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Functional outcome and quality of life in anorectal malformations
Journal of Pediatric Surgery (2006) 41, 318 – 322
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Functional outcome and quality of life in anorectal malformations Anju Goyala, Janice M. Williamsa, Simon E. Kennya, Rebecca Lwinb, Colin T. Bailliea,*, Graham L. Lamonta, Richard R. Turnocka a
Department of Paediatric Surgery, Royal Liverpool Children’s Hospital NHS Trust, L12 2AP Liverpool, UK Department of Child Psychology, Royal Liverpool Children’s Hospital NHS Trust, L12 2AP Liverpool, UK
b
Index words: Anorectal malformations; Functional outcome; Quality of life; Posterior sagittal anorectoplasty
Abstract Background/Purpose: The aim of this study was to assess the early functional outcome and quality of life (QOL) in children with anorectal malformations. Methods: Children treated for anorectal malformations (ARMs) from 1994 to 2000 were evaluated if 4 years or older. Primary outcome measures were bowel function score, assessed by functional outcome questionnaire, and QOL using the Pediatric Quality of Life Inventory (PedsQL 4). The secondary outcome measure was age at potty training. Twenty healthy children were used as controls for functional outcome and age at potty training. Data are reported as mean (SD) unless otherwise stated. Results: Eighty children were evaluated during the study period. The mean age at follow-up was 82 months (18.7). The response rate was 76.3% (58/76) for bowel function and 77.5% (62/80) for QOL questionnaires. Functional outcome score (maximum 20) decreased significantly with increasing severity of the ARM (male perineal fistula, 16 [3]; female perineal fistula, 15 [3]; rectourethral fistula, 12 [4]; vestibular fistula, 13 [3.5]; bladder neck fistula, 6 [2]; analysis of variance, P = .001). However, there was no difference in QOL between patients with ARM and controls. There was no correlation between age and either bowel function score (Pearson r 2 = 0.06) or QOL (Pearson r 2 = 0.12). Affected children took significantly longer to achieve potty training for bladder (35 [13.8] months vs 26 [8.7] months for controls [t test, P = .005]) and bowels (38 [16] months vs 25 [7] months [t test, P = .001]). Conclusion: Children with ARMs have significantly worse bowel function than their peers, depending on the type of lesion. Despite these findings, QOL was not significantly impaired. No correlation was demonstrated between age and either functional outcome or QOL. D 2006 Elsevier Inc. All rights reserved.
Anorectal malformations are common congenital anomalies with an incidence of 1 in 4000. There is signifPresented at the 52nd Annual Congress of British Association of Paediatric Surgeons, Dublin, Ireland, July 12-15, 2005. * Corresponding author. Tel.: +44 0 1512525750; fax: + 44 0 1512525677. E-mail address: [email protected] (C.T. Baillie). 0022-3468/$ – see front matter D 2006 Elsevier Inc. All rights reserved. doi:10.1016/j.jpedsurg.2005.11.006
icant morbidity related to faecal incontinence after surgical correction. The effect of this on the child’s quality of life (QOL) has received relatively little attention in the surgical literature. The evaluation of functional outcome is hampered both by the lack of a universally accepted scoring system for faecal continence [1] and variations in classification of the type of anorectal malformation (ARM). The widely adopted descriptive classification of Pena [2]
Functional outcome and QOL in anorectal malformations
based on the presence and anatomic location of the associated fistula allows for a pragmatic approach to the management of children with ARM. This classification has the great virtue of simplicity and, with increasing use, should allow for better comparisons of functional outcome and QOL. The last 2 decades have witnessed huge changes in the management of children with ARMs. It seems reasonable to propose that the near universal adoption of posterior sagittal anorectoplasty (PSARP) [3] as the standard operative approach and the simultaneous widespread application of bbowel management strategiesQ have together improved social continence in affected children. In common with other paediatric surgical centres, the last 2 decades have led to surgical subspecialisation, the emergence of specialist nursing support, the availability of new investigative modalities, and the development of a dedicated clinic for children with this condition. We have been using this holistic approach since 1994. The aim of this study was to assess the functional outcome and QOL of children diagnosed with ARMs since then and to correlate both with the type of anomaly.
