Barriers to Transitional Care in Spina Bifida.

The health care needs children with spina bifida evolve over their lifetime; continued, regular contact with appropraitely trained, multidisciplinary providers is crucial to a patient's health and quality of life. Substantial research has been conducted to improve the transition process starting at an early age; however, there continue to be strong barriers to successful transition. This article reviews key aspects of the care of patients with spina bifida, the impact of inadequate transition to adult care, barriers to transition, and offers a potential vision for the future.

Long term outcomes in classic bladder exstrophy - The adult picture.

With continued improvements in medical care and surgical reconstruction, more patients with classic bladder exstrophy (CBE) are living into adulthood, than ever before. With improved survival, a greater emphasis on adult issues and improving quality of life (QOL) for these individuals is of increasing importance. This review aims to summarize data on long-term considerations for the adult with exstrophy and to highlight areas of future research and collaboration. Key conclusions are that continence or dryness are achievable alongside the ability to enjoy sexual relationships and a good quality of life.

Considerations and Outcomes for Adolescents and Young Adults With Cloacal Anomalies: A Scoping Review of Urologic, Colorectal, Gynecologic and Psychosocial Concerns.

The objective of this scoping review is to provide a summary of the current literature regarding adolescents and young adults with histories of cloacal anomalies. Preferred Reporting Items for Systematic Reviews and Meta-analysis Extension for Scoping Reviews were used. Data were categorized into four domains-urologic, colorectal, gynecologic/obstetric, and sexual/psychosocial. The current literature has poor study quality and mostly consists of retrospective studies of small cohorts with varying definitions of outcomes. Women with cloacal anomalies are at high risk for urologic dysfunction but can maintain kidney health and achieve social continence with medical and surgical management. Sexual function and adult healthcare transition are areas ripe for improved future research.

Unrepaired cloacal exstrophy in an adult: Medical and ethical considerations.

Cloacal exstrophy, also known as OEIS complex, is a rare condition, comprised of severe congenital anomalies. This case report describes a 24-year-old 46,XY individual who had repair of the omphalocele at birth, but has remained with an unrepaired bladder exstrophy. This case highlights the intersections between medical decision-making, individualized management of complex patients, and ethical considerations for adults lacking capacity.

An observational study on the sexual, genital and fertility outcomes in bladder exstrophy and epispadias patients.

INTRODUCTION: Bladder exstrophy and epispadias complex (BEEC) is a spectrum of congenital malformations ranging from an isolated epispadias to a full exstrophy. It is an uncommon disease and little is known on how patients cope with its implications later in life. OBJECTIVE: The goal of this study is to assess the sexual, continence and fertility outcomes of BEEC patients, who had reconstructive bladder surgery during childhood. Considering the sensitive nature of these topics, they are not easily spoken about in the doctor's office. Our aim is to shed some light on possible points of improvement in follow-up. STUDY DESIGN: 63 patients between 18 and 45 years old were sent an electronic questionnaire based on previous existing standardized questionnaires. They were asked about sexual and psychosexual wellbeing, urinary incontinence and fertility. Data from their medical files (medical history on previous surgeries). and questionnaire answers are linked through an anonymous subject number and put into an Excel file for descriptive representation. RESULTS: 22 men and 8 women filled in the questionnaire. All but 2 are sexually active. Reasons to avoid sexual activity are equally divided as BEEC-related and non-BEEC-related. Sexual satisfaction is lower in the male group due to problems with erection, ejaculation, condom usage and embarrassment about physical appearance. In females problems concerning pain and reaching orgasm are mentioned. 30% report depressive feelings. There is a clear correlation between number of reconstructive surgeries and sexual satisfaction. 90% of patients urinate via catheterization, mostly through a Mitrofanoff connection. This leads to complications such as foul odors, infection, embarrassment and sexual dysfunction. 8 out of 13 men conceived a child (with the use of their own sperm), 2 out of 4 women did. DISCUSSION: A strength of this study is the use of standardized questionnaires which allow comparison to a control patient group. Our study is one of the first to show how patients cope with the challenges of BEEC by the use of open questions. We see an overall high quality of life yet an important impact on mental health. CONCLUSION: BEEC is associated with many challenges in the adult life of patients. A more holistic and interdisciplinary approach is needed to include sensitive topics in long term follow-up.

