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Journal of Clinical Medicine Mar 2023Despite surgical correction, children with anorectal malformations may experience long-term bowel dysfunction, including fecal incontinence and/or disorders of... (Review)
Review
Despite surgical correction, children with anorectal malformations may experience long-term bowel dysfunction, including fecal incontinence and/or disorders of evacuation. Anorectal manometry is the most widely used test of anorectal function. Although considerable attention has been devoted to its application in the anorectal malformation cohort, there have been few attempts to consolidate the findings obtained. This systematic review aimed to (1) synthesize and evaluate the existing data regarding anorectal manometry results in children following anorectal malformation repair, and (2) evaluate the manometry protocols utilized, including equipment, assessment approach, and interpretation. We reviewed four databases (Embase, MEDLINE, the Cochrane Library, and PubMed) for relevant articles published between 1 January 1985 and 10 March 2022. Studies reporting post-operative anorectal manometry in children (<18 years) following anorectal malformation repair were evaluated for eligibility. Sixty-three studies were eligible for inclusion. Of the combined total cohort of 2155 patients, anorectal manometry results were reported for 1755 children following repair of anorectal malformations. Reduced resting pressure was consistently identified in children with anorectal malformations, particularly in those with more complex malformation types and/or fecal incontinence. Significant variability was identified in relation to manometry equipment, protocols, and interpretation. Few studies provided adequate cohort medical characteristics to facilitate interpretation of anorectal manometry findings within the context of the broader continence mechanism. This review highlights a widespread lack of standardization in the anorectal manometry procedure used to assess anorectal function in children following anorectal malformation repair. Consequently, interpretation and comparison of findings, both within and between institutions, is exceedingly challenging, if not impossible. Standardized manometry protocols, accompanied by a consistent approach to analysis, including definitions of normality and abnormality, are essential to enhance the comparability and clinical relevance of results.
PubMed: 37048627
DOI: 10.3390/jcm12072543 -
Neurourology and Urodynamics Jan 2020In childhood, the most common reason for a neurogenic bladder is related to spinal dysraphism, mostly myelodysplasia.
BACKGROUND
In childhood, the most common reason for a neurogenic bladder is related to spinal dysraphism, mostly myelodysplasia.
AIMS
Herein, we present the EAU/ESPU guidelines in respect to the diagnostics, timetable for investigations and conservative management including clean intermittent catheterization (CIC).
MATERIAL AND METHODS
After a systematic literature review covering the period 2000 to 2017, the ESPU/EUAU guideline for neurogenic bladder underwent an update.
RESULTS
The EAU/ESPU guideline panel advocates a proactive approach. In newborns with spina bifida, CIC should be started as soon as possible after birth. In those with intrauterine closure of the defect, urodynamic studies are recommended be performed before the patient leaves the hospital. In those with closure after birth urodynamics should be done within the next 3 months. Anticholinergic medication (oxybutynin is the only well-investigated drug in this age group-dosage 0.2-0.4 mg/kg weight per day) should be applied, if the urodynamic study confirmed detrusor overactivity. Close follow-up including ultrasound, bladder diary, urinalysis, and urodynamics are necessary within the first 6 years and after that the time intervals can be prolonged, depending on the individual risk and clinical course. In all other children with the suspicion of a neurogenic bladder due to various reasons as tethered cord, inflammation, tumors, trauma, or other reasons as well as those with anorectal malformations, urodynamics-preferable video-urodynamics, should be carried out as soon as there is a suspicion of a neurogenic bladder and conservative treatment should be started soon after confirmation of the diagnosis of neurogenic bladder. With conservative treatment the upper urinary tract is preserved in up to 90%, urinary tract infections are common, but not severe, complications of CIC are quite rare and continence can be achieved at adolescence in up to 80% without further treatment.
DISCUSSION AND CONCLUSIONS
The transition into adulthood is a complicated time for both patients, their caregivers and doctors, as the patient wants to become independent from caregivers and treatment compliance is reduced. Also, transition to adult clinics for patients with neurogenic bladders is often not well-established.
Topics: Adolescent; Child; Conservative Treatment; Female; Humans; Intermittent Urethral Catheterization; Male; Urinary Bladder, Neurogenic
PubMed: 31724222
DOI: 10.1002/nau.24211 -
Pediatric Surgery International Jan 2020Hirschsprung's disease (HSCR) and anorectal malformation (ARM) are often associated with other congenital malformations, but the association of each other is rare. Some...
BACKGROUND/PURPOSE
Hirschsprung's disease (HSCR) and anorectal malformation (ARM) are often associated with other congenital malformations, but the association of each other is rare. Some studies have reported the incidence of HSCR associated with ARM ranging from 2.0 to 3.4%. The purpose of this study was to update the current epidemiological and therapeutic features of this rare congenital association.
