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Rialon KL, Smith C, Rentea RM, Acker SN, Baird R, Beres AL, Chang HL, Christison-Lagay ER, Diesen DL, Englum BR, Gonzalez KW, Gulack BC, Ham PB, Huerta CT, Kulaylat AN, Levene TL, Lucas DJ, Mansfield SA, Pennell C, Ricca RL, Sulkowski JP, Tashiro J, Wakeman D, Yousef Y, Kelley-Quon LI, Kawaguchi A. Functional Outcomes for Patients With Congenital Anorectal Malformations: A Systematic Review and Evidence-based Guideline From the APSA Outcomes and Evidence Based Practice Committee. J Pediatr Surg 2025; 60:162243. [PMID: 40023107 DOI: 10.1016/j.jpedsurg.2025.162243] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 01/16/2025] [Accepted: 02/11/2025] [Indexed: 03/04/2025]
Abstract
OBJECTIVE Consensus on functional outcomes for anorectal malformations (ARM) is hindered by the heterogeneity of the available literature. Optimal patient counseling includes discussion of short- and long-term outcomes for bowel and urinary continence, sexual and psychosocial function, transitional care, and quality of life. This systematic review examines and summarizes the current literature available related to functional outcomes for children with ARM. METHODS The American Pediatric Surgical Association Outcomes and Evidence Based Practice Committee drafted consensus-based questions regarding anorectal malformations. Pertinent articles from 1985 to 2021 were reviewed. RESULTS More than 10,843 publications were reviewed with 109 being included in the final recommendations. Recommendations are primarily based on C-D levels of evidence. Continence and constipation rates were higher in patients with perineal fistula and rectovestibular fistula, although symptoms tended to improve as patients got older. Urological anomalies are common and longer term urologic surveillance protocols for patients with ARM need to be further outlined. Sexual and psychosocial issues are common, but ARM patients can have a good quality of life when gastrointestinal symptoms are minimized. Many of the problems associated with ARM can persist into adulthood, supporting structured care plans as patients transition to adult care. CONCLUSIONS Evidence to support best practices and achieve optimal outcomes for patients with ARM is lacking for many aspects of care. Multi-institutional registries have begun to address management and prognosis for these patients. Prospective and comparative studies are needed to improve care and provide consensus guidelines for this complex patient population. LEVEL OF EVIDENCE: 4
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Affiliation(s)
- Kristy L Rialon
- Division of Pediatric Surgery, Texas Children's Hospital, Baylor College of Medicine, Houston, TX, USA.
| | | | - Rebecca M Rentea
- Division of Pediatric Surgery, Children's Mercy- Kansas City, University of Missouri, Kansas City, MO, USA
| | - Shannon N Acker
- Division of Pediatric Surgery, Children's Hospital Colorado, Aurora, CO, USA
| | - Robert Baird
- Division of Pediatric Surgery, BC Children's Hospital, Vancouver, BC Canada
| | - Alana L Beres
- Division of Pediatric Surgery, St. Christopher's Hospital for Children, Drexel University School of Medicine, Philadelphia, PA, USA
| | - Henry L Chang
- Division of Pediatric Surgery, Johns Hopkins All Children's Hospital, St. Petersburg, FL, USA
| | - Emily R Christison-Lagay
- Division of Pediatric Surgery, Yale School of Medicine, Yale-New Haven Children's Hospital, New Haven, CT, USA
| | - Diana L Diesen
- Division of Pediatric Surgery, University of Texas Southwestern, Dallas, TX, USA
| | - Brian R Englum
- Division of Pediatric Surgery, University of Maryland School of Medicine, Baltimore, MD, USA
| | | | - Brian C Gulack
- Division of Pediatric Surgery, Rush University Medical Center, Chicago IL, USA
| | - P Benson Ham
- Department of Surgery, Division of Pediatric Surgery, University at Buffalo, John R. Oishei Children's Hospital, Buffalo, NY, USA
| | - Carlos T Huerta
- DeWitt Daughtry Family Department of Surgery, University of Miami, Miami, FL, USA
| | - Afif N Kulaylat
- Division of Pediatric Surgery, Penn State Children's Hospital, Hershey, PA, USA
| | - Tamar L Levene
- Division of Pediatric Surgery, Joe DiMaggio Children's Hospital, Hollywood, FL, USA
| | - Donald J Lucas
- Department of Surgery, Uniformed Services University of the Health Sciences, Bethesda, MD, USA
| | - Sara A Mansfield
- Division of Pediatric Surgery, Nationwide Children's Hospital, Columbus, OH, USA
| | | | - Robert L Ricca
- Division of Pediatric Surgery, University of South Carolina, Greenville, SC, USA
| | - Jason P Sulkowski
- Division of Pediatric Surgery, Children's Hospital of Richmond at Virginia Commonwealth University, Richmond, VA, USA
| | - Jun Tashiro
- Division of Pediatric Surgery, Hassenfeld Children's Hospital at NYU Langone Health, New York, NY, USA
| | - Derek Wakeman
- Division of Pediatric Surgery, University of Rochester, Rochester, NY, USA
| | - Yasmine Yousef
- Division of Pediatric Surgery, Joe DiMaggio Children's Hospital, Hollywood, FL, USA
| | - Lorraine I Kelley-Quon
- Division of Pediatric Surgery, Children's Hospital Los Angeles, Department of Surgery, University of Southern California, Los Angeles, CA, USA
| | - Akemi Kawaguchi
- Department of Pediatric Surgery, University of Texas - Houston, Houston, TX, USA
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Gertler J, Oddsberg J, Gunnarsdóttir A, Svenningsson A, Wester T, Örtqvist L. Sexual function and fertility in young female adults surgically treated for anorectal malformations. Pediatr Surg Int 2024; 40:269. [PMID: 39387935 PMCID: PMC11467109 DOI: 10.1007/s00383-024-05847-1] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Accepted: 09/27/2024] [Indexed: 10/12/2024]
