[The German research network CURE-Net : A benefit for patients with rare diseases]. / Das deutsche Forschungsnetzwerk CURE-Net : Ein Gewinn für Patienten mit seltenen Erkrankungen.

With the help of the media, there is growing public awareness for the problems associated with rare diseases and their impact on the lives of those affected and their families. Bladder exstrophy-epispadias complex (BEEC) is also a part of the group of rare diseases within the urological field. The German network CURE-Net was founded in 2009 to systematically collect data regarding the epidemiological and molecular causes, and clinical and psychosocial effects of congenital urorectal malformations. With the help of self-help groups a national registry could be established for systematic data retrieval. This research can help to improve existing medical care and follow-up for affected individuals with BEEC.

Psychosocial screening at paediatric BEEC clinics: a pilot evaluation study.

INTRODUCTION: Bladder Exstrophy and Epispadias Complex (BEEC) is associated with an increased risk of impaired mental health, quality of life, and psychosocial functioning. Therefore, screening patients to help identify and evaluate potential psychosocial difficulty is arguably an important consideration for BEEC Services. OBJECTIVE: To screen paediatric BEEC patients for a range of general psychosocial difficulties in a multi-disciplinary out-patient clinic setting. STUDY DESIGN: This cross-sectional evaluation was conducted between April 2012 and July 2013. Families attending BEEC multi-disciplinary out-patient clinics were asked to complete a range of standardised psychosocial questionnaires, including the Paediatric Quality of Life Inventory (PedsQL 4.0 Generic Core and Family Impact Module), the Strengths and Difficulties Questionnaire (SDQ), the Paediatric Index of Emotional Distress (PI-ED), and the Hospital Anxiety and Depression Scale (HADS). 108 children attended clinic of which 80 (74.1%) patients and their parents/carers completed some or all of the questionnaires. The mean patient age was 8.41 years (SD = 4.46, range = 1-18 years). There were more boys (N = 50, 62.5%) and the majority had a diagnosis of classic bladder exstrophy (N = 51, 63.8%), followed by primary epispadias (N = 22, 27.5%) and cloacal exstrophy (N = 7, 8.7%). RESULTS: Mean total scores fell within the average/normal range on all questionnaires used (See table below). However, variation around these means was high. Age, gender and diagnosis were found to significantly influence certain questionnaire responses with older-age groups, males, and those with classic bladder exstrophy particularly at risk across some domains. The children/adolescents self-reported better health related quality of life (HRQoL) scores than published results for a range of paediatric chronic health conditions. Differences between parent and child responses on both the PedsQL and SDQ favoured a more positive response on the child self-report questionnaire but were not statistically significant. DISCUSSION: Mean scores on the measures used suggest a relatively optimistic picture of general psychosocial well-being, especially for HRQoL, in the BEEC population studied. Positive HRQoL outcomes have recently been reported for BEEC paediatric populations. Our results reflect this trend with better mean HRQoL scores than paediatric patients with a range of other chronic health conditions. However, this optimism is cautious given the limitations of this evaluation study and the high variation around the means. Limitations included the small sample size (especially for patients with cloacal exstrophy), the lack of a control group, the limited sensitivity of generic questionnaires in respect of BEEC-specific issues, and the low mean age of patients in the study. Future screening programmes may wish to consider measuring BEEC-specific variables (e.g. satisfaction with genital appearance/function); collecting information on medical aspects, such as continence, pubertal stage and frequency/timing of medical intervention; and asking both parents/carers (where possible) to complete the questionnaires. CONCLUSIONS: Screening questionnaire responses were used in conjunction with clinical psychology consultations to evaluate a range of psychosocial aspects in BEEC paediatric patients. Whilst mean scores on the measures used suggest a relatively optimistic picture, certain individual scores did fall within the clinical ranges, highlighting the potential need for further assessment. Developmentally tailored consultations with a clinical psychologist can provide detailed information around questionnaire responses and further assess BEEC specific aspects.

The exstrophy-epispadias complex.

Patients with the exstrophy-epispadias complex are one of the most challenging groups encountered by pediatric urologists. They generally require surgery involving several reconstruction techniques, usually performed after the first week of life. Common problems in subsequent years include issues related to continence, sexual function, and the appearance of the lower abdomen and genitals. This article reviews major publications over the last few years related to managing patients with this rare, complex, congenital genitourinary anomaly.

[Genetic and molecular biological aspects of the bladder exstrophy-epispadias complex (BEEC)]. / Genetische und molekularbiologische Aspekte des Blasenekstrophie-Epispadie-Komplexes (BEEK).