1. Methods All children presenting to the Royal Liverpool Children’s Hospital (Alder Hey) with a diagnosis of ARM between January 1994 and December 2000 were included in the study. Data were collected retrospectively concerning type of the ARM, associated conditions, investigations, initial and definitive operative management, surgical morbidity, and requirement for further medical or operative interventions. Posterior sagittal anorectoplasty with preliminary covering colostomy was performed in most children, reserving limited primary PSARP, or anoplasty for children with perineal fistulae. Approximately 3 weeks after definitive surgery, children were examined under anaesthetic and the parents taught anal dilatation. This was continued on a daily basis to achieve a neoanus of calibre 13F to 14 F. At this point, the colostomy could be closed. The adoption of surgical subspecialization during the study period resulted in all definitive surgical procedures being performed by 3 surgeons from a staff of 6. The functional outcome and the QOL of this cohort of children were prospectively evaluated. Twenty healthy children (median age, 10.1 years; range, 4.5-14.8 years) were used as controls for functional scoring and age at potty training data. The primary outcome measures were functional and QOL scores calculated using a functional outcome questionnaire [4] and the PedsQL 4 Quality of Life Inventory [5]. The functional outcome questionnaire used a multivariate scoring system assessing control of defaecation, frequency of emptying, soiling, accidents, constipation, and any
319
associated social stigma. A maximum score of 20 would indicate the ideal functional outcome. The PedsQL 4 inventory was used to test health-related QOL in children using multidimensional child self-reporting and parent proxy reporting for 23 parameters applicable to healthy children and those with acute and chronic health conditions. It assessed both physical health (8 items) and psychosocial health, including emotional, social, and school performance (5 items each). The patient scores (maximum of 100) were compared with age-matched control data available in the literature [5]. The children and their parents were approached at their anorectal clinic appointment by an independent researcher and were recruited in the study after informed consent. Those children who were older than 4 years were asked to fill in the functional outcome questionnaire and the QOL inventory. Those patients who could not be contacted personally were sent the questionnaire by post. Secondary outcome measures were the age at which parents considered their child potty-trained both for urinary and bowel actions. Potty training was defined as child being aware of their bladder and bowel action and able to manage it without aid of nappies during the day and night. Data were stored and analysed using SPSS version 12.0.1 (SPSS Inc, Chicago, Ill) and GraphPad Prism version 4.02 (GraphPad Software, San Diego, Calif). Data are expressed as mean (SD) unless otherwise stated. Analysis of variance was used to correlate the functional outcome score (FOS) and PedsQL score with the type of anorectal lesion. Pearson rank coefficient was used to assess relation of age with FOS and PedsQL score. Student’s t test was used to compare the age at potty training, FOS and PedsQL score between patients and controls. The study was approved by the Local Research Ethics Committee, and informed consent (and assent if appropriate) was obtained both from children and their parents.
2. Results A total of 85 children (52 male and 33 female) with ARM were treated during the study period. The distribu-
Table 1 Anorectal malformations are subclassified according to sex and lesion type Perineal lesions Rectourethral fistula Bladder neck fistula Vestibular fistula Vaginal fistula Cloaca Cloacal exstrophy Others
Male
Female
23 22 4 0 0 0 2 1
17 0 0 11 1 3 1 0
320
tion of lesions is shown in Table 1. Twenty-four children with a perineal fistula underwent primary anoplasty or limited PSARP. In 3 children, a simultaneous covering colostomy was performed at the surgeon’s discretion. Primary anoplasty without colostomy was performed in 11 children, and a limited PSARP without colostomy in 10 children. Fourteen children with a perineal fistula had staged surgery, with definitive surgery preceded by colostomy. In 58 children, including 14 with a perineal fistula, a staged approach was adopted in which an initial stoma was fashioned, followed by definitive surgery 2 to 3 months later. Fifty-one children subsequently underwent PSARP, and 4 underwent posterior sagittal anorectovaginourethroplasty. Three children died after colostomy without having undergone definitive surgery. Furthermore, 2 children died before any intervention, and a further child with anterior anus is asymptomatic without surgical intervention. Taken together, 80 of the original 85 children were available for outcome review. Stoma-related complications occurred in 7 of 61 children (prolapse in 4 and stenosis/retraction in 3). Minor revision anoplasty for stenosis was required in 19 children, with a single child needing anorectal mucosectomy for prolapse. Major revisional surgery (maximum follow-up, 10 years) has included 7 formal redo-PSARP procedures (8.8%). Of these 7 children, 2 currently have had a colostomy reformed and a single child has bowel management facilitated by antegrade colonic enema. Two further children have had defunctioning colostomies without major revisional surgery. Overall, some form of revisional surgery was required in 29/80 (29/80). Seventy-six children were thus eligible for evaluation of functional outcome (3 children have a permanent stoma and 1, an antegrade colonic enema stoma and, therefore, did not complete the bowel function questionnaire). The response rate was 76.3% (58/76) for bowel function and 77.5% (62/80) for QOL questionnaires. At the time of evaluation, the age range for the 62 responding children was 4.1 to 10.3 years (median, 6.7 years).
A. Goyal et al.
Fig. 1 Comparison of (A) functional outcome score and (B) PedsQL score with controls. Column height equals mean and error bar represents standard deviation.
P = .005) and for bowel evacuations (38 [16.0] months vs 25 [7.0] months; P = .001).
4. Quality of life The PedsQL score for males was 82.5 (14.2) and 84.5 (13.9) for females. There were no significant differences in PedsQL scores in relation to lesion type (male perineal, 82.6 [14.5]; female perineal, 80.7 [13.3]; rectourethral 82.8, [14.3]; bladder neck, 79.5 [17.2]; vestibular, 91.6 [5.6]) ( P = .39). Overall, there was no difference in PedsQL scores between patients with ARM and age-matched controls (Fig. 1B).