Abstract
PURPOSE The aim was to investigate sexual function and fertility in female adults operated on for anorectal malformations (ARM). METHODS This was a cross-sectional questionnaire-based study including female adult patients treated for ARM at our institution between 1994 and 2003. Sexual function in females was assessed using the Profile of Sexual Function (PFSF). Additional questions regarding fertility were answered by the participants. Patient characteristics were retrospectively retrieved from the medical records and descriptive statistics were used for analysis. Sexual function outcomes were compared to a control group from a previously published group of females. Composite outcome analysis was performed using previously published data to determine the potential impact of bowel function and health-related quality of life on sexual function. The ethics review authorities approved the study. RESULTS A total of 14 of 30 (46.7%) females responded to the questionnaires and had a mean age of 21.1 years (range 18-26). No association was found between PFSF and age or bowel function (Bowel Function Score), however, a strong correlation was found between PFSF and health-related quality of life (HRQoL) with a Spearman correlation of ρ 0.82 (p = 0.0011). The general satisfaction question was strongly associated with their total PFSF score (ρ = 0.71, p = 0.0092). Except for the "desire" item, the females in this cohort did not have significantly worse sexual function than the control population(p = 0.015). Ten of fourteen (71.4%) females had had their sexual debut at a mean age of 16.3 years and two of these women (20%) have been pregnant. All females had had menarche at a mean age of 12.7 years. CONCLUSION Sexual function in adult females was comparable to healthy controls except for the "desire" item where the cohort reported poorer outcomes. The cohort's sexual function had a direct association with their reported HRQoL where individuals with worse HRQoL also reported poorer sexual function. LEVEL OF EVIDENCE III.
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Affiliation(s)
- Joshua Gertler
- Unit of Pediatric Surgery, Astrid Lindgren's Children's Hospital, Karolinska University Hospital, Eugeniavägen C11:33 Solna, 17176, Stockholm, Sweden.
- Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden.
| | - Jenny Oddsberg
- Unit of Pediatric Surgery, Astrid Lindgren's Children's Hospital, Karolinska University Hospital, Eugeniavägen C11:33 Solna, 17176, Stockholm, Sweden
- Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden
| | - Anna Gunnarsdóttir
- Unit of Pediatric Surgery, Astrid Lindgren's Children's Hospital, Karolinska University Hospital, Eugeniavägen C11:33 Solna, 17176, Stockholm, Sweden
- Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden
| | - Anna Svenningsson
- Unit of Pediatric Surgery, Astrid Lindgren's Children's Hospital, Karolinska University Hospital, Eugeniavägen C11:33 Solna, 17176, Stockholm, Sweden
- Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden
| | - Tomas Wester
- Unit of Pediatric Surgery, Astrid Lindgren's Children's Hospital, Karolinska University Hospital, Eugeniavägen C11:33 Solna, 17176, Stockholm, Sweden
- Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden
| | - Lisa Örtqvist
- Unit of Pediatric Surgery, Astrid Lindgren's Children's Hospital, Karolinska University Hospital, Eugeniavägen C11:33 Solna, 17176, Stockholm, Sweden
- Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden
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Reppucci ML, Alaniz VI, Wehrli LA, Torre LDL, Wood D, Wilcox DT, Appiah LC, Peña A, Bischoff A. Reproductive and Family Building Considerations for Female Patients with Anorectal And Urogenital Malformations. J Pediatr Surg 2023; 58:1450-1457. [PMID: 36229236 DOI: 10.1016/j.jpedsurg.2022.09.004] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 06/15/2022] [Revised: 09/04/2022] [Accepted: 09/12/2022] [Indexed: 11/16/2022]
Abstract
BACKGROUND Little is known about fertility and pregnancy outcomes in patients with anorectal malformations (ARM), particularly those with long common channel cloaca and cloacal exstrophy who may have impaired fertility. The purpose of this study is to describe pregnancy and offspring data from a cohort of patients with ARM. METHODS A retrospective review of female patients with ARM from our database, which includes patients operated on since 1980, was performed as well as a review of the literature. Demographic, operative, and self-reported fertility, obstetric, and offspring data were collected. RESULTS There were 37 females identified in our database who reported any pregnancy or having children. There were 59 pregnancies, 48 (81.3%) of which resulted in live birth. The most common mode of delivery was cesarean delivery. There were five patients with long channel cloaca (>3 cm) and one with cloacal exstrophy that reported 11 total pregnancies, eight of which resulted in live birth. Four cloaca patients in which the native vagina was pulled through were able to conceive spontaneously. Three patients with cloacal anomalies required in vitro fertilization to conceive; one was unsuccessful. No patients who underwent bowel partial vaginal replacement became pregnant. Women with ARM face many unique challenges in assisted reproduction, pregnancy, and delivery owing to their anatomy and associated anomalies. CONCLUSIONS Women with recto-perineal, recto-vestibular, and cloacas in which the native vagina was pulled through are capable of spontaneous pregnancy. Assisted reproduction, however, may be needed those with more complex anomalies and surgical repairs. LEVEL OF EVIDENCE IV.