METHODS
A systematic literature search for relevant articles was performed in four databases using a combination of the following terms "association of Hirschsprung's disease and anorectal malformation", "aganglionosis and anorectal malformation" and "congenital megacolon and anorectal malformation" for studies published between 1952 and 2019. Reference lists were screened for additional cases.
RESULTS
Forty-three studies met the defined inclusion criteria, reporting a total of 126 patients who were diagnosed with HSCR with ARM. Thirty articles reported 42 single case reports of this association. Twelve articles reported 66 cases of HSCR in case series of 3309 ARM patients, resulting in an incidence of 2% of this association. Associated syndrome was found in 25 cases (20%): Currarino syndrome in 11, Down syndrome in 8, Cat eye syndrome in 4 and Pallister-Hall syndrome in 2 patients. Extent of aganglionosis was reported in 62 cases: short or rectosigmoid aganglionosis was reported in 44, long segment aganglionosis in 8, total colonic aganglionosis in 9 and total intestinal aganglionosis in 1 case.
CONCLUSION
Although the association of ARM and HSCR is rare, the incidence of HSCR among ARM cases seems to be higher than in the general pediatric population. There was a high incidence of coexistence of ARM and HSCR with severe associated syndromes.
Topics: Anorectal Malformations; Child; Hirschsprung Disease; Humans
PubMed: 31552492
DOI: 10.1007/s00383-019-04580-4 -
Pediatric Surgery International Aug 2022Children with anorectal malformation (ARM) often continue to have disturbances in bowel function long after reconstructive surgery. Anorectal manometry may be utilized... (Review)
Review
Children with anorectal malformation (ARM) often continue to have disturbances in bowel function long after reconstructive surgery. Anorectal manometry may be utilized to evaluate bowel function in these children. We aimed to describe the reported protocols and manometric findings in children with ARM post-reconstructive surgery and to investigate the correlation between manometric evaluation and bowel functional outcome. PubMed, EMBASE, and Google Scholar databases were searched from 1980 to 2021. Data were reviewed and extracted independently by two authors, in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses. Included studies were English articles reporting postoperative assessment of children (≤ 18 years) with ARM using anorectal manometry. From 128 articles obtained in the initial search, five retrospective cohort studies and one prospective study fulfilled inclusion criteria. The rectoanal inhibitory reflex and mean anal resting pressure were parameters most often reported to correlate with postoperative bowel function. The least reported parameters among the studies were high-pressure zone, rectal volume, and rectal sensation. Anorectal manometry could be an objective method providing important information for personalized management of postoperative ARM patients with bowel function issues, but lack of standardized protocols limits a comprehensive analysis of their utility.
Topics: Anal Canal; Anorectal Malformations; Child; Fecal Incontinence; Humans; Manometry; Prospective Studies; Rectum; Retrospective Studies
PubMed: 35727358
DOI: 10.1007/s00383-022-05152-9 -
Pediatric Surgery International Jan 2017Congenital H-type fistula is a rare congenital rectourogenital connection with an external anal opening in a normal or ectopic position. A systematic review was done to... (Review)
Review
Congenital H-type fistula is a rare congenital rectourogenital connection with an external anal opening in a normal or ectopic position. A systematic review was done to study the anatomical types of congenital H-type fistula, embryology, clinical presentation, relative gender distribution, associated anomalies, investigative modalities, and recent advances in treatment of these lesions. A PubMed search included H-type anorectal malformation; H-type anorectal malformations; H-type anorectal; and H-type congenital anorectal that gave 9;43;76;26 abstracts, respectively. Relevant studies and cited articles were studied omitting duplicate search. The reported incidence is 0.1-16 % of all anorectal malformation. The H-type anorectal malformation is 2.5-6 times more common in females and usually associated with a normal anus. In males, the anomaly is usually a variant with an ectopic anus or a perineal fistula. Anatomical types include anovestibular; rectovestibular; rectovaginal fistula in females and rectourethral (bulbar, prostatic, bladder neck) and rectovesical fistula in males. Variants identified include H-type fistula with perineal fistula, perineal groove, H-type sinus, H-type canal, and acquired H-type fistula. This review compiles the available literature over last six decades. Various surgical corrective procedures have been described. The high recurrence decreases with a learning curve and experience.
Topics: Anal Canal; Anorectal Malformations; Female; Humans; Rectum
PubMed: 27695999
DOI: 10.1007/s00383-016-3982-2 -
Journal of Pediatric Surgery Sep 2022The purpose of this study is to describe all published studies of single-stage procedures for anorectal malformations and to perform a meta-analysis of studies that... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
The purpose of this study is to describe all published studies of single-stage procedures for anorectal malformations and to perform a meta-analysis of studies that compared single-stage to staged procedures.