Hypospadias: lessons learned. An overview of incidence, epidemiology, surgery, research, complications, and outcomes.

Hypospadias is a common condition and familiar, though sometimes challenging territory for the pediatric urologist. This review is a summary of hypospadias incidence, epidemiology, surgery, research, and complications intended for the non-specialist. It outlines the history, the principles of surgery for hypospadias, and the long-term outcomes.

Retrospective analysis of bladder perforation risk in patients after augmentation cystoplasty using an extraperitoneal approach.

BACKGROUND: Initial management of pediatric patients with neurogenic bladder is focused on clean intermittent catheterization and medical therapies. Those with more hostile or small capacity bladders require surgical intervention including bladder augmentation that can result in significant clinical sequelae. This study examines a rarely described approach wherein the bladder reconstruction is extraperitonealized by bringing bowel segments through a peritoneal window and then closed. OBJECTIVE: The aim of this study was to determine if the rate of bladder rupture and subsequent morbidity differed between patients who have undergone an intraperitoneal versus extraperitoneal bladder augmentation. We hypothesized that an extraperitoneal approach reduced the risk of intraperitoneal bladder perforation, downstream Intensive Care Unit (ICU) admission, small bowel obstruction (SBO) requiring exploratory laparotomy, and ventriculoperitoneal (VP) shunt-related difficulties as compared to the standard intraperitoneal technique. METHODS: A retrospective chart review was conducted to assess surgical approach and outcomes in patients who underwent bladder augmentation performed between January 2009 and June 2021. Patients were identified through an existing database and manual chart review was conducted to extract data through imaging studies, operative notes, and clinical documentation. The primary outcome was bladder perforation. Secondary outcomes were ICU admission, exploratory laparotomy, and VP shunt externalization, infection, or revision for any cause. Nonparametric statistical analyses were performed. RESULTS: A total of 111 patients underwent bladder augmentation with 37 intraperitoneal and 74 extraperitoneal procedures. Median follow up was 5.8 years [IQR 3.0-8.6 years] and did not vary between groups (P = 0.67). Only one patient was found to have a bladder perforation in the intraperitoneal group (log-rank P = 0.154). There were no significant differences in time to post-augmentation ICU admission, exploratory laparotomy, or VP shunt events between the two groups (log-rank P = 0.294, log-rank P = 0.832, and log-rank P = 0.237, respectively). Furthermore, a Kaplan-Meier analysis assessing time to composite complication demonstrated no significant difference between the two techniques (log-rank P = 0.236). DISCUSSION: This study provides important data comparing the rate of bladder perforation and subsequent morbidity between intraperitoneal and extraperitoneal bladder augmentation. As expected, with a complex procedure, both groups suffered complications, but these data showed no difference between the two procedures. Rates of prior (abdominal) surgery may influence the decision to perform this procedure extraperitoneal. CONCLUSIONS: Outcomes related to bladder perforation and secondary consequences do not differ significantly between patients who had bladder augmentation performed with an intraperitoneal versus extraperitoneal approach. Given the low number of adverse events in this study, larger studies are warranted.

Reproductive and Family Building Considerations for Female Patients with Anorectal And Urogenital Malformations.