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Affiliation(s)
- Marina L Reppucci
- International Center for Colorectal and Urogenital Care, Division of Pediatric Surgery, Children's Hospital Colorado, 13213 E 16th Ave, Box 323, Anschutz Medical Campus, Aurora, CO 80045, USA
| | - Veronica I Alaniz
- International Center for Colorectal and Urogenital Care, Division of Pediatric Surgery, Children's Hospital Colorado, 13213 E 16th Ave, Box 323, Anschutz Medical Campus, Aurora, CO 80045, USA; Section of Pediatric and Adolescent Gynecology, Children's Hospital Colorado, Aurora, CO 80045, USA
| | - Lea A Wehrli
- International Center for Colorectal and Urogenital Care, Division of Pediatric Surgery, Children's Hospital Colorado, 13213 E 16th Ave, Box 323, Anschutz Medical Campus, Aurora, CO 80045, USA
| | - Luis de La Torre
- International Center for Colorectal and Urogenital Care, Division of Pediatric Surgery, Children's Hospital Colorado, 13213 E 16th Ave, Box 323, Anschutz Medical Campus, Aurora, CO 80045, USA
| | - Dan Wood
- International Center for Colorectal and Urogenital Care, Division of Pediatric Surgery, Children's Hospital Colorado, 13213 E 16th Ave, Box 323, Anschutz Medical Campus, Aurora, CO 80045, USA; Department of Pediatric Urology, Children's Hospital Colorado, Aurora, CO 80045, USA
| | - Duncan T Wilcox
- International Center for Colorectal and Urogenital Care, Division of Pediatric Surgery, Children's Hospital Colorado, 13213 E 16th Ave, Box 323, Anschutz Medical Campus, Aurora, CO 80045, USA; Department of Pediatric Urology, Children's Hospital Colorado, Aurora, CO 80045, USA
| | - Leslie C Appiah
- Section of Pediatric and Adolescent Gynecology, Children's Hospital Colorado, Aurora, CO 80045, USA
| | - Alberto Peña
- International Center for Colorectal and Urogenital Care, Division of Pediatric Surgery, Children's Hospital Colorado, 13213 E 16th Ave, Box 323, Anschutz Medical Campus, Aurora, CO 80045, USA
| | - Andrea Bischoff
- International Center for Colorectal and Urogenital Care, Division of Pediatric Surgery, Children's Hospital Colorado, 13213 E 16th Ave, Box 323, Anschutz Medical Campus, Aurora, CO 80045, USA.
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Long-Term Functional Outcomes of an Anorectal Malformation French National Cohort. J Pediatr Gastroenterol Nutr 2022; 74:782-787. [PMID: 35849503 DOI: 10.1097/mpg.0000000000003447] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 12/10/2022]
Abstract
OBJECTIVES The present study aimed to assess long-term functional outcomes of children with anorectal malformations (ARMs) across a network of expert centers in France. METHODS Retrospective cross-sectional study of patients ages 6-30 years that had been surgically treated for ARM. Patient and ARM characteristics (eg, level, surgical approach) and functional outcomes were assessed in the different age groups. RESULTS Among 367 patients, there were 155 females (42.2%) and 212 males (57.8%), 188 (51.2%) cases with, and 179 (48.8%) higher forms without, perineal fistula. Univariate and multivariate statistical analyses with logistic regression showed correlation between the level of the rectal blind pouch and voluntary bowel movements (odds ratio [OR] = 1.84 [1.31-2.57], P < 0.001), or soiling (OR = 1.72 [1.31-2.25], P < 0.001), which was also associated with the inability to discriminate between stool and gas (OR = 2.45 [1.28-4.67], P = 0.007) and the presence of constipation (OR = 2.97 [1.74-5.08], P < 0.001). Risk factors for constipation were sacral abnormalities [OR = 2.26 [1.23-4.25], P = 0.01) and surgical procedures without an abdominal approach (OR = 2.98 [1.29-6.87], P = 0.01). Only the holding of voluntary bowel movements and soiling rates improved with age. CONCLUSION This cross-sectional study confirms a strong association between anatomical status and functional outcomes in patients surgically treated for ARM. It specifically highlights the need for long-term follow-up of all patients to help them with supportive care.
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Kassa AM, Engvall G, Dellenmark Blom M, Engstrand Lilja H. Understanding of the transition to adult healthcare services among individuals with VACTERL association in Sweden: A qualitative study. PLoS One 2022; 17:e0269163. [PMID: 35622841 PMCID: PMC9140225 DOI: 10.1371/journal.pone.0269163] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/29/2021] [Accepted: 05/15/2022] [Indexed: 11/18/2022] Open
Abstract
Current knowledge of transitional care from the perspective of individuals with congenital malformations is scarce. Their viewpoints are required for the development of follow-up programs and transitional care corresponding to patients’ needs. The study aimed to describe expectations, concerns, and experiences in conjunction with transfer to adult health care among adolescents, young adults, and adults with VACTERL association, (i.e. vertebral defects, anorectal malformations (ARM), cardiac defects (CHD), esophageal atresia (EA), renal, and limb abnormalities). Semi-structured telephone interviews were performed and analyzed with qualitative content analysis. Of 47 invited individuals, 22 participated (12 males and 10 females). An overarching theme emerged: Leaving the safe nest of pediatric health care for an unfamiliar and uncertain follow up yet growing in responsibility and appreciating the adult health care. The participants described expectations of qualified adult health care but also concerns about the process and transfer to an unfamiliar setting. Individuals who were transferred described implemented or absence of preparations. Positive and negative experiences of adult health care were recounted including being treated as adults. The informants described increasing involvement in health care but were still supported by their parents. Ongoing follow up of health conditions was recounted but also uncertainty around the continuation, missing follow up and limited knowledge of how to contact health care. The participants recommended information ahead of transfer and expressed wishes for continued health care with regular follow up and accessibility to a contact person. Based on the participants’ perspective, a transitional plan is required including early information about transfer and follow up to prepare the adolescents and reduce uncertainty concerning future health care. Meetings with the pediatric and adult team together with the patient and the parents are essential before transfer. Follow up should be centralized to centers with multi-professional teams well-experienced with the condition. Further studies are warranted to evaluate the transition process for adolescents and young adults with complex congenital health conditions.
