Kristiina Kyrklund

Evaluation of bowel function and fecal continence in 594 Finnish individuals aged 4 to 26 years.

BACKGROUND: Limited information exists on what constitutes normal bowel function in children and adolescents. This information is essential for determining outcomes of surgery for anorectal malformations and other colonic disorders. OBJECTIVE: The aim of this study was to define bowel function and fecal continence in a large sample of individuals aged 4 to 26 years. DESIGN: This investigation is a cross-sectional cohort study. SETTINGS: Five hundred ninety-four individuals aged 4 to 26 years were randomly selected from the population register of Finland. Participants anonymously answered a previously validated 7-item postal questionnaire on bowel function. MAIN OUTCOME MEASURES: The primary outcomes measured were bowel function score, fecal continence, stooling frequency, constipation, and social problems in relation to bowel function RESULTS: Recognition of the need to defecate was well established by age 4, but the ability to hold back defecation improved with age. Fecal accidents decreased from 11% in preschool children to 2% by 13 to 17 years (p = 0.02). Fecal staining of underwear was common (33%); the prevalence of soiling decreased with age. Stooling frequency was normal in 92%. Constipation was more common in females. Problems restricting social life in relation to bowel function were rare (0.5%). CONCLUSIONS: The fine-tuning of fecal continence continues to develop during childhood. Minor soiling is common in healthy individuals. Because of the changes with age, the evaluation of functional outcomes in patients who have undergone surgical treatment of anorectal malformations or other colonic disorders should include comparison with data from age-matched controls.

A population-based, complete follow-up of 146 consecutive patients after transanal mucosectomy for Hirschsprung disease.

OBJECTIVE The objective of the study is to define the population-based bowel functional outcomes and enterocolitis following transanal endorectal pull-through (TEPT) in patients with Hirschsprung disease (HD) treated at our institution between 1986 and 2011. METHODS 146 consecutive patients who had undergone primary surgical treatment for HD were included. The median follow-up time was 15 (3-33) years. The clinical details and prevalence of enterocolitis were evaluated in all patients, and bowel function in patients >3 years of age with functional intestino-anal continuity. RESULTS No patients were lost to follow-up. Overall survival was 98%. The level of disease was rectosigmoid in 83%, long segment in 7%, total colonic in 4%, and extending up to the small bowel in 6%. 29% had an associated syndrome. 22% had a preoperative stoma. Operations included TEPT (89%), proctocolectomy with ileoanal anastomosis in 9%, and 3% had a permanent endostomy owing to small intestinal aganglionosis. One patient underwent intestinal transplantation. At the latest follow-up, 42% had occasional soiling, 12% had frequent soiling and 46% had no soiling. Constipation occurred in 9%. An associated syndrome was the only predictor for soiling or constipation (OR 4.3, 95% CI 1.5-12). 44% developed recurrent postoperative enterocolitis, which was predicted by extended aganglionosis (OR 6.9, 95% CI 2.4-20) and syndromatic disease (OR 2.4, 95% CI 1.2-5.0). CONCLUSION The major functional sequelae following TEPT were recurrent enterocolitis and fecal soiling, which was mostly occasional. An associated syndrome was a predictor of a reduced bowel functional outcome, and alongside extended aganglionosis were significant risk factors for recurrent postoperative enterocolitis.

Bowel Function and Quality of Life After Transanal Endorectal Pull-through for Hirschsprung Disease: Controlled Outcomes up to Adulthood.

