Did Age at Surgery Influence Outcome in Patients With Hirschsprung Disease? A Nationwide Cohort Study in the Netherlands.

OBJECTIVES: Hirschsprung disease (HD) requires surgical resection of affected bowel, but the current evidence is inconclusive regarding the optimal age for resection. The aim of this study was to assess whether age at resection of the aganglionic segment is a determinant for surgical outcomes. METHODS: A cross-sectional cohort study was done including all consecutive patients with HD between 1957 and 2015, aged 8 years or older (n = 830), who were treated in 1 of the 6 pediatric surgical centers in the Netherlands. Outcome measures were mortality, postoperative complications, stoma rate and redo surgery rate, retrieved from the medical records. Additionally, constipation and fecal incontinence rate in long term were assessed with the Defecation and Continence Questionnaire (DeFeC and P-DeFeC). RESULTS: The medical records of 830 patients were reviewed, and 346 of the 619 eligible patients responded to the follow-up questionnaires (56%). There was a small increase in the risk of a permanent stoma [odds ratio (OR) 1.01 (95% confidence interval {CI}: 1.00-1.02); P = 0.019] and a temporary stoma [OR 1.01 (95% CI: 1.00-1.01); P = 0.022] with increasing age at surgery, regardless of the length of the aganglionic segment and operation technique. Both adjusted and unadjusted for operation technique, length of disease, and temporary stoma, age at surgery was not associated with the probability and the severity of constipation and fecal incontinence in long term. CONCLUSIONS: In this study, we found no evidence that the age at surgery influences surgical outcomes, thus no optimal timing for surgery for HD could be determined.

Familial Experience With Hirschsprung's Disease Improves the Patient's Ability to Cope.

Introduction: Familial occurrence of Hirschsprung's disease may have a positive effect on patients' ability to cope with the disease. The aim was to compare long-term bowel function and generic quality of life between patients with familial and non-familial Hirschsprung's disease. Methods: This was a nationwide, cross-sectional study in which we included all 830 Hirschsprung patients of 8 years and older who had undergone surgery between 1957 and 2015. We excluded patients with a permanent stoma, intellectual disability, or an unknown or foreign address. We requested patients to complete the validated pediatric or adult Defecation and Fecal Continence questionnaire and the Child Health Questionnaire Child Form-87, or the World Health Organization Quality of Life-100 Assessment Instrument. Results: We analyzed 336 Hirschsprung patients, 15.8% of whom were familial cases and 84.2% were non-familial cases. After adjusting for aganglionic length, sex, and age, patients with familial Hirschsprung's disease were twice more likely to suffer from constipation (OR = 2.47, 95% CI, 1.21-5.05, p = 0.013). The quality of life of the pediatric patients was comparable, but in adult patients the energy/fatigue, thinking/learning/concentration, and work capacity facets showed better scores in the familial patients with Hirschsprung's disease of the rectosigmoid (p = 0.029, p = 0.024, p = 0.036, respectively). Conclusions: Different facets of generic quality of life are better in adult patients with familial Hirschsprung's disease of the rectosigmoid. It seems that familial experience with the disease influences patients' coping abilities positively.

Functional Outcomes After Surgery for Total Colonic, Long-Segment, Versus Rectosigmoid Segment Hirschsprung Disease.