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Affiliation(s)
- Ann-Marie Kassa
- Department of Women’s and Children’s Health, Uppsala University, Uppsala, Sweden
- Department of Paediatric Surgery, University Children’s Hospital, Uppsala, Sweden
- * E-mail:
| | - Gunn Engvall
- Department of Women’s and Children’s Health, Uppsala University, Uppsala, Sweden
| | - Michaela Dellenmark Blom
- Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden
- Department of Paediatric Surgery, The Queen Silvia Children’s Hospital SU/Östra, Gothenburg, Sweden
| | - Helene Engstrand Lilja
- Department of Women’s and Children’s Health, Uppsala University, Uppsala, Sweden
- Department of Paediatric Surgery, University Children’s Hospital, Uppsala, Sweden
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Jannot AS, Messiaen C, Khatim A, Pichon T, Sandrin A. The ongoing French BaMaRa-BNDMR cohort: implementation and deployment of a nationwide information system on rare disease. J Am Med Inform Assoc 2022; 29:553-558. [PMID: 34741516 PMCID: PMC8800517 DOI: 10.1093/jamia/ocab237] [Citation(s) in RCA: 8] [Impact Index Per Article: 2.7] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/09/2021] [Revised: 09/20/2021] [Accepted: 10/20/2021] [Indexed: 11/12/2022] Open
Abstract
BACKGROUND BaMaRa allows the secure collection and deidentified centralization of medical data from all patients followed-up in a rare disease expert network in France, based on a minimum data set (SDM-MR). The present article describes BaMaRa information system implementation and development across the whole national territory as well as data access requests through BNDMR, the data warehouse which centralizes all BaMaRa data, during the 2015-2020 period. MATERIALS AND METHODS SDM-MR is made up of 60 interoperable items and is routinely collected through BaMaRa in rare disease centers as part of care and discharged into BNDMR after deidentification and data reconciliation. Data access is regulated by a scientific committee. RESULTS In total, 668 002 affected patients had an SDM-MR recorded in BNDMR by the end of 2020 with a mean value of 3.4 activities per patients. Data access was provided for 66 projects. CONCLUSION The BaMaRa-BNDMR infrastructure provides an administrative and epidemiological resources for rare diseases in France.
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Affiliation(s)
- Anne-Sophie Jannot
- Banque Nationale de Données Maladies Rares, DSI-I&D, APHP, Paris, France
- Université de Paris, Paris, France
- HeKA team, Centre de Recherche des Cordeliers, Sorbonne Université, Inserm, Université de Paris, Paris, France
| | - Claude Messiaen
- Banque Nationale de Données Maladies Rares, DSI-I&D, APHP, Paris, France
| | - Ahlem Khatim
- Banque Nationale de Données Maladies Rares, DSI-I&D, APHP, Paris, France
| | - Thibaut Pichon
- Banque Nationale de Données Maladies Rares, DSI-I&D, APHP, Paris, France
| | - Arnaud Sandrin
- Banque Nationale de Données Maladies Rares, DSI-I&D, APHP, Paris, France
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Abstract
The introduction of posterior sagittal anorectoplasty (PSARP) by deVries and Peña in the early 80s has impacted to the treatment of patients with anorectal malformations (ARM). It gained great recognition worldwide in a very short time, and since then, surgeons dealing with the treatment of this complex malformation could achieve tremendous progress in contemporary management of this anomaly. Despite the growing experience and body of information globally, the treatment of ARMs continues to be a challenge to the pediatric surgeons due to the nature and the variability of the anomaly, and short- and long-term problems continue to exist even after nearly 40 years of the PSARP era. Today, knowing more about it, pediatric surgeons are committed to do more for their ARM patients to have them as physically and socially healthy individuals.
