Long-term outcomes and multidisciplinary management in children with anorectal malformations

Long-term outcomes and management of ARMs

Article information

Kosin Med J. 2025;40(3):167-176

Publication date (electronic) : 2025 September 23

doi : https://doi.org/10.7180/kmj.25.120

Hira Ahmad ¹^,²

, Ashish Chogle ²^,³

, Zoe Flyer ¹

, Donald Shaul ¹^,²

, Gyu Min Yeon ⁴

, Seom Gim Kong ⁴

, So Yoon Choi^,⁴^,⁵

¹Division of Pediatric General and Thoracic Surgery, Children’s Hospital of Orange County, Orange, CA, USA

²Department of Pediatrics, University of California, Irvine, School of Medicine, Irvine, CA, USA

³Division of Pediatric Gastroenterology, Hepatology and Nutrition, Children’s Hospital of Orange County, Orange, CA, USA

⁴Department of Pediatrics, Kosin University Gospel Hospital, Kosin University College of Medicine, Busan, Korea

⁵Division of Pediatric Gastroenterology, Hepatology and Nutrition, Kosin University Gospel Hospital, Kosin University College of Medicine, Busan, Korea

Corresponding Author: So Yoon Choi, MD, PhD Division of Pediatric Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Kosin University Gospel Hospital, Kosin University College of Medicine, 262 Gamcheon-ro, Seo-gu, Busan 49267, Korea Tel: +82-51-990-6114 Fax: +82-51-990-3005 E-mail: ks200546@kosinmed.org

Received 2025 July 9; Revised 2025 August 12; Accepted 2025 September 1.

Abstract

Anorectal malformations (ARMs) represent a spectrum of congenital anomalies affecting the distal rectum and anus, often accompanied by genitourinary and spinal defects. Despite advances in surgical techniques, long-term gastrointestinal dysfunction, such as fecal incontinence and chronic constipation, remains prevalent in individuals with various types of ARMs. These persistent challenges contribute to considerable psychosocial morbidity, including anxiety, depression, and diminished quality of life. Integrated mental health, nutritional, and social support are essential to address the complex needs of ARM patients. Effective management requires a stepwise approach, beginning with dietary modifications and behavioral therapy, and progressing to pharmacological, surgical, and neuromodulatory interventions as clinically indicated. Long-term follow-up and structured transitional care, especially during adolescence, are critical for promoting medical autonomy and addressing sexual and reproductive health. International and national registries support data standardization and multicenter collaboration. Future research should prioritize identifying predictive biomarkers, refining neuromodulation, characterizing microbiome-related mechanisms, and utilizing artificial intelligence to personalize care. Sustained multidisciplinary efforts are critical to improving functional outcomes and overall quality of life in children with ARMs.

Keywords: Anorectal malformations; Long-term care; Postoperative care

Introduction

Anorectal malformations (ARMs) represent a spectrum of congenital anomalies involving the distal rectum and anus, frequently accompanied by genitourinary, spinal, or vertebral defects [1,2]. The estimated global incidence is approximately 1 in 5,000 live births, though minor anomalies may be underreported [3]. In Korea, the incidence is approximately 4.9 per 10,000 live births based on congenital anomaly registry data, which includes ARM-related categories [4]. Moreover, a single-center Korean study reported that 65% of patients with ARMs have at least one associated anomaly, most commonly genitourinary, cardiovascular, or spinal [5].

Despite improvements in anatomical outcomes following surgical correction, particularly posterior sagittal anorectoplasty (PSARP), gastrointestinal (GI) dysfunction remains a prevalent concern [6,7]. Children with ARMs often experience fecal incontinence, constipation, and psychosocial limitations that adversely affect both physical and emotional health [8-13]. Although technological advances and multidisciplinary care models have enhanced long-term follow-up, consistent outcome data and standardized care are still lacking [14-18]. This review synthesizes current knowledge on long-term outcomes and multidisciplinary management strategies for children with ARMs.

