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Journal of Indian Association of... 2023Anorectal malformations (ARMs) are managed classically in three stages - colostomy at birth, anorectal pull-through after 2-3 months, and stoma closure. Single-stage... (Review)
Review
Anorectal malformations (ARMs) are managed classically in three stages - colostomy at birth, anorectal pull-through after 2-3 months, and stoma closure. Single-stage pull-through has been contemplated in neonatal age aimed to reduce the number of procedures, better long-term continence, the better psycho-social status of the child, and reduced cost of treatment, especially in resource-strained countries. We conducted a systematic review comparing neonatal single-stage pull-through with stage pull-through and did a meta-analysis for the outcome and complications. Preferred Reporting Items for Systematic Reviews and Meta-Analysis guidelines were followed. PubMed and Scopus databases were searched and RevMan 5.4.1 was used for the meta-analysis. Fourteen comparative studies including one randomized controlled trial were included in the systematic review for meta-analysis. The meta-analysis included 1845 patients including 866 neonates undergoing single-stage pull-through. There was no statistically significant difference for the occurrence of surgical site infection (odds ratio [OR] 0.82, 95% confidence interval [CI]: 0.24-2.83), urinary tract injury (OR 1.82, 95% CI: 0.85-3.89), rectal prolapse (OR 0.98, 95% CI: 0.21-5.04), anal stenosis/stricture, voluntary bowel movements (OR 0.97, 95% CI: 0.25-3.73), constipation (OR 1.01, 95% CI: 0.61-1.67), soiling (OR 0.89, 95% CI: 0.52-1.51), mortality (OR 1.19, 95% CI: 0.04-39.74), or other complications. However, continence was seen to be better among patients undergoing neonatal pull-through (OR 1.63, 95% CI: 1.12-2.38). Thus, we can recommend single-stage pull-through for managing patients with ARMs in the neonatal age.
PubMed: 37842219
DOI: 10.4103/jiaps.jiaps_28_23 -
Journal of Pediatric Surgery Mar 2024This study describes the presentation and initial management of anorectal malformation (ARM); evaluating the frequency, causes and consequences of late diagnosis.
BACKGROUND
This study describes the presentation and initial management of anorectal malformation (ARM); evaluating the frequency, causes and consequences of late diagnosis.
METHODS
A prospective, population cohort study was undertaken for newly diagnosed ARMs in the UK and Ireland from 01/10/2015 and 30/09/2016. Follow-up was completed at one year. Data are presented as n (%), appropriate statistical methods used. Factors associated with late diagnosis; defined as: detection of ARM either following discharge or more than 72 h after birth were assessed with univariable logistic regression.
RESULTS
Twenty six centres reported on 174 cases, 158 of which were classified according to the type of malformation and 154 had completed surgical data. Overall, perineal fistula was the most commonly detected anomaly 43/158 (27%); of the 41 of these children undergoing surgery, 15 (37%) had a stoma formed. 21/154 (14%, CI{9-20}) patients undergoing surgery experienced post-operative complications. Thirty-nine (22%) were diagnosed late and 12 (7%) were detected >30 days after birth. Factors associated with late diagnosis included female sex (OR 2.06; 1.0-4.26), having a visible perineal opening (OR 2.63; 1.21-5.67) and anomalies leading to visible meconium on the perineum (OR 18.74; 2.47-141.73). 56/174 (32%) had a diagnosis of VACTERL association (vertebral, anorectal, cardiac, tracheal, oesophageal, renal and limb); however, not all infants were investigated for commonly associated anomalies. 51/140 (36%) had a cardiac anomaly detected on echocardiogram.
CONCLUSION
There is room for improvement within the care for infants born with ARM in the UK and Ireland. Upskilling those performing neonatal examination to allow timely diagnosis, instruction of universal screening for associated anomalies and further analysis of the factors leading to clinically unnecessary stoma formation are warranted.
LEVEL OF EVIDENCE
II (Prospective Cohort Study <80% follow-up).
PubMed: 38580547
DOI: 10.1016/j.jpedsurg.2024.03.009 -
Journal of Pediatric Surgery Jun 2024Despite surgical advances for complex congenital colorectal conditions, such as anorectal malformation (ARM) and Hirschsprung disease (HD), many adolescents require... (Review)
Review
BACKGROUND
Despite surgical advances for complex congenital colorectal conditions, such as anorectal malformation (ARM) and Hirschsprung disease (HD), many adolescents require transfer from specialist pediatric to adult providers for ongoing care.