OBJECTIVES: Knowledge on long-term outcomes in patients with Hirschsprung disease is progressing. Nevertheless, differences in outcomes according to aganglionic lengths are unclear. We compared long-term bowel function and generic quality of life in Hirschsprung patients with total colonic or long-segment versus rectosigmoid aganglionosis. METHODS: In this nationwide, cross-sectional study participants with proven Hirschsprung disease received the Defecation and Fecal Continence questionnaire, and the Child Health Questionnaire Child Form-87, or the WHO Quality of Life-100. We excluded deceased patients, patients who were younger than 8 years, lived abroad, had a permanent enterostomy, or were intellectually impaired. RESULTS: The study population (n = 334) was operated for rectosigmoid (83.9%), long-segment (8.7%), or total colonic aganglionosis (7.5%). Fecal incontinence in general was not significantly different between the three groups, but liquid fecal incontinence was significantly associated with total colonic aganglionosis (odds ratio [OR] = 6.00, 95% confidence interval [CI] 2.07-17.38, P = 0.001). Regarding constipation, patients with total colonic or long-segment aganglionosis were less likely to suffer from constipation than the rectosigmoid group (OR = 0.21, 95% CI, 0.05-0.91, P = 0.038 and OR = 0.11, 95% CI, 0.01-0.83, P = 0.032). Quality of life was comparable between the three groups, except for a lower physical score in children with total colonic aganglionosis (P = 0.016). CONCLUSIONS: Over time Hirschsprung patients with total colonic or long-segment aganglionosis do not suffer from worse fecal incontinence in general. A difference in stool consistency may underlie the association between liquid fecal incontinence and total colonic aganglionosis and constipation in patients with rectosigmoid aganglionosis. Despite these differences, generic quality of life is comparable on reaching adulthood.

The influence of demographic characteristics on constipation symptoms: a detailed overview.

BACKGROUND: Diagnosing constipation remains difficult and its treatment continues to be ineffective. The reason may be that the symptom patterns of constipation differ in different demographic groups. We aimed to determine the pattern of constipation symptoms in different demographic groups and to define the symptoms that best indicate constipation. METHODS: In this cross-sectional study the Groningen Defecation and Fecal Continence questionnaire was completed by a representative sample of the adult Dutch population (N = 892). We diagnosed constipation according to the Rome IV criteria for constipation. RESULTS: The Rome criteria were fulfilled by 15.6% of the study group and we found the highest prevalence of constipation in women and young adults (19.7 and 23.5%, respectively). Symptom patterns differed significantly between constipated respondents of various ages, while we did not observe sex-based differences. Finally, we found a range of constipation symptoms, not included in the Rome IV criteria, that showed marked differences in prevalence between constipated and non-constipated individuals, especially failure to defecate (∆ = 41.2%). CONCLUSIONS: Primarily, we found that certain symptoms of constipation are age-dependent. Moreover, we emphasize that symptoms of constipation not included in the Rome IV criteria, such as daily failure to defecate and an average duration of straining of more than five minutes, are also reliable indicators of constipation. Therefore, we encourage clinicians to adopt a more comprehensive approach to diagnosing constipation.

Subtypes and symptoms of fecal incontinence in the Dutch population: a cross-sectional study.

PURPOSE: To study the distribution of subtypes and symptoms of fecal incontinence in the general Dutch population. METHODS: We performed a cross-sectional study in a representative sample of the general Dutch population. All respondents (N = 1259) completed the Groningen Defecation and Fecal Continence questionnaire. We assigned the respondents to a so-called healthy subgroup (n = 1008) and a comorbidity subgroup (n = 251). The latter subgroup comprised the respondents who reportedly suffered from chronic diseases and who had undergone surgery known to influence fecal continence. We defined fecal incontinence according to the Rome IV criteria. RESULTS: The combination of urge fecal incontinence and soiling was the most frequent form of fecal incontinence in the total study group, the "healthy" subgroup, and the comorbidity subgroup (49.0, 47.3, and 51.5%). Passive fecal incontinence was the least frequent form of fecal incontinence in all three groups (4.0, 5.4, and 2.2%). The prevalence and severity of fecal incontinence was significantly higher in the comorbidity subgroup than in the "healthy" subgroup. Only in the comorbidity subgroup did the fecally incontinent respondents feel urge sensation significantly less often before defecating than their fecally continent counterparts (16.5 versus 48.8%, P < 0.001). CONCLUSION: Urge fecal incontinence combined with soiling is commonest in the general Dutch population. Chronic diseases and bowel and pelvic surgery both increase and aggravate fecal incontinence.

Anorectal Manometry May Reduce the Number of Rectal Suction Biopsy Procedures Needed to Diagnose Hirschsprung Disease.

