-
Pediatric Surgery International Feb 2024Hirschsprung's disease (HD) may result in an impaired quality of life (QoL) due to bowel problems, postoperative complications and other health-related issues. The...
BACKGROUND
Hirschsprung's disease (HD) may result in an impaired quality of life (QoL) due to bowel problems, postoperative complications and other health-related issues. The Hirschsprung and Anorectal Malformation Quality of Life (HAQL) questionnaire is a disease-specific instrument developed in the Netherlands to measure the QoL in patients with HD and anorectal malformations. The aim of this study was to translate, culturally adapt and validate HAQL in a Danish Hirschsprung population.
MATERIAL AND METHODS
Translation and cultural adaptation were performed according to international guidelines. Invitations to participate in the validation were sent to 401 patients operated for HD during the period from 1985 to 2012. A total of 156 patients completed the translated and culturally adapted Danish versions of HAQL and 35 parents of children and adolescents completed the corresponding parent questionnaire. Reliability was evaluated in terms of internal consistency using Cronbach's α and test-retest reliability using Intraclass Correlation Coefficient for the retest step. Known groups comparison was performed with comparison of mild HD (defined as recto-sigmoidal HD) and serious HD (defined as more proximal disease).
RESULTS
The internal consistency of the dimensions was overall satisfactory for adults and adolescents but more problematic for children, where Cronbach's α was less than 0.7 in 60% of the dimensions. For both children and adolescents, the α-value was unsatisfactory for social functioning, emotional functioning, and body image. The test-retest reliability was overall good. The known groups comparison was only able to demonstrate a significant difference between mild and severe HD within one dimension.
CONCLUSIONS
The translated version of the HAQL questionnaires provides an overall reliable instrument for evaluating disease-specific QoL in a Danish HD population, but it is important to acknowledge the limitations of the questionnaire, especially in children and adolescents.
Topics: Adult; Child; Adolescent; Humans; Quality of Life; Anorectal Malformations; Reproducibility of Results; Surveys and Questionnaires; Hirschsprung Disease; Denmark
PubMed: 38334791
DOI: 10.1007/s00383-024-05634-y -
Archives of Disease in Childhood Jun 2024Children with anorectal malformation (ARM) and Hirschsprung's disease (HD) often experience bowel symptoms into adulthood, despite definitive surgery. This study... (Comparative Study)
Comparative Study
PURPOSE
Children with anorectal malformation (ARM) and Hirschsprung's disease (HD) often experience bowel symptoms into adulthood, despite definitive surgery. This study evaluates the quality of life (QOL) and bowel functional outcome of children treated for ARM and HD in comparison to healthy controls.
METHODS
Between December 2020 and February 2023, we recruited patients with ARM and HD aged 3-17 years at four tertiary referral centres, who had primary corrective surgery done >12 months prior. Healthy controls were age-matched and sex-matched. All participants completed the Pediatric Quality of Life Inventory Generic Core Scales 4.0, General Well-Being (GWB) Scale 3.0 and Family Impact (FI) Module 2.0 Questionnaires. Bowel Function Score (BFS) Questionnaires were also administered. We also performed subgroup analysis according to age categories. Appropriate statistical analysis was performed with p<0.05 significance. Ethical approval was obtained.
RESULTS
There were 306 participants: 101 ARM, 87 HD, 118 controls. Patients with ARM and HD had significantly worse Core and FI Scores compared with controls overall and in all age categories. In the GWB Scale, only ARM and HD adolescents (13-17 years) had worse scores than controls. ARM and HD had significantly worse BFSs compared with controls overall and in all age categories. There was significant positive correlation between BFS and Core Scores, GWB Scores and FI Scores.
CONCLUSION
Patients with ARM and HD had worse QOL than controls. Lower GWB Scores in adolescents suggests targeted interventions are necessary. Bowel function influences QOL, indicating the need for continuous support into adulthood.
Topics: Humans; Hirschsprung Disease; Quality of Life; Male; Female; Adolescent; Child; Anorectal Malformations; Cross-Sectional Studies; Child, Preschool; Case-Control Studies; Surveys and Questionnaires
PubMed: 38649254
DOI: 10.1136/archdischild-2023-326724 -
Frontiers in Pediatrics 2023Prone cross-table lateral x-ray (CTLxR) and colostogram aid surgical planning for anorectal malformations (ARMs) without perineal fistulas. We suggest objective imaging...
PURPOSE
Prone cross-table lateral x-ray (CTLxR) and colostogram aid surgical planning for anorectal malformations (ARMs) without perineal fistulas. We suggest objective imaging tools to classify ARMs.
METHODS
Three observers prospectively evaluated CTLxR and colostograms of male ARM patients (2012-2022) without perineal fistulas. The level of the rectal pouch was estimated with pubococcygeal (PC) and ischiatic (I) lines. On CTLxR, we described the "pigeon sign", defined as the rectal pouch ending with a beak-like image, suspicious for a rectourinary fistula. ARM was defined as rectobulbar when the rectal pouch was below the I line, rectoprostatic when between PC and I lines, and rectovesical when above the PC line. Concordance was assessed with Fleiss' kappa. Sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) of the "pigeon sign" were calculated.