OBJECTIVE The aim of this study was to define controlled outcomes up to adulthood for bowel function and quality of life (QoL) after transanal endorectal pull-through (TEPT) for Hirschsprung disease (HD). SUMMARY OF BACKGROUND DATA Although TEPT is the surgical standard for HD, controlled long-term follow-up studies evaluating bowel function and QoL are lacking. METHODS Patients aged ≥4 years operated for HD with TEPT between 1987 and 2011 answered detailed questionnaires on bowel function and QoL [Pediatric Quality of Life Inventory (PedsQL, age <18 yrs) or Gastrointestinal Quality of Life Index (GIQLI) and SF-36]. Patients were compared with 3 age- and gender-matched controls each randomly selected from the general population. RESULTS Seventy-nine patients (64%) responded (median age 15, range 4-32 years; 86% rectosigmoid aganglionosis). Compared with controls, patients reported impairment of all aspects of fecal control (P < 0.05), except constipation. In cross-section, 75% of patients were socially continent (vs 98% of controls; P < 0.001). Soiling, fecal accidents, rectal sensation, and ability to withhold defecation improved with age to levels comparable to controls by adulthood (P = NS), but stooling frequency remained higher in 44% of patients (P < 0.05 vs controls). PedsQL domains in childhood were equal to controls (P = NS), except for proxy-reports of sadness/depression. Adults exhibited lower emotional scores, limitation of personal, and sexual relationships (P < 0.05). CONCLUSION Compared with matched peers, significant impairment of fecal control prevails after TEPT in HD patients during childhood, but symptoms diminish with age. Although overall QoL appeared comparable to controls, impairment of emotional and sexual domains may prevail in adulthood.Objective: The aim of this study was to define controlled outcomes up to adulthood for bowel function and quality of life (QoL) after transanal endorectal pull-through (TEPT) for Hirschsprung disease (HD). Summary of Background Data: Although TEPT is the surgical standard for HD, controlled long-term follow-up studies evaluating bowel function and QoL are lacking. Methods: Patients aged ≥4 years operated for HD with TEPT between 1987 and 2011 answered detailed questionnaires on bowel function and QoL [Pediatric Quality of Life Inventory (PedsQL, age <18 yrs) or Gastrointestinal Quality of Life Index (GIQLI) and SF-36]. Patients were compared with 3 age- and gender-matched controls each randomly selected from the general population. Results: Seventy-nine patients (64%) responded (median age 15, range 4–32 years; 86% rectosigmoid aganglionosis). Compared with controls, patients reported impairment of all aspects of fecal control (P < 0.05), except constipation. In cross-section, 75% of patients were socially continent (vs 98% of controls; P < 0.001). Soiling, fecal accidents, rectal sensation, and ability to withhold defecation improved with age to levels comparable to controls by adulthood (P = NS), but stooling frequency remained higher in 44% of patients (P < 0.05 vs controls). PedsQL domains in childhood were equal to controls (P = NS), except for proxy-reports of sadness/depression. Adults exhibited lower emotional scores, limitation of personal, and sexual relationships (P < 0.05). Conclusion: Compared with matched peers, significant impairment of fecal control prevails after TEPT in HD patients during childhood, but symptoms diminish with age. Although overall QoL appeared comparable to controls, impairment of emotional and sexual domains may prevail in adulthood.

Lower Urinary Tract Symptoms from Childhood to Adulthood: A Population Based Study of 594 Finnish Individuals 4 to 26 Years Old

PURPOSE We evaluated voiding habits and lower urinary tract symptoms by age and gender in a large population of individuals from childhood to adulthood. MATERIALS AND METHODS We studied a cross-sectional sample of 594 individuals 4 to 26 years old randomly selected from the population register of Finland. Participants anonymously answered a detailed postal questionnaire on lower urinary tract symptoms. Parents assisted respondents younger than 16 years. Results were analyzed by age group (4 to 7, 8 to 12, 13 to 17 and 18 to 26 years) and gender. A p value of less than 0.05 was considered statistically significant. RESULTS The prevalence of urge incontinence significantly decreased with age (45% in respondents 4 to 7 years vs 10% in respondents 13 to 17 years, p <0.05). Urinary tract infections and urge and stress incontinence were more common in females (16% to 32%) than in males (2% to 4%) older than 12 years (p <0.05). The occurrence of some type of minor daytime urinary incontinence was reported by approximately a fourth of the study population, with a significant decline in prevalence between ages 4 to 7 years and 8 to 12 years (p <0.05). Minor urinary incontinence was significantly more common in females older than 12 years. Frequent urinary incontinence affected only 4% of respondents, most of whom were younger than 12 years. CONCLUSIONS Bladder control and urinary function exhibit considerable variation with age and gender. Due to the imperfections in bladder control in the general population, the evaluation of urinary tract disorders and outcomes of surgery in children and adolescents should be conducted with reference to control data according to age and gender.

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.

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.

Bowel functional outcomes in females with perineal or vestibular fistula treated with anterior sagittal anorectoplasty: controlled results into adulthood.

