Trajectories of illness uncertainty among parents of children with atypical genital appearance due to differences of sex development.

OBJECTIVE: The present study aimed to identify distinct trajectories of parental illness uncertainty among parents of children born with atypical genital appearance due to a difference of sex development over the first year following diagnosis. It was hypothesized that four trajectory classes would emerge, including "low stable," "high stable," "decreasing," and "increasing" classes, and that select demographic, familial, and medical factors would predict these classes. METHODS: Participants included 56 mothers and 43 fathers of 57 children born with moderate to severe genital atypia. Participants were recruited from eleven specialty clinics across the U.S. Growth mixture modeling (GMM) approaches, controlling for parent dyad clustering, were conducted to examine classes of parental illness uncertainty ratings over time. RESULTS: A three-class GMM was identified as the best-fitting model. The three classes were interpreted as "moderate stable" (56.8%), "low stable" (33.0%), and "declining" (10.3%). Findings suggest possible diagnostic differences across trajectories. CONCLUSIONS: Findings highlight the nature of parents' perceptions of ambiguity and uncertainty about their child's diagnosis and treatment the year following their child's birth/diagnosis. Future research is needed to better understand how these trajectories might shift over the course of the child's development. Results support the development of tailored, evidence-based interventions to address coping with uncertainty among families raising a child with chronic health needs.

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.

The real world experience of pediatric primary hyperoxaluria patients in the PEDSnet clinical research network.

The rarity of primary hyperoxaluria (PH) challenges our understanding of the disease. The purpose of our study was to describe the course of clinical care in a United States cohort of PH pediatric patients, highlighting health service utilization. We performed a retrospective cohort study of PH patients < 18 years old in the PEDSnet clinical research network from 2009 to 2021. Outcomes queried included diagnostic imaging and testing related to known organ involvement of PH, surgical and medical interventions specific to PH-related renal disease, and select PH-related hospital service utilization. Outcomes were evaluated relative to cohort entrance date (CED), defined as date of first PH-related diagnostic code. Thirty-three patients were identified: 23 with PH type 1; 4 with PH type 2; 6 with PH type 3. Median age at CED was 5.0 years (IQR 1.4, 9.3 years) with the majority being non-Hispanic white (73%) males (70%). Median follow-up between CED and most recent encounter was 5.1 years (IQR 1.2, 6.8). Nephrology and Urology were the most common specialties involved in care, with low utilization of other sub-specialties (12%-36%). Most patients (82%) had diagnostic imaging used to evaluate kidney stones; 11 (33%) had studies of extra-renal involvement. Stone surgery was performed in 15 (46%) patients. Four patients (12%) required dialysis, begun in all prior to CED; four patients required renal or renal/liver transplant.    Conclusion: In this large cohort of U.S. PH children, patients required heavy health care utilization with room for improvement in involving multi-disciplinary specialists. What is Known: • Primary hyperoxaluria (PH) is rare with significant implications on patient health. Typical involvement includes the kidneys; however, extra-renal manifestations occur. • Most large population studies describe clinical manifestations and involve registries. What is New: • We report the clinical journey, particularly related to diagnostic studies, interventions, multispecialty involvement, and hospital utilization, of a large cohort of PH pediatric patients in the PEDSnet clinical research network. • There are missed opportunities, particularly in that of specialty care, that could help in the diagnosis, treatment, and even prevention of known clinical manifestations.

Adverse Birth Experiences and Parent Adjustment Associated With Atypical Genital Appearance Due to Differences of Sex Development.

OBJECTIVE: Differences/disorders of sex development (DSDs) are rare, congenital conditions involving discordance between chromosomes, gonads, and phenotypic sex and are often diagnosed in infancy. A key subset of parents of children newly diagnosed with a DSD experience clinically elevated distress. The present study examines the relationship between perinatal factors (i.e., gestational age, delivery method) and trajectories of parental adjustment. METHODS: Parent participants (mothers = 37; fathers = 27) completed measures at baseline, 6- and 12-month follow-up. Multilevel linear regression controlled for clustering of the data at three levels (i.e., time point, parent, and family) and examined the relationship between perinatal factors and trajectories of depressive and anxious symptoms. Two-way interactions between perinatal factors and parent type were evaluated. RESULTS: Overall depressive and anxious symptoms decreased over time. There were significant interactions between gestational age and parent type for depressive and anxious symptoms, with younger gestational age having a stronger negative effect on mothers vs. fathers. There was a significant interaction between time and gestational age for depressive symptoms, with 36 weeks' gestational age demonstrating a higher overall trajectory of depressive symptoms across time compared to 38 and 40 weeks. Findings for the delivery method were not significant. CONCLUSIONS: Findings uniquely demonstrated younger gestational age was associated with increased depressive symptoms, particularly for mothers compared to fathers. Thus, a more premature birth may predispose parents of infants with DSD to distress. Psychosocial providers should contextualize early diagnosis-related discussions within stressful birth experiences when providing support.