Classification and surgical management

ARMs are classified using the Krickenbeck classification system, which categorizes malformations into two primary groups: major clinical types and rare or regional variants [2]. Major types include perineal fistula, rectourethral (bulbar or prostatic) fistula, rectovesical fistula, vestibular fistula, cloaca, and anal stenosis. Rare variants include pouch colon, H-type fistula, rectal atresia or stenosis, and rectovaginal fistula. This system emphasizes fistula type and location, providing a practical framework for clinical decision-making [2,19].

Surgical correction is typically performed during the neonatal period and depends on the type and severity of the malformation, as well as the presence of associated anomalies [6]. PSARP remains the most widely utilized technique, particularly for complex or high-type malformations [7,20]. Minimally invasive approaches, including laparoscopic-assisted anorectal pull-through (LAARP) and robotic-assisted procedures, have been introduced for selected cases of high-type ARMs [20-23]. In contrast, for patients with a perineal fistula, a simpler perineal approach such as anoplasty may be sufficient, especially when the rectal pouch lies close to the perineal skin.

Preoperative imaging is essential for accurately characterizing the malformation and effective surgical planning. Among available modalities, the distal loopogram, a fluoroscopic study performed via the distal stoma, is commonly prioritized in staged procedures, as it allows direct visualization of the fistula and rectal pouch. Additionally, pelvic magnetic resonance imaging (MRI) and ultrasound, with or without contrast, are particularly useful for identifying associated anomalies and evaluating the anatomy of the sphincter complex [24,25]. Despite successful anatomical reconstruction, functional outcomes vary considerably, underscoring the importance of sustained, multidisciplinary follow-up [26-28].

Long-term outcomes

1. Long-term GI outcomes

Long-term GI function in patients with ARMs is typically evaluated using a combination of diagnostic modalities, including contrast studies, anorectal or colonic manometry, and bowel diaries. Among these, the Krickenbeck functional scoring scale is the most widely adopted tool for standardized assessment. This scale evaluates three key domains: voluntary bowel movements, soiling, and constipation, offering a structured framework for monitoring functional outcomes across developmental stages [2]. It is applicable across all malformation types and facilitates consistent comparisons across studies and clinical settings.

1) Fecal incontinence

Fecal incontinence remains a prevalent and challenging long-term complication in children with ARMs, particularly among those with complex fistula types such as rectovesical or rectoprostatic fistulas, cloacal malformations, or coexisting spinal anomalies. Reported prevalence ranges from 14.7% to over 60%, depending on the specific malformation and associated conditions [8,9,11,29].

The pathophysiology of incontinence is multifactorial, depending on the precise placement of the neo-anus within the sphincter complex and the functional integrity of the pelvic musculature [30]. Additionally, recent studies underscore the influence of neuroanatomical factors, such as disrupted neural reflexes or impaired central coordination, particularly in patients with coexisting spinal anomalies [31,32]. These insights underscore the need for a neuroanatomically informed approach to management. Notably, many cases of fecal incontinence are not due to true sphincter dysfunction, but rather result from overflow caused by chronic constipation. This secondary form of incontinence may be effectively managed through bowel programs, such as those developed by Peña et al. [20], which utilize scheduled enemas or antegrade irrigation to ensure regular colonic evacuation and support social continence [16,33].

Persistent incontinence often necessitates integrated medical and behavioral interventions, given its psychosocial toll. Nevertheless, long-term studies demonstrate that with sustained management, many patients attain substantial gains in continence and quality of life [7,34].

2) Chronic constipation

Chronic constipation affects approximately 50%–70% of patients with ARMs, regardless of malformation severity [8,9,35-38]. It is associated with dysfunctional colonic motility, poor pelvic coordination, and suboptimal dietary patterns. Emerging evidence also implicates gut microbiota dysbiosis as a contributing factor [39,40]. Children with delayed toilet training or limited family support may be particularly vulnerable to behaviorally reinforced stool withholding. Initial management typically involves dietary modifications and laxatives, such as polyethylene glycol, alongside scheduled toileting routines [41,42]. In refractory cases, advanced imaging and transit studies inform targeted interventions. Colonic manometry and scintigraphy are useful in distinguishing myogenic from neurogenic motility disorders. Poorly managed constipation may exacerbate continence disturbances and negatively impact quality of life [43].