OBJECTIVES: The aim of the study was to evaluate whether anorectal manometry (ARM), which is used to test the rectoanal inhibitory reflex (RAIR), is a safe alternative for reducing the number of invasive rectal suction biopsy (RSB) procedures needed to diagnose Hirschsprung disease (HD). METHODS: Between 2010 and 2017, we prospectively collected the ARM results of 105 patients suspected of having HD. Following the outcome, the patients either underwent additional tests to confirm HD or they were treated conservatively. Primary ARM-based diagnoses were compared with the definitive diagnoses based on the pathology reports and/or clinical follow-ups. Additionally, we analyzed whether modifications to our ARM protocol improved diagnostic accuracy. RESULTS: The sensitivity of ARM and RSB was comparable (97% vs 97%). The specificity of ARM, performed according to our initial protocol, was significantly lower than that of RSB. After we modified the protocol the difference between the specificity of ARM and RSB was no longer statistically significant (74% vs 84%, respectively, P = 0.260). The negative predictive value of ARM was 100%, while their positive predictive value was significantly lower than that of RSB (56% vs 97%, P < 0.001). CONCLUSIONS: ARM is a viable screening tool for HD and, provided it is performed properly, it can be used to exclude HD with absolute certainty. By contrast, an absent rectoanal inhibitory reflex on ARM should always be followed by an RSB to confirm the diagnosis of HD. Using ARM as the diagnostic of first choice could reduce the number of invasive biopsies.

Reproducibility, feasibility and validity of the Groningen Defecation and Fecal Continence questionnaires.

OBJECTIVES: Current questionnaires on defecation disorders are often brief and fail to include questions considering causative factors. Furthermore, adult and pediatric questionnaires differ, which makes it impossible to monitor defecation disorders during the transition from childhood to adulthood. With these points in mind, we developed the Groningen Defecation and Fecal Continence (DeFeC) questionnaire and its pediatric equivalent, the P-DeFeC. The aim of this paper is to introduce the questionnaires and to assess their feasibility, reproducibility and validity. MATERIALS AND METHODS: Various Rome IV criteria and scoring tools for constipation and fecal incontinence were incorporated, resulting in nine categories. Feasibility and reproducibility were assessed by performing a test-retest survey in 100 adult participants. Concurrent validity was assessed in 27 patients and 18 healthy volunteers by comparing questionnaire-based diagnoses of constipation and fecal incontinence to final diagnoses based on anorectal function tests. RESULTS: There were no remarks on the understandability of any questions. The Cohen's kappa coefficient of all main questions ranged from 0.26 to 1.00, with an average of 0.57. All but one category showed moderate agreement or higher. The sensitivity of the questionnaire-based diagnosis of constipation was 75%; specificity was 100%. The sensitivity of the questionnaire-based diagnosis of fecal incontinence was 77%; specificity was 94%. CONCLUSIONS: Overall reproducibility of the Groningen DeFeC questionnaire is acceptable and its validity is good. This makes it a feasible screening tool for defecation disorders and, equally important, with these questionnaires defecation disorders can now be monitored during the transition from childhood to adulthood.

On the prevalence of constipation and fecal incontinence, and their co-occurrence, in the Netherlands.

PURPOSE: Numerous studies have investigated the prevalence of constipation and fecal incontinence (FI) in the general population and, even though these disorders are known to co-occur, they were studied independently of each other. Our aim was to investigate the prevalence of constipation and FI, and their co-occurrence, in the general population in the Netherlands. METHODS: We studied a cross-section of the Dutch population (N = 1259). All respondents completed the Groningen Defecation & Fecal Continence checklist. We defined constipation and FI in accordance with the Rome III criteria. RESULTS: We found that 24.5% (95% CI, 22.1-26.8) suffered from constipation, 7.9% (95% CI, 6.4-9.4) suffered from FI, and 3.5% (95% CI, 2.5-4.5) suffered from both disorders. Constipated respondents were 2.7 times more likely to suffer from FI than non-constipated respondents (95% CI, 1.8-4.0). Moreover, 48.7% of the respondents with constipation, 35.0% with FI, and 38.6% in whom the disorders co-occurred qualified their bowel habits as either "good" or "very good". We found that 49.4% of the respondents with constipation and 48.0% with FI had not discussed their complaints with anyone. CONCLUSIONS: Constipation and FI, isolated or co-occurring, are common disorders in the general population, even in young and healthy respondents. Since constipation and FI often co-occur, we recommend that patients who seek medical attention for either disorder should be examined for both. Moreover, constipation and/or FI are not always identified appropriately by patients. Therefore, physicians should take the initiative to diagnose and treat these disorders.