Decisional regret about surgical and non-surgical issues after genitoplasty among caregivers of female infants with CAH.

INTRODUCTION: Caregivers of female infants with congenital adrenal hyperplasia (CAH) often confront complex medical decision-making (e.g., early feminizing genitoplasty). OBJECTIVE: This study aimed to evaluate the relevant medical decisions and subsequent decisional regret of caregivers following their child's genitoplasty. STUDY DESIGN: Caregivers (N = 55) were recruited from multidisciplinary treatment programs for participation in a longitudinal study. Qualitative data was collected at 6-12 months following feminizing genitoplasty to evaluate caregiver-reported decision points across their child's treatment. Quantitative exploratory analysis evaluated pre-operative predictors of subsequent decisional regret. DISCUSSION: When prompted about their decision-making and potential regret, most caregivers (n = 32, 80%) reported that their daughter's genital surgery was their primary medical decision. Specific themes regarding genital surgery included the timing and type of surgery. Most caregivers reported no decisional regret (62%), with 38% reporting some level of regret. Greater pre-operative illness uncertainty predicted heightened decisional regret at follow-up, p = .001. CONCLUSION: Two-thirds of caregivers of female infants with CAH reported not regretting their decision-making. Nevertheless, over one-third of caregivers reported some level of regret, suggesting the need for improvements in shared decision-making processes. Many, but not all, families reported that this regret was related to surgical decision-making. Reducing caregiver illness uncertainty (e.g., providing clear information to families) may increase their satisfaction with decision-making. Further research is needed to determine how the evolving care practices surrounding early genitoplasty will impact families.

Infantile scrotal hemangioma with transverse testicular ectopia.

Transverse testicular ectopia is a rare structural anomaly of abnormal testicular descent. We report a case of a 3-month-old boy with hemiscrotal infantile hemangioma and contralateral transverse testicular ectopia.

Fibroepithelial polyp causing urethral obstruction: Diagnosis by cystourethrogram.

Fibroepithelial polyps of the urethra are rare benign tumors that predominantly affect males in childhood or adolescence. In this report, we present a case of a 3-year-old boy in acute urinary retention with a urethral fibroepithelial polyp manifesting as a large filling defect on voiding cystourethrogram and successfully managed endoscopically with transurethral resection.

Bladder Recurrence of Clear Cell Sarcoma of the Kidney Seven Years After Initial Presentation.

Clear cell sarcoma of the kidney (CCSK) is the second most common pediatric renal malignancy after Wilms tumor. CCSK has the potential to metastasize to distant sites and was historically known as the bone metastasizing renal tumor. We report an exceedingly rare case of a bladder recurrence of CCSK. Our patient presented with gross hematuria 7 years after initial complete response. He was found to have a large sessile bladder tumor and underwent a partial cystectomy with right pelvic lymph node dissection. Final pathology was metastatic CCSK.

Adult hypospadias: urethral and penile reconstruction.

PURPOSE OF REVIEW: This article provides a subjective, concise review of contemporary advances in reconstructive urology as it pertains to adult hypospadias repair. Herein, we highlight the most important and interesting articles among the many published within the past 12 months. RECENT FINDINGS: The main themes in the recent literature covered herein, include management of postoperative complications, long-term follow-up, and penile cosmesis. SUMMARY: Recent literature would suggest beauty is in the eye of the beholder when it comes to cosmesis after hypospadias repair. Long-term data are reassuring regarding uroflow improvement through puberty and into adulthood for common distal shaft hypospadias repairs.

Long-term efficacy and durability of botulinum-A toxin for refractory dysfunctional voiding in children.