2. Psychosocial and quality-of-life outcomes

Children with ARMs frequently experience emotional and psychosocial challenges, including low self-esteem and limited social engagement, primarily due to fecal incontinence and associated anomalies [10,44]. These challenges are especially pronounced among school-aged children and adolescents, who face an elevated risk for anxiety, depression, and social isolation.

To evaluate these multidimensional impacts, validated instruments such as the Pediatric Quality of Life Inventory and Kinder Lebensqualität questionnaire are frequently employed. These tools assess physical, emotional, social, and school functioning, thereby enabling the development of individualized support strategies [45-47]. Psychological interventions, including cognitive-behavioral therapy and individual counseling, have demonstrated efficacy in enhancing emotional well-being and coping skills, underscoring the importance of integrated mental health services within multidisciplinary care teams.

Recent nationwide Korean studies have highlighted the long-term risks of physical growth retardation and neurodevelopmental delays in children with congenital digestive system anomalies requiring surgery, emphasizing the importance of comprehensive follow-up and early intervention [4].

Emerging evidence also suggests potential gender differences in psychosocial outcomes. Specifically, adolescent girls with ARMs may experience heightened body image concerns and emotional distress, whereas boys appear more susceptible to externalizing behaviors and peer-related challenges. However, these findings are based on limited data, and further gender-specific studies is warranted to guide tailored psychosocial interventions [48].

Beyond child-specific challenges, parental health literacy (HL) has emerged as a key determinant of care quality. A recent study by Olsbø et al. [49] evaluating HL among parents of children with ARM revealed that many encounter difficulties in interpreting medical information, navigating social support systems, and feeling sufficiently informed. Identified predictors of low HL included younger parental age, limited educational background, non-native language use within the household, and having a female child or one with comorbidities. These families may benefit from tailored health education initiatives and communication strategies, particularly during transition periods and pivotal decision-making points [49].

In summary, fecal incontinence, chronic constipation, and psychosocial burden represent the most common and clinically significant long-term outcomes in individuals with ARMs. Table 1 provides an overview of the estimated prevalence, frequent associated factors, and principal management strategies for these key domains, serving as a concise reference for clinicians involved in multidisciplinary care [7-11,16,20,27,29-33,35-38,41-59].

Table 1.

Summary of major long-term outcomes, associated factors, and management approaches in patients with anorectal malformations

Multidisciplinary management strategies

The management of ARMs necessitates a stepwise approach commencing with dietary and behavioral interventions, progressing to pharmacologic therapies, and ultimately integrating surgical and neuromodulatory modalities when clinically indicated. Throughout this continuum, the involvement of a coordinated multidisciplinary team is essential to address the intricate medical, surgical, nutritional, psychological, and social needs that emerge across the patient’s lifespan.

1. Medical approaches

The initial management of bowel dysfunction in children with ARMs begins with a comprehensive evaluation of dietary habits, stooling patterns, and behavioral history [60]. First-line interventions typically include dietary modifications, osmotic laxatives such as polyethylene glycol often combined with fiber supplementation, and the establishment of a structured toileting routine [13]. Functional assessments, including anorectal manometry and colonic transit studies, are essential for tailoring treatment plans to individual patient profiles.

Recent technological advancements have expanded diagnostic capabilities. High-resolution and 3D anorectal manometry are increasingly utilized in pediatric populations, offering detailed assessments of sphincter morphology, segmental pressure dynamics, and sensory thresholds, particularly valuable in children presenting with fecal incontinence or when standard manometric findings are inconclusive [61-65]. Wireless motility capsules have also emerged as a noninvasive alternative for assessing GI transit. Preliminary studies in pediatric populations suggest their feasibility and potential clinical utility [66-68]. However, their application in children with ARM remains limited and is largely investigational.

Regular reassessment is crucial, particularly during key developmental milestones such as school entry or adolescence, when expectations regarding bowel continence often shift. Adapting management strategies to developmental transitions is critical for achieving durable outcomes.

While gut microbiota-targeted therapies and probiotics are being investigated for functional constipation, current evidence does not support their application in children with ARM [69].