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A survey of adults with anorectal malformations: perspectives on educational, vocational, and psychosocial experiences. Pediatr Surg Int 2019; 35:953-961. [PMID: 31270673 DOI: 10.1007/s00383-019-04508-y] [Citation(s) in RCA: 12] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Accepted: 06/20/2019] [Indexed: 10/26/2022]
Abstract
PURPOSE Despite medical advances, individuals with anorectal malformations (ARM) experience significant medical and psychosocial challenges due to their complex conditions. This study aimed to obtain the perspectives of adults with ARM throughout their lifetime regarding their medical, school/vocational, and psychosocial functioning. METHODS A 40-item survey was administered electronically to members of an international ARM Facebook group (56% response rate; n = 125). Survey items included demographics, medical diagnosis/treatment, school/workplace accommodations, mental health diagnosis/treatment, and life perspectives. RESULTS Majority of respondents were female (73%), aged 25-34 years (31%), Caucasian (92%), US residents (60%), and attended public school (86%). 53% of respondents are currently employed. 32% of respondents received school-based accommodations and 24% at work. 58% of respondents had a mental health diagnosis, with depression (82%) and anxiety (81%) being the most common. CONCLUSIONS Results suggest that adults with ARM experience ongoing difficulties related to schooling, employment, and mental health, in addition to medical complications. It is becoming increasingly clear that improving patients' physical well-being is not enough; psychosocial concerns must also be addressed directly. Thus, it is important for clinicians to be aware of and partner with psychosocial providers to support these challenges associated with ARM, to maximize patients' overall health and well-being.
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van der Bent A, Duggan EM, Fishman LN, Dickie BH. Reality check: What happens when patients with anorectal malformations grow up? A pilot study of medical care transition from the adult patient perspective. J Pediatr Surg 2018; 53:1722-1726. [PMID: 29605261 DOI: 10.1016/j.jpedsurg.2018.02.057] [Citation(s) in RCA: 10] [Impact Index Per Article: 1.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 07/26/2017] [Revised: 01/16/2018] [Accepted: 02/19/2018] [Indexed: 10/17/2022]
Abstract
BACKGROUND There has been an increased focus on transition of pediatric and adolescent patients to adult centered care. For patients with rare and complex conditions, such as anorectal malformations (ARM), difficulties are compounded by the absence of structured transition protocols and lack of adult provider expertise. We sought to explore the actual experiences of adult patients with ARM and distinguish if there are factors that influence the ability to achieve satisfactory transition to adult centered medical care. METHODS Patients older than 18years with ARM were identified through a hospital database and social support networks, and invited to participate in an anonymous questionnaire. Patients were asked to describe their transition experience as well as report their demographics, and functional outcomes (bowel and bladder function). RESULTS Twenty-six surveys were completed. Comparison of those respondents (53%) who had transitioned to adult providers to those that had not yet transferred care demonstrated no difference in satisfaction with bowel and bladder function, presence of ostomy, and education level. There was a slight trend for patients with more complex malformations to seek further medical care with adult providers. Of those who transitioned, 67% reported no discussion prior to their transition and 71% received no recommendations for follow-up providers. CONCLUSIONS This pilot project suggests that a significant number of adult patients with ARM lack transition preparation and fail to find adult providers with expertise. Future studies will need to find optimal ways to address these issues. TYPE OF STUDY Survey. Retrospective Study LEVELS OF EVIDENCE: Level II.
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Affiliation(s)
- Annelotte van der Bent
- Department of Pediatric Gastroenterology, VU University Medical Center, Hemonystraat 64-3, 1074, BT, Amsterdam, The Netherlands.
| | - Eileen M Duggan
- Department of Surgery, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA, 02115, United States,.
| | - Laurie N Fishman
- Department of Gastroenterology & Nutrition, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA, 02115, United States
| | - Belinda Hsi Dickie
- Department of Surgery, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA, 02115, United States,.
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10
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Kyrklund K, Pakarinen MP, Rintala RJ. Long-term bowel function, quality of life and sexual function in patients with anorectal malformations treated during the PSARP era. Semin Pediatr Surg 2017; 26:336-342. [PMID: 29110831 DOI: 10.1053/j.sempedsurg.2017.09.010] [Citation(s) in RCA: 51] [Impact Index Per Article: 6.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/11/2022]
Abstract
Anorectal malformations are an important group of congenital anomalies that vary widely in their anatomical characteristics and complexity. Understanding the long-term functional outcomes after modern treatments, and how these compare to the general population, are essential for ensuring that patients receive optimal, evidence-based care. With increasing appreciation of the wider impact of the illness on patients and their families, minimizing social disability from fecal incontinence and enabling normal social integration from the outset are key management concerns. This review summarizes the current knowledge on the functional outcomes by type of malformation, reflecting on the literature, and our institutional experience over a follow-up period of nearly 30 years.
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Affiliation(s)
- Kristiina Kyrklund
- Department of Pediatric Surgery, Children's Hospital, Helsinki University Central Hospital, P O Box 281, FIN-00029 HUS, Finland
| | - Mikko P Pakarinen
- Department of Pediatric Surgery, Children's Hospital, Helsinki University Central Hospital, P O Box 281, FIN-00029 HUS, Finland
| | - Risto J Rintala
- Department of Pediatric Surgery, Children's Hospital, Helsinki University Central Hospital, P O Box 281, FIN-00029 HUS, Finland.
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Bougie A, McFadden N, Mayer S, Lebel M, Devroede G. Neurostimulation for fecal incontinence after correction of repair of imperforate anus. World J Clin Cases 2017; 5:124-127. [PMID: 28352637 PMCID: PMC5352961 DOI: 10.12998/wjcc.v5.i3.124] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 06/27/2016] [Revised: 10/25/2016] [Accepted: 11/22/2016] [Indexed: 02/05/2023] Open
Abstract
We are reporting the case of a 32-year-old female who had suffered from fecal incontinence (FI). She was born with an imperforate anus and a recto-vaginal fistula; she underwent repair at 6 mo of age. At 29 years of age, she was still fecally incontinent despite extensive pelvic floor reeducation. A magnetic resonance imaging and an anal electromyography were performed. Because her symptoms were considered to be probably due to extra-sphincteric implantation of the neo-anus, a redo was performed of the recto-neo-anal intra-sphincteric anastomosis. A neurostimulator device was subsequently implanted for persistent incontinence. Solid and liquid FI resolved, and her quality of life improved markedly. Combining surgery to correct the position of the neo-anus within the anal sphincter complex and neurostimulation could thus become a new approach in cases of refractory FI for patients with imperforate anus as a newborn. Follow-up into adulthood after pediatric imperforate anus surgery should be recommended for adult patients with persistent FI.