Infant's Age Influences the Accuracy of Rectal Suction Biopsies for Diagnosing of Hirschsprung's Disease.

BACKGROUND & AIMS: Hirschsprung's disease (HD) is a rare birth defect of the distal colon. Analysis of rectal suction biopsy (RSB) is considered to be the most reliable method for its diagnosis in infants. However, the diagnostic accuracy of RSB analysis could be affected by the patient's age, possibly because of rapid development of the enteric nervous system in the first weeks after birth. Because there is a trend toward testing for HD at early ages, we aimed to determine whether the diagnostic accuracy of RSB analysis is associated with the patient's age. METHODS: We performed a retrospective analysis of all patients from whom 1 or more RSBs were analyzed from 1975 through 2011 (529 RSBs from 441 patients). Outcomes of RSB analyses were categorized as positive, inconclusive, or negative for HD. Primary diagnoses, based only on RSB, were compared with final diagnoses made after at least 1 year of clinical follow-up. Age at time of RSB analysis was corrected for the gestational age. By using these criteria, we determined the diagnostic accuracy of RSB analysis for different age groups. RESULTS: RSB analysis identified HD in patients with sensitivity values of 46% (patients -45 to 7 days old), 47% (8-22 days old), and 62% (23-39 days old) (corrected for gestational age). The average sensitivity with which RSB analysis identified HD in patients older than 39 days was 88%. RSB identified HD in patients younger than 39 days old with significantly lower sensitivity than in older patients (50% vs 88%, P < .001). The specificity with which RSB identified infants without HD was not affected by age (average 95%). Of all RSBs, 11% were inconclusive for the diagnosis of HD. CONCLUSIONS: RSB analysis identifies HD in patients younger than 39 days old with only 50% sensitivity. Moreover, RSBs obtained from younger patients often lead to inconclusive outcomes and require additional biopsies. We propose that for infants suspected of HD at these ages, a noninvasive technique, such as anorectal manometry, should be used for a primary diagnosis. RSB should thereafter be used to confirm the diagnosis when the infant is older than 39 days.

Dyssynergic defecation may play an important role in postoperative Hirschsprung's disease patients with severe persistent constipation: analysis of a case series.

BACKGROUND: After surgery for Hirschsprung's disease (HD) the majority of patients have satisfactory clinical outcomes. Nevertheless, a substantial number of patients remain who suffer from severe persistent constipation. Current consensus attributes these complaints to the hallmarks of HD. In non-HD patients a cause for severe constipation is dyssynergic defecation. METHODS: Retrospectively, we reviewed the medical records of ten postoperative HD patients with severe persistent constipation who had undergone extensive anorectal function tests to diagnose the reason for the constipation. We analyzed the results of these tests. RESULTS: During the last three years, ten postoperative HD patients with severe persistent constipation were given extensive anorectal function tests. All ten patients were diagnosed with dyssynergic defecation. The ages at the time of diagnosis ranged from 7 to 19years with a median age of 12years. Signs of an enlarged rectum were seen in all ten patients, with a maximum measured value of 845mL. CONCLUSIONS: Patients with HD may also suffer from dyssynergic defecation. It is important to consider this possibility when dealing with severe persistent constipation in postoperative HD patients. Viable options for treating dyssynergic defecation are available that could prevent irreversible long-term complications.