2. Surgical and interventional approaches

When conservative treatment is insufficient, surgical alternatives may be considered. The Malone antegrade continence enema (MACE) is commonly used in patients with severe fecal incontinence, with success rates of 70%–85% in achieving social continence [50-52]. While MACE is widely performed in North America, it is rarely performed in Korea, likely due to limited insurance coverage and sociocultural factors. Sacral nerve stimulation is an emerging therapeutic modality for selected patients, particularly those with intact sphincter complexes but impaired neuromuscular coordination; however, long-term pediatric outcomes warrant further validation [53,54]. Redo surgery may be indicated in patients with anal malposition relative to the sphincter and levator muscle complexes that can be confirmed by physical examination with electrical stimulation, pelvic MRI, and 3D anorectal manometry [55-58]. Botulinum toxin injection into the internal anal sphincter or pelvic floor musculature has been trialed in refractory cases, particularly when interventions specific functional disturbances persist [70]. Evidence supporting the utility of neuromodulation is accumulating; however, its availability is limited, and long-term outcomes in pediatric cases remain under investigation.

3. Additional multidisciplinary support

Optimal care for children with ARMs extends beyond medical and surgical interventions, requiring integrated input from a multidisciplinary team. Mental health professionals play a pivotal role in addressing psychological distress, anxiety, and coping challenges that frequently accompany ARM and its complications. Nutritional specialists are essential for monitoring growth, guiding dietary strategies, and managing complex constipation. Social workers and school counselors support family adaptation, facilitate educational integration, and assist in navigating social and economic challenges. A comprehensive, team-based approach is therefore fundamental to enhancing both quality of life and long-term functional outcomes.

4. Long-term follow-up and transitional care

Lifelong multidisciplinary follow-up is imperative for individuals with ARMs, given the complexity of their medical, surgical, urologic, and psychosocial needs. Ideally, care should be coordinated through specialized colorectal centers that can ensure continuity from childhood through adulthood. As patients approach adolescence, structured transition programs should prioritize the development of medical autonomy and address sensitive domains such as sexual health, reproductive counseling, and body image, especially in those with associated genitourinary anomalies [15]. Importantly, adolescence also brings rapid development of the pelvic floor musculature, which may contribute to functional improvement over time, underscoring the need for continued individualized assessment during this critical period.

In patients with cloacal anomalies, transitional care demands highly individualized planning. These patients often encounter complex urogenital challenges that warrant early and ongoing counseling regarding vaginal anatomy, as well as the appropriate timing and method of vaginal reconstruction, whether through progressive dilation or surgical creation of a neovagina. Studies indicate that individuals with cloaca are at an increased risk for sexual dysfunction in adulthood, including dyspareunia and diminished sexual satisfaction [71-73]. Accordingly, coordinated long-term follow-up involving pediatric gynecologists, pediatric urologists, and psychosexual specialists is strongly recommended to optimize reproductive outcomes and enhance overall quality of life.

Effective transitional care should extend beyond the scope of medical management by incorporating structured education for patients and their families regarding disease-specific concerns, sustained self-care, and navigation of available support systems. Peer mentoring and family-centered education serve as essential facilitators, promoting adherence to care and alleviating emotional distress.

To support evidence-based transitional planning and care optimization, national and international collaborative registries play a pivotal role. Platforms such as ARM-Net and the Pediatric Colorectal and Pelvic Learning Consortium facilitate standardized data collection, enable multicenter research, and support benchmarking of long-term outcomes, collectively contributing to improved quality of care and greater patient satisfaction.

Economic considerations

The long-term management of children with ARM presents a considerable economic burden, driven by recurrent outpatient visits, repeat interventions, and ongoing multidisciplinary support. A U.S. study estimated the 5-year cumulative healthcare cost at approximately $273,000 per child [26]. Contrastingly, a European multicenter analysis demonstrated that neonatal surgical correction is cost-effective, with an incremental cost-effectiveness ratio of €2,482 per quality-adjusted life year gained [74]. These findings underscore the value of early intervention and integrated care models in enhancing outcomes while optimizing cost-efficiency in the management of this complex condition.