METHODS
Searches were conducted in Pubmed, Medline, Embase and CENTRAL. Meta-analysis was performed in RevMan and expressed as forest plots with odds ratios (OR) and 95% confidence intervals (CI).
RESULTS
Thirty-eight studies were included in the narrative synthesis. Nine studies were included in the meta-analysis, representing 537 patients. The majority (70%) of patients included in this meta-analysis had either perineal or vestibular fistulas. Surgical site infection (SSI) was defined as any reported infection involving the neoanus (both superficial infection and dehiscence) and occurred in 51 of the 291 patients who underwent single-stage procedures, and 26 of the 244 patients who underwent staged procedure. Meta-analysis showed a 2.2 times higher risk of surgical site infection (SSI) amongst patients who undergo single-stage procedures (OR 2.22, 95% CI 1.26, 3.92). Six of the 293 patients (2%) who underwent single-stage procedures required a rescue ostomy for wound dehiscence. In LMIC the risk of wound dehiscence was three-fold higher in single-stage (36/202) compared to staged procedures (12/126) (OR 3.07, 95% CI 1.42, 6.63). In HIC there was no evidence of an increased risk of wound dehiscence in patients who underwent a single-stage (15/91) compared to a staged procedure (14/118) (OR 1.51, 95% CI 0.65, 3.51). There is no evidence of a difference between single-stage versus staged procedures with regards to functional outcomes including voluntary bowel movements (79/90 versus 111/128), soiling (24/165 versus 20/203) or constipation (27/90 versus 36/128).
CONCLUSION
This systematic review provides further evidence that single-stage procedures for selected patients with anorectal malformations are safe. Whilst there is evidence of an increased risk of SSI, this did not translate to a significant difference in long-term functional outcomes.
LEVELS OF EVIDENCE
Level II.
Topics: Anorectal Malformations; Constipation; Humans; Perineum; Rectal Fistula; Surgical Wound Infection
PubMed: 35063254
DOI: 10.1016/j.jpedsurg.2021.12.024 -
Neurogastroenterology and Motility Dec 2022Children with anorectal malformations may experience constipation and fecal incontinence following repair. The contribution of altered anorectal function to these... (Review)
Review
BACKGROUND
Children with anorectal malformations may experience constipation and fecal incontinence following repair. The contribution of altered anorectal function to these persistent symptoms is relatively intuitive; however, colonic motility in this cohort is less well understood. Manometry may be used to directly assess colonic motility.
PURPOSE
The purpose of this systematic review was to synthesize the available evidence regarding post-operative colonic motility in children with anorectal malformations and evaluate the reported equipment and protocols used to perform colonic manometry in this cohort. This systematic review was conducted in compliance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA). We conducted a systematic review of four databases: Embase, MEDLINE, PubMed, and the Cochrane Library (1 January 1985-22 July 2021). Studies reporting colonic manometry performed in children following anorectal malformation repair were assessed for eligibility. Data were extracted independently by two authors. Four studies were eligible for inclusion. Of the combined total cohort of 151 children, post-operative colonic manometry was conducted in 35. Insufficient reporting of medical characteristics, bowel function, and manometric outcomes restricted comparison between studies, and limited clinical applicability. No results from high-resolution colonic manometry were identified. Despite the prevalence of post-operative bowel dysfunction in children with repaired anorectal malformations, this systematic review highlighted the markedly limited evidence regarding post-operative colonic motility. This cohort may benefit from assessment with high-resolution techniques; however, future work must emphasize adherence to standardized manometry protocols, and include robust reporting of surgical characteristics, bowel function, and manometric outcomes.
Topics: Child; Humans; Anorectal Malformations; Rectum; Anal Canal; Manometry; Colon; Constipation; Fecal Incontinence
PubMed: 35699343
DOI: 10.1111/nmo.14415 -
Journal of Pediatric Surgery Mar 2022Little is known about psychosocial and behavioral factors that impact the quality of life of patient's with anorectal malformations (ARM) and Hirschsprung disease... (Review)
Review
INTRODUCTION
Little is known about psychosocial and behavioral factors that impact the quality of life of patient's with anorectal malformations (ARM) and Hirschsprung disease (HSCR). We aimed to highlight the psychosocial, emotional, and behavioral themes that affect these patients.
METHODS
A qualitative literature review of articles published between 1980 and 2019 was performed. Articles that reported quality of life (QoL) measures not directly related to bowel function and incorporated data on patients aged 0-21 years old were included. Data were separated based on distinct developmental time points.
RESULTS
In the neonatal period, parents relayed uncertainty about the future and feeling overwhelmed by lack of social support. Difficulties with anxiety, peer rejection, and behavioral problems were noted in primary grades, while adolescents experienced low self-confidence, poor body image, and depression. Young adults expressed hesitancy to engage in romantic relationships or sexual activity. Lack of long-term follow-up, an incomplete transition to adult healthcare, and lack of psychology services leave young adults without guidance to manage a chronic condition.
