GTC) protocol that does not disrupt the standard of care in medically-indicated gonadectomy for patients with differences of sex development, including highlighting the multidisciplinary collaborative protocol for when neoplasm is discovered in these cases. METHODS: Two patients with complete gonadal dysgenesis who were undergoing medically-indicated prophylactic bilateral gonadectomy elected to pursue GTC. Both were found to have germ cell neoplasia in situ on initial pathologic analysis, requiring recall of the gonadal tissue, which had been cryopreserved. RESULTS: Cryopreserved gonadal tissue was successfully thawed and transferred to pathology for complete analysis. No germ cells were identified in either patient nor were found to have malignancy, so further treatment beyond gonadectomy was not indicated. Pathologic information was communicated to each family, including that long-term GTC was no longer possible. CONCLUSION: Organizational planning and coordination between the clinical care teams, GTC laboratory, and pathology were key to handling these cases with neoplasia. Processes that anticipated the possibility of discovering neoplasia within tissue sent to pathology and the potential need to recall GTC tissue to complete staging included (1) documenting the orientation and anatomical position of tissue processed for GTC, (2) defining parameters in which tissue will be recalled, (3) efficiently thawing and transferring GTC tissue to pathology, and (4) coordinating release of pathology results with verbal communication from the clinician to provide context. GTC is desired by many families and at the time of gonadectomy and is (1) feasible for patients with DSD, and (2) did not inhibit patient care in 2 patients with GCNIS.

"I Just Haven't Done Any of That": Applicability of the International Index of Erectile Function in Young Men With Spina Bifida.

PURPOSE: We evaluate the applicability of the International Index of Erectile Function in young men with spina bifida and identify spina bifida-specific sexual experiences not captured by this measure. MATERIALS AND METHODS: Semistructured interviews were conducted between February 2021 and May 2021 with men ≥18 years of age with spina bifida. The International Index of Erectile Function was completed by participants, and perspectives on its applicability were discussed. Participant experiences and perspectives around sexual health were discussed to identify aspects of the sexual experience not well captured by the International Index of Erectile Function. Demographic and clinical characteristics were obtained from a patient survey and chart review. Conventional content analysis framework was used for transcript coding. RESULTS: Of 30 eligible patients approached, 20 participated. Median age was 22.5 years (range 18-29), and 80% had myelomeningocele. Most identified as heterosexual (17/20, 85%), were not in a relationship (14/20, 70%), and were not currently sexually active (13/20, 65%). Some perceived the International Index of Erectile Function as applicable, while others reported it was not, as they do not define themselves as sexually active. Aspects of the sexual experience not captured by the International Index of Erectile Function included (1) lack of control over sexual function, (2) poor lower body sensation, (3) urinary incontinence, (4) spina bifida-specific physical limitations, and (5) psychosocial barriers. Participant suggestions for improving the International Index of Erectile Function to increase its applicability were identified. CONCLUSIONS: While many perceived the International Index of Erectile Function as applicable, the measure inadequately captures the diverse sexual experiences of young men with spina bifida. Disease-specific instruments to evaluate sexual health are needed in this population.

Prospective evaluation of a pediatric urodynamics protocol before and after limiting urine cultures.

PURPOSE: While our institution has historically obtained a urine culture (UCx) from every child at the time of urodynamics (UDS), no consensus exists on UDS UCx utility, and practice varies widely. This study aims to prospectively study our symptomatic post-UDS UTI rate before and after implementing a targeted UCx protocol. MATERIALS AND METHODS: A 2-part prospective study of patients undergoing UDS at one pediatric hospital was undertaken, divided into Phase 1 (7/2016-6/2017) with routine UCx at the time of UDS and Phase 2 (7/2019-6/2020) after implementation of a protocol limiting UCx at the time of UDS to only a targeted subset of patients. The primary outcome was symptomatic post-UDS UTI, defined as positive UCx ≥10ˆ4 CFU/mL and fever ≥38.5 °C or new urinary symptoms within seven days of UDS. RESULTS: A total of 1,154 UDS were included: 553 in 483 unique patients during Phase 1 and 601 in 533 unique patients during Phase 2. Age, sex, race, ethnicity, and bladder management did not differ significantly between phases. All 553 UDS in Phase 1 had UCx at the time of UDS, compared to 34% (204/601) in Phase 2. The rate of positive UCx decreased from 39% in Phase 1-35% in Phase 2. Three patients developed symptomatic post-UDS UTI in each study period, resulting in a stable post-UDS UTI rate of 0.5% (3/553) in Phase 1 and 0.5% (3/601) in Phase 2. These patients varied in age, sex, UDS indication, and bladder management. Four of the six (67%) patients had positive UCx at the time of UDS, one had a negative UCx, and one had no UCx under the targeted UCx protocol. Predictors of symptomatic post-UDS UTI could not be evaluated. DISCUSSION: In the largest prospective study to date, we found that symptomatic post-UDS UTI was <1% and that UCx at the time of UDS can safely be limited at our hospital. This reduction has important implications for cost containment and antibiotic stewardship. We will continue iterative modifications to our protocol, which may eventually include the elimination of UCx at the time of UDS in all groups. CONCLUSIONS: This 2-part prospective evaluation at one pediatric hospital determined that the symptomatic post-UDS UTI rate remained <1% with no identifiable predictors after limiting previously universal UCx at the time of UDS to only a targeted subset of patients.

