Parental decision regret after pediatric urologic surgeries compared to decisions of everyday life.

INTRODUCTION: Parents are at risk of decision regret (DR) for decisions affecting their children. The Decision Regret Scale (DRS) measures medical DR but lacks context outside of healthcare. OBJECTIVE: To compare parental DR 1) between common pediatric urologic surgeries and everyday decisions and 2) with preference to make a different choice. METHODS: We conducted a cross-sectional online survey of randomly selected parents >1year (y) after their children underwent: orchiopexy (males ≤10y), open ureteral reimplant (OUR, females 2-6y), open pyeloplasty (OP, ≤2y), or robotic pyeloplasty (RP, 5-17y) (2017-2021). Higher DRS scores indicate increased DR (none: 0, mild: 1-25, moderate: 30-50, strong: 55-75, very strong: 80-100). Parents completed DRS on four decisions: their child's surgery, most recent/current romantic relationship, most recent leased/purchased car, and most recent purchased meal. Parents reported if they would make the same choice (yes/no). Nonparametric statistics were used. RESULTS: We surveyed 191 parents (orchiopexy n = 52, OUR n = 50, OP n = 51, RP n = 38). The median parent age was 36y (mothers: 86%). Some DR was reported for all decisions, but with significant differences in DR severity. The lowest median DRS score was seen with surgery (orchiopexy 0 [IQR 0-10], OUR 0 [IQR 0-5], OP 0 [IQR 0-0], RP 0 [IQR 0-0]), with no difference between surgery groups (p = 0.78). This was followed by relationship (0, IQR 0-20), car (15, IQR 0-25), and meal (20, IQR 0-30, p < 0.001). Most parents did not report any DR regarding surgery (orchiopexy 69%, OUR 74%, OP 76%, RP 76%, with no difference between surgery groups p = 0.85, Summary Figure). Comparatively, 59% of parents did not have any regret about their relationship, 37% their car, and 28% their meal (p < 0.001). All surgical DR was mild or moderate. No parent (0%) would have chosen differently for their child's surgery versus 4-12% for non-surgical decisions (p < 0.001). Overall, increasing DR corresponded to increasing desire to have made a different choice (DRS≤10: 0%, DRS 45-50: 32%, DRS 55-60: 66%, DRS≥75: 100%, p < 0.001). CONCLUSION: Parental DR varied between urological surgical and non-surgical decisions. It was lowest after surgery. Some regret was reported after every decision, but the subset of parents with regret was smallest after surgical decisions. Positive DRS scores do not necessarily correspond to parents wishing they made a different choice.

Multi-stakeholder opinion statement on the care of individuals born with differences of sex development: common ground and opportunities for improvement.

BACKGROUND: In the last 15 years, the care provided for individuals born with differences of sex development (DSD) has evolved, with a strong emphasis on interdisciplinary approaches. However, these developments have not convinced some stakeholders to embrace the current model of care. This care model has also paid insufficient attention to socio-cultural differences and global inequalities. SUMMARY: This article is an opinion statement, resulting from in-depth discussions and reflection among clinicians, patients, and family support organizations based in the US and Europe, where we seek areas of common ground and try to identify opportunities to further develop resources. The product of these conversations is summarized in 10 panels. The corresponding sections provide additional discussion on some of the panel items. KEY MESSAGES: Participants identified areas of agreement and gained a deeper understanding of the reasons behind disagreements on certain matters and identified the necessary steps to foster future consensus. We offer preliminary recommendations for guiding clinical management and resource allocation. By promoting a broader consensus, we aim to enhance the quality of care and well-being for individuals of all ages who have a DSD.

People with spina bifida use their MACE on long-term follow-up: A single institutional retrospective cohort study.

