Long-term evaluation of fecal continence and quality of life in patients operated for anorectal malformations

Avaliação tardia da continência fecal e da qualidade de vida em pacientes operados por malformações anorretais

Summary

Introduction:

Patients operated for correction of anorectal malformations (ARM) can develop fecal incontinence, constipation, and soiling, with loss in quality of life.

Objective:

To evaluate, through the use of questionnaires, fecal continence, and quality of life of children in the late postoperative follow-up of ARM correction, both high and low. In addition, the levels of fecal continence and quality of life were compared with those of a control group.

Method:

A Fecal Continence Index Questionnaire (ICF) and a Questionnaire for Assessment of Quality of Life Related to Fecal Continence in Children and Adolescents (QQVCFCA) were administered to 63 patients with ARM, aged from 7 to 19 years, whose surgical treatment had been completed for at least 6 months. The patients were compared to a control group of 59 children.

Results:

In the control group, 25 (42.4%) patients had good continence and 34 (57.6%), normal continence. We found that the quality of life in children with ARM is compromised globally, in all areas and in the ICF questionnaire, compared to controls (p<0.001). There was no difference between patients with high and low defects. Thirty-two (50.8%) patients had other associated anomalies.

Conclusion:

In patients operated for ARM correction, quality of life and ICF were compromised, and there was no difference between patients with high-type and low-type of the disease. In about half the cases there are other associated malformations.

Keywords
imperforate anus; anorectal malformation; quality of life; fecal incontinence

Resumo

Introdução:

os pacientes operados para correção de malformações anorretais (MAR) podem evoluir com incontinência fecal, constipação e soiling, com prejuízo na qualidade de vida.

Objetivo:

avaliar pela aplicação de questionários a continência fecal e a qualidade de vida de crianças no seguimento pós-operatório tardio de correção de MAR, formas altas e baixas. Também foram comparados os índices de continência fecal e qualidade de vida com um grupo controle de crianças.

Método:

foram utilizados o Questionário para o Índice de Continência Fecal (ICF) e o Questionário para Avaliar a Qualidade de Vida Relativa à Continência Fecal em Crianças e Adolescentes (QQVCFCA). Os questionários foram aplicados em 63 pacientes de 7 a 19 anos com MAR, com tratamento cirúrgico finalizado há pelo menos 6 meses. Os pacientes foram comparados com um grupo controle de 59 crianças.

Resultados:

nos pacientes do grupo controle, 25 (42,4%) apresentaram boa continência e 34 (57,6%), normal. A qualidade de vida nas crianças com MAR está comprometida globalmente, em todos os domínios e no ICF, quando comparada com a dos controles (p<0,001). Não houve diferença entre os pacientes com anomalias altas e anomalias baixas. Trinta e dois (50,8%) pacientes apresentaram outras anomalias associadas.

Conclusão:

nos pacientes operados para correção de MAR, qualidade de vida e ICF foram comprometidos, não havendo diferença entre os pacientes com as formas altas ou baixas da doença. Em cerca de metade dos casos existem outras malformações associadas.

alavras-chave
ânus imperfurado; malformação anorretal; qualidade de vida; incontinência fecal

INTRODUCTION

Anorectal malformations (ARM) are pathologies that, despite adequate treatment, may progress to fecal incontinence, constipation, and soiling.¹ Fecal incontinence, defined as the inability to control the emission of flatus and/or feces, can become an obstacle in the occupational, social, emotional, sportive, and sexual spheres of a person’s life, leading to psychiatric disorders and even loss of independence.² It is closely related to the concept of quality of life (QoL), defined by the World Health Organization as “the individual’s perception of their position in life in the context of culture and the system of values in which they live and in relation to their goals, expectations, standards, and concerns”.³ Thus, QoL has become in the last decade an important indicator of medical outcomes, supporting the follow-up of these patients, which justifies the use of questionnaires for evaluation.

