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Background Anorectal malformations (ARMs) are complex congenital anomalies. The corrective operation is demanding and schedulable. Based on complete national data, patterns of care have not been analyzed in Germany yet. Methods All cases with ARM were analyzed (1) at the time of birth and (2) during the hospital stay for the corrective operation, based on the national hospital discharge data (DRG statistics). Patient's comorbidities, treatment characteristics, hospital structures, and the outcome of corrective operations were analyzed with respect to the hospitals' caseload. Results From 2016 to 2021, 1,726 newborns with ARM were treated at the time of birth in 388 hospitals. Of these hospitals, 19% had neither a pediatric nor a pediatric surgical department. At least one additional congenital anomaly was present in 49% of cases and 7% of the newborns had a birthweight below 1,500 g. In all, 2,060 corrective operations for ARM were performed in 113 hospitals in the same time period. In 24.5% of cases, at least one major complication was documented. One-third of the operations were performed in 56 hospitals, one-third in 20 hospitals, and one-third in 10 hospitals with median annual case numbers of 2, 5, and 10, respectively. Hospitals with the highest caseload operated cloacal defects more often than hospitals with the lowest caseload (7 vs. 2%) and had more early complications than hospitals with the lowest caseload (30 vs. 21%). This difference was not statistically significant after risk adjustment. Conclusions Children with ARM are multimorbid. Early complications after corrective surgery are common. Considering the large number of hospitals with a very low caseload, centralization of care for the complex and elective corrective surgery for ARM remains a key issue for quality of care. [ABSTRACT FROM AUTHOR]

Background: Constipation and outlet obstruction may persist after successful pull-through in Hirschsprung Disease (HD). The radiographic assessment of the faecal load is widely used but exposes the child to radiation. This study aims to evaluate whether the transrectal diameter (TRD) assessed with ultrasound correlates with symptoms of faecal load and whether the TRD normalises when symptoms disappear. Method: Children with HD after pullthrough and functional constipation presenting to our colorectal clinic between 4/23 and 4/24 were assessed for symptoms of constipation, smearing and outlet obstruction, as well as healthy controls. Ultrasound measurement of the TRD was conducted. Bowel management was initiated according to our institutional pathway using Peristeen© irrigation after an orthograde disimpaction regime. Results: A total of 193 children underwent TRD assessment. Of 60 children with HD, 26 (43.3%) presented with obstructive symptoms, and 34 (56.7%) were asymptomatic. In asymptomatic patients with HD, the mean TRD of 2.26 cm (SD 0.61) was significantly (p < 0.001) lower than in HD with symptoms, with a mean TRD of 3.35 cm (SD 1.03). Individuals without colorectal pathology had a mean TRD of 2.04 cm (SD 0.37), and children with functional constipation and symptoms showed a mean TRD of 4.36 cm (SD 1.32). The mean TRD after symptom resolution was 2.37 cm. Conclusions: Children with HD without obstructive symptoms have a TRD < 3 cm, as do controls. The transrectal diameter allows the clinician to sonographically assess the faecal load in children with HD at the bedside without radiation. The TRD is useful for monitoring a bowel management program in children with HD. [ABSTRACT FROM AUTHOR]

Background: Total colonic aganglionosis, as a rare variant of Hirschsprung Disease, still poses challenges to surgeons in terms of diagnosis and management. The optimal preparation for pullthrough is crucial for reconstructive surgery. This study aims to explore our surgical pathway for children with total colonic aganglionosis (TCA) and to describe the prehabilitation necessary to prepare for successful reconstructive pullthrough surgery. Methods: A prospective review of children with TCA receiving an abdominal surgical intervention between 1/22 and 4/24. The cohort included children receiving mapping +/− primary ileoanal pullthrough. An analysis of preoperative, perioperative, and postoperative data, and a short-term follow-up were performed. Results: A total of 18 children with TCA and no prior pullthrough received an abdominal intervention during the 29-month study period, and 5/18 (27.8%) were female. The children had a median of 4 (range 2–7) prior external surgeries; all had a stoma; 6 (33%) children received parental nutrition; 12 children underwent a mapping of the ganglia distribution and bowel length at a median age of 11 months (range 3–54), and in 10 of them, we relocated the stoma. There was a mean involvement of 15 (5–93) cm small bowel aganglionosis, with the remaining mean ganglionic small bowel having a length of 178 cm (110–254). A total of 11 children underwent straight primary ileoanal pullthrough of the stoma site at a median age of 16.7 months (10–133). Conclusions: The timely diagnosis of TCA still challenges the care team, and most children have a rough journey involving several surgeries until their diagnosis is established. The ensure bowel function with an adequate working stoma is the key to enabling enteral nutrition and growth, which are the baseline requirements to undertake a successful pullthrough procedure and restore continuity. Careful perioperative bowel management and parents' active involvement supports children with Hirschsprung Disease achieving the best possible quality of life. [ABSTRACT FROM AUTHOR]