A fresh "slant" on modified Mitchell bladder neck reconstruction: A contemporary single-institution experience.

Introduction: Patients with neurogenic urinary incontinence due to an incompetent outlet may be offered bladder neck reconstruction, but the quest for the perfect surgical-outlet procedure continues. Our aim was to characterize continence and complications after modified Mitchell urethral lengthening/bladder neck reconstruction (MMBNR) with sling and to introduce a modification of exposure that facilitates subsequent steps of MMBNR. Methods: A single-institution, retrospective cohort study of patients who underwent primary MMBNR between May 2011 and July 2019 was performed. Data on demographics, urodynamic testing, operative details, unanticipated events, continence, bladder changes, and additional procedures were collected. A 2013 modification that permits identification of the incompetent bladder neck prior to urethral unroofing was applied to the last 17 patients. The trigone and bladder neck are exposed via an oblique low anterolateral incision on the bladder. Ureteral reimplantation is not routinely performed. Focal incision of the endopelvic fascia after posterior plate creation limits breadth of blunt dissection for sling placement. Descriptive statistics were utilized. Results: A total of 25 patients (13 females) had MMBNR with sling at a median age of 10 years [interquartile range (IQR) 8-11]. Bladder augmentation was performed concurrently in 14/25 (56%) patients. At a median of 5.0 (IQR 3.9-7.5) years follow-up after MMBNR, 9/11 (82%) without bladder augmentation and 13/14 (93%) with bladder augmentation had no leakage per urethra during the day without further continence procedures. Of the three patients with persistent incontinence, two achieved continence with bladder wall Botox injection (overall continence 24/25, 96%). New and recurrent vesicoureteral reflux was noted in five patients and one patient, respectively. Two patients required subsequent bladder augmentation for pressures and one other will likely require it. None have required bladder neck closure or revision. Conclusion: MMBNR with sling provides promising continence per urethra in neurogenic bladder with low need for secondary continence procedures. Ongoing modifications may achieve elusive total continence.

The Association of Health Literacy with Health-Related Quality of Life in Youth and Young Adults with Spina Bifida: A Cross-Sectional Study.

OBJECTIVE: The objective of the study was to determine if health literacy is associated with health-related quality of life (HRQOL) in adolescents and young adults (AYAs) with spina bifida. STUDY DESIGN: Between June 2019 and March 2020, the Patient-Reported Outcome Measurement Information System Pediatric Global Health-7 (PGH-7), a measure of HRQOL, and the Brief Health Literacy Screening Tool (BRIEF) were administered to patients ≥12 years old with a diagnosis of spina bifida seen in our multidisciplinary spina bifida center. Questionnaires were completed at scheduled clinic visits. The primary outcome was the PGH-7 normalized T-score. The primary exposure was the BRIEF score. Demographic and clinical characteristics were obtained from the medical record. Nested, multivariable linear regression models assessed the association between health literacy and the PGH-7 score. RESULTS: Of 232 eligible patients who presented to clinic, 226 (97.4%) met inclusion criteria for this study. The median age was 17.0 years (range: 12-31). Most individuals were female (54.0%) and had myelomeningocele (61.5%). Inadequate, marginal, and adequate health literacy levels were reported by 35.0%, 28.3%, and 36.7% of individuals. In univariable analysis, higher health literacy levels were associated with higher PGH-7 scores. In nested, sequentially adjusted multivariable linear regression models, a higher health literacy level was associated with a stepwise increase in the PGH-7 score. In the fully adjusted model, adequate health literacy and marginal health literacy, compared with inadequate health literacy, were associated with increases in a PGH-7 score of 3.3 (95% CI: 0.2-6.3) and 1.1 (95% CI: -2.0 to 4.2), respectively. CONCLUSIONS: Health literacy was associated with HRQOL after adjusting for demographic and clinical factors. Strategies incorporating health literacy are needed to improve HRQOL in AYAs with spina bifida.

Streamlining surgical trays for common pediatric urology Procedures: A quality improvement initiative.