OBJECTIVE: While the Malone antegrade continence enema (MACE) facilitates bowel movements in patients with spina bifida (SB) and neuropathic bowel, little is known about its long-term use. We aimed to assess long-term MACE use and potential risk factors for disuse. METHODS: All patients with SB who underwent MACE procedures at our institution were retrospectively reviewed. Main outcome was MACE disuse (no longer catheterizing the MACE for antegrade enemas) based on self-report on a clinic questionnaire, or medical record for patients last seen before introducing the questionnaire 5 years ago. Survival analysis used two timeframes: time after surgery (Analysis 1) and chronological age: accounting for older children reaching adulthood earlier (Analysis 2). RESULTS: Overall, 411 patients (54% female, 78% shunted, 65% augmented) underwent a MACE procedure at median 7.9 years old (median follow-up: 8.4 years). Thirty-three (8%) patients no longer used their MACE. Most common reasons for doing so were channel/stomal stenosis (61%) and excision at colostomy or other abdominal surgery (12%). Bowel management afterwards included oral agents ± enemas (55%), Chait tube (30%), colostomy (12%). After correcting for differential follow-up, 90% of participants used their MACE at 10 years and 87% at 15 years after surgery. Based on chronological age, 97% used their MACE at 15 years old, 92% at 20 and 81% at 30 (Summary Figure). On multivariate analysis, umbilical MACEs were 2.4 times more likely to be disused than right lower quadrant MACEs (p = 0.04). Without correcting for chronological age (Analysis 1), patients undergoing MACE surgery at older ages were more likely to stop MACE use (p = 0.03). However, after accounting for chronological age (Analysis 2), patients undergoing a MACE procedure at older ages were no more likely to stop its use (p = 0.47, Figure). Gender, SB type, shunt status, mobility status, bladder augmentation or a urinary catheterizable channel were not associated with stopping MACE use (p ≥ 0.10). COMMENT: Participants were regularly followed in multi-disciplinary SB clinics. We did not assess continence, satisfaction or long-term urinary channel use, making it premature to recommend optimal stomal locations. CONCLUSIONS: Most patients with SB followed by a multi-disciplinary team continue using their MACE; 1% stopped MACE use annually, particularly after adolescence. This strongly suggests it is an effective bowel management method and transitioning to self-care plays a role in maintaining long-term MACE use. Umbilical MACEs may be at high risk of disuse, but all people with a MACE can benefit from support as they transition to adult care.

Sexual activity and function of adult men with spina bifida.

OBJECTIVE: Data on sexual function of men with spina bifida (SB) is limited. We aimed to assess sexual activity and erectile dysfunction (ED) in a large international sample of men with SB. METHODS: Men with SB (≥18yo) were recruited in an international online survey via clinics and social media. We collected data on demographics, ambulation (Hoffer classification), penile rigidity (Erection Hardness Score), sexual activity and ED (International Index of Erectile Function). Non-parametric tests were used. RESULTS: A total of 162 men (median age 35, 62% shunted, 38% community ambulators) reported sexual desire similar to the general population (p = 0.82), but 55% were dissatisfied with their sex life (Summary Table). Overall, 36% reported full penile rigidity with erections, more commonly with better ambulation (p = 0.01), 69% had ever experienced orgasm and 84% ejaculated. In 44 men (27%) attempting sexual intercourse in the last 4 weeks, 59% had ED (11% severe, 7% moderate, 14% mild-moderate, 27% mild). In this group, 91% of men reporting less than full penile rigidity had ED, compared to 30% with full penile rigidity (p = 0.001). Overall, partnered non-genital contact in the last 3 months was reported by 56%, solo masturbation: 62%, partnered intercourse: 48% (31% vaginal). Of 54 men who used phosphodiesterase type 5 inhibitors (PDE5I), 80% reported improved erections, 56% improved intercourse. Overall, 40% reported non-genital erogenous zones as most pleasurable, especially with poorer ambulation (p = 0.002, chest/nipples: 73%). COMMENT: Strengths of this study include anonymous, voluntary, online participation maximizing participation of a heterogenous, international population. Whenever available, we compared findings to published values for the general population. Since romantic and sexual activity is a complex intersection of interest, opportunity and ability, a more comprehensive assessment was beyond the study's scope. Future work will focus on the interplay with issues like incontinence. CONCLUSIONS: ED was frequent among men with SB, especially in men with poorer ambulation. PDE5 inhibitors may be beneficial. Partnered sexual activity was reported by half of the men, although it may not involve penetrative intercourse.

Age-based risk of end-stage kidney disease in patients with myelomeningocele.