Purpose: To evaluate bowel management for children with colorectal pathology by measuring transverse rectal diameter (TRD) and assessing fecal load with transabdominal rectal ultrasound (TRU). Methods: Prospective case–control study of children receiving bowel management (BM) between 04/2023 and 04/2024 was done. There was inclusion of patients with Hirschsprung disease (HD), anorectal malformation (ARM) and functional constipation (FC). Patients with other congenital or neurological conditions were excluded. Control group consisted of inpatients and outpatients without abdominal complaints. FC was diagnosed according to ROM-IV-criteria. For HD and ARM, we followed a list of symptoms. To assess fecal load, we visualized the TRD using the Klijn (Klijn et al. in J Urol 172:1986–1988, 2004) method. The bladder was moderately full. The fecal load was assessed retrograde from the rectum. Follow-up was at 1/3/6 months. Secondary data were collected from medical records. Sample size calculated a priori and follow-up group with new gathered data. Results: p value for TRD in all groups significant with p < 0.05 and in grouped follow-up. Conclusion: Ultrasound is a useful tool for assessing fecal load and helps diagnose constipation and monitor BM. Irrespective of colorectal pathology, a cut-off of 3 cm seems to discriminate between children without constipation/overload symptoms and asymptomatic patients. We present a radiation-free method for monitoring bowel management. [ABSTRACT FROM AUTHOR]

The acronym VATER/VACTERL refers to the rare nonrandom association of the following component features (CFs): vertebral defects (V), anorectal malformations (ARM) (A), cardiac anomalies (C), tracheoesophageal fistula with or without esophageal atresia (TE), renal malformations (R), and limb anomalies (L). For the clinical diagnosis, the presence of at least three CFs is required, individuals presenting with only two CFs have been categorized as VATER/VACTERL‐like. The majority of VATER/VACTERL individuals displays a renal phenotype. Hitherto, variants in FGF8, FOXF1, HOXD13, LPP, TRAP1, PTEN, and ZIC3 have been associated with the VATER/VACTERL association; however, large‐scale re‐sequencing could only confirm TRAP1 and ZIC3 as VATER/VACTERL disease genes, both associated with a renal phenotype. In this study, we performed exome sequencing in 21 individuals and their families with a renal VATER/VACTERL or VATER/VACTERL‐like phenotype to identify potentially novel genetic causes. Exome analysis identified biallelic and X‐chromosomal hemizygous potentially pathogenic variants in six individuals (29%) in B9D1, FREM1, ZNF157, SP8, ACOT9, and TTLL11, respectively. The online tool GeneMatcher revealed another individual with a variant in ZNF157. Our study suggests six biallelic and X‐chromosomal hemizygous VATER/VACTERL disease genes implicating all six genes in the expression of human renal malformations. [ABSTRACT FROM AUTHOR]