PURPOSE: We evaluated our long-term experience with intrasphincteric botulinum toxin A injection in children with dysfunctional voiding. MATERIALS AND METHODS: From January 2006 through July 2012 we saw 2,172 neurologically normal children due to dysfunctional voiding. Of patients who presented to these visits we retrospectively identified the charts of 12 with dysfunctional voiding (8 females) in whom urotherapy and medical management failed and who underwent botulinum toxin A injection to the external urinary sphincter. Mean patient age at surgery was 10.5 years (range 4 to 19). Average followup was 45 months (range 20 to 71). Preoperatively and postoperatively all children were evaluated with history and physical examination, voiding diary, renal and pelvic ultrasound with post-void residual volume measurement and uroflowmetry. RESULTS: Eight of the 12 children (67%) experienced significant improvement in voiding parameters. Before vs after treatment mean ± SD post-void residual urine volume was 115 ± 83 vs 57 ± 61 ml (p = 0.016) and the mean maximum flow rate was 11.8 ± 8.1 vs 20.4 ± 7.9 ml per second. Half of the cohort required a second injection an average of 15 months later. Three of the 4 patients who failed to show improvement had neuropsychiatric problems and 1 had evidence of bladder underactivity. CONCLUSIONS: Our results demonstrate reasonable efficacy and durability of intrasphincteric botulinum toxin A injection in children with refractory dysfunctional voiding. Neuropsychiatric issues appear to negatively influence the success rate. Long-term followup is vital to identify patients in whom repeat injection may be necessary.

Psychosocial comorbidities and obesity are associated with lower urinary tract symptoms in children with voiding dysfunction.

PURPOSE: There is emerging awareness of comorbid psychosocial characteristics in children with lower urinary tract dysfunction. To explore the prevalence of these comorbidities and their relationship to lower urinary tract symptoms, we examined the psychosocial comorbidities and body mass index of children with lower urinary tract dysfunction. MATERIALS AND METHODS: We prospectively collected data on all new patients 6 to 17 years old with nonneurogenic lower urinary tract dysfunction who presented to a single nurse practitioner in 2011. Parents completed a 21-question lower urinary tract symptom score based on a validated questionnaire and a psychosocial questionnaire that screened for stressful life events and psychological diagnoses. We examined the correlation of body mass index percentile and psychosocial comorbidities with lower urinary tract symptom score. RESULTS: Of the 358 patients 28.5% were obese, 31.8% had a recent life stressor and 22.9% had a comorbid psychiatric disorder. Younger age correlated with a higher lower urinary tract symptom score (r = -0.34, p <0.0001). Children with a recent life stressor (p = 0.049), psychiatric disorder (p = 0.0026) or the 2 comorbidities (p = 0.039) had a significantly higher lower urinary tract symptom score than children without comorbidities. Underweight and obese children had a significantly higher lower urinary tract symptom score than healthy weight and overweight children (p = 0.009). CONCLUSIONS: Almost a third of the patients in our study were obese. More than 40% of the children had a psychiatric disorder and/or recent life stressor. Younger age, an underweight or obese body mass index and a recent stressful life event or psychiatric disorder correlated with a higher lower urinary tract symptom score. This study supports previous recommendations to screen for psychosocial comorbidities and obesity during the evaluation of pediatric lower urinary tract dysfunction.

Endopyelotomy for pediatric ureteropelvic junction obstruction: a review of our 25-year experience.

PURPOSE: We elucidate the role of endopyelotomy as a primary and secondary intervention for ureteropelvic junction obstruction in children. MATERIALS AND METHODS: We retrospectively identified 79 pediatric patients who underwent endopyelotomy for ureteropelvic junction obstruction between 1986 and 2011. Eleven patients were lost to followup and were excluded from analysis. Patient demographics, operative information, complications and success rates were reviewed for the remaining 68 patients. Treatment success was defined as the absence of symptom recurrence and improved radiographic features on ultrasound, computerized tomography, diuretic renogram or excretory urogram at most recent followup. RESULTS: Primary endopyelotomy data were analyzed in 37 patients with a median age of 11.1 years. The success rate was 65% at a median followup of 34 months (range 1.5 to 242). Treatment failure occurred in 13 patients with a median time to failure of 8 months (range 1.5 to 131). There were 8 cases of failure during 12 months of surgery. Secondary endopyelotomy data were analyzed in 31 patients with a median age of 6.5 years. The success rate was 94% at a median followup of 61 months (range 1 to 204). Treatment failure occurred in 2 patients at 1 and 6 months. Approximately two-thirds of all procedures used an antegrade approach. CONCLUSIONS: Primary endopyelotomy is significantly less successful than pyeloplasty in the treatment of ureteropelvic junction obstruction in pediatric patients. However, secondary endopyelotomy following failed pyeloplasty represents a viable alternative to redo pyeloplasty.