OBJECTIVE: We aimed to quantify end-stage kidney disease (ESKD) risk after infancy in individuals with myelomeningocele (MMC) followed by urology in the modern medical era and to assess if ESKD risk was higher after surgery related to a hostile bladder. METHODS: We retrospectively reviewed patients with MMC followed by urology at our institution born ≥ 1972 (when clean intermittent catheterization was introduced) past 1 year of age (when mortality is highest, sometimes before establishing urology care). ESKD was defined as requiring permanent peritoneal/hemodialysis or renal transplantation. Early surgery related to hostile bladder included incontinent vesicostomy, bladder augmentation, detrusor Botulinum A toxin injection, ureteral reimplantation, or nephrectomy for recurrent urinary tract infections. Survival analysis and proportional hazards regression were used. Sensitivity analyses included: risk factor analysis with only vesicostomy, timing of surgery, including the entire population without minimal follow-up (n = 1054) and only patients with ≥ 5 years of follow-up (n = 925). RESULTS: Overall, 1029 patients with MMC were followed for a median of 17.0 years (49% female, 76% shunted). Seven patients (0.7%) developed ESKD at a median 24.3 years old (5 hemodialysis, 1 peritoneal dialysis, 1 transplantation). On survival analysis, the ESKD risk was 0.3% at 20 years old and 2.1% at 30 years old (Figure). This was ∼100 times higher than the general population (0.003% by 21 years old, p < 0.001). Patients who underwent early surgery for hostile bladder had higher ESKD risk (HR 8.3, p = 0.001, 6% vs. 1.5% at 30 years). On exploratory analyses, gender, birth year, shunt status and wheelchair use were not associated with ESKD risk (p ≥ 0.16). Thirty-year ESKD risk was 10% after early vesicostomy vs. 1.4% among children without one (p = 0.001). Children undergoing bladder surgery between 1.5 and 5 years old had a higher risk of ESKD. No other statistically/clinically significant differences were noted. COMMENT: Patients with MMC remain at risk of progressive renal damage throughout life. We relied on the final binary ESKD outcome to quantify this risk, rather than imprecise glomerular filtration rate formulas. Analysis was limited by few people developing ESKD, inconsistent documentation of early urodynamic findings and indications for bladder-related surgery. CONCLUSIONS: While ESKD is relatively uncommon in the MMC population receiving routine urological care, affecting 2.1% of individuals in the first 3 decades, it is significantly higher than the general population. Children with poor bladder function are likely at high risk, underlining the need for routine urological care, particularly in adulthood.

Split appendix catheterizable urinary channels are at no higher risk of undergoing revision compared to channels made with the intact appendix.

OBJECTIVE: To assess long-term APV and split-appendix MACE durability and to compare split and intact appendix APVs in a large patient cohort. METHODS: This retrospective cohort study included consecutive patients ≤21 years old undergoing an APV at our institution (1990-2019). Main outcomes were stomal and subfascial revisions. Kaplan Meier survival and Cox proportional hazards analysis were used. RESULTS: A total of 339 patients underwent APV creation at a median 7.4 years old (41% female vs. 59% male; 37% umbilical stoma vs. 63% other). In total, 36 patients underwent a stomal revision and 19 a subfascial revision (median channel follow-up 6.3 years). On survival analysis, the risk of stomal revision of the APV was 9.1% at 5 years, 12.6% at 10 years and 16.5% at 15 years. Risk of subfascial revision of the APV was 5.1% at 5 years, 7.0% at 10 years and 8.2% at 15 years. A split-appendix APV was performed in 118 (34.8%) of 339 patients. They had a shorter follow-up compared to those with an intact APV (5.1 vs. 7.0 years, p = 0.03). After correcting for differential follow-up time, there was no significant difference between groups for stomal revisions (HR 1.11, p = 0.76) or subfascial revisions (HR 0.80, p = 0.67, Figure). Risk of APV stomal revision was independent of stomal location and age at surgery (p ≥ 0.37). Similarly, risk of subfascial APV revision was independent of stomal location and age at surgery (p ≥ 0.18). Risk of stomal revision for split-appendix MACE channels was 16.2% at 5, 10 and 15 years (similar to split-appendix APV and all APVs, p ≥ 0.26). Risk of MACE subfascial revision was 5.5% at 5 years, 5.5% at 10 years and 14.7% at 15 years (similar to split-appendix APV and all APVs, p ≥ 0.36). COMMENT: We focused on surgical complications, as these entail the highest morbidity, however, we did not assess non-surgical, percutaneous or endoscopic management which also impact long-term outcome and patient quality of life. We did not compare the outcomes of the split-appendix MACE to an intact-appendix MACE cohort, as this patient population was not captured in this review. CONCLUSIONS: The split-appendix technique has durable long-term results for both the APV and MACE channels, which are comparable to the technique utilizing the intact appendix. Channel complications occur over the channel's lifetime, as 1 in 8 APVs in the entire cohort underwent a stomal revision and 1 in 14 APVs underwent a subfascial revision at 10 years after surgery.

Incidence of nephrolithiasis after bladder augmentation in people with spina bifida.