3. Functional outcome The mean FOS was 13.7 (4.3) in males and 14 (3.1) in females. Functional outcome scores were progressively worse with increasing severity of the ARM (16 [3] in male perineal lesions, 15 [3] in female perineal, 12 [4] in rectourethral, 6 [2] in bladder neck lesions and 13 [3.5] in vestibular lesions [ P = .001]). There was no correlation between age and FOS (Pearson r 2 = 0.06) or QOL (Pearson r 2 = 0.12). Overall, children with ARM after PSARP had significantly poorer functional outcome than their peer control group (Fig. 1A). Children with ARMs took significantly longer to achieve potty training for micturition (35 [13.8] months) than control children (26 [8.7] months;
5. Discussion Anorectal malformations are associated with significant morbidity because of problems with faecal continence after surgical correction. The earliest correction of ARM by an abdominoperineal approach was by Rhoads [6] in 1948. Studies by Stephens [7] added considerably to the understanding of the anatomy of these malformations, and the surgical procedure was modified to an abdominosacroperineal approach in 1953. The modern approach to ARM was heralded by the description of PSARP in 1982 [3]. Traditional descriptions according to the Wingspread
Functional outcome and QOL in anorectal malformations
classification have been largely superseded by the classification of Pena [2], which should allow more meaningful comparison of outcome data. This study provides contemporary data on both early functional and QOL outcomes in children with ARMs. The evaluation of functional outcome after operative repair of ARM has been severely compromised by confusion over classification and the lack of a universally accepted method of assessing continence. Various scores including those of Kelly [8], Templeton and Ditesheim [9], Kiesewetter and Chang [10], Holschneider [11], and Wingspread [12] have been used. The Kelly score requires a digital examination, whereas the Holschneider scores requires anorectal manometry. We used the multivariate scoring method described by Rintala et al [4], which incorporates elements of voluntary control, sensation, stool frequency, soiling, constipation, and the social impact of incontinence. In this study, FOSs in children with treated ARM were significantly worse than those of normal children, and the degree of functional impairment correlated well with the severity of ARM. Although mean FOSs were relatively good in perineal and anovestibular fistulae, this was not universal, emphasizing the need for vigilant follow-up to prevent the problem of constipation-induced megarectum [13]. Functional outcome was always poor in children with bladder neck fistulae. Although some studies suggest that continence improves with age [9,14], this may reflect more sophisticated coping strategies. The children in this report showed no functional improvement with increasing age at this early stage. But it must be emphasized that the maximum age of our study population is 10 years, and as none had yet reached adolescence, no firm conclusion could be drawn. The age at potty training for both bladder and bowel in children with ARM is significantly older compared with controls. This has implications for nursery and school placement even in those with expected good functional outcome. It seems self-evident that impairment of faecal continence should have a major negative impact on the QOL. This observation has been confirmed by the few existing paediatric QOL studies [15,16]. Many factors influence QOL including physical and mental health, psychosocial adjustment, family and peer group support, socioeconomic status, and educational achievement. The evaluation of the individual contribution of these often interrelated factors is complex. A variety of QOL assessment tools have been described and applied to children with chronic health problems. Some studies have inferred poor QOL from social or sexual problems related to impaired continence [17], whereas others have adapted the medical outcome study to their patient population [18], or used a self-designed QOL tool to compare subgroups within their patient populations [15]. These studies suffer from a lack of control data. Others have used validated tools to assess behavioural characteristics including the Teacher Report Form [19] and the Child Behaviour Checklist [19,16]. A further problem of generic
321
health-related QOL tools is the need to adapt them to different age ranges within the study population. One such study concluded QOL to be severely impaired in the youngest ARM children, whereas older children showed improved QOL, and adults showed little difference from the normal population. Three different tools (TAIQOL [TNO-AZL Infants Quality of Life], TACQOL [TNO-AZL Children’s Quality of Life], and Short Form 36) were used in this study [20]. The PedsQL score has been widely used for children with a variety of chronic medical health problems. It assesses both physical health (8 items) and psychosocial health, including emotional, social, and school performance (5 items each). The current study demonstrated no correlation between QOL and FOS in children younger than 10 years. Although seemingly implausible, it is entirely reasonable to assume that the QOL, as measured by these items, is actually unaltered by faecal incontinence especially at young age. Ditesheim and Templeton [15] also found that before 10 years of age the QOL is not adversely affected by faecal continence score. They suggested that this was because of strong parental support. However, on reaching adolescence, faecal continence became the major determinant of QOL. It must be said that use of PedsQL has not been validated in QOL evaluation in surgical conditions including children with ARM. It is possible that standard QOL assessment tools are not adequate to pick up subtle problems in this group of patients. For this reason, a disease-specific paediatric QOL inventory has been designed for children with ARM but has not been widely tested [21]. Hassink et al [18] demonstrated that children with ARM have difficulty in forming relationships and achieve lower educational levels. The same group also demonstrated increased levels of stress in parents of incontinent older children but did not show poor behaviour in the children themselves [19]. One study of adults with treated ARM suggested that disease-specific factors such as constipation and faecal incontinence had almost no effect on QOL, compared with psychosocial functioning [22]. Further studies are required to evaluate the role of faecal continence on the QOL in children and young adults with ARMs. We intend to follow this geographically welldefined cohort through adolescence into adult life. It is to be hoped that the sensible application of effective bowel management strategies will improve the QOL in children with impaired faecal continence owing to ARM.