INTRODUCTION: Procedures involving the external genitalia are the most common pediatric urologic operations. Our group identified excess instrumentation for these cases to be a potential cause of operating room (OR) inefficiency at our large, freestanding pediatric hospital. This quality improvement (QI) initiative aimed to streamline surgical instrumentation for the most-performed pediatric urologic procedures at our hospital. MATERIAL AND METHODS: Six Sigma DMAIC methodology (Define, Measure, Analyze, Improve, Control) guided this multidisciplinary, iterative QI effort. A stakeholder team utilized data review, direct observations, and multiple in-person discussions to create a new "Groin-Penis Tray" (GPT) to replace a larger tray for the 90 most common pediatric urologic procedures. Suture preference cards and expectations about which sutures would be opened for each case were updated. The primary outcome was estimated yearly cost-avoidance due to reduced sterile processing. Additional outcomes included: instruments opened/case, % cases with complete trays, Mayo stand set-up time, and % cases with unused sutures. Balancing measures included: total median OR time and tray weights. Baseline and post-implementation measures were characterized and compared. RESULTS: A QI professional, 10 pediatric urologists, 2 pediatric urology fellows, and multiple OR and sterile processing staff members participated. The Summary Figure compares baseline and post-implementation measurements. The number of instruments opened/case decreased from 146 to 65. Annual sterile reprocessing costs decreased by >$51,000. Median Mayo stand set-up time decreased from 7.3 to 3.5 min (p < 0.001). The number of cases with complete trays increased from 7/20 (35%) to 11/20 (55%, p = 0.34). The new GPT is 2.7 kg lighter than the prior tray. Median OR time remained stable (baseline: 91 min; post-implementation: 102 min, p = 0.44). The number of cases with suture waste decreased from 78% to 0% immediately post-implementation but increased to 40% one year later. DISCUSSION: This systematic, iterative QI process spanned the course of ∼2 years, including planning, building, and updating new trays, then assessing longer-term success via the control phase. The new GPT is used for most pediatric urologic procedures at our hospital, and benefits include sterile reprocessing cost savings and ergonomics. Our team gained valuable experience related to assessing QI project scope, determining key stakeholders and roles, and strategies for sustainability that we will apply to future initiatives. CONCLUSIONS: Streamlining surgical trays for common pediatric urologic procedures at a large freestanding children's hospital using established QI methodology reduced OR cost by >$51,000/year and Mayo stand set-up times without compromising balancing measures.

Multidisciplinary spina bifida clinic: the Chicago experience.

Open spina bifida (open SB) is the most complex congenital abnormality of the central nervous system compatible with long-term survival. Multidisciplinary care is required to address the effect of this disease on the neurological, musculoskeletal, genitourinary, and gastrointestinal systems, as well as the complex psychosocial impact on the developing child. Individuals with SB benefit from the involvement of neurosurgeons, orthopedic surgeons, urologists, physical medicine and rehabilitation specialists, pediatricians, psychologists, physical/occupational/speech therapists, social workers, nurse coordinators, and other personnel. Multidisciplinary clinics are the gold standard for coordinated, optimal medical and surgical care. Ann and Robert H. Lurie Children's Hospital, formerly known as Children's Memorial Hospital, was one of the first hospitals in the USA to manage patients with this complex disease in a multidisciplinary manner. We describe the longitudinal experience of the multidisciplinary Spina Bifida Center at our institution and highlight the advances that have arisen from this care model over time. This clinic serves as an exemplar of organized, effective, and patient-centered approach to the comprehensive care of people living with open SB.

Botulinum toxin in patients at-risk for bladder augmentation: Durable impact or kicking the can?

PURPOSE: Deferring bladder augmentation (BA) may be desirable in a pediatric neurogenic bladder (NGB) with worsening compliance, but prior studies have questioned whether onabotulinum toxin A (BTX) demonstrates durable improvement in compliance. We present our overall experience with BTX and its role in mitigating the "at-risk" NGB, as determined by urodynamic characteristics. METHODS: A retrospective single-institution review of all BTX procedures performed during January 2010 to October 2018 was conducted. Patients with <12 months follow-up after first BTX injection were excluded. Urodynamic studies (UDS) were reviewed to assign National Spina Bifida Patient Registry (NSBPR) as well as institutionally developed (LCH) risk classification groups. Patients were considered "at-risk" for BA if they had any of the following: NSBPR risk grade of intermediate or hostile; LCH risk grades indicating end-fill pressure >25 cmH2 O or detrusor sphincter dyssynergia (DSD); upper tract changes including new hydronephrosis; new or worsening vesicoureteral reflux; or other signs of a hostile urinary tract (i.e., febrile UTIs). UDS risk grades pre and post-first BTX injection were compared in this "at-risk" group, when available. RESULTS: Thirty-nine patients underwent 162 injection procedures over a median follow-up of 65 months interquartile range (IQR 49-81). Median age at first BTX was 10 years and the median number of BTX injections per patient was 4 (IQR 2-7; range 1-12) with a median time of 6 months between injections (IQR 4-10). Twenty-six patients were deemed "at-risk" at the time of first BTX injection, and of those, 16 (61.5%) proceeded to BA at a median of 36 months (IQR 22.5-42). A small number (four) had BA due to upper tract changes or worsening pressures on BTX, while nine patients (five with CKD) proceeded to BA given a lack of sufficient improvement to consider BTX a long-term viable option. Post-first BTX UDS demonstrated downgrading of risk group in 38% and 63% using NSBPR and LCH classifications, respectively. CONCLUSIONS: Encouraging improvements in the urodynamic risk group were noted in some patients. With careful counseling and follow-up, BTX may safely extend the time to BA in some "at-risk" patients.