The efficacy of oral midazolam for decreasing anxiety in children undergoing voiding cystourethrogram: a randomized, double-blind, placebo controlled study.

PURPOSE: Voiding cystourethrogram is an invasive test that evokes anxiety. Our primary aim was to determine whether midazolam is beneficial in decreasing anxiety in children who undergo voiding cystourethrogram. Secondary aims were an examination of parent anxiety, health care professional perceptions and post-procedure behavioral outcomes in children after voiding cystourethrogram. MATERIALS AND METHODS: A total of 44 children were randomized to placebo or oral midazolam before voiding cystourethrogram in double-blind fashion. The Modified Yale Preoperative Anxiety Scale was used to evaluate child behavior before and during voiding cystourethrogram, and the Post Hospitalization Behavior Questionnaire was used to investigate any short-term and intermediate-term behavioral outcomes. The State-Trait Anxiety Inventory was used to evaluate parent personal anxiety during voiding cystourethrogram. A separate questionnaire was administered to radiology staff. Statistical analysis included the 2-sample t and Fisher exact tests. RESULTS: There was no difference in Modified Yale Preoperative Anxiety Scale scores in children randomized to midazolam or placebo. There was also no significant difference in parent anxiety. Radiology care providers identified no reliable benefit when blinded to sedation vs placebo. We did not note any post-procedural behavior issues after voiding cystourethrogram at up to 6 months of followup. CONCLUSIONS: Midazolam may not significantly help with child or parent anxiety during voiding cystourethrogram. No reliable benefit was noted according to radiology health care provider perception and there was no significant post-procedural behavior benefit. Midazolam may not provide a significant benefit in decreasing anxiety during voiding cystourethrogram.

Efficacy and safety of transdermal and oral oxybutynin in children with neurogenic detrusor overactivity.

PURPOSE: We evaluated the efficacy and safety of transdermal and oral oxybutynin in children with neurogenic detrusor overactivity. MATERIALS AND METHODS: Children with neurogenic detrusor overactivity 6 to 15 years old and previously receiving oxybutynin were assigned randomly at a 3:1 ratio to treatment with transdermal or oral oxybutynin. Initial dosages (transdermal 1.3, 2.9 or 3.9 mg daily; oral 5, 10 or 15 mg daily), based on pre-study dosages, were adjusted after 2 weeks and then maintained for 12 weeks. The primary efficacy end point was change from baseline to last observation in average urine volume collected by clean intermittent catheterization. RESULTS: A total of 57 patients were randomized to receive transdermal (41) or oral (16) oxybutynin. Safety data were available for 55 patients and efficacy data were available for 52. Mean +/- SD urine volume increased from 95 +/- 64 ml to 125 +/- 74 ml (p <0.001) with transdermal oxybutynin and from 114 +/- 75 ml to 166 +/- 92 ml (p = 0.002) with oral oxybutynin. Transdermal oxybutynin resulted in significant improvement in all measured urodynamic parameters. Similar trends and a significant increase in maximal cystometric bladder capacity were observed in the smaller oral oxybutynin group. There were 12 treatment related adverse events noted with transdermal oxybutynin (mild skin reaction) and 1 with oral oxybutynin (vasodilatation). The ratio of N-desethyloxybutynin-to-oxybutynin plasma concentrations was substantially lower with transdermal (1.4) than with oral (6.7) oxybutynin. CONCLUSIONS: Transdermal oxybutynin was a well tolerated and effective alternative to oral oxybutynin in treating neurogenic detrusor overactivity in children who previously tolerated oxybutynin.

Impact of wait time on outcome for inguinal hernia repair in infants.