Abstract Background The use of assisted reproductive techniques (ART) for treatment of infertility is increasing rapidly worldwide. However, various health effects have been reported including a higher risk of congenital malformations. Therefore, we assessed the risk of anorectal malformations (ARM) after in-vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI). Methods Data of the German Network for Congenital Uro-REctal malformations (CURE-Net) were compared to nationwide data of the German IVF register and the Federal Statistical Office (DESTATIS). Odds ratios (95% confidence intervals) were determined to quantify associations using multivariable logistic regression accounting for potential confounding or interaction by plurality of births. Results In total, 295 ARM patients born between 1997 and 2011 in Germany, who were recruited through participating pediatric surgeries from all over Germany and the German self-help organisation SoMA, were included. Controls were all German live-births (n = 10,069,986) born between 1997 and 2010. Overall, 30 cases (10%) and 129,982 controls (1%) were born after IVF or ICSI, which translates to an odds ratio (95% confidence interval) of 8.7 (5.9–12.6) between ART and ARM in bivariate analyses. Separate analyses showed a significantly increased risk for ARM after IVF (OR, 10.9; 95% CI, 6.2–19.0; P Conclusions There is a strongly increased risk for ARM among children born after ART. Elevations of risk were seen after both IVF and ICSI. Further, separate analyses of patients with isolated ARM, ARM with associated anomalies and those with a VATER/VACTERL association showed increased risks in each group. An increased risk of ARM was also seen among both singletons and multiple births.

Background: Anorectal malformations (ARM) have a prevalence of around 1 in 2500 live births. In around 50% of patients, the malformation is isolated, while in the remainder it arises within the context of complex genetic abnormalities or a defined genetic syndrome. Recent studies have implicated rare copy number variations (CNVs) in both isolated and nonisolated ARM, and identified plausible candidate genes. Methods: In the present study, array-based molecular karyotyping was performed to identify causative CNVs in 32 sporadic ARM patients with comorbid abnormalities of the central nervous system (CNS). This phenotype was selected to enrich for rare CNVs, since previous research has implicated rare CNVs in both CNS abnormalities and ARM. Results: In five patients, a probable disease-causing CNV was identified (del6q14.3q16.3, del14q32.2, del17q12q21.2, and two patients with del22q11.21). In three of these patients, the CNVs were de novo. For the remaining two patients, no parental DNA was available. Deletions at 22q11.21 and 6q14.3 have been associated with both CNS abnormalities and ARM. In contrast, deletions at 14q32.2 have only been described in patients with CNS abnormalities, and the del17q12q21.2 is a novel CNV. Expression studies in mice suggest that NEUROD2 and RARA, which reside within the newly identified del17q12q21.2 region, are candidate genes for the formation of microcephaly and ARM. Conclusion: The present data suggest that CNVs are a frequent cause of the ARM with CNS abnormalities phenotype, and that array-analysis is indicated in such patients. Birth Defects Research (Part A) 103:235-242, 2015. © 2014 Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR]

Background The acronym VATER/VACTERL association describes the combination of at least three of the following cardinal features: vertebral defects, anorectal malformations, cardiac defects, tracheoesophageal fistula with or without esophageal atresia, renal malformations, and limb defects. Although fibroblast growth factor-8 ( FGF8) mutations have mainly found in patients with Kallmann syndrome, mice with a hypomorphic Fgf8 allele or complete gene invalidation display, aside from gonadotropin-releasing hormone deficiency, parts or even the entire spectrum of human VATER/VACTERL association. Methods We performed FGF8 gene analysis in 49 patients with VATER/VACTERL association and 27 patients presenting with a VATER/VACTERL-like phenotype (two cardinal features). Results We identified two heterozygous FGF8 mutations in patients displaying either VATER/VACTERL association (p.Gly29_Arg34dup) or a VATER/VACTERL-like phenotype (p.Pro26Leu) without limb anomalies. Whereas the duplication mutation has not been reported before, p.Pro26Leu was once observed in a Kallmann syndrome patient. Both our patients had additional bilateral cryptorchidism, a key phenotypic feature in males with FGF8 associated Kallmann syndrome. Each mutation was paternally inherited. Besides delayed puberty in both and additional unilateral cryptorchidism in one of the fathers, they were otherwise healthy. Serum hormone levels downstream the gonadotropin-releasing hormone in both patients and their fathers were within normal range. Conclusion Our results suggest FGF8 mutations to contribute to the formation of the VATER/VACTERL association. Further studies are needed to support this observation. Birth Defects Research (Part A) 100:750-759, 2014. © 2014 Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR]