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12
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Danielson J, Karlbom U, Graf W, Wester T. Outcome in adults with anorectal malformations in relation to modern classification - Which patients do we need to follow beyond childhood? J Pediatr Surg 2017; 52:463-468. [PMID: 27894765 DOI: 10.1016/j.jpedsurg.2016.10.051] [Citation(s) in RCA: 40] [Impact Index Per Article: 5.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 01/14/2016] [Revised: 10/03/2016] [Accepted: 10/12/2016] [Indexed: 12/29/2022]
Abstract
BACKGROUND/PURPOSE Knowledge about the functional outcome in adults with anorectal malformations is essential to organize structured transition to adult care for this patient group. The aim of this study was to investigate the functional outcome and quality of life in adults with anorectal malformations characterized according to the Krickenbeck classification. METHODS Of 256 patients diagnosed with anorectal malformations at our institution in 1961-1993, 203 patients could be traced and were invited to participate in the study. One hundred and thirty-six patients replied (67%) and were compared with one hundred and thirty-six population based sex and age-matched controls. Patients and controls were evaluated with both a validated questionnaire as well as a study-specific questionnaire to assess bowel function. SF-36 was used for quality of life. Outcome in nine incontinence-related parameters, 10 constipation-related, 6 urogenital function-related, and 13 quality of life parameters were assessed in the patients and compared to the outcome of controls as well as to the type of anorectal malformations according to the Krickenbeck classification. RESULTS The ARM-patients had an inferior outcome (P<0.05) for all incontinence parameters, 8 of 10 parameters for constipation, 2 of 6 for urogenital function and 7 of 13 quality of life parameters. Patients with rectobulbar and vestibular fistulas had the worst statistical outcome but patients with cloaca and rectoprostatic/bladder-neck fistula had worse outcome in absolute numbers. Forty-four patients (32%) reported incontinence of stool at least once a week and 16 (12%) had a permanent colostomy. CONCLUSIONS The functional outcome and quality of life in adults with anorectal malformations are closely related to the type of malformation. A large proportion of the patients have persistent fecal incontinence, constipation and sexual problems that have a negative influence on their quality of life. Structured multidisciplinary follow-up of adults with anorectal malformations by pediatric and colorectal surgeons, as well as urologists and gynecologists is therefore advocated.
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Affiliation(s)
- Johan Danielson
- Institution of Women's and Children's Health, Uppsala University, Uppsala, Sweden; Department of Pediatric Surgery, Akademiska Sjukhuset Uppsala, Sweden.
| | - Urban Karlbom
- Institution of Surgical Sciences, Uppsala University, Uppsala, Sweden; Department of Surgery, Akademiska Sjukhuset, Uppsala, Sweden
| | - Wilhelm Graf
- Institution of Surgical Sciences, Uppsala University, Uppsala, Sweden; Department of Surgery, Akademiska Sjukhuset, Uppsala, Sweden
| | - Tomas Wester
- Department of Pediatric Surgery, Karolinska University Hospital and Karolinska Institutet, Stockholm, Sweden
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Granström AL, Svenningsson A, Nordenskjöld A, Wester T. Population-based study shows that Hirschsprung disease does not have a negative impact on education and income. Acta Paediatr 2016; 105:1508-1512. [PMID: 27639057 DOI: 10.1111/apa.13594] [Citation(s) in RCA: 9] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 06/22/2016] [Revised: 08/17/2016] [Accepted: 09/14/2016] [Indexed: 12/13/2022]
Abstract
AIM Hirschsprung disease is a multifactorial disease, which is mainly treated during childhood. There is a risk of impaired bowel function for a long time after surgery, and its impact on adult life has not been well studied. This study assessed whether having Hirschsprung disease affected social parameters such as educational level and income. METHODS This nationwide, population-based cohort study included all patients with Hirschsprung disease, registered in the Swedish National Patient Register from 1964 and 2013, who were each matched by age and sex to ten individuals randomly selected from the Swedish Population Register. The study outcomes were the highest educational level and individual disposable income in 2013 registered by Statistics Sweden. RESULTS The study comprised 389 patients and 3847 controls, both 76% male, with a median age of 25 years. There were no statistically significant differences in highest educational level between the groups (p = 0.327). The median individual disposable income was 142 200 (0-817 200) Swedish Krona in the patient group and 159 000 (0-3 418 900) in the control group (p = 0.615). CONCLUSION The highest educational level and the individual disposable income did not differ between patients with Hirschsprung disease and controls, indicating that the disease had a low impact on these parameters.