INTRODUCTION: Risks of nephrolithiasis after bladder augmentation in people with spina bifida (SB) remain unclear. Annual incidence of nephrolithiasis in the general population is 0.01% for 10-14 years old, 0.07% for 15-19 years old and 0.2% for 20-24 years old. Our aim was to assess the incidence and risk factors of nephrolithiasis in SB patients after augmentation. METHODS: Patients with SB and augmentation followed at our institution were retrospectively reviewed (born ≥1972, surgery 1979-2019). Patients were screened annually with renal bladder ultrasound and abdominal radiograph. Main outcome was nephrolithiasis treatment. Kaplan-Meier survival and Cox proportional hazards analysis were used. Possible predictors were assessed using stepwise forward selection (variables with p < 0.1 on univariate analysis included in multivariate analysis). RESULTS: 427 patients with SB and augmentation were included (51.8% female, 74.9% shunted). Median age at augmentation was 8.5 years (median follow-up: 12.4 years, ileum segment: 81.0%, bladder neck procedure: 60.7%, urinary channel: 74.2%) and 28.8% developed bladder stones. Overall, 47 (11.0%) patients were treated for nephrolithiasis. After correction for differential follow-up, nephrolithiasis was treated in 7.3% at 10 years, 13.2% at 15 years, and 18.0% at 20 years (Figure). Patients presented with either a urinary tract infection (46.8%), on screening (44.7%), or pain (8.5%). Stones were treated percutaneously, endoscopically or by ESWL (63.8%/34.0%/10.7%, respectively). Most were calcium stones (58.3%). On multivariate analysis, compared to younger patients, patients augmented at ≥10 years of age had 1.84 times the risk of nephrolithiasis (p = 0.01). Nephrolithiasis was more common in those who developed bladder stones (HR = 3.00, p < 0.0001). Among those with both renal and bladder stones, bladder stones typically preceded nephrolithiasis (55.2%), were treated concurrently (31.0%) and 13.8% occurred after nephrolithiasis. Gender, wheelchair use, bowel segment used, MACE and skeletal fractures were not associated with higher nephrolithiasis risk (p ≥ 0.11). DISCUSSION: This study of a large cohort of SB patients with long-term follow-up highlights that the risk of nephrolithiasis is cumulative and related to bladder stone formation, age at augmentation and time since augmentation. An association with bladder stones suggests potential shared metabolic causes. The study's retrospective design likely led to underestimating the risk of nephrolithiasis by not capturing spontaneously passed stones. CONCLUSION: Approximately 1% of patients with SB develop nephrolithiasis annually after augmentation. Close long-term surveillance after augmentation is strongly indicated, as nephrolithiasis incidence in augmented patient with SB is at least 10 times higher than general population. Patients with bladder stones are especially at risk.

Troubleshooting problems with antegrade continent enema flushes: The Indiana university algorithm.

INTRODUCTION: Antegrade continence enemas have transformed treatment and improved the quality of life in children with neuropathic bowel, refractory constipation and fecal incontinence. However, it can often be difficult to manage problems that arise with ACE flushes. OBJECTIVE: We report the use of an online tool designed for nurses to help troubleshoot calls for problems associated with antegrade continence enema (ACE) flushes as well as update our algorithm for managing refractory constipation/fecal incontinence in a large single institution experience. STUDY DESIGN: We developed an online tool based on our management protocol for managing refractory constipation/fecal incontinence (Summary Figure). Patient frequency and bother was assessed prior to the intervention and at one month after the intervention using 5- and 4-point Likert scales respectively. Patient demographics, MACE/Chait information, type of difficulty, volume of flush, and use of additives were recorded. Nurses were also interviewed prior to using the tool and 14 months after its development with regards to taking these phone calls and the helpfulness of the tool. RESULTS: Over 14 months, the nurses received 22 patients calls via the nursing triage line regarding ACE flush problems and prospectively collected data. Half reported multiple episodes of fecal incontinence. Other complaints included no response to flush (8, 36.4%), occasional episodes of liquid fecal incontinence (2, 9.1%) and time of flush exceeding 60 min (1, 4.5%). While patients did not report decreased frequency of problems as a result of nurse troubleshooting using the ACE algorithm (2.5 vs. 2, p = 0.55), patients did report a significant improvement in their bother scores (4 vs. 2, p = 0.02). All but one patient reported that the recommendation was "some" or "a lot" helpful on follow up interview. The nurses all indicated that the tool helped "some" or "a lot." DISCUSSION: The antegrade continence enema is valuable in managing neurogenic bowel, refractory constipation, and fecal incontinence, however, some patients experience problems with flushes that can often be difficult to manage. CONCLUSION: Patients reported less bother with their bowel issues after using our algorithm for managing refractory constipation/fecal incontinence and nurses reported that the tool was helpful.

Majority of females with a life-long experience of CAH and parents do not consider females with CAH to be intersex.