6. Conclusion Children with ARMs have significantly worse bowel function compared with their peers. The degree of functional impairment correlates with the severity of the ARM. Potty training for both bladder and bowel is delayed in
322 children with ARMs. Despite these findings, there appears to be little effect on QOL up to 10 years of age, and functional outcome did not improve with age.
References [1] Holschneider AM, Jesch NK, Stragholz E, et al. Surgical methods for anorectal malformations from Rehbein to Pena—critical assessment of score systems and proposal for a new classification. Eur J Pediatr Surg 2002;12:73 - 82. [2] Pena A. Anorectal malformations. Semin Pediatr Surg 1995;4:35 - 47. [3] deVries PA, Pena A. Posterior sagittal anorectoplasty. J Pediatr Surg 1982;17:638 - 43. [4] Rintala RJ, Lindahl H. Is normal bowel function possible after repair of intermediate and high anorectal malformations? J Pediatr Surg 1995;30:491 - 4. [5] Varni JW, Burwinkle TM, Seid M, et al. The PedsQL 4.0 as a pediatric population health measure: feasibility, reliability, and validity. Ambul Pediatr 2003;3:329 - 41. [6] Rhoads JE, Piper RL, Randall JP. A simultaneous abdominal and perineal approach in operations for imperforate anus with atresia of the rectum and recto-sigmoid. Ann Surg 1948;127:552 - 6. [7] Stephens FD. Imperforate rectum. A new surgical technique. Med J Aust 1953;1:202. [8] Kelly JH. The clinical and radiological assessment of anal continence in childhood. Aust N Z J Surg 1972;42:62 - 3. [9] Templeton Jr JM, Ditesheim JA. High imperforate anus—quantitative results of long-term fecal continence. J Pediatr Surg 1985;20: 645 - 52. [10] Kiesewetter WB, Chang JHT. Imperforate anus: a five to thirty year follow up perspective. Prog Pediatr Surg 1977;10:111 - 20. [11] Holschneider AM. Treatment and functional results of anorectal continence in children with imperforate anus. Acta Chir Belg 1983;83:191 - 204.
A. Goyal et al. [12] Stephens FD, Smith ED. Classification identification and assessment of surgical treatment of anorectal anomalies: report of a workshop meeting. Wisconsin7 Rocine; 1984. [13] Rintala RJ, Lindahl HG, Rasanen M. Do children with repaired low anorectal malformations have normal bowel function? J Pediatr Surg 1997;32:823 - 6. [14] Rintala RJ, Lindahl HG. Fecal continence in patients having undergone posterior sagittal anorectoplasty procedure for a high anorectal malformation improves at adolescence, as constipation disappears. J Pediatr Surg 2001;36:1218 - 21. [15] Ditesheim JA, Templeton Jr JM. Short-term v long-term quality of life in children following repair of high imperforate anus. J Pediatr Surg 1987;22:581 - 7. [16] Bai Y, Yuan Z, Wang W, et al. Quality of life for children with fecal incontinence after surgically corrected anorectal malformation. J Pediatr Surg 2000;35:462 - 4. [17] Rintala R, Mildh L, Lindahl H. Fecal continence and quality of life for adult patients with an operated high or intermediate anorectal malformation. J Pediatr Surg 1994;29:777 - 80. [18] Hassink EA, Rieu PN, Brugman AT, et al. Quality of life after operatively corrected high anorectal malformation: a long-term followup study of patients aged 18 years and older. J Pediatr Surg 1994;29: 773 - 6. [19] Hassink EA, Brugman-Boezeman AT, Robbroeckx LM, et al. Parenting children with anorectal malformations: implications and experiences. Pediatr Surg Int 1998;13:377 - 83. [20] Poley MJ, Stolk EA, Tibboel D, et al. Short term and long term health related quality of life after congenital anorectal malformations and congenital diaphragmatic hernia. Arch Dis Child 2004;89:836 - 41. [21] Hanneman MJ, Sprangers MA, De Mik EL, et al. Quality of life in patients with anorectal malformation or Hirschsprung’s disease: development of a disease-specific questionnaire. Dis Colon Rectum 2001;44:1650 - 60. [22] Hartman EE, Oort FJ, Aronson DC, et al. Critical factors affecting quality of life of adult patients with anorectal malformations or Hirschsprung’s disease. Am J Gastroenterol 2004;99:907 - 13.