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Affiliation(s)
- Anna Löf Granström
- Department of Women's and Children's Health; Karolinska Institutet; Stockholm Sweden
- Division of Paediatric Surgery; Astrid Lindgren Children's Hospital; Karolinska University Hospital; Stockholm Sweden
| | - Anna Svenningsson
- Department of Women's and Children's Health; Karolinska Institutet; Stockholm Sweden
- Division of Paediatric Surgery; Astrid Lindgren Children's Hospital; Karolinska University Hospital; Stockholm Sweden
| | - Agneta Nordenskjöld
- Department of Women's and Children's Health; Karolinska Institutet; Stockholm Sweden
- Division of Paediatric Surgery; Astrid Lindgren Children's Hospital; Karolinska University Hospital; Stockholm Sweden
- Center of Molecular Medicine; Karolinska University Hospital; Stockholm Sweden
| | - Tomas Wester
- Department of Women's and Children's Health; Karolinska Institutet; Stockholm Sweden
- Division of Paediatric Surgery; Astrid Lindgren Children's Hospital; Karolinska University Hospital; Stockholm Sweden
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Sexual Function, Fertility and Quality of Life after Modern Treatment of Anorectal Malformations. J Urol 2016; 196:1741-1746. [PMID: 27544626 DOI: 10.1016/j.juro.2016.08.079] [Citation(s) in RCA: 21] [Impact Index Per Article: 2.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 08/11/2016] [Indexed: 11/22/2022]
Abstract
PURPOSE Sexual dysfunction and impaired quality of life due to fecal incontinence are common after classic operations for anorectal malformations. We hypothesized that modern repairs may result in improved outcomes. MATERIALS AND METHODS Following ethical approval for this single institution cross-sectional study, all patients 16 years or older treated for rectourethral, vestibular or perineal fistula from 1983 onward were sent detailed postal questionnaires on sexual function and quality of life. Each respondent was age and gender matched to 3 controls randomly selected from the general population. Penoscrotal/gynecologic abnormalities were obtained from the records. RESULTS A total of 41 patients (62%) with a median age of 22 years participated in the study. Of the patients 20 were males with rectourethral fistula (prostatic in 60%), 10 were females with vestibular/perineal fistula and 11 were males with low malformations. Although experience of sexual relationships and orgasmic function were reported in comparable proportions to controls, age at coital debut was significantly delayed in all groups of patients (p ≤0.046). Erectile function was preserved after sagittal repair but absent ejaculations or azoospermia affected 3 males with rectourethral fistula (15%). Penoscrotal/gynecologic abnormalities affected 12% of patients. Overall quality of life scores were comparable to controls but a trend was found for lower scores on emotional items in males with rectourethral fistula (p = 0.06) and for a negative effect on sexual life in females (p = 0.03). CONCLUSIONS While erectile and orgasmic function appear preserved after sagittal repair, further evaluation of fertility issues in males with rectourethral fistula is indicated. Larger multicenter studies are needed to confirm our findings.
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Abstract
BACKGROUND Anorectal malformations are a spectrum of congenital anomalies of the rectum with high infantile survival rates and variable outcomes. Long-term (>10 years old) active problems associated with this condition have been poorly investigated. OBJECTIVE The purpose of this review was to systematically define the prevalence of the most common active long-term problems in patients with a history of anorectal malformation repair. DATA SOURCES MEDLINE, EMBASE, and the Cochrane Library were searched electronically using the OVID search platform. STUDY SELECTION Original articles from August 1, 1994, to October 20, 2015, that included outcome data for patients aged ≥10 years with anorectal malformation. Cloaca was excluded from the study. INTERVENTIONS Prevalence estimates of anorectal malformations were obtained from published articles. CIs were ascertained in the logit scale after transforming prevalence into log odds and were then transformed into the original scale. The same method was used for subgroup analysis investigating high and low anorectal malformations. MAIN OUTCOME MEASURES The overall prevalences of fecal, urinary, and sexual dysfunction were analyzed. RESULTS Twelve studies including 455 patients with a history of anorectal malformation repair were included for analysis. The range of reported prevalence of long-term active problems was as follows: fecal incontinence, 16.7% to 76.7%; chronic constipation, 22.2% to 86.7%; urinary incontinence, 1.7% to 30.5%; ejaculatory dysfunction, 15.6% to 41.2%; and erectile dysfunction, 5.6% to 11.8%. LIMITATIONS The study was limited by its retrospective, small size; multiple complex associated anomalies often not reported; and heterogeneous composition of patients with limited stratification analysis. CONCLUSIONS There is an overall high prevalence of active long-term issues in adolescents and young adults with anorectal malformations. Additional multicenter research is needed to define characteristics and predictors of long-term outcome, to implement effective follow-up, and to transition to adult health care.