INTRODUCTION: To assess opinions of females with CAH, and parents of females with CAH, about designating this population "intersex," particularly in legislation about genital surgery during childhood. METHODS: We conducted a mixed-methods (quantitative and qualitative) anonymous cross-sectional online survey of females with CAH (46XX, 16+years old) and independently recruited parents of girls with CAH (2019-2020) diagnosed in first year of life from the United States. A multidisciplinary CAH team drafted the survey in collaboration with women with CAH and parents. Fisher's exact test was used to compare female and parent responses. A qualitative thematic approach was used to analyze open-ended answers for emergent categories of reasons why CAH females should or should not be considered as intersex. RESULTS: Of 57 females with CAH participating (median age: 39 years, 75.5% of ≥25year olds had post-secondary degree), all had classical CAH and 93.0% underwent genital surgery at median 1-2 years old. While 89.5% did not endorse the intersex designation for CAH, the remaining 5.3% did (5.3% provided no answer, Summary Figure). Most CAH females (63.2%) believed CAH females should be considered separately in "any laws banning or allowing surgery of children's genitals" (19.3% disagreed, 17.5% neutral, 0.0% no answer). Most common themes identified by females with CAH not endorsing an intersex designation were: normal female internal organs, sex chromosomes, personal identity, genital appearance, issues with language, hormones, and those endorsing it: genital appearance, community/group experiences, topic complexity. Overall, 132 parents of females with CAH participated (parent/child median ages: 40/11 years, 81.7% of ≥25year olds had post-secondary degree). All children had classical CAH and 78.8% underwent surgery at median <1 year old. While 95.5% of parents did not endorse the intersex designation for CAH, 2.3% did (2.3% no answer), similar to females (p = 0.29). Most parents (81.1%) believed CAH females should be considered separately in legislation (9.1% disagreed, 6.1% neutral, 3.8% no answer), a slightly higher percentage than females (p = 0.01). DISCUSSION: Echoing previously published disagreement with clinically designating CAH females as intersex, majority of CAH females and parents oppose a legal intersex designation. Differing opinions among females and parents strengthen concern about a one-size-fits-all approach to legislation about childhood genital surgery. Differences in opinions between female and parent responses, while statistically significant, were relatively small. CONCLUSION: Majority of females with CAH and parents believe CAH should be excluded from the intersex designation, and should be considered separately in legislation pertaining to childhood genital surgery.

Additional Surgeries after Bladder Augmentation in Patients with Spina Bifida in the 21st Century.

PURPOSE: We determined the long-term risks of additional surgery after bladder augmentation in a modern spina bifida cohort accounting for differential followup. MATERIALS AND METHODS: We retrospectively reviewed patients with spina bifida who were born after 1972 and were followed at our institution after augmentation surgery performed between 1979 and 2018. Outcomes included diversion, bladder stones, perforation, reaugmentation, laparotomy for bowel obstruction, and benign and malignant bladder tumors. Survival analysis was used for the entire cohort and the modern cohort (detubularized and reconfigured ileocystoplasty beginning in 2000). RESULTS: A total of 413 patients were included in the study. At a median followup of 11.2 years 80.9% of the patients had undergone ileocystoplasty and 44.1% had undergone 370 additional surgeries. Ten-year risk of any reoperation was 43.9%, with 17.4% of patients undergoing 2 or more and 9.9% undergoing 3 or more additional surgeries. Outcomes included conversion to a diversion (2.7% at 10-year followup) and bladder stones (28.2% with recurrence in 52.4%) irrespective of detubularized reconfigured status (p ≥0.20). Bladder perforation risk was 9.6% for patients undergoing vs 23.7% for those not undergoing detubularized reconfigured ileocystoplasty (p=0.01). Similarly reaugmentation rate was 5.3% for patients undergoing vs 15.2% for those not undergoing detubularized reconfigured ileocystoplasty (p=0.001). Finally, 10-year reperforation risk was 32.1% for patients undergoing vs 73.8% for those not undergoing detubularized reconfigured ileocystoplasty (p=0.053). Other risks included bowel obstruction (4.5% with recurrence in 15.8%), nephrogenic adenoma (2.2% with regrowth in 48.2%) and malignancy (0.0% at 20 years). For 222 patients in the modern cohort (median followup 9.1 years) 10-year risk of any reoperation was 46.0%, which consisted of diversion in 4.0%, stones in 32.9% (recurrence in 44.5%), perforation in 8.8% (recurrence in 42.2%), reaugmentation in 4.3%, obstruction in 4.9% (recurrence in 10.0%), adenoma in 4.7% (regrowth in 40.0%) and cancer in 0.0%. CONCLUSIONS: Bladder augmentation is long-lasting. While benefiting continence and renal outcomes, this operation frequently requires additional surgeries, necessitating close followup. Since survival analysis based risks of alternative management options such as incontinent diversion are unavailable, comparisons with augmentation are unfeasible.

Beyond changing diapers: stress and decision-making among parents of girls with congenital adrenal hyperplasia seeking consultation about feminizing genital restoration surgery.