RESULTS
Thirteen patients were included in this study. The interobserver agreement on CTLxR was 69.2% ( = 0.54) on pouch ending, 84.6% ( = 0.69) on the "pigeon sign", and 76.9% ( = 0.69) on diagnosis; concordance between observers and intraoperative diagnosis was 66.6% ( = 0.56). The "pigeon sign" had 75% sensitivity, 100% specificity, 100% PPV, and 50% NPV. The interobserver agreement on colostograms was 84.6% ( = 0.77) on pouch ending and 89.7% ( = 0.86) on diagnosis; concordance between observers and intraoperative diagnosis was 92.3% ( = 0.90).
CONCLUSION
PC and I lines and the "pigeon sign" are useful tools in examining CTLxR and colostograms. Adequate CTLxR interpretation may modify surgical strategy.
PubMed: 37609362
DOI: 10.3389/fped.2023.1224620 -
Journal of Pediatric and Adolescent... Apr 2024To compare the anatomic variation between patients with a diagnosis of an obstructed hemivagina with an anorectal malformation (ARM) and those without an ARM.
STUDY OBJECTIVE
To compare the anatomic variation between patients with a diagnosis of an obstructed hemivagina with an anorectal malformation (ARM) and those without an ARM.
METHODS
This was a retrospective chart review conducted at a single tertiary children's hospital. Patients with an obstructed hemivagina seen from 2004 to 2019 were included.
RESULTS
We identified a total of 9 patients diagnosed with an obstructed hemivagina: 4 patients with a history of ARM and 5 patients without an ARM. Patients presented with obstructive symptoms between the ages of 11 and 20. Two-thirds of patients had a left-sided obstruction. All patients without an ARM had ipsilateral congenital anomalies of the kidney and urinary tract. Half the patients with a history of ARM had an ipsilateral renal anomaly, and the other half had a contralateral renal anomaly.
CONCLUSION
Obstructed hemivagina occurs in patients with a history of ARM. However, unlike patients with isolated obstructed hemivagina and ipsilateral renal anomaly (OHVIRA), patients with an ARM and an obstructed hemivagina can present with associated renal anomalies on either the ipsilateral or contralateral side. In our small case series, patients with a history of ARM had high septa and required more complex surgical management due to the inability to access the septum vaginally. Knowledge of renal anatomy and ureteral path is important because a hysterectomy may be needed to relieve the obstruction in patients with ARMs. A larger case series is needed to better characterize the spectrum of complex anomalies in patients with ARMs.
Topics: Child; Female; Humans; Adolescent; Young Adult; Adult; Anorectal Malformations; Uterus; Vagina; Retrospective Studies; Kidney Diseases; Kidney
PubMed: 38122961
DOI: 10.1016/j.jpag.2023.12.004 -
Cureus Dec 2023The present study aimed to review the treatment experience and outcomes of Currarino syndrome (CS) complicated with anorectal stenosis to evaluate the current treatment...
PURPOSE
The present study aimed to review the treatment experience and outcomes of Currarino syndrome (CS) complicated with anorectal stenosis to evaluate the current treatment strategies.
METHODS
Seven cases of CS complicated with anorectal stenosis, treated at our hospital between 1998 and 2021, were retrospectively investigated. This is a case series article from a single institution.
RESULTS
In six and three cases and one case, the presacral mass was a mature teratoma, meningocele, and lipoma, respectively. Resection of the lesion was performed in all six cases of mature teratoma, and duraplasty was performed before resection in all three cases of meningocele. Moreover, surgery for anorectal stenosis was performed simultaneously in four patients. Surgery was performed for six cases of anorectal stenosis, with the remaining case relieved by dilation using a metal bougie. The surgical methods used were a partial resection with end-to-end anastomosis, anorectal strictureplasty, pull-through, posterior sagittal anorectoplasty, and cutback after mass resection. Pathological analysis of the anorectal stenoses revealed disorganized and rough smooth muscle fibers and the replacement of the stroma by an increased quantity of collagen fibers.
CONCLUSIONS
The clinical outcomes of CS can be improved by establishing a treatment flow chart and understanding the complicated pathophysiology of the disease.
PubMed: 38226073
DOI: 10.7759/cureus.50512 -
Journal of Pediatric Surgery Aug 2023This study sought to characterize sexual function and fecal incontinence related quality of life (QOL) outcomes for adult males with anorectal malformation (ARM) or...
BACKGROUND
This study sought to characterize sexual function and fecal incontinence related quality of life (QOL) outcomes for adult males with anorectal malformation (ARM) or Hirschsprung's Disease (HD).
METHODS
We conducted a cross-sectional survey study of male patients ≥18 years with ARM or HD. Patients were identified from our institutional database, contacted and consented by telephone, and sent a REDCap survey via email. The International Index of Erectile Function (IIEF-5) and Male Sexual Health Questionnaire (MSHQ) evaluated erectile dysfunction (ED) and ejaculatory dysfunction (