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Kyrklund K, Pakarinen MP, Koivusalo A, Rintala RJ. Long-term bowel functional outcomes in rectourethral fistula treated with PSARP: controlled results after 4-29 years of follow-up: a single-institution, cross-sectional study. J Pediatr Surg 2014; 49:1635-42. [PMID: 25475809 DOI: 10.1016/j.jpedsurg.2014.04.017] [Citation(s) in RCA: 26] [Impact Index Per Article: 2.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/07/2014] [Revised: 03/24/2014] [Accepted: 04/27/2014] [Indexed: 12/29/2022]
Abstract
BACKGROUND/PURPOSE Posterior sagittal anorectoplasty (PSARP) has become the standard surgical treatment for males rectourethral fistula (RUF) at most surgical centers worldwide. We aimed to define the long-term bowel functional outcomes following PSARP for RUF at our institution between 1983 and 2006, with comparison to age- and gender-matched controls. METHODS Patients were invited to answer a detailed, previously validated Bowel Function Score (BFS) questionnaire by post. Respondents were matched by age and gender to three controls from the general population who had answered identical questionnaires. Case records were reviewed retrospectively for operative details. Ethical approval was obtained. Social continence was defined as soiling or fecal accidents <1/week and no requirement for changes of underwear or protective aids. RESULTS Of 34 (79%) respondents (median age 19 (range, 4-29) years), 74% had voluntary bowel movements (VBMs), 24% were reliant on anterograde continence enema (ACE) washouts, and 1 patient had a colostomy. Impairment of bowel function was significantly higher in all aspects of fecal control among patients than controls (p<0.001). A statistically significant decline in fecal accidents and soiling was observed with age (p ≤ 0.03). Thirty-one percent of patients with VBMs had constipation managed with diet or laxatives (vs 2% of controls, p=0.0002). Of patients with VBMs followed up for > 12 years (n=20), 50% were completely continent (vs 73% of controls; p=NS). Overall, 76% of respondents were socially continent with or without artificial means in the form of ACE washouts. By BFS score, 39% had a good functional outcome, 27% had a moderate outcome, 9% had a clearly poor score and 24% were living with an ACE. CONCLUSIONS Our results suggest that in the long-term, functional symptoms remain highly prevalent among patients treated for RUF with PSARP. However, the majority can be expected to achieve social continence, although for some this will require intervention with ACE bowel management. Approximately one third may report VBMs and complete continence.
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Affiliation(s)
- Kristiina Kyrklund
- Department of Pediatric Surgery, Hospital for Children and Adolescents, University of Helsinki, Helsinki, Finland.
| | - Mikko P Pakarinen
- Department of Pediatric Surgery, Hospital for Children and Adolescents, University of Helsinki, Helsinki, Finland
| | - Antti Koivusalo
- Department of Pediatric Surgery, Hospital for Children and Adolescents, University of Helsinki, Helsinki, Finland
| | - Risto J Rintala
- Department of Pediatric Surgery, Hospital for Children and Adolescents, University of Helsinki, Helsinki, Finland
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Huibregtse ECP, Draaisma JMT, Hofmeester MJ, Kluivers K, van Rooij IALM, de Blaauw I. The influence of anorectal malformations on fertility: a systematic review. Pediatr Surg Int 2014; 30:773-81. [PMID: 24969818 DOI: 10.1007/s00383-014-3535-5] [Citation(s) in RCA: 15] [Impact Index Per Article: 1.4] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Accepted: 06/18/2014] [Indexed: 12/20/2022]
Abstract
PURPOSE This systematic review aims to give an overview of available evidence concerning the influence of anorectal malformations (ARM) on fertility. METHODS We conducted a search in PubMed, EMBASE and Cochrane Library conformed to the PRISMA standards. All studies reporting on fertility and ARM were included. RESULTS 2,905 studies were identified. Based on title, abstract and full text, nine articles on 429 patients remained to answer the research question. Childbirth rate was the only reported outcome parameter to describe fertility. An overall childbirth rate of 27 % (range 0-57 %) was found. Mean age at time of study ranged from 23 to 35 years. There was no statistical significant difference in childbirth rate between female and male patients, based on seven studies (p = 0.45). Patients with a more complex type of ARM (imperforated anus without fistula, rectourethral bulbar and prostatic fistulas, rectobladderneck fistulas and cloacal malformations) had a lower childbirth rate compared to healthy controls, whereas in patients with a less complex ARM (rectoperineal or rectovestibular fistula) the childbirth rate was similar to healthy controls. Patients with a more complex type of ARM had a significant lower childbirth rate than patients with a less complex type of ARM (18 vs 47 %, respectively) (p = 0.0001). When further dividing these patients by gender, this difference was only seen in female patients (p = 0.04). CONCLUSION In patients with a more complex type of ARM a lower childbirth rate was found compared to healthy controls and patients with a less complex type of ARM. The latter was only seen in female patients. However, conclusions concerning fertility in ARM patients have to be taken with caution due to limited quality of the studies. Further investigation is recommended.
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Affiliation(s)
- E C P Huibregtse
- Department of Pediatric Surgery, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA, Nijmegen, The Netherlands
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Cretolle C, Rousseau V, Lottmann H, Irtan S, Lortat-Jacob S, Alova I, Michel JL, Aigrain Y, Podevin G, Lehur PA, Sarnacki S. [Anorectal malformations]. Arch Pediatr 2013; 20 Suppl 1:S19-27. [PMID: 23992833 DOI: 10.1016/s0929-693x(13)71405-2] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/27/2022]
Abstract
Anorectal malformations (ARM) are the result of an abnormal development of the terminal part of the digestive tract interesting anus and/or rectum that occur early between the sixth and tenth week of embryonic development. They carry a malformation spectrum of severity depending on the level of disruption of the anorectal canal and of the associated caudal malformations (sacrum and spine). ARM are associated in over half the cases with other malformations that can be integrated in some cases in known syndromes. If surgical treatment to restore anatomy as normal as possible is indispensable, post-operative care is essential for these patients whose defecation mechanisms are altered, to reach if not continence, at least a socially acceptable cleanliness.
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Affiliation(s)
- C Cretolle
- Service de Chirurgie pédiatrique, CRMR Malformations ano-rectales et pelviennes rares (MAREP), Hôpital Necker Enfants Malades, Université Paris Descartes, 149 rue de Sèvres, 75015 Paris, France
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