INTRODUCTION/BACKGROUND: The impact of having a child with atypical genitalia due to a life-threating chronic medical condition like congenital adrenal hyperplasia (CAH) is poorly understood. OBJECTIVE: The aim of the study was to determine parental stress and impact of CAH on parental decisions, including decisions regarding female genital restoration surgery (FGRS). STUDY DESIGN: The authors surveyed consecutive parents of girls with CAH ≤3 years presenting at a tertiary referral center for FGRS consultation (2016-2019). The survey was developed by three families of daughters with CAH and six clinicians. Nine potentially stressful past experiences were rated on a 6-point Likert scale ('not at all' to 'extremely' stressful). Overall parental stress and strain (broader negative consequences) were reported using validated instruments (Perceived Stress Scale and Caregiver Strain Questionnaire Short Form, respectively). Impact of CAH on past decisions about childcare, social interactions, and who changes diapers were also assessed. Non-parametric tests were used for analysis. RESULTS: Twenty-nine parents (median age: 32years) of 22 consecutive children participated (Prader 3/4/5: 59.1%/36.4%/4.5%). After the study, 20 girls (90.9%) underwent FGRS at a median age of 8 months. The most stressful experiences were having an adrenal crisis ('very much' stressful), waiting for the CAH diagnosis, and making sense of the diagnosis (both 'quite a bit') (Figure 1). Remaining issues were 'somewhat' stressful. Deciding whether to proceed with FGRS was ranked as the least stressful issue. Overall parental stress was similar to overall stress previously reported by spousal caregivers of stroke or heart failure survivors (P ≥ 0.15). Overall parental strain was similar to parents of adolescents receiving mental health counseling (P = 0.77). Congenital adrenal hyperplasia impacted decisions about babysitting, daycare, who changed diapers, and choosing a pediatrician (P ≤ 0.02), but did not impact parental social interactions (P ≥ 0.11). Diapers were typically changed by parents (100.0%) and grandmothers (50.0%). Parents anticipated that some individuals currently not allowed to change diapers would be allowed after FGRS: grandfathers (+18.2%), aunts/uncles (+27.3-32.8%), cousins (+18.2%), and family friends (+45.5%). DISCUSSION: The authors present the first assessment of parental stress with respect to different aspects of care of a daughter with CAH. Larger studies are required to determine if the parental stress associated with these experiences varies over time and how these stressors rank relative to each other through the child's development. CONCLUSION: Parents experience multiple stressors after having a daughter with CAH. Parental stress surrounding a decision about FGRS appears less severe than events pertaining to the diagnosis and medical management of CAH. Congenital adrenal hyperplasia impacts multiple parental decisions.

Risk of Reaugmentation after Enterocystoplasty Using a Reconfigured Bowel Segment in Patients with Spina Bifida: A Bi-Institutional Cohort Study.

PURPOSE: Reaugmentation cystoplasty rates vary in the literature but have been reported as high as 15%. It is likely that bladders augmented with detubularized and reconfigured bowel are less likely to require reaugmentation. We assessed the incidence of reaugmentation among patients with spina bifida at 2 high volume reconstruction centers. MATERIALS AND METHODS: We retrospectively reviewed medical records of patients with spina bifida who underwent enterocystoplasty before age 21 years (1987 to 2017). Those who did not undergo augmentation with a detubularized and reconfigured bowel segment were excluded from analysis. Data on demographic and surgical variables were collected. Reaugmentation was the main outcome. One analysis was performed using the entire cohort and another analysis was restricted to patients with ileocystoplasty performed in the last 15 years (2002 to 2017). Survival analysis was used. RESULTS: A total of 289 patients were identified. Enterocystoplasty was performed in patients at a median age of 8.1 years (median followup 11.3, IQR 5.2-14.9). Most initial augmentations were performed using ileum (93.4%), followed by sigmoid (6.2%). Seven patients underwent reaugmentation, including 6 with initial augmentation using ileum and 1 with initial augmentation using sigmoid. On survival analysis risk of reaugmentation was 1.1% at 5 years and 3.3% at 10 years after the original surgery. All reaugmentations occurred within the first 9 years of followup. In the more contemporary cohort (162, median followup 7.0 years) only 1 patient underwent reaugmentation at 2.0 years. CONCLUSIONS: The risk of reaugmentation after enterocystoplasty with a detubularized and reconfigured bowel in the spina bifida population is lower than that reported in initial series.

Validation and Preliminary Results of the Parental Assessment of Children's External Genitalia Scale for Females (PACE-F) for Girls With Congenital Adrenal Hyperplasia.