METHODOLOGY
A systematic review of PubMed, MEDLINE and Embase was conducted to identify what is known about the transitional care of patients with ARM and HD (PROSPERO # CRD42022281558). The Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) framework guided our reporting of studies that focused on the transition care of 10-30-year-olds with ARM and HD.
RESULTS
Eight studies were identified that included patient and parent (n = 188), and/or clinician perspectives (n = 334). Patients and clinicians agreed that transitional care should commence early in adolescence to support transfer to adult care when a suitable level of maturation is reached. There was little evidence from patients that transfer happened in a timely or coordinated manner. Patients felt that clinicians did not always understand the significance of transfer to adult services. No models of transition care were identified. Surgeons ranked ARM and HD as the most common conditions to experience delayed transfer to adult care. Beyond pediatric surgeons, patients also highlighted the importance of general practitioners, transitional care coordinators and peer support groups for successful transition.
CONCLUSIONS
There is little research focused on transitional care for patients with ARM and HD. Given evidence of delayed transfer and poor experiences, the development of models of transitional care appears essential.
Topics: Humans; Transition to Adult Care; Adolescent; Anorectal Malformations; Adult; Hirschsprung Disease; Child; Young Adult
PubMed: 38493027
DOI: 10.1016/j.jpedsurg.2024.02.012 -
ANZ Journal of Surgery Dec 2023
Topics: Humans; Anorectal Malformations; Delayed Diagnosis; Rectum; Abnormalities, Multiple; Anal Canal
PubMed: 37727037
DOI: 10.1111/ans.18691 -
Journal of Pediatric Nursing May 2024Anorectal malformation (ARM) or Hirschsprung's disease (HD) in children impact on parents' burden of care and quality of life (QoL). The aim of this study was to...
BACKGROUND
Anorectal malformation (ARM) or Hirschsprung's disease (HD) in children impact on parents' burden of care and quality of life (QoL). The aim of this study was to investigate the relationship between caregiver burden and QoL in parents of children with ARM or HD.
DESIGN AND METHODS
This cross-sectional study was conducted with 51 parents who completed the Zarit Burden Inventory (ZBI) and World Health Organization Quality of Life Scale-Short Form Turkish Version (WHOQOL-BREF-TR).
RESULTS
The mean (±SD) ZBI score was 33.6 (±12.7), and 47.1% of parents (n = 24) perceived their caregiver burden as mild, 31.4% (n = 16) as moderate, and 3.9% (n = 2) as severe. According to the multivariate linear regression, associated anomalies (β = 5.912), family income (β = -6.007), stoma care (β = 8.287), and diagnosis were identified to be significant determinants of caregiver burden. A negative, moderate, and significant relationship was identified between the ZBI scores and the physical domain (r = -0.417, p < .01), psychological domain (r = -0.421, p < .01), social relations domain (r = -0.398, p < .01), and environmental domain (r = -0.495, p < .01) scores of the WHOQOL-BREF-TR.
CONCLUSIONS
The mothers perceived their caregiver burden as mild. However, a significant number of parents suffer from moderate to heavy caregiver burden. An increase in the caregiver burden of parents reduces their quality of life.
PRACTICE IMPLICATIONS
Heightened awareness of the potential for caregiver burden and its association with quality of life among parents of children with ARM and HD may contribute to improved.
PubMed: 38729895
DOI: 10.1016/j.pedn.2024.05.005 -
Children (Basel, Switzerland) May 2024Pediatric colorectal specialists care for patients with a variety of defecation disorders. Anorectal (AR) manometry testing is a valuable tool in the diagnosis and...
BACKGROUND
Pediatric colorectal specialists care for patients with a variety of defecation disorders. Anorectal (AR) manometry testing is a valuable tool in the diagnosis and management of these children. This paper provides a summary of AR manometry techniques and applications as well as a review of AR manometry findings in pediatric patients with severe defecation disorders referred to a pediatric colorectal center. This is the first study describing multi-year experience using a portable AR manometry device in pediatric patients.
METHODS
An electronic medical record review was performed (1/2018 to 12/2023) of pediatric patients with defecation disorders who had AR manometry testing. Demographics, diagnostic findings, and outcomes are described.
KEY RESULTS
A total of 297 unique patients (56.9% male, = 169) had AR manometry testing. Of these, 72% (n = 188) had dyssynergic defecation patterns, of which 67.6% (n = 127) had fecal soiling prior to treatment. Pelvic rehabilitation (PR) was administered to 35.4% (n = 105) of all patients. A total of 79.5% (n = 58) of the 73 patients that had fecal soiling at initial presentation and completed PR with physical therapy and a bowel management program were continent after therapy. AR manometry was well tolerated, with no major complications.