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Functional outcome and quality of life in anorectal malformations Anju Goyala, Janice M. Williamsa, Simon E. Kennya, Rebecca Lwinb, Colin T. Bailliea,*, Graham L. Lamonta, Richard R. Turnocka a
Department of Paediatric Surgery, Royal Liverpool Children’s Hospital NHS Trust, L12 2AP Liverpool, UK Department of Child Psychology, Royal Liverpool Children’s Hospital NHS Trust, L12 2AP Liverpool, UK
b
Index words: Anorectal malformations; Functional outcome; Quality of life; Posterior sagittal anorectoplasty
Abstract Background/Purpose: The aim of this study was to assess the early functional outcome and quality of life (QOL) in children with anorectal malformations. Methods: Children treated for anorectal malformations (ARMs) from 1994 to 2000 were evaluated if 4 years or older. Primary outcome measures were bowel function score, assessed by functional outcome questionnaire, and QOL using the Pediatric Quality of Life Inventory (PedsQL 4). The secondary outcome measure was age at potty training. Twenty healthy children were used as controls for functional outcome and age at potty training. Data are reported as mean (SD) unless otherwise stated. Results: Eighty children were evaluated during the study period. The mean age at follow-up was 82 months (18.7). The response rate was 76.3% (58/76) for bowel function and 77.5% (62/80) for QOL questionnaires. Functional outcome score (maximum 20) decreased significantly with increasing severity of the ARM (male perineal fistula, 16 [3]; female perineal fistula, 15 [3]; rectourethral fistula, 12 [4]; vestibular fistula, 13 [3.5]; bladder neck fistula, 6 [2]; analysis of variance, P = .001). However, there was no difference in QOL between patients with ARM and controls. There was no correlation between age and either bowel function score (Pearson r 2 = 0.06) or QOL (Pearson r 2 = 0.12). Affected children took significantly longer to achieve potty training for bladder (35 [13.8] months vs 26 [8.7] months for controls [t test, P = .005]) and bowels (38 [16] months vs 25 [7] months [t test, P = .001]). Conclusion: Children with ARMs have significantly worse bowel function than their peers, depending on the type of lesion. Despite these findings, QOL was not significantly impaired. No correlation was demonstrated between age and either functional outcome or QOL. D 2006 Elsevier Inc. All rights reserved.
Anorectal malformations are common congenital anomalies with an incidence of 1 in 4000. There is signifPresented at the 52nd Annual Congress of British Association of Paediatric Surgeons, Dublin, Ireland, July 12-15, 2005. * Corresponding author. Tel.: +44 0 1512525750; fax: + 44 0 1512525677. E-mail address: [email protected] (C.T. Baillie). 0022-3468/$ – see front matter D 2006 Elsevier Inc. All rights reserved. doi:10.1016/j.jpedsurg.2005.11.006
icant morbidity related to faecal incontinence after surgical correction. The effect of this on the child’s quality of life (QOL) has received relatively little attention in the surgical literature. The evaluation of functional outcome is hampered both by the lack of a universally accepted scoring system for faecal continence [1] and variations in classification of the type of anorectal malformation (ARM). The widely adopted descriptive classification of Pena [2]
Functional outcome and QOL in anorectal malformations
based on the presence and anatomic location of the associated fistula allows for a pragmatic approach to the management of children with ARM. This classification has the great virtue of simplicity and, with increasing use, should allow for better comparisons of functional outcome and QOL. The last 2 decades have witnessed huge changes in the management of children with ARMs. It seems reasonable to propose that the near universal adoption of posterior sagittal anorectoplasty (PSARP) [3] as the standard operative approach and the simultaneous widespread application of bbowel management strategiesQ have together improved social continence in affected children. In common with other paediatric surgical centres, the last 2 decades have led to surgical subspecialisation, the emergence of specialist nursing support, the availability of new investigative modalities, and the development of a dedicated clinic for children with this condition. We have been using this holistic approach since 1994. The aim of this study was to assess the functional outcome and QOL of children diagnosed with ARMs since then and to correlate both with the type of anomaly.