Unlabelled: Fecal incontinence is a serious problem that may lead to social segregation and psychological problems. Patients with anorectal malformations frequently suffer fecal incontinence even with an excellent anatomic repair. In these patients an effective management program with enemas can improve their quality of life. We want to present our experience with bowel management and anorectal irrigation as treatment for stool incontinence., Material and Methods: Patients who presented with soiling regardless of the type of anomaly were included in the study. The diagnostic program comprised a careful clinical history, physical examination, exact classification of the malformation and stool protocol. All patients suffering from true fecal incontinence were included in a bowel management program. These patients received oral polyethylenglykol to evacuate stool impaction. Than anorectal irrigation was initiated and repeated every 24 or 48 hours. Patients were controlled for soiling, time needed for irrigation and time interval between irrigations 6 and 12 months after start oftherapy., Results: 40 patients aged 4 to 54 with a mean age of 15,95 years were evaluated. 12 months after start of therapy 32 patients were free of symptoms of soiling. 6 patients were soiling occasionally once or twice per week. 2 patients did not follow the therapeutic regime and therefore did not show an improved condition concerning soiling in the long run. The average time needed for irrigation was 45 minutes, irrigations where done every 24 hours in 12 patients. 25 patients irrigated twice every 48 and 72 hours to achieve a constant seven day rhythm. One patient irrigated every five days., Discussion: Patients born with anorectal malformation and suffering from stool incontinece can be kept clean of stool if they are subjected to an adequate treatment.

Psychodynamic findings based on the Operationalized Psychodynamic Diagnostics in Childhood and Adolescence (OPD-CA) in patients with Anorectal Malformations (ARM) in comparison to psychiatric patients were presented focussing the psychic structure. Patients with ARM had significant better psychic structure especially with regard to coping with conflicts and communication of affects. Furthermore typical findings were generated: Patients with ARM had better treatment conditions and more positive relationships. Still they had fewer hypotheses about their disease and greater living burden. Structural strengthes facilitate acceptance and integration of the disease. Nonetheless more attention should be paid to child-oriented psychoeducation for development of age-appropriate hypotheses about the disease. Facing living burden, psychological-psychiatric support should be offered to patients with ARM., (© Georg Thieme Verlag KG Stuttgart · New York.)

Anorectal malformations (ARM) are not externally visible and have an uncertain medical course. Only about half of the patients with ARM have satisfactory bowel functions. Studies of ARM have reported reduced quality of life and psychosocial problems in up to 73% of the patients. The aim of the current study was to document the psychiatric comorbidity and the psychosocial need of patients with ARM in a multidimensional diagnostic for the first time. The screening sample (N = 30) included 23 male and 7 female patients aged 4-17 years. The introduced Comprehensive Grading System with a sophisticated perspective of continence and associated problems showed 23 patients suffering severe burden. 70 % of the families confirmed increased psychosocial need. In the diagnostic one third of the patients had psychiatric diagnoses, one third had mild problems and one third had no difficulties. Therefore, a group program should be offered to all patients. To the patients with severe forms of ARM or with increased psychosocial need, the multidimensional diagnostic program including advices and recommendations should be offered. Psychosocial assistance is important to reinforce acceptance and integration of coping with the illness in one's life. Early intervention can prevent psychiatric disorders later in life.

Injuries are responsible for considerable morbidity and much long-term or permanent disability. They are also the leading cause of death for children aged 0 to 5. In high income countries around the world 20000 children die each year from injuries. A recent UNICEF report has compiled data for 2001 on the leading cause of death for Europe. The burden of disease measure has identified injury as causative in 40% of years lost from premature death in children. Drowning and near drowning is the number two killer for children aged 0 to 5. In 30% of all cases cardio-pulmonary resuscitation and intensive care are needed. 11.5% of all drowning accidents are fatal, 9.5% of nearly drowned children show extensive neurologic deficits. Though the absolute number of deaths from injury in children has decreased during the last 20 years (in 1980: 18.8 dead children per 100000; in 2004: 3.0 dead children in 100000), still approximately 400 children die from injuries in Germany every year. The public health approach to injury involves not only deaths but also the burden of disease and loss of health from disability. Severe traumatologic pediatric emergencies are thermal injury, drowning and blunt abdominal trauma.