The bladder exstrophy and epispadias complex (BEEC) is an anterior midline defect with variable expression involving the infraumbilical abdominal wall including the pelvis, urinary tract, and external genitalia. The incidence varies with regard to ethnical background, sex, and phenotypic expression, and an incidence of 1:20,000 to 1:80,000 has been observed in the middle European population. No gene defect has been attributed to BEEC thus far and chromosomal aberrations or genetic syndromes associated with BEEC have only rarely been reported. According to epidemiological data, a complex genetic as well as a multifactorial mode of inheritance could underlie BEEC. However, no single teratogenic agent or environmental factor has been identified, which could play a dominant role in the expression of the BEEC.A risk of recurrence of 0.5-3% has been described in families with one affected subject. These values correspond to an increased recurrence risk estimated to be as high as 200- to 800-fold when compared to the common population. Due to the paucity of affected sib pairs and suitable multiplex families, conventional linkage analysis to identify candidate genes causally related with BEEC appears to be unfeasible. Large association studies and consecutive linkage disequilibrium mapping should therefore lead to the identification of candidate genes. Also new methods including matrix-based comparative genomic hybridization (CGH) are promising and have successfully been used in the past (e.g., CHARGE association). Moreover, the low incidence of the BEEC requires close cooperation between clinicians in the operative and nonoperative specialties as well as geneticists for successful gene search.

Endoscopic treatment of urinary incontinence in children with primary epispadias.

OBJECTIVE: To evaluate the efficacy of the endoscopic insertion of polydimethylsiloxane particles (Macroplastique, Uroplasty Inc) (MPQ) into the posterior urethral region of boys with urinary incontinence and primary epispadias. PATIENTS AND METHODS: Between 1991 and 1995, 12 boys aged 3-7 years (mean 4.8) received an endoscopic submucosal injection with MPQ into the posterior urethra to correct urinary incontinence; the 12 boys were wet day and night. All patients had undergone a modified Cantwell epispadias repair before injection. The procedure was performed 24 times with a total volume of 83 mL of material injected into 59 sites in the posterior urethra (mean volume per injection 1.4 mL). The mean follow-up after injection was 10.8 months (range 3-22). RESULTS: Three patients became completely dry, the degree of incontinence was improved in six and there was no change in three. CONCLUSION: The preliminary results of this relatively non-invasive treatment are encouraging.

[Use of hypnosis in multimodal treatment of children with urologic diseases]. / Primenenie gipnoza v kompleksnom lechenii detei s urologicheskimi zabolevaniiami.

Experience in the use of hypnosis in complex treatment of 75 children with urological diseases at an in-patient hospital is generalized. In patients with total epispadias, exstrophy and trauma of the urinary bladder postoperative hypnotherapy helped in training and restoration of micturition as a result of which a second operative intervention was not needed. After removal of a drain which had been inserted for a long time for urethral stricture suggestions made during hypnosis allayed fear and pain during micturition and thus significantly contributed to the restoration of this act. In children with neurogenous urinary bladder and valve of the posterior urethra hypnotherapy was successfully applied after dissection or cauterization of the valve to remove the syndrome of day and night urinary incontinence. Thus, the function of micturition may be restored most fully only by an effect exerted on all links of the pathological process.

Female genito-urethroplasty and submucosal periurethral collagen injection as adjunctive procedures for continence in the exstrophy-epispadias complex. Preliminary results.

Continence is the main goal in the treatment of patients with bladder exstrophy and prognosis is necessarily long-term. Over an 8-year period, 44 patients presented with bladder exstrophy and/or incontinent epispadias. Twenty-five bladder closures (7 secondary), 23 male urethroplasties, 19 bladder neck (BN) reconstructions and 6 bladder augmentations were performed in these patients. In 18 children 2 additional procedures were employed in the last 3 years: female genito-urethroplasty (15) and submucosal periurethral collagen injection (11). Eight children underwent both procedures. Genito-urethroplasty and collagen injection were performed before BN reconstruction in 6 and 5 cases respectively, in order to increase bladder outlet resistance. The submucosal injection was performed at 3, 9 and 12 o'clock in the BN or sphincteric urethra, using 0.75 to 2.5 ml of cross-linked bovine collagen. Continence in the children who underwent the complete staged reconstruction was good in 58%, fair in 32% and poor in 11%. Following female genito-urethroplasty and periurethral collagen injection, bladder capacities increased by 25%. These complementary procedures are effective in increasing outlet resistance and bladder capacity in patients with exstrophy and/or epispadias; they may improve continence and lessen the need for further bladder augmentation.