Most of the reviews show that patients with impaired bowel function also have impaired QoL, and this correlation varies from small to medium or strong.¹ The studies also show that fecal continence is more affected in children than in teenagers, even though the QoL of adolescents is more compromised than that of children.¹

Therefore, questionnaires that allow an objective evaluation and a longitudinal follow-up of patients have been increasingly used. Many questionnaires relate QoL with fecal continence, and some are specific to the diseases studied. Examples include the Fecal Incontinence Quality of Life (FIQL),⁴ the Hirschsprung’s Disease Anorectal Malformation QoL Questionnaire (HAQL)⁵ and the Clinical Evaluation of Continence (Holschneider Criteria).⁶ These questionnaires have been adapted and validated in several countries such as France, Spain, and Sweden. As for the Portuguese language, our group previously validated the Fecal Continence Index (ICF) questionnaire and the Questionnaire for Assessment of Quality of Life Related to Fecal Continence in Children and Adolescents (QQVCFCA).⁷

This work was developed with the purpose of applying the ICF and QQVCFCA questionnaires in patients with ARM attending a tertiary center of pediatric surgery. We will thus be able to know more about the profile of patients and their conditions, and to start using these tools in clinical practice. In short, the objectives of this study were:

• To evaluate continence and quality of life of children in the late postoperative follow-up of ARM correction by applying questionnaires designed specifically for our population and the studied age groups.

• To compare the rates of fecal continence and quality of life of children surgically treated for ARM correction with a group of normal children.

• To compare the quality of life of children with high and intermediate ARM with that of children with low-type malformations.

• To document the malformations associated with ARM.

Method

The tools used to assess quality of life and fecal continence were: the ICF questionnaire and the QQVCFCA. These instruments were based on questionnaires already established and have gone through a thorough validation process, described in an early work by the same group. The questionnaires were sent to patients and volunteers by mail, and also applied through telephone interviews and after outpatient visits. The research project was approved by the Research Ethics Committee of the Institution.

Fecal Continence Index (ICF)

The ICF questionnaire was based on the Clinical Evaluation of Fecal Continence (Holschneider Criteria). It consists of eight questions easily understood on procedures of everyday life (questions 1-5) and on diarrhea, constipation, and use of auxiliary treatment (questions 6-8), meeting the Holschneider Criteria. The final score ranges from 0 to 16, with 0 to 2 points given to each question. The 0-5 range indicates poor continence, 6-10 indicates fair continence, 11-15 indicates good continence, and the maximum score of 16 indicates normal fecal continence (Chart 1).

CHART 1
Fecal Continence Index (ICF) questionnaire.

Questionnaire for Assessment of Quality of Life Related to Fecal Continence in Children and Adolescents (QQVCFCA)

The QQVCFCA is based on the translation into Portuguese and further validation of the Fecal Incontinence Quality of Life (FIQL) questionnaire. It comprises 24 questions, covering the same domains of the original: lifestyle (questions 2, 4, 7, 10, 16, 19, 20; totaling seven items), behavior (questions 1, 6, 11, 12, 15, 17, 21; seven items), depression (questions 3, 8, 14, 18, 22, 23, 24; seven items), and shame/embarrassment (questions 5, 9 e 13; total of three items). Questions 22 and 23 are related to patient opinion and satisfaction with their own health and bowel function. Each question has a score from 1 to 4, with 1 being the worst situation. The final score is obtained by summing the scores of each domain, and ranges from 4 to 16 (Chart 2).

CHART 2
Questionnaire for Assessment of Quality of Life Related to Fecal Continence in Children and Adolescents (QQVCFCA).

Patients

The questionnaires were administered to 63 patients with ARM, aged from 7 to 19 years, whose surgical treatment had been completed for at least 6 months. They were all operated by the pediatric surgery team at Instituto da Criança, HC-FMUSP, in São Paulo. Patients were randomly selected, and those with conditions that could affect the sphincter control, such as impaired psychomotor development and neurological disorders, were excluded.

Twenty-eight (44.5%) patients were female and 35 (55.5%) were male, and the mean age was 12.2 years.

Fifty-nine normal children without intestinal functioning complaints and demographically similar to the assessed patients also answered the questionnaires. They were selected from the pediatric surgery outpatient clinic and were suffering from common surgical conditions such as inguinal hernia and phimosis. As done with the study groups, questionnaires were sent by mail or answered by telephone interview or after outpatient visit.