1. Methods All children presenting to the Royal Liverpool Children’s Hospital (Alder Hey) with a diagnosis of ARM between January 1994 and December 2000 were included in the study. Data were collected retrospectively concerning type of the ARM, associated conditions, investigations, initial and definitive operative management, surgical morbidity, and requirement for further medical or operative interventions. Posterior sagittal anorectoplasty with preliminary covering colostomy was performed in most children, reserving limited primary PSARP, or anoplasty for children with perineal fistulae. Approximately 3 weeks after definitive surgery, children were examined under anaesthetic and the parents taught anal dilatation. This was continued on a daily basis to achieve a neoanus of calibre 13F to 14 F. At this point, the colostomy could be closed. The adoption of surgical subspecialization during the study period resulted in all definitive surgical procedures being performed by 3 surgeons from a staff of 6. The functional outcome and the QOL of this cohort of children were prospectively evaluated. Twenty healthy children (median age, 10.1 years; range, 4.5-14.8 years) were used as controls for functional scoring and age at potty training data. The primary outcome measures were functional and QOL scores calculated using a functional outcome questionnaire [4] and the PedsQL 4 Quality of Life Inventory [5]. The functional outcome questionnaire used a multivariate scoring system assessing control of defaecation, frequency of emptying, soiling, accidents, constipation, and any
319
associated social stigma. A maximum score of 20 would indicate the ideal functional outcome. The PedsQL 4 inventory was used to test health-related QOL in children using multidimensional child self-reporting and parent proxy reporting for 23 parameters applicable to healthy children and those with acute and chronic health conditions. It assessed both physical health (8 items) and psychosocial health, including emotional, social, and school performance (5 items each). The patient scores (maximum of 100) were compared with age-matched control data available in the literature [5]. The children and their parents were approached at their anorectal clinic appointment by an independent researcher and were recruited in the study after informed consent. Those children who were older than 4 years were asked to fill in the functional outcome questionnaire and the QOL inventory. Those patients who could not be contacted personally were sent the questionnaire by post. Secondary outcome measures were the age at which parents considered their child potty-trained both for urinary and bowel actions. Potty training was defined as child being aware of their bladder and bowel action and able to manage it without aid of nappies during the day and night. Data were stored and analysed using SPSS version 12.0.1 (SPSS Inc, Chicago, Ill) and GraphPad Prism version 4.02 (GraphPad Software, San Diego, Calif). Data are expressed as mean (SD) unless otherwise stated. Analysis of variance was used to correlate the functional outcome score (FOS) and PedsQL score with the type of anorectal lesion. Pearson rank coefficient was used to assess relation of age with FOS and PedsQL score. Student’s t test was used to compare the age at potty training, FOS and PedsQL score between patients and controls. The study was approved by the Local Research Ethics Committee, and informed consent (and assent if appropriate) was obtained both from children and their parents.
2. Results A total of 85 children (52 male and 33 female) with ARM were treated during the study period. The distribu-
Table 1 Anorectal malformations are subclassified according to sex and lesion type Perineal lesions Rectourethral fistula Bladder neck fistula Vestibular fistula Vaginal fistula Cloaca Cloacal exstrophy Others
Male
Female
23 22 4 0 0 0 2 1
17 0 0 11 1 3 1 0
320
tion of lesions is shown in Table 1. Twenty-four children with a perineal fistula underwent primary anoplasty or limited PSARP. In 3 children, a simultaneous covering colostomy was performed at the surgeon’s discretion. Primary anoplasty without colostomy was performed in 11 children, and a limited PSARP without colostomy in 10 children. Fourteen children with a perineal fistula had staged surgery, with definitive surgery preceded by colostomy. In 58 children, including 14 with a perineal fistula, a staged approach was adopted in which an initial stoma was fashioned, followed by definitive surgery 2 to 3 months later. Fifty-one children subsequently underwent PSARP, and 4 underwent posterior sagittal anorectovaginourethroplasty. Three children died after colostomy without having undergone definitive surgery. Furthermore, 2 children died before any intervention, and a further child with anterior anus is asymptomatic without surgical intervention. Taken together, 80 of the original 85 children were available for outcome review. Stoma-related complications occurred in 7 of 61 children (prolapse in 4 and stenosis/retraction in 3). Minor revision anoplasty for stenosis was required in 19 children, with a single child needing anorectal mucosectomy for prolapse. Major revisional surgery (maximum follow-up, 10 years) has included 7 formal redo-PSARP procedures (8.8%). Of these 7 children, 2 currently have had a colostomy reformed and a single child has bowel management facilitated by antegrade colonic enema. Two further children have had defunctioning colostomies without major revisional surgery. Overall, some form of revisional surgery was required in 29/80 (29/80). Seventy-six children were thus eligible for evaluation of functional outcome (3 children have a permanent stoma and 1, an antegrade colonic enema stoma and, therefore, did not complete the bowel function questionnaire). The response rate was 76.3% (58/76) for bowel function and 77.5% (62/80) for QOL questionnaires. At the time of evaluation, the age range for the 62 responding children was 4.1 to 10.3 years (median, 6.7 years).
A. Goyal et al.
Fig. 1 Comparison of (A) functional outcome score and (B) PedsQL score with controls. Column height equals mean and error bar represents standard deviation.
P = .005) and for bowel evacuations (38 [16.0] months vs 25 [7.0] months; P = .001).
4. Quality of life The PedsQL score for males was 82.5 (14.2) and 84.5 (13.9) for females. There were no significant differences in PedsQL scores in relation to lesion type (male perineal, 82.6 [14.5]; female perineal, 80.7 [13.3]; rectourethral 82.8, [14.3]; bladder neck, 79.5 [17.2]; vestibular, 91.6 [5.6]) ( P = .39). Overall, there was no difference in PedsQL scores between patients with ARM and age-matched controls (Fig. 1B).