CONCLUSIONS
AR manometry is a simple test that can help guide the management of pediatric colorectal surgical patients with defecation disorders. As a secondary finding, PR is a useful treatment for patients with dyssynergic stooling.
PubMed: 38929233
DOI: 10.3390/children11060654 -
Pediatric Surgery International Jul 2023To assess the quality of life and disease-specific functioning of adults with anorectal malformations (ARM) or Hirschsprung disease (HD) compared to healthy reference...
PURPOSE
To assess the quality of life and disease-specific functioning of adults with anorectal malformations (ARM) or Hirschsprung disease (HD) compared to healthy reference scores.
METHODS
Patients with the diagnosis of ARM or HD from the Adult Colorectal Research Registry completed the Short Form 36 Health Survey (SF-36), the Gastrointestinal Quality of Life Index (GIQoLI), and the Bowel Function Score (BFS) between October 2019 and August 2022. One-sample Wilcoxon test compared the results to reported healthy references with a significance level of < 0.05.
RESULTS
The response rate was 67%. All three surveys were completed by 133 adults with a slight preponderance of males (51%). Median age was 31 years, 117 were born with ARM and 16 with HD. All subgroups had significantly lower BFS than healthy references. ARM patients scored significantly lower than the healthy reference population when assessed for GIQoL. All showed significant impairment with the mental component summary (MCS) of SF-36. Patients with a successful bowel management had significantly higher scores on all three questionnaires than those with fecal accidents.
CONCLUSION
Our results emphasize the importance of a successful bowel management and its impact on the quality of life and bowel function. Long-term follow-up is recommended with attention to mental health.
Topics: Male; Humans; Adult; Anorectal Malformations; Quality of Life; Defecation; Hirschsprung Disease; Surveys and Questionnaires
PubMed: 37464109
DOI: 10.1007/s00383-023-05516-9 -
World Journal of Urology Nov 2023Patients with neurogenic lower urinary tract dysfunction (nLUTD) can be at risk of preventable damage to the upper urinary tract (UUT), a risk that varies with the... (Review)
Review
PURPOSE
Patients with neurogenic lower urinary tract dysfunction (nLUTD) can be at risk of preventable damage to the upper urinary tract (UUT), a risk that varies with the underlying diagnosis. Existing literature fails to document precisely which domains of UUT must be followed. This review focusses on surveillance of UUT with special emphasis on high-risk nLUTD.
METHODS
Narrative review of available evidence and current global guidelines to identify patients of nLUTD at higher risk of UUT damage and to define each domain that needs to be followed.
RESULTS
Patients with open spina bifida, spinal cord injury, and anorectal malformation, as well as those with unsafe features on clinical evaluation or urodynamics should be considered at high risk. Structured program should include evaluation of (1) glomerular filtration rate (GFR) which can be estimated ± measured, (2) renal growth (in pre-pubertal children) by ultrasonography, (3) renal scarring by baseline nuclear renogram, (4) hydronephrosis and stones by ultrasonography, (5) vesicoureteral reflux by baseline video-urodynamics, (6) non-GFR measures of renal function (somatic growth, hypertension, proteinuria, anemia and metabolic acidemia). Serum creatinine-based estimations of GFR are more likely to be confounded in select patients with high-risk nLUTD than cystatin-based estimations and measured-GFR. Urological guidelines do not always describe details of UUT surveillance and appear to lack cognizance of nephrology guidelines for evaluation of kidneys.
CONCLUSION
A structured surveillance protocol that includes clear documentation of each domain of the UUT is important in ensuring optimum care for patients with high-risk nLUTD.
Topics: Child; Humans; Urinary Bladder, Neurogenic; Follow-Up Studies; Urinary Bladder; Urinary Tract; Kidney; Urodynamics
PubMed: 37702753
DOI: 10.1007/s00345-023-04602-w -
BMC Medical Imaging Sep 2023Accurate preoperative fistula diagnostics in male anorectal malformations (ARM) after colostomy are of great significance. We reviewed our institutional experiences and... (Review)
Review
BACKGROUND
Accurate preoperative fistula diagnostics in male anorectal malformations (ARM) after colostomy are of great significance. We reviewed our institutional experiences and explored methods for improving the preoperative diagnostic accuracy of fistulas in males with ARMs after colostomy.
METHODS
A retrospective analysis was performed on males with ARMs after colostomy admitted to our hospital from January 2015 to June 2022. All patients underwent magnetic resonance imaging (MRI) and high-pressure colostogram (HPC) before anorectal reconstruction. Patients with no fistula as diagnosed by both modalities underwent a voiding cystourethrogram (VCUG). General information, imaging results and surgical results were recorded.