Comparison between patients with ARM and the controls

Data on children with ARM were compared with those of children in the control group and subjected to statistical analysis.

Comparison between patients with low-type ARM and patients with high and intermediate ARM

In this study, the cases of high and intermediate ARM were grouped as “high-type”, since they were treated using the same technique. Cases of persistent cloaca were also considered high ARM, for the same reason. Thus, high anomalies in males were the cases of recto-urethral fistula or rectovesical fistula, and in females, rectovestibular fistula or cloaca. Low-type anomalies included cases of perineal fistula, anterior ectopic anus, anal stenosis, anal atresia, and scrotal fistula in males. In cases of anomaly without fistula, Wangensteen-Rice or inverted-position radiographs (Figure 1) were carried out. Thus, when the distance between the air column in the distal rectum and the anus site was greater than 1 cm, the anomaly was considered high, while distances of less than 1 cm were considered low.

FIGURE 1
A. High anorectal anomaly in a male newborn, 24 hours after birth – note the absence of the anus and any orifices indicating perineal fistula. B. Persistent cloaca in a female newborn – note the absence of the anus and presence of one perineal orifice corresponding to the urinary, genital and digestive tracts. C. High anorectal anomaly in a male newborn, with recto-urethral fistula – note the passing of meconium through the penis. D. Low-type anomaly, with visible perineal fistula, stained with meconium. E. Perineal anus in a girl. F. The placement of a surgical instrument allows the membrane to be sectioned for the correction of the defect to be seen. G. Inverted radiography made in a newborn with anomaly and without perineal fistula – note the distance from the rectal cul-de-sac pouch (filled with gas) up to the anal impression marked by the metallic object (coin). H. Plain radiographs showing abnormality in the lumbar spine (hemivertebra) and partial absence of the sacrum.

All cases of high-type anomaly were treated with double-barrel colostomies in the neonatal period and, later, with posterior sagittal anorectoplasty according to Peña’s technique. Low-type anomalies were treated with proctoplasty in the neonatal period.

Based on these data, we were able to compare the results of children with high ARM with those of children with low ARM.

Associated malformations

Given that ARMs are associated with other malformations, a survey of other defects present in these patients was performed. Data were obtained from medical records and questionnaires.

Statistical analysis

The histograms constructed reveal that the data does not have a normal distribution. Thus, in all analyzes, Mann-Whitney test was used. The confidence interval was 95%, thus with an alpha error of 0.05.

RESULTS

Comparison between patients with ARM and the controls

We found that the quality of life of children with ARM is globally compromised in every domain and in the ICF questionnaire compared with the control group (p<0.001 for all comparisons) (Table 1).

TABLE 1
Comparison of ICF and QQVCFCA questionnaires, and their domains between the children with ARM and the control group.

				Mean		Median		Standard deviation		Percentile 25		Percentile 75
ICF		ARM		10.76		11.00		4.01		8.00		14.00
		Control		15.37		16.00		1.00		15.0		16.00
QQVCFCA		ARM		11.17		11.79		3.27		8.99		14.03
		Control		15.23		15.57		0.95		15.07		15.71
LS		ARM		3.11		3.28		0.90		2.40		4.00
		Control		3.88		4.00		0.30		4.00		4.00
BEH		ARM		3.08		3.28		0.81		2.57		3.85
		Control		3.88		4.00		0.27		3.85		4.00
DEP		ARM		2.63		2.71		0.81		2.00		3.28
		Control		3.58		3.66		0.31		3.42		3.85
EMB		ARM		2.33		2.30		1.07		1.33		3.33
		Control		3.89		4.00		0.27		4.00		4.00

• ICF: Fecal Continence Index; QQVCFCA: Questionnaire for Assessment of Quality of Life Related to Fecal Continence in Children and Adolescents; ARM: anorectal malformations; LS: lifestyle; BEH: behavior; DEP: depression; EMB: shame/embarrassment.

Twenty-five (42.4%) of the control children showed good continence, and 34 (57.6%), normal continence. Conversely, among patients with ARM, 10 (15.9%) had poor continence; 20 (31.7%), regular; 24 (38.1%), good; and 9 (14.3%) had normal continence.