OBJECTIVE: To validate a parental assessment of children's external genitalia scale for females (PACE-F) for girls with congenital adrenal hyperplasia (CAH) by adapting the validated adult female genital self-image scale. METHODS: PACE-F was administered to parents of girls (Tanner 1, 2 months-12 years) with and without CAH. Final questions were determined by clinical relevance and psychometric properties (scores: 0-100). A reference range was established using 95% confidence interval among controls. Age-matched controls were compared to girls with CAH (1) <4 years old before and after female genital reconstruction surgery (FGRS), and (2) 4-12-year olds after FGRS. Nonparametric statistics were used. RESULTS: Participants included 56 parents of 41 girls with CAH (median 3.9 years old, 97.6% FGRS) and 139 parents of 130 girls without CAH. Face and content validity was established by families, experts, and factor analysis. Internal consistency was high (Cronbach's alpha: 0.83). Population reference score range was 66.7-100. Ten consecutive girls had pre- and post-FGRS PACE-F scores. All scores improved at 4 months after surgery and all preoperative scores were below reference range and lower than controls (P = .0001). All postoperative scores were within reference range, no different from controls (P = .18). Scores for girls with CAH after FGRS aged 4-12 years were no different from controls (100.0 vs 88.9, P = .77) and 90.0% were in reference range, as expected (P = .99). CONCLUSION: We present a validated instrument for parental assessment of genital appearance in girls with CAH. We demonstrate improved parent-reported appearance after FGRS, with scores similar to age-matched controls.

Radiographic abnormalities, bladder interventions, and bladder surgery in the first decade of life in children with spina bifida.

BACKGROUND: Spina bifida (SB) patients are at increased risk for hydronephrosis, bladder storage and emptying problems, and renal failure that may require multiple bladder surgeries. METHODS: We retrospectively reviewed patients born with SB 2005-2009, presenting to our institution within 1 year of birth. Outcomes at 8-11 years old included final renal/bladder ultrasound (RBUS) results, clean intermittent catheterization (CIC) use, anticholinergic use, surgical interventions, and final renal function. We excluded those without follow-up past age 8 and/or no RBUS or fluoroscopic urodynamic images (FUI) within the first year of life. Imaging was independently reviewed by four pediatric urologists blinded to radiologists' interpretation and initial findings compared with final outcomes. RESULTS: Of 98 children, 62 met inclusion criteria (48% male, 76% shunted). Median age at last follow-up was 9.6 years. Upon initial imaging, 74% had hydronephrosis (≥ SFU grade 1), decreasing to 5% at 10 years (p < 0.0001). Initially, 9% had ≥ SFU grade 3 hydronephrosis, decreasing to 2% (p = 0.13). CIC and anticholinergic use increased from 61% and 37% to 87% and 86%, respectively (p = 0.001 and p < 0.0001, respectively). With follow-up, 55% had surgical intervention and 23% had an augmentation. Of children with a serum creatinine/cystatin-C at 8-11 years old, one had confirmed chronic kidney disease (stage 2). CONCLUSIONS: Despite initial high incidence of hydronephrosis, this was low grade and resolved in the first decade of life. Additionally, the 8-11-year incidence of kidney disease and upper tract changes was low due to aggressive medical management.

Incontinence affects health-related quality of life in children and adolescents with spina bifida.

PURPOSE: Despite devoting many resources to managing urinary and fecal incontinence (UI and FI) in children with spina bifida (SB), it remains unclear whether either is associated with lower health-related quality of life (HRQOL). We sought to determine the impact of UI and FI on HRQOL in this population. MATERIALS AND METHODS: Children with SB (8-17 years) living in the United States were surveyed online and in SB clinics (2013-15). We evaluated incontinence over the previous 4 weeks using a UI dry interval (<4 h, ≥4 h), FI clean interval (<1 week, ≥ 1 week), and self-reported amount of UI and FI (for each: a lot, medium, a little, none). HRQOL was assessed with QUALAS, a validated SB-specific instrument. Linear regression was used. RESULTS: The mean age of 298 children was 12.5 years (52.0% male). Overall, 73.1% had UI, 52.3% had FI, and 43.6% had both. Adjusting for concurrent UI and FI, any UI was associated with lower HRQOL in 14-17 year olds (p < 0.0001) and 10-13 year olds (p = 0.048), but not 8-9 year olds (p = 0.98) (Figure). All age groups reported lower HRQOL with FI (p ≤ 0.0001). On multivariate analysis, UI and FI incontinence intervals were not associated with lower HRQOL for any age group (p ≥ 0.58 and p ≥ 0.10, respectively). Higher quantities of UI were associated with ever-lower HRQOL, particularly in 14-17 year olds (p ≤ 0.02). Any quantity of FI was associated with lower HRQOL in all ages. The findings did not change significantly on exploratory analysis correcting for demographic and clinical variables. DISCUSSION: We report the first evidence that incontinence matters to children and adolescents with SB. Being a cross-sectional study, we were unable to track HRQOL over time. A prospective study is required to assess if HRQOL impact of UI indeed changes as a child grows up and if improving incontinence with treatments improves HRQOL. Findings are similar to those reported in adults with SB and suggest that the concept of "social continence" based on time interval has no HRQOL relevance in children, adolescents or adults with SB. CONCLUSIONS: UI is negatively associated with HRQOL in children with SB in an age-dependent fashion: starting in 10 year olds and increasing until 14 years. FI correlates with lower HRQOL regardless of age. Similar to findings in adults with SB, HRQOL is lower with increasing amounts of UI and not the length of a dry interval. FI impacts HRQOL uniformly, regardless of frequency or amount.