CONCLUSION
Multiple psychosocial stressors are present in the lives of ARM and HSCR patients. Provision of developmentally matched medical, psychological, and community-based supports for ARM and HSCR patients and their families can lead to improved QoL.
Topics: Adolescent; Adult; Anorectal Malformations; Child; Child, Preschool; Hirschsprung Disease; Humans; Infant; Infant, Newborn; Parents; Quality of Life; Social Support; Young Adult
PubMed: 34127258
DOI: 10.1016/j.jpedsurg.2021.05.004 -
European Urology Open Science Mar 2021Long-term urinary and sexual outcomes after repair of anorectal malformations (ARMs) are currently affected by concomitant malformations of the urinary tract and... (Review)
Review
CONTEXT
Long-term urinary and sexual outcomes after repair of anorectal malformations (ARMs) are currently affected by concomitant malformations of the urinary tract and genitalia, sacral anomalies, and the surgical approach. However, the overall prevalence of urinary and sexual dysfunction remains unclear.
OBJECTIVE
To evaluate the prevalence of urinary and sexual dysfunction in patients aged >10 yr after repair of ARM in infancy.
EVIDENCE ACQUISITION
A systematic literature review was performed using the Medline, Embase, and Cochrane databases. Selected studies were reviewed according to the Consolidated Standards of Reporting Trials (CONSORT) and Standards for the Reporting of Diagnostic Accuracy Studies (STARD) criteria. We included studies reporting the prevalence of the following outcomes: urinary incontinence (UI), lower urinary tract symptoms (LUTS), neurogenic bladder dysfunction (NBD), sexual dysfunction (SD), erectile dysfunction (ED), ejaculatory dysfunction, and birth rate. We initially identified 588 studies, of which 17 were included for evidence synthesis.
EVIDENCE SYNTHESIS
A probabilistic meta-analysis on each subgroup revealed the following combined prevalence estimates: UI 16% (95% confidence interval [CI] 7-27%), LUTS/NBD 36% (95% CI 13-62%), SD among women 50% (95% CI 34-66%), ED 12% (95% CI 7-18%), ejaculatory dysfunction 16% (95% CI 9-25%), and birth rate 20% (95% CI 7-38%). Subgroup analysis showed a higher prevalence of ED and ejaculatory dysfunction among patients with high ARM severity when compared to low ARM severity.
CONCLUSIONS
Among patients undergoing ARM repair, we found a high prevalence of long-term impairment of UI, ED, and SD. We stress the need for larger multicentre trials with more comparable populations to optimise treatment and follow-up regimens.
PATIENT SUMMARY
We reviewed long-term outcomes for patients with anorectal malformations who underwent surgery and found that both urinary incontinence and sexual dysfunctions are common for both males and females.
PubMed: 34337501
DOI: 10.1016/j.euros.2021.01.007 -
Journal of Pediatric Surgery Jun 2024The literature on transitional care in anorectal malformation (ARM) and Hirschsprung's disease (HD) is diverse and heterogeneous. There is a lack of standards and...
BACKGROUND
The literature on transitional care in anorectal malformation (ARM) and Hirschsprung's disease (HD) is diverse and heterogeneous. There is a lack of standards and guidelines specific to transitional care in these conditions. We aim to establish and systematically categorize challenges and solutions related to colorectal transition care.
METHODS
Systematic review of qualitative studies from MEDLINE, EMBASE, PubMed and Scopus databases (2008-2022) was conducted to identify the challenges and solutions of healthcare transition specific to ARM and HD. Thematic analyses are reported with reference to patient, healthcare provider and healthcare system.
RESULTS
Sixteen studies from 234 unique articles were included. Fourteen themes related to challenges and solutions, each, are identified. Most challenges identified are patient related. The key challenges pertain to: (1) patient's lack of understanding of their disorder, resulting in over-reliance on the pediatric surgical team and reluctance towards transitioning to adult services; (2) a lack of education and awareness among adult colorectal surgeons in caring for pediatric colorectal conditions and inadequate communication between pediatric and adult teams; and (3) a lack of structured transition program and joint-clinic to meet the needs of the transitioning patients. The key solutions are: (1) fostering young adult patient's autonomy and independence; (2) conducting joint pediatric-adult transition clinics; and (3) ensuring a structured and coordinated transition program is available using a standardized guideline.
CONCLUSION
A comprehensive framework related to barriers and solutions for pediatric colorectal transition is established to help benchmark care quality of transitional care services.
LEVEL OF EVIDENCE
IV.
TYPE OF STUDY
Systematic review without meta-analysis.
Topics: Humans; Hirschsprung Disease; Anorectal Malformations; Transition to Adult Care
PubMed: 37996349
DOI: 10.1016/j.jpedsurg.2023.10.066