Comparison between patients with low-type ARM and patients with high and intermediate ARM

Forty of 63 patients with ARM had high-type anomalies and 15 had low-type. As for the eight remaining patients, there was no information regarding type of anomaly. Patients with high-type ARM had a mean age of 12.9 years, and included 18 females and two males. With respect to continence, six (15%) showed poor; 13 (32.5%), regular; 15 (37.5%), good; and six (15%), normal continence. Patients with low-type ARM, however, had a mean age of 9.93 years, and six were female, while nine were male. Two (13.3%) patients had poor continence; six (40%), regular; four, (26.7%) good; and three (20%), normal continence. Statistical comparisons produced the following p-values: ICF (p=0.95), QQVCFCA (p=0.87), lifestyle (p=0.68), behavior (p=0.71), depression (p=0.50), and shame/embarrassment (p=0.40). Therefore, both types of ARM presented similar performances (Table 2).

TABLE 2
ICF and QQVCFCA questionnaires, and their domains in patients with high-type ARM and patients with low-type ARM.

				Mean		Median		Standard deviation		Percentile 25		Percentile 75
ICF		High-type ARM		10.89		11.5		3.90		8.00		14.00
		Low-type ARM		10.86		10.00		4.22		7.00		1.005
LS		High-type ARM		3.19		3.42		0.83		2.60		4.00
		Low-type ARM		2.99		3.27		0.97		2.16		4.00
BEH		High-type ARM		3.14		3.28		0.73		2.57		3.71
		Low-type ARM		2.99		3.00		0.92		2.57		3.85
DEP		High-type ARM		2.61		2.49		0.74		2.03		3.10
		Low-type ARM		2.71		2.85		0.92		2.00		3.28
EMB		High-type ARM		2.28		2.15		1.04		1.33		3.00
		Low-type ARM		2.55		2.66		1.15		1.33		4.00
QQVCFCA		High-type ARM		11.22		11.72		3.01		9.06		13.24
		Low-type ARM		11.26		11.79		3.73		7.42		15.28

• ICF: Fecal Continence Index; QQVCFCA: Questionnaire for Assessment of Quality of Life Related to Fecal Continence in Children and Adolescents; ARM: anorectal malformations; LS: lifestyle; BEH: behavior; DEP: depression; EMB: shame/embarrassment.

Associated malformations

Thirty-two patients with ARM had other associated malformations. Of these, 13 had defects in more than two systems. We found 14 patients with urinary tract malformations, of which: one cake kidney, three neurogenic bladders, two cases of crossed renal ectopia, two of single kidney, three of vesicoureteral reflux, one of two urethral meatuses, one of penoscrotal transposition, one of urethral stenosis, one of bilateral hydronephrosis, one of horseshoe kidney, one of contracted kidney, one of double bladder, and two of malformations not specified in the medical records. Six patients had cardiac abnormalities, including one with persistent arterial duct, one with permeable foramen ovale; two with interatrial communication; two with interventricular communication; and three with defects not defined in the medical records. Three patients had esophageal atresia and one intestinal atresia. As for the skeletal system, five had involvement of the sacrum (agenesis or hypoplasia), two hypoplastic thumbs, six vertebral malformations, one radium agenesis, and one unspecified. One patient had meningocele. Two patients had vaginal agenesis, and two had Rokitansky syndrome. One patient had unspecified larynx malformation.

DISCUSSION

Fecal incontinence can occur with some degree of intensity in approximately 30 to 50% of the patients with ARM,^8,9 similarly to that observed in the present study. The importance of fecal continence and its relation with QoL has been much explored through questionnaires, allowing assessments that are useful for clinical practice and crucial for clinical trials.