RESULTS
Sixty-nine males with ARMs after colostomy were included. Age at the time of examination was 52 ~ 213 days, and the median age was 89 days. The Krickenbeck classification according to surgical results included rectovesical fistula (n = 19), rectoprostatic fistula (n = 24), rectobulbar fistula (n = 19) and no fistula (n = 7). There was no significant difference in the diagnostic accuracy between MRI and HPC for different types of ARMs. For determining the location of the fistula, compared to surgery, HPC (76.8%, 53/69) performed significantly better than MRI (60.9%, 42/69) (p = 0.043). Sixteen patients diagnosed as having no fistula by MRI or HPC underwent a VCUG, and in 14 patients, the results were comfirmed. However, there were 2 cases of rectoprostatic fistula that were not correctly diagnosed.
CONCLUSION
High-pressure colostogram has greater accuracy than MRI in the diagnosis of fistula type in males with ARMs after colostomy. For patients diagnosed with no fistula by both methods, VCUG reduces the risk of false-negative exclusion, and rectoprostatic fistula should be considered during the operation.
Topics: Humans; Male; Infant; Anorectal Malformations; Retrospective Studies; Colostomy; Rectal Fistula; Magnetic Resonance Imaging
PubMed: 37749545
DOI: 10.1186/s12880-023-01105-3 -
European Journal of Pediatrics Feb 2024Anorectal malformations (ARMs) of the rectoperineal and rectovestibular fistula type (RPF/RVF) generally have a good prognosis but may be accompanied by bowel...
Anorectal malformations (ARMs) of the rectoperineal and rectovestibular fistula type (RPF/RVF) generally have a good prognosis but may be accompanied by bowel dysfunction, especially constipation. Bowel dysfunction in preschoolers may persist into adolescence and adulthood, exerting a negative effect on their quality of life. This study was designed to evaluate bowel function and identify the features of bowel dysfunction in preschoolers with RPF/RVF across type and sex differences. A total of 159 preschoolers with RPF/RVF (male RPF group, n = 95; female RPF group, n = 26; RVF, n = 38) and 128 normal control preschoolers (control group, n = 128; female control group, n = 35), according to the bowel function score (BFS) obtained through a questionnaire survey, the BFS items in the questionnaire, and the clinical characteristics of patients were compared among groups. The rates of bowel dysfunction (BFS < 17) were 27.2% and 50.0% in the RPF and RVF groups, respectively. Normal rates of BFS items, namely, ability to hold back defecation, feels/reports of the urge to defecate, frequency of defecation, and constipation, in the RPF and RVF groups were significantly lower than those in the control and female control groups (all p < 0.05). After subgroup analysis among the male RPF, female RPF, and RVF groups, higher rates of normal bowel function and ability to hold back defecation were found in the male RPF group than in the female RPF and RVF groups (p < 0.05). Normal rates of feels/reports of the urge to defecate were higher in the male and female RPF groups than in the RVF group (all p < 0.05). The rate of never soiling in the male RPF group was significantly higher than that in the RVF group (p < 0.05). Conclusions: In patients with RPF/RVF, bowel dysfunction is still prevalent, characterized by inadequate ability to hold back defecation, inability to feel/report the urge to defecate, soil, less frequent defecation, and constipation. However, male RPF patients had better overall bowel function than female RPF or RVF patients, including more adequate ability to hold back defecation and feels/reports of the urge to defecate and slighter soiling, which may be linked to early age at surgery, low occurrences of low sacral ratio, and tethered cord in male RPF. Trial registration: This study was retrospectively registered in ClinicalTrials.gov on 09/01/2023 (NCT05716230). What is Known: • Rectoperineal and rectovestibular fistula (RPF/RVF) of the anorectal malformation (ARM) type has a good prognosis but may cause bowel dysfunction, especially constipation. • Bowel dysfunction at preschool age may lead to social and psychological disorders that undermine the quality of life in adolescence and adulthood. What is New: • Bowel function in preschoolers with RPF/RVF was deeply evaluated in a relatively large number of patients and normal control children. • Features of bowel dysfunction in RPF/RVF preschoolers across type and gender differences were identified in this study.
Topics: Child, Preschool; Female; Humans; Male; Anal Canal; Anorectal Malformations; Constipation; Defecation; Fistula; Quality of Life; Rectum
PubMed: 37935997
DOI: 10.1007/s00431-023-05306-4