BACKGROUND: Anterior sagittal anorectoplasty is a standardized operative treatment for females with congenital rectoperineal or vestibular fistula. The controlled, long-term outcomes require characterization. OBJECTIVE: The aim of this study was to define the bowel functional outcomes following anterior sagittal anorectoplasty in relation to age- and sex-matched controls. DESIGN: This cross-sectional study was conducted at a single institution. PATIENTS: All females treated for congenital perineal or vestibular fistula with anterior sagittal anorectoplasty between 1983 and 2006 were invited to answer a detailed, previously validated questionnaire on bowel function. Each patient was matched to 3 controls who had answered identical questionnaires. 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. SETTING: This study was conducted at the Hospital for Children and Adolescents, University of Helsinki, Finland. INTERVENTIONS: No interventions were performed. MAIN OUTCOME MEASURES: The primary outcomes measured were the prevalence of problems with rectal sensation, voluntary bowel control, soiling, fecal accidents, constipation, and social problems. Bowel function score (out of 20 items) was considered, as well as the age at completion of toilet training for stool. RESULTS: Of 34 respondents (79%; median age, 13 (4–28) years), all had voluntary bowel movements. Problems withholding defecation, soiling, and fecal accidents were significantly more common among patients than controls (p ⩽ 0.001). Eighty-five percent of patients and 100% of controls (p = 0.001) were socially continent; 41% of patients and 76% of controls were totally continent (p = 0.0003). Constipation tended to decline with age (from 59% to 25%; p = 0.16). The bowel functional outcome was good in 68% of patients, satisfactory in 26% of patients, and poor in 6% of patients. Diapers for stool had been discontinued at the same median age as controls. LIMITATIONS: Number of patients in comparative analysis of symptoms by age group. CONCLUSIONS: After anterior sagittal anorectoplasty for perineal or vestibular fistula, 2 of 3 of patients are likely to achieve bowel control comparable to normal in the long term, and the vast majority will be socially continent. The effective treatment of constipation is essential.

Bowel function and lower urinary tract symptoms in females with anterior anus treated conservatively: Controlled outcomes into adulthood

PURPOSE Anterior anus (AA) is a low type of anorectal malformation that is seen exclusively in females, characterized by an essentially normal appearing anus in an abnormally anterior position. In AA, the anal canal is located mostly within the voluntary sphincter complex, differentiating it from a perineal fistula in females, and allowing for a nonoperative approach to management. This study aimed to characterize the controlled, long-term bowel functional outcomes and lower urinary tract symptoms (LUTS) in females with conservatively treated anterior anus. METHODS A single-institution, cross-sectional study. All females treated conservatively for AA between 1983 and 2006 were invited to answer a postal questionnaire on bowel function and lower urinary tract symptoms. Each patient was matched by age and gender to 3 controls that had answered the same questionnaire. Ethical approval was obtained. RESULTS Among 45 respondents (67%; median age 10.2 (4-20) years), fecal continence was comparable to controls overall (p=NS). Constipation affected a significantly higher proportion patients (36%) than controls (13%; p=0.002) and tended to decline with age. Outcomes by bowel function score were good/normal in 93%, satisfactory in 7% and poor in none. Lower urinary tract symptoms and age at toilet training were comparable to controls (p=NS). CONCLUSIONS Up to adulthood, long-term bowel functional outcomes comparable to matched peers can be achieved in nearly all of females with AA with conservative management alone, provided that effective control of constipation is achieved. The prevalence of LUTS is comparable to controls, and toilet training can be expected to occur at the normal age.

Spinal cord anomalies in patients with anorectal malformations without severe sacral abnormalities or meningomyelocele: outcomes after expectant, conservative management