In addition to traditional questionnaires such as the Fecal Incontinence Questionnaire,¹⁰ The Fecal Incontinence Severity Index,¹¹ Fecal Incontinence Quality of Life (FIQL),¹¹ Hirschsprung’s Disease Anorectal Malformation QoL Questionnaire (HAQL),⁵ Medical Outcomes Study 36 – Item Short – Form Health Survey,¹² and the Clinical Evaluation of Continence (Holschneider Criteria),⁶ many translated versions have been created. Minguez et al. validated the FIQL into Spanish, applying it to patients with fecal incontinence caused by different etiologies;¹³ Rullier et al. validated the FIQL into French;¹⁴ and in Sweden, Wigander et al. translated and culturally adapted the HAQL.¹⁵ In Brazil, Yusuf et al. validated the FIQL into Portuguese, but did not adapt it to children and adolescents since the mean age of their patients was 52.8 years.¹⁶

In keeping with this trend, our group created and validated the QQVCFCA and the ICF questionnaires, since the population seen in our service has specific characteristics that were not covered by other questionnaires. The QQVCFCA and the ICF questionnaires are in Portuguese, they address issues relevant to children and adolescents, use language that is easy to understand, without overly technical terms or complex alternative words that are difficult to comprehend, they can be applied in interviews or answered by the patient or guardian without the need for an interviewer, and excluded issues considered unsuitable for children, involving sexuality and situations of severe depression. The steps of translation, cultural adaptation, reproducibility in time, construct validity and discriminant validity were carried out judiciously. Once finalized, these instruments could be applied to a larger number of patients and this work shows the data obtained.

The patients with ARM presented higher rates of fecal incontinence compared with the controls. The diseases themselves may present with malformations of perineal structures, which are fundamental for fecal continence, and surgical treatment of anatomic area often can damage microstructures, such as nerves and muscle fibers. Consequently, a reduction in quality of life of these patients was identified. QQVCFCA domains most affected were: shame/embarrassment (median of 4.0 for the controls and 2.33 for the ARM group) and depression (medians of 3.66 and 2.71 for ARMs). Thirty patients (47.6%) were considered incontinent (poor or regular continence), while none of the children in the control group had such problem.

The percentages of patients with fecal incontinence in the groups of high and low ARM were similar (47.5 and 53.3%, respectively). We expected that continence in cases of high ARM would be worse than in low-type anomalies. We noted that the average age of the patients with high ARM was 12.9 years and of those with low ARM, 9.9 years. Since, classically, children with anorectal anomalies take longer than normal children to acquire fecal continence (often only in adolescence), it is possible that this difference of three years between cases of high and low anomalies may have influenced the fact that the two groups have shown similar results.^17-19

Last, the combination of ARM with other congenital malformations is a consensus in the scientific literature.²⁰ The most common are those in the urinary tract, musculoskeletal system and cardiovascular. Therefore, patients often undergo several corrective surgical and monitoring procedures in different specialized outpatient services, increasing treatment complexity. In addition, the association of ARMs and genetic diseases, such as Down syndrome, is common and affects a significant percentage of patients. Due to such variation regarding conditions and associated genetic diseases, the fact that the patients can present other factors interfering with their assessments of QoL and fecal continence, which is a cause for bias, must be taken into account. There is a great need for the creation and validation of specific methods to assess such children, both in terms of fecal continence and quality of life.

As the questionnaires were validated for children and adolescents aged 7-19 years, children under 7 years of age were not studied. Creating different questionnaires and play evaluations is fundamental due to difficulties related to understanding and abstraction required for the answers.

CONCLUSION

Patients with ARM must learn to live with a variety of symptoms and difficulties, including fecal incontinence. The data presented in this study show the need for comprehensive and multidisciplinary care of children with ARM in the long term, aimed at improving the quality of life and to overcoming the psychological and social difficulties caused by changes in fecal continence. A better understanding and acceptance of limitations, leading to self-awareness and the adoption of more appropriate nutritional strategies, can improve both fecal continence and quality of life.

• Study conducted at Serviço de Cirurgia Pediátrica e Transplante Hepático, Instituto da Criança, Hospital das Clínicas, Faculdade de Medicina, Universidade de SãoPaulo (HC-FMUSP), São Paulo, SP, Brazil
• Financial support: Program of Scientific Initiation, Universidade de São Paulo (PIC/USP), modality Santander

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Publication Dates

• Publication in this collection
  Sept 2016

History

• Received
  29 June 2016
• Accepted
  26 July 2016