BACKGROUND: Prolonged surgical wait times are a problem in many health care systems. We used data from two pediatric surgical centers, one Canadian and one American, in order to determine if increased wait times are related to rates of incarceration and adverse outcomes. METHODS: Data were collected for children under the age of 2 who presented with an inguinal hernia to either the emergency department or clinic in the two hospitals in 2002 and 2003. RESULTS: Infants in the Canadian center were older at presentation and were more likely to present to the emergency department. Wait time for hernia repair was longer in the Canadian than the American hospital (99 +/- 103 vs. 27 +/- 53 days, P < 0.001). The incidence of incarceration was higher in the Canadian hospital, and infants in the Canadian center were more likely to have episodes of recurrent incarceration. Emergency department usage was greater in the Canadian hospital both at the time of diagnosis as well as during the waiting period for surgery. DISCUSSION: Prolonged wait time for inguinal hernia repair in infants is associated with a higher rate of incarceration as well as greater usage of emergency department resources. These data are important for those surgeons working in systems with limited resources in which strategies to shorten wait times are necessary.

Combination therapy with desmopressin and an anticholinergic medication for nonresponders to desmopressin for monosymptomatic nocturnal enuresis: a randomized, double-blind, placebo-controlled trial.

OBJECTIVE: Desmopressin is an approved medical therapy for the treatment of monosymptomatic primary nocturnal enuresis. In cases of limited response to desmopressin, we have added anticholinergic therapy to desmopressin (combination therapy). To evaluate this treatment strategy, we examined the efficacy of combination therapy for primary nocturnal enuresis in desmopressin-nonresponders. METHODS: Only patients with primary nocturnal enuresis refractory to the maximal dosage of desmopressin were enrolled. Children with lower urinary tract symptoms or bowel dysfunction were excluded, on the basis of a 3-day, 24-hour, frequency-volume chart and elimination record. Children continued to take desmopressin and were assigned randomly, in a double-blind manner, to receive either extended-release anticholinergic medication or placebo. Patients were reassessed after 1 month of therapy, with a 1-week nocturnal record. RESULTS: Forty-one desmopressin-nonresponders were enrolled, and 7 patients were excluded because of noncompliance. The treatment groups were equally matched with respect to age, gender, functional bladder capacity, and number of wet nights per week. After 1 month of treatment, there was a significant reduction in the mean number of wet nights in the combination therapy group, compared with the placebo group. With a generalized estimating equation approach, there was a significant 66% decrease in the risk of a wet episode, compared with the placebo group. CONCLUSIONS: This study represents the first prospective, placebo-controlled trial examining the effect of desmopressin in combination with long-acting, anticholinergic, bladder-relaxing therapy for monosymptomatic primary nocturnal enuresis.

The incidence of disorders of sexual differentiation and chromosomal abnormalities of cryptorchidism and hypospadias stratified by meatal location.

PURPOSE: Routine karyotype analysis has been recommended for patients with cryptorchidism and hypospadias. However, it is unclear whether karyotyping should be obtained in all patients, or tailored to the severity or degree of hypospadias. Therefore, we analyzed the incidence of chromosomal abnormalities in patients with distal or proximal hypospadias and concomitant cryptorchidism. MATERIALS AND METHODS: We reviewed the records of patients with cryptorchidism and hypospadias treated at a pediatric hospital between 1994 and 2006. Data collected included karyotype analysis, gonad palpability, and meatal and testes location at time of surgery. Patients with retractile testes and congenital adrenal hyperplasia were excluded from analysis. RESULTS: We identified 44 patients with hypospadias and cryptorchidism (26 with proximal and 18 with distal hypospadias). Karyotype information was available in 25 patients (19 with proximal and 6 with distal hypospadias). None of the patients with distal hypospadias and cryptorchidism had an abnormality of a sex chromosome. In contrast, chromosomal abnormalities were present in 6 of 19 individuals (32%) with proximal hypospadias and cryptorchidism. The most common abnormality was mixed gonadal dysgenesis in 3 patients, followed by autosomal translocations in 2 and 48XY aneuploidy in 1. CONCLUSIONS: When karyotype information was stratified by meatal location with cryptorchidism we found no significant chromosomal abnormalities in distal hypospadias and cryptorchidism, whereas a third of patients with proximal hypospadias and cryptorchidism had an abnormal karyotype. Karyotype analysis appears to be important in individuals with cryptorchidism and proximal hypospadias but of little benefit in patients with distal hypospadias and palpable undescended testes.