OBJECTIVE The goal of this study was to determine the significance of spinal cord anomalies (SCAs) in patients with anorectal malformations (ARMs) by comparing the outcomes for bowel function, lower urinary tract symptoms (LUTS), and lower-limb neurological abnormalities to these outcomes in patients with similar ARMs and a normal spinal cord. METHODS The spinal cord MRI records of female patients treated for vestibular and perineal fistula (VF/PF) and male patients with rectourethral fistula (RUF) at a single center between 1983 and 2006 were reviewed. Bowel function and LUTS were assessed by questionnaire. Patients with extensive sacral anomalies or meningomyelocele were excluded. RESULTS Of 89 patients (median age 15 years, range 5-29 years), MRI was available in 90% (n = 80; 40 male patients with RUF), and 80% of patients returned the questionnaire (n = 64; 31 male patients with RUF). Spinal cord anomalies were found in 34%, comprising a filum terminale lipoma in 30%, low conus medullaris in 10%, and thoracolumbar syrinx in 6%. Bowel functional outcomes between patients with SCAs (n = 23) and those with a normal spinal cord (n = 41) were not significantly different for soiling (70% vs 63%), fecal accidents (43% vs 34%), and constipation (57% vs 39%; p = not significant for all). The LUTS, including urge (65% vs 54%), urge incontinence (39% vs 24%), stress incontinence (17% vs 22%), and straining (32% vs 29%) were also comparable between groups (p = not significant for all). No patients developed lower-limb neurological abnormalities. CONCLUSIONS The results suggest that the long-term functional outcomes for patients with SCAs who had VF/PF and RUF may not differ significantly from patients with the same type of ARMs and a normal spinal cord. The results favor a conservative approach to their management in the absence of abnormal neurological findings in the lower limbs.

Manometric findings in relation to functional outcomes in different types of anorectal malformations

AIMS To compare anorectal manometry (AM) in patients with different types of anorectal malformations (ARMs) in relation to functional outcomes. METHODS A single-institution, cross-sectional study. After ethical approval, all patients ≥7years old treated for anterior anus (AA), perineal fistula (PF), vestibular fistula (VF), or rectourethral fistula (RUF) from 1983 onwards were invited to answer the Rintala bowel function score (BFS) questionnaire and to attend anorectal manometry (AM). Patients with mild ARMs (AA females and PF males) had been treated with minimally invasive perineal procedures. Females with VF/PF and males with RUF had undergone internal-sphincter saving sagittal repairs. RESULTS 55 of 132 respondents (42%; median age 12 (7-29) years; 42% male) underwent AM. Patients with mild ARMs displayed good anorectal function after minimally invasive treatments. The median anal resting and squeeze pressures among patients with mild ARMs (60 cm H2O and 116 cm H2O respectively) were significantly higher than among patients with more severe ARMs (50 cm H2O, and 80cm H2O respectively; p≤0.002). The rectoanal inhibitory reflex was preserved in 100% of mild ARMs and 83% of patients with more severe malformations after IAS-saving sagittal repair. The functional outcome was poor in 4/5 patients with an absent RAIR (BFS≤11 or antegrade continence enema-dependence). Rectal sensation correlated significantly with the BFS. CONCLUSIONS Our findings support the appropriateness of our minimally invasive approaches to the management of mild ARMs, and IAS-saving anatomical repairs for patients with more severe malformations. LEVEL OF EVIDENCE III.

Controlled Outcomes for Achievement of Urinary Continence among Boys Treated for Posterior Urethral Valves

PURPOSE We evaluated the age at which boys with a history of posterior urethral valves after no or minimal anticholinergic medication achieve urinary continence and the factors contributing to continence. MATERIALS AND METHODS We reviewed the hospital records of all males treated for posterior urethral valves at a single institution between 1990 and 2008. Continence was considered to have been attained if no weekly wetting episodes occurred. We evaluated the influence of patient characteristics, including reduced kidney function and primary ring type ureteral stoma, on age at which continence was achieved. RESULTS A total of 76 patients were assessed. Achievement of daytime and nighttime urinary continence was markedly delayed in patients (mean ± SD age 5.5 ± 3.3 years and 5.4 ± 3.0 years, respectively) compared to the reference population (2.3 ± 0.5 and 2.9 ± 1.2, p <0.001). Increased serum creatinine levels at age 5 years were associated with later daytime and nighttime continence (mean ± SD 6.0 ± 3.2 and 5.5 ± 2.6 years, respectively, vs 4.1 ± 2.3 and 3.7 ± 1.4 years, respectively, in patients with normal serum creatinine, p ≤0.05). Prenatal or neonatal diagnosis of posterior urethral valves was associated with significantly delayed achievement of daytime continence compared to cases diagnosed later (mean ± SD 5.9 ± 3.6 vs 4.1 ± 1.8 years, p = 0.02). Patients with high nadir serum creatinine and vesicoureteral reflux initially also were at increased risk for urinary tract infections (p = 0.003 and p <0.001, respectively). CONCLUSIONS Patients with posterior urethral valves achieve daytime and nighttime urinary continence significantly later than their healthy peers. Prenatal or neonatal diagnosis and high serum creatinine are associated with later attainment of continence.