3. Functional outcome The mean FOS was 13.7 (4.3) in males and 14 (3.1) in females. Functional outcome scores were progressively worse with increasing severity of the ARM (16 [3] in male perineal lesions, 15 [3] in female perineal, 12 [4] in rectourethral, 6 [2] in bladder neck lesions and 13 [3.5] in vestibular lesions [ P = .001]). There was no correlation between age and FOS (Pearson r 2 = 0.06) or QOL (Pearson r 2 = 0.12). Overall, children with ARM after PSARP had significantly poorer functional outcome than their peer control group (Fig. 1A). Children with ARMs took significantly longer to achieve potty training for micturition (35 [13.8] months) than control children (26 [8.7] months;
5. Discussion Anorectal malformations are associated with significant morbidity because of problems with faecal continence after surgical correction. The earliest correction of ARM by an abdominoperineal approach was by Rhoads [6] in 1948. Studies by Stephens [7] added considerably to the understanding of the anatomy of these malformations, and the surgical procedure was modified to an abdominosacroperineal approach in 1953. The modern approach to ARM was heralded by the description of PSARP in 1982 [3]. Traditional descriptions according to the Wingspread
Functional outcome and QOL in anorectal malformations
classification have been largely superseded by the classification of Pena [2], which should allow more meaningful comparison of outcome data. This study provides contemporary data on both early functional and QOL outcomes in children with ARMs. The evaluation of functional outcome after operative repair of ARM has been severely compromised by confusion over classification and the lack of a universally accepted method of assessing continence. Various scores including those of Kelly [8], Templeton and Ditesheim [9], Kiesewetter and Chang [10], Holschneider [11], and Wingspread [12] have been used. The Kelly score requires a digital examination, whereas the Holschneider scores requires anorectal manometry. We used the multivariate scoring method described by Rintala et al [4], which incorporates elements of voluntary control, sensation, stool frequency, soiling, constipation, and the social impact of incontinence. In this study, FOSs in children with treated ARM were significantly worse than those of normal children, and the degree of functional impairment correlated well with the severity of ARM. Although mean FOSs were relatively good in perineal and anovestibular fistulae, this was not universal, emphasizing the need for vigilant follow-up to prevent the problem of constipation-induced megarectum [13]. Functional outcome was always poor in children with bladder neck fistulae. Although some studies suggest that continence improves with age [9,14], this may reflect more sophisticated coping strategies. The children in this report showed no functional improvement with increasing age at this early stage. But it must be emphasized that the maximum age of our study population is 10 years, and as none had yet reached adolescence, no firm conclusion could be drawn. The age at potty training for both bladder and bowel in children with ARM is significantly older compared with controls. This has implications for nursery and school placement even in those with expected good functional outcome. It seems self-evident that impairment of faecal continence should have a major negative impact on the QOL. This observation has been confirmed by the few existing paediatric QOL studies [15,16]. Many factors influence QOL including physical and mental health, psychosocial adjustment, family and peer group support, socioeconomic status, and educational achievement. The evaluation of the individual contribution of these often interrelated factors is complex. A variety of QOL assessment tools have been described and applied to children with chronic health problems. Some studies have inferred poor QOL from social or sexual problems related to impaired continence [17], whereas others have adapted the medical outcome study to their patient population [18], or used a self-designed QOL tool to compare subgroups within their patient populations [15]. These studies suffer from a lack of control data. Others have used validated tools to assess behavioural characteristics including the Teacher Report Form [19] and the Child Behaviour Checklist [19,16]. A further problem of generic
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health-related QOL tools is the need to adapt them to different age ranges within the study population. One such study concluded QOL to be severely impaired in the youngest ARM children, whereas older children showed improved QOL, and adults showed little difference from the normal population. Three different tools (TAIQOL [TNO-AZL Infants Quality of Life], TACQOL [TNO-AZL Children’s Quality of Life], and Short Form 36) were used in this study [20]. The PedsQL score has been widely used for children with a variety of chronic medical health problems. It assesses both physical health (8 items) and psychosocial health, including emotional, social, and school performance (5 items each). The current study demonstrated no correlation between QOL and FOS in children younger than 10 years. Although seemingly implausible, it is entirely reasonable to assume that the QOL, as measured by these items, is actually unaltered by faecal incontinence especially at young age. Ditesheim and Templeton [15] also found that before 10 years of age the QOL is not adversely affected by faecal continence score. They suggested that this was because of strong parental support. However, on reaching adolescence, faecal continence became the major determinant of QOL. It must be said that use of PedsQL has not been validated in QOL evaluation in surgical conditions including children with ARM. It is possible that standard QOL assessment tools are not adequate to pick up subtle problems in this group of patients. For this reason, a disease-specific paediatric QOL inventory has been designed for children with ARM but has not been widely tested [21]. Hassink et al [18] demonstrated that children with ARM have difficulty in forming relationships and achieve lower educational levels. The same group also demonstrated increased levels of stress in parents of incontinent older children but did not show poor behaviour in the children themselves [19]. One study of adults with treated ARM suggested that disease-specific factors such as constipation and faecal incontinence had almost no effect on QOL, compared with psychosocial functioning [22]. Further studies are required to evaluate the role of faecal continence on the QOL in children and young adults with ARMs. We intend to follow this geographically welldefined cohort through adolescence into adult life. It is to be hoped that the sensible application of effective bowel management strategies will improve the QOL in children with impaired faecal continence owing to ARM.