Future directions and research gaps

Despite advances in surgical techniques and standardized postoperative care, long-term outcomes in patients with ARMs remain heterogeneous, underscoring critical gaps warranting further investigation. Future research should prioritize the development of predictive tools, individualized management strategies, and ensuring seamless continuity of care across the lifespan.

A major gap lies in the early identification of children at risk for poor functional outcomes. Al While anatomical markers such as sacral ratio, spinal anomalies, and sphincter integrity are routinely employed, their predictive accuracy remains suboptimal. Functional scoring systems like the Krickenbeck classification offer utility but lack integration of psychosocial, neurodevelopmental, and age-specific metrics, particularly in adolescents and adults [2].

Neuromodulation therapies, including sacral and tibial nerve stimulation, are emerging treatment options for refractory constipation and incontinence. However, evidence remains restricted to small-scale studies involving select cohorts [59,75,76]. Although recent research has examined noninvasive sacral neuromodulation in children with structural anomalies, its targeted efficacy in ARM populations further validation [77].

The role of the gut-brain axis and intestinal microbiome in ARM-related bowel dysfunction represents a promising frontier. Although findings from Hirschsprung disease and functional constipation suggest a potential link between dysbiosis and motility disorders, no interventional microbiome studies specific to ARM have been published [40,78-80]. This remains a critical avenue for future investigation.

Artificial intelligence and machine learning hold promise for integrating clinical, imaging, and patient-reported data to enable individualized outcome prediction [81-84]. However, these applications remain largely theoretical. Although conceptual models exist, validated artificial intelligence-based tools specific to ARM are currently unavailable, and foundational efforts are needed to standardize input variables and define clinically relevant endpoints.

Furthermore, robust inclusion of patient-reported outcomes and evaluation of psychosocial domains, including mental health, social functioning, and HL, is essential to support holistic care. Future research frameworks should incorporate validated tools that span developmental transitions and assess long-term adult functioning.

Addressing these research gaps will require multicenter collaboration, harmonized outcome measures, and sustained commitment to long-term follow-up. Collectively, such efforts are essential to translating current knowledge into meaningful clinical advancements for individuals with ARMs.

Conclusions

Despite advances in surgical correction, children with ARMs frequently experience persistent GI dysfunction and psychosocial challenges. Optimizing outcomes requires a multidisciplinary, personalized approach that integrates surgical, medical, and psychosocial care. Longitudinal follow-up, transitional care planning, and consideration of health economics are critical to enhancing quality of life and long-term functioning in this complex population.

Notes

Conflicts of interest

No potential conflict of interest relevant to this article was reported.

Funding

None.

Author contributions

Conceptualization: HA, SYC. Investigation: HA, AC, ZF, DS, GMY, SGK, SYC. Project administration: HA, SYC. Supervision: HA, DS, AC, SYC. Writing-original draft: HA, SYC. Writing-review & editing: HA, AC, ZF, DS, GMY, SGK, SYC. All authors have read and approved the final manuscript.

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Outcome	Estimated prevalence	Common associated factors	Key management approaches
Fecal incontinence	15%–60% (varies by malformation type, age, and definition) [8,9,11,27,29]	Rectovesical fistula, rectoprostatic fistula, cloaca, associated spinal anomalies, misplacement of the neo-anus relative to sphincter muscles [7,30-32,55-58]	Comprehensive bowel management programs [16,20,33], Malone antegrade continence enema procedure [50-52], sacral nerve stimulation [53,54,59]
Chronic constipation	20%–80% (most commonly reported as 50%–70%) [8,9,35-38]	Colonic dysmotility, pelvic floor dyssynergia, behavioral stool withholding [36,38,43]	Dietary modifications, osmotic laxatives (e.g., polyethylene glycol) [41,42], toilet training with biofeedback when available [43]
Psychosocial burden	Common to very common (no precise prevalence; frequently reported in school-aged children and adolescents) [10,44-46]	Social stigma, persistent fecal continence issues, concerns related to body image [44,48,49]	Psychological counseling, peer mentoring programs [44,49], routine quality-of-life monitoring [45-47], support with school and community integration [44,49]