Characteristics of Female Genital Restoration Surgery for Congenital Adrenal Hyperplasia Using a Large-scale Administrative Database.

OBJECTIVE: To analyze nationwide information on the timing of surgical procedures, cost of surgery, hospital length of stay following surgery, and surgical complications of female genital restoration surgery (FGRS) in females with congenital adrenal hyperplasia (CAH). MATERIALS AND METHODS: We used the Pediatric Health Information System database to identify patients with CAH who underwent their initial FGRS in 2004-2014. These patients were identified by an International Classification of Diseases, Ninth Revision (ICD-9) diagnosis code for adrenogenital disorders (255.2) in addition to a vaginal ICD-9 procedure code (70.x, excluding vaginoscopy only) or perineal ICD-9 procedure code (71.x), which includes clitoral operations (71.4). RESULTS: A total of 544 (11.8%) females underwent FGRS between 2004 and 2014. Median age at initial surgery was 9.9 months (interquartile range 6.8-19.1 months). Ninety-two percent underwent a vaginal procedure, 48% underwent a clitoral procedure, and 85% underwent a perineal procedure (non-clitoral). The mean length of stay was 2.5 days (standard deviation 2.5 days). The mean cost of care was $12,258 (median $9,558). Thirty-day readmission rate was 13.8%. Two percent underwent reoperation before discharge, and 1 (0.2%) was readmitted for a reoperation within 30 days. Four percent had a perioperative surgical complication. CONCLUSION: Overall, 12% of girls with CAH underwent FGRS at one of a national collaborative of freestanding children's hospitals. The majority underwent a vaginoplasty as a part of their initial FGRS for CAH. Clitoroplasty was performed on less than half the patients. Overall, FGRS for CAH is performed at a median age of 10 months and has low 30-day complication and immediate reoperation rates.

Parental decisional regret and views about optimal timing of female genital restoration surgery in congenital adrenal hyperplasia.

PURPOSE: The role of female genital restoration surgery (FGRS) in girls with congenital adrenal hyperplasia (CAH) is controversial, with no long-term parent-reported outcomes available. Decisional regret (DR) affects most parents after their children's treatment of pediatric conditions, including hypospadias. We aimed to assess parental DR after FGRS in infancy or toddlerhood and explore optimal timing for surgery. MATERIALS AND METHODS: One-hundred and six parents of females with CAH undergoing FGRS before 3 years old and followed at our institution (1999-2017) were invited to enroll online. Higher Decision Regret Scale (DRS) scores indicated greater DR (range 0-100). Participants also reported preferred FGRS timing relative to their surgery (earlier, same, later/delayed). Non-parametric statistical tests were used. RESULTS: Thirty-nine parents (median 4.4 years after FGRS) participated (36.8% response rate). Median age at FGRS was 9 months. Median DRS score was 0 (mean: 5.0). Overall, 20.5% of parents reported some regret (all mild-moderate) (Figure). Fewer parents reported DR after FGRS compared with published DR after hypospadias repair (50-92%, p ≤ 0.001) or adenotonsillectomy (41-45%, p ≤ 0.03). No parent preferred delayed FGRS. Seven parents (18.1%) preferred earlier surgery, especially when performed after birthday (80.0% vs. 8.8%, p = 0.004). DISCUSSION: We present the first report of validated long-term parent-reported outcomes after FGRS in infant and toddler girls with CAH. One limitation is that this is largely a single surgeon series. Reasons for the observed low levels of DR are likely multifactorial. Far from a definitive study, we aimed to provide parents willing to share about their experience an opportunity to do so. For that reason, selection bias may exist in our study. While parents with higher DR were potentially less likely to participate because of mistrust of the medical establishment, those with a negative experience may in fact be more likely to voice their opinions. A low participation rate was likely a result of the sensitive nature of FGRS, a desire for privacy, and inability to locate parents. A larger study will be required to assess how DR is affected by sexual function, genital appearance and complications, and DR among women with CAH. CONCLUSIONS: Parents of females with CAH report low levels of DR after FGRS in infancy and toddlerhood. This appears to be lower than after other genital and non-genital pediatric procedures. When present, parental DR is usually mild. No parents preferred delayed surgery, even among those with DR. Some preferred earlier surgery.