6. Conclusion Children with ARMs have significantly worse bowel function compared with their peers. The degree of functional impairment correlates with the severity of the ARM. Potty training for both bladder and bowel is delayed in
322 children with ARMs. Despite these findings, there appears to be little effect on QOL up to 10 years of age, and functional outcome did not improve with age.
References [1] Holschneider AM, Jesch NK, Stragholz E, et al. Surgical methods for anorectal malformations from Rehbein to Pena—critical assessment of score systems and proposal for a new classification. Eur J Pediatr Surg 2002;12:73 - 82. [2] Pena A. Anorectal malformations. Semin Pediatr Surg 1995;4:35 - 47. [3] deVries PA, Pena A. Posterior sagittal anorectoplasty. J Pediatr Surg 1982;17:638 - 43. [4] Rintala RJ, Lindahl H. Is normal bowel function possible after repair of intermediate and high anorectal malformations? J Pediatr Surg 1995;30:491 - 4. [5] Varni JW, Burwinkle TM, Seid M, et al. The PedsQL 4.0 as a pediatric population health measure: feasibility, reliability, and validity. Ambul Pediatr 2003;3:329 - 41. [6] Rhoads JE, Piper RL, Randall JP. A simultaneous abdominal and perineal approach in operations for imperforate anus with atresia of the rectum and recto-sigmoid. Ann Surg 1948;127:552 - 6. [7] Stephens FD. Imperforate rectum. A new surgical technique. Med J Aust 1953;1:202. [8] Kelly JH. The clinical and radiological assessment of anal continence in childhood. Aust N Z J Surg 1972;42:62 - 3. [9] Templeton Jr JM, Ditesheim JA. High imperforate anus—quantitative results of long-term fecal continence. J Pediatr Surg 1985;20: 645 - 52. [10] Kiesewetter WB, Chang JHT. Imperforate anus: a five to thirty year follow up perspective. Prog Pediatr Surg 1977;10:111 - 20. [11] Holschneider AM. Treatment and functional results of anorectal continence in children with imperforate anus. Acta Chir Belg 1983;83:191 - 204.
A. Goyal et al. [12] Stephens FD, Smith ED. Classification identification and assessment of surgical treatment of anorectal anomalies: report of a workshop meeting. Wisconsin7 Rocine; 1984. [13] Rintala RJ, Lindahl HG, Rasanen M. Do children with repaired low anorectal malformations have normal bowel function? J Pediatr Surg 1997;32:823 - 6. [14] Rintala RJ, Lindahl HG. Fecal continence in patients having undergone posterior sagittal anorectoplasty procedure for a high anorectal malformation improves at adolescence, as constipation disappears. J Pediatr Surg 2001;36:1218 - 21. [15] Ditesheim JA, Templeton Jr JM. Short-term v long-term quality of life in children following repair of high imperforate anus. J Pediatr Surg 1987;22:581 - 7. [16] Bai Y, Yuan Z, Wang W, et al. Quality of life for children with fecal incontinence after surgically corrected anorectal malformation. J Pediatr Surg 2000;35:462 - 4. [17] Rintala R, Mildh L, Lindahl H. Fecal continence and quality of life for adult patients with an operated high or intermediate anorectal malformation. J Pediatr Surg 1994;29:777 - 80. [18] Hassink EA, Rieu PN, Brugman AT, et al. Quality of life after operatively corrected high anorectal malformation: a long-term followup study of patients aged 18 years and older. J Pediatr Surg 1994;29: 773 - 6. [19] Hassink EA, Brugman-Boezeman AT, Robbroeckx LM, et al. Parenting children with anorectal malformations: implications and experiences. Pediatr Surg Int 1998;13:377 - 83. [20] Poley MJ, Stolk EA, Tibboel D, et al. Short term and long term health related quality of life after congenital anorectal malformations and congenital diaphragmatic hernia. Arch Dis Child 2004;89:836 - 41. [21] Hanneman MJ, Sprangers MA, De Mik EL, et al. Quality of life in patients with anorectal malformation or Hirschsprung’s disease: development of a disease-specific questionnaire. Dis Colon Rectum 2001;44:1650 - 60. [22] Hartman EE, Oort FJ, Aronson DC, et al. Critical factors affecting quality of life of adult patients with anorectal malformations or Hirschsprung’s disease. Am J Gastroenterol 2004;99:907 - 13.