BACKGROUND: Little is known about fertility and pregnancy outcomes in patients with anorectal malformations (ARM), particularly those with long common channel cloaca and cloacal exstrophy who may have impaired fertility. The purpose of this study is to describe pregnancy and offspring data from a cohort of patients with ARM. METHODS: A retrospective review of female patients with ARM from our database, which includes patients operated on since 1980, was performed as well as a review of the literature. Demographic, operative, and self-reported fertility, obstetric, and offspring data were collected. RESULTS: There were 37 females identified in our database who reported any pregnancy or having children. There were 59 pregnancies, 48 (81.3%) of which resulted in live birth. The most common mode of delivery was cesarean delivery. There were five patients with long channel cloaca (>3 cm) and one with cloacal exstrophy that reported 11 total pregnancies, eight of which resulted in live birth. Four cloaca patients in which the native vagina was pulled through were able to conceive spontaneously. Three patients with cloacal anomalies required in vitro fertilization to conceive; one was unsuccessful. No patients who underwent bowel partial vaginal replacement became pregnant. Women with ARM face many unique challenges in assisted reproduction, pregnancy, and delivery owing to their anatomy and associated anomalies. CONCLUSIONS: Women with recto-perineal, recto-vestibular, and cloacas in which the native vagina was pulled through are capable of spontaneous pregnancy. Assisted reproduction, however, may be needed those with more complex anomalies and surgical repairs. LEVEL OF EVIDENCE: IV.

A Single-Center, Observational Study of 607 Children and Young People Presenting With Differences of Sex Development (DSD).

Context: Differences of sex development (DSD) represent a wide range of conditions presenting at different ages to various health professionals. Establishing a diagnosis, supporting the family, and developing a management plan are important. Objective: We aimed to better understand the presentation and prevalence of pediatric DSD. Methods: A retrospective, observational cohort study was undertaken in a single tertiary pediatric center of all children and young people (CYP) referred to a DSD multidisciplinary team over 25 years (1995-2019). In total, 607 CYP (520 regional referrals) were included. Data were analyzed for diagnosis, sex-assignment, age and mode of presentation, additional phenotypic features, mortality, and approximate point prevalence. Results: Among the 3 major DSD categories, sex chromosome DSD was diagnosed in 11.2% (68/607) (most commonly 45,X/46,XY mosaicism), 46,XY DSD in 61.1% (371/607) (multiple diagnoses often with associated features), while 46,XX DSD occurred in 27.7% (168/607) (often 21-hydroxylase deficiency). Most children (80.1%) presented as neonates, usually with atypical genitalia, adrenal insufficiency, undescended testes or hernias. Those presenting later had diverse features. Rarely, the diagnosis was made antenatally (3.8%, n = 23) or following incidental karyotyping/family history (n = 14). Mortality was surprisingly high in 46,XY children, usually due to complex associated features (46,XY girls, 8.3%; 46,XY boys, 2.7%). The approximate point prevalence of neonatal referrals for investigation of DSD was 1 in 6347 births, and 1 in 5101 overall throughout childhood. Conclusion: DSD represent a diverse range of conditions that can present at different ages. Pathways for expert diagnosis and management are important to optimize care.

Sexual function and fertility of adult males with anorectal malformations or Hirschsprung disease.

PURPOSE: The long-term impact of anorectal malformations (ARM) and Hirschsprung disease (HD) on sexual function is well recognized but understudied. This study evaluated self-reported sexual and fertility outcomes in adult males with ARM and HD. METHODS: This was an IRB approved, prospective study of males in the Adult Colorectal Research Registry who completed surveys between October 2019 and March 2022. Electronic surveys were administered after consenting to being contacted for research. Patients completed the International Index of Erectile Function (IIEF) questionnaire and provided information on fertility outcomes. RESULTS: Sixty-five patients completed outcome questionnaires: 11 (16.9%) had HD and 54 (83.1%) had an ARM. Nineteen patients reported some degree of erectile dysfunction per IIEF criteria, a greater proportion of whom have ARM (p = 0.046). Twenty (30.7%) have reported having children; there were no differences in rates between HD and ARM patients. Most patients had not attempted to conceive, but eight patients, all of whom have ARM, have pursued fertility investigation or treatments. CONCLUSION: More patients with ARM reported some degree of erectile dysfunction compared to those with HD. Additionally, some have required fertility treatments. Further investigation is warranted to ensure true low rates of sexual and fertility dysfunction in patients with HD.

