-
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 Sep 2013The association of Hirschsprung's disease (HD) and anorectal malformation (ARM) is rare. The exact incidence of this association is not known but HD coexisting with ARM... (Review)
Review
BACKGROUND
The association of Hirschsprung's disease (HD) and anorectal malformation (ARM) is rare. The exact incidence of this association is not known but HD coexisting with ARM has been reported in 2.3 to 3.4% of ARM cases. Most of the reported cases in the literature have been single case reports. The aim of this systematic review was to determine the incidence of HD associated with ARM and its relationship to other syndromes.
METHODS
A systematic review of the literature was performed for the keywords "association of Hirschsprung's disease and anorectal malformation", "aganglionosis and anorectal malformation" as well as "congenital megacolon and anorectal malformation". Resulting publications were reviewed for epidemiology, operative treatment and morbidity. Reference lists were screened for additional cases.
RESULTS
A total of 38 articles reported 90 cases of HD coexisting with ARM from 1952 to 2013. Twenty eight articles reported 40 single case reports of this association. Ten articles reported 50 cases of HD in case series of 2,465 ARM patients, resulting in an incidence of 2% of this association. Gender was reported in 63 cases, with 30 males (48%) and 33 females (52%). Associated syndromes were reported in 23 patients: Currarino syndrome in 11, Down syndrome in 8, Cat eye syndrome in 3 and Pallister-Hall syndrome in one case. Extent of aganglionosis was reported in 49 cases and included classical rectosigmoid disease in 36, long segment aganglionosis in 5, total colonic aganglionosis in 7 and total intestinal aganglionosis in one patient. In 35% of the patients stoma was created in the aganglionotic region and failed to work. There was a median delay of 8 months for the diagnosis of HD from initial diagnosis of ARM. Various surgical techniques were employed for the pull-through operation for HD.
CONCLUSION
The review confirms that the recognition of HD is often delayed because of the initial diagnosis of ARM and the fact that the dysfunctional colostomy is usually proximal to the affected aganglionotic bowel. There is a high incidence of associated syndromes when HD coexists with ARM.
Topics: Anorectal Malformations; Anus, Imperforate; Female; Hirschsprung Disease; Humans; Infant; Infant, Newborn; Male
PubMed: 23948812
DOI: 10.1007/s00383-013-3352-2 -
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 -
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 -
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 -
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 -
Orphanet Journal of Rare Diseases May 2011Anorectal malformations (ARM) are rare forms of congenital uro-rectal anomalies with largely unknown causes. Besides genetic factors, prenatal exposures of the parents... (Review)
Review
BACKGROUND
Anorectal malformations (ARM) are rare forms of congenital uro-rectal anomalies with largely unknown causes. Besides genetic factors, prenatal exposures of the parents to nicotine, alcohol, caffeine, illicit drugs, occupational hazards, overweight/obesity and diabetes mellitus are suspected as environmental risk factors.
METHODS
Relevant studies published until August 2010 were identified through systematic search in PubMed, EMBASE, ISI Web of Knowledge and the Cochrane Library databases. Furthermore, related and cross-referencing publications were reviewed. Pooled odds ratios (95% confidence intervals) were determined to quantify associations of maternal and paternal smoking, maternal alcohol consumption, underweight (body mass index [BMI] < 18.5), overweight (BMI 25-29.9), obesity (BMI ≥30) and maternal diabetes mellitus with ARM using meta-analyses.
RESULTS
22 studies that reported on the association between prenatal environmental risk factors and infants born with ARM were included in this review. These were conducted in the United States of America (n = 12), Spain (n = 2), Sweden (n = 2), the Netherlands (n = 2), Japan (n = 1), France (n = 1), Germany (n = 1) and Hungary (n = 1). However, only few of these studies reported on the same risk factors. Studies were heterogeneous with respect to case numbers, control types and adjustment for covariates. Consistently increased risks were observed for paternal smoking and maternal overweight, obesity and diabetes, but not for maternal smoking and alcohol consumption. In meta-analyses, pooled odds ratios (95% confidence intervals) for paternal smoking, maternal overweight, obesity, pre-gestational and gestational diabetes were 1.53 (1.04-2.26), 1.25 (1.07-1.47), 1.64 (1.35-2.00), 4.51 (2.55-7.97) and 1.81 (1.23-2.65), respectively.
CONCLUSION
Evidence on risk factors for ARM from epidemiological studies is still very limited. Nevertheless, the few available studies indicate paternal smoking and maternal overweight, obesity and diabetes to be associated with increased risks. Further, ideally large-scale multicentre and register-based studies are needed to clarify the role of key risk factors for the development of ARM.
Topics: Anorectal Malformations; Anus, Imperforate; Female; Hazardous Substances; Humans; Infant, Newborn; Pregnancy; Prenatal Exposure Delayed Effects; Risk Factors
PubMed: 21586115
DOI: 10.1186/1750-1172-6-25 -
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 -
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