Attitudes toward fertility-related care and education of adolescents and young adults with differences of sex development: Informing future care models.

INTRODUCTION: Adolescents and young adults (AYA) with differences of sex development (DSD) face many challenging healthcare decisions. Fertility preservation is an emerging but experimental option for AYA with DSD. Optimal counseling regarding future fertility options has not yet been defined for this population. OBJECTIVE: To examine the fertility-related attitudes and experiences of AYA with DSD to inform future care needs. STUDY DESIGN: Semi-structured interviews were conducted from 2015 to 2018 with AYA with a DSD diagnosis who were seen in our multidisciplinary clinic. Topics covered included attitudes toward fertility and family building, fertility-related communication, and perspectives on fertility-related education and decision-making. Qualitative content analysis was performed using an inductive and deductive approach. RESULTS: Eight AYA (median age 17 years, range 14-28) with various DSD diagnoses (Mayer-Rokitansky-Küster-Hauser syndrome, complete androgen insensitivity syndrome, congenital adrenal hyperplasia, and 46, XY DSD unspecified) participated. AYA were open to many options related to family building and fertility preservation, desired full disclosure of information, and recognized the importance of an age-related progression to autonomy in decision-making. Spanning all topics, the following were salient: 1) diversity of attitudes and care preferences amongst participants, 2) evolution of these attitudes and preferences over time, and 3) an emphasis on individualization of education and care (Fig. 1). DISCUSSION: This qualitative study provided information on the fertility-related experiences and attitudes of AYA with DSD. Prior studies have shown a diversity of patient and parent preferences in many aspects of DSD research as well as low rates of fertility-related education and satisfaction therefrom. The knowledge gained from this study can be used to guide individualized and compassionate education and care surrounding the complex and evolving topic of fertility. This study is limited by interviews being conducted prior to the implementation of our DSD-specific gonadal tissue cryopreservation protocol. Despite this, the fertility-related patient experiences and attitudes prior to protocol implementation are important to present. The results from the preliminary analysis of these data were used to inform a new, ongoing qualitative study to explore the patient experience with fertility preservation in a more targeted fashion. CONCLUSIONS: The perspectives on fertility and related healthcare experiences of AYA with DSD demonstrated openness to many family-building options, a desire for full disclosure of information, care needs that evolved over time, and a recognition of the importance of eventual autonomy in decision-making. A flexible and individualized approach by the provider can optimize fertility-related healthcare experiences for AYA with DSD.

Stigma, Intrusiveness, and Distress in Parents of Children with a Disorder/Difference of Sex Development.

OBJECTIVE: The impact of parent-reported stigma due to their child's disorder/difference of sex development (DSD) on parent psychosocial adjustment is poorly understood. In other pediatric populations, perceived interference of medical conditions into daily activities (i.e., illness intrusiveness ) mediates the relationship of stigma to adjustment. This study assessed relationships between parent-focused and child-focused stigma → illness intrusiveness → depressive and anxious symptoms . Exploratory analyses sought to identify patient characteristics associated with stigma. METHOD: Caregivers (59 women and 43 men) of 63 children diagnosed with a DSD up to age 4 years completed measures of demographics, parent-focused and child-focused stigma, illness intrusiveness, and depressive and anxious symptoms. RESULTS: Increased parent-focused and child-focused stigma were associated with increased illness intrusiveness, which, in turn, was associated with increased depressive and anxious symptoms for parents nested within dyads. Among children with DSD family histories, parents reported greater child-focused stigma. CONCLUSION: Parents who experience DSD-related stigma report greater interference of their child's DSD into their daily activities, which is associated with poorer psychosocial adjustment. Findings support developing clinical interventions related to parents' perceptions of stigma and illness intrusiveness to improve parent adjustment.