Patient-reported urinary outcomes in adult males with congenital colorectal conditions.

PURPOSE: Long-term urinary outcomes for patients born with Hirschsprung disease (HD) and anorectal malformations (ARM) may impact their health and wellbeing into adulthood. This study describes self-reported long-term urinary outcomes in males with HD and ARM. METHODS: This was a prospective study of male patients in the Adult Colorectal Research Registry who completed surveys on urinary function between October 2019 and March 2022. Self-reported health and functional outcomes were summarized, and differences based on type of condition were compared. RESULTS: Sixty-seven patients completed the questionnaire (response rate: 59.1%), of which 17.9% (12) had HD and 82.1% (55) had an ARM. Rates of urinary incontinence and stress urinary incontinence were 16.4% (11) and 4.5% (3), respectively. On sub-analysis of patients with ARM, patients with sacral ratio (SR) of 0.4-0.69 reported higher UTI rates compared to those with SR ≥ 0.7 (57.9 vs 25.8%, p = 0.023). Renal failure rates were highest among patients with recto-bladder neck fistulas (66.0%, p = 0.012). CONCLUSION: Patients with HD and ARM report a variety of urological sequelae in adulthood. Outcomes appear to be more common in patients with ARM and may be impacted by both anatomy and sacral ratios. Transitional care to monitor and manage renal and urological function is imperative.

Diverse ancestry whole-genome sequencing association study identifies TBX5 and PTK7 as susceptibility genes for posterior urethral valves.

Posterior urethral valves (PUV) are the commonest cause of end-stage renal disease in children, but the genetic architecture of this rare disorder remains unknown. We performed a sequencing-based genome-wide association study (seqGWAS) in 132 unrelated male PUV cases and 23,727 controls of diverse ancestry, identifying statistically significant associations with common variants at 12q24.21 (p=7.8 × 10-12; OR 0.4) and rare variants at 6p21.1 (p=2.0 × 10-8; OR 7.2), that were replicated in an independent European cohort of 395 cases and 4151 controls. Fine mapping and functional genomic data mapped these loci to the transcription factor TBX5 and planar cell polarity gene PTK7, respectively, the encoded proteins of which were detected in the developing urinary tract of human embryos. We also observed enrichment of rare structural variation intersecting with candidate cis-regulatory elements, particularly inversions predicted to affect chromatin looping (p=3.1 × 10-5). These findings represent the first robust genetic associations of PUV, providing novel insights into the underlying biology of this poorly understood disorder and demonstrate how a diverse ancestry seqGWAS can be used for disease locus discovery in a rare disease.

Contractile and Structural Properties of Detrusor from Children with Neurogenic Lower Urinary Tract Dysfunction.

Neurogenic lower urinary tract (NLUT) dysfunction in paediatric patients can arise after congenital or acquired conditions that affect bladder innervation. With some patients, urinary tract dysfunction remains and is more difficult to treat without understanding the pathophysiology. We measured in vitro detrusor smooth muscle function of samples from such bladders and any association with altered Wnt-signalling pathways that contribute to both foetal development and connective tissue deposition. A comparator group was tissue from children with normally functioning bladders. Nerve-mediated and agonist-induced contractile responses and passive stiffness were measured. Histology measured smooth muscle and connective tissue proportions, and multiplex immunohistochemistry recorded expression of protein targets associated with Wnt-signalling pathways. Detrusor from the NLUT group had reduced contractility and greater stiffness, associated with increased connective tissue content. Immunohistochemistry showed no major changes to Wnt-signalling components except down-regulation of c-Myc, a multifunctional regulator of gene transcription. NLUT is a diverse term for several diagnoses that disrupt bladder innervation. While we cannot speculate about the reasons for these pathophysiological changes, their recognition should guide research to understand their ultimate causes and develop strategies to attenuate and even reverse them. The role of changes to the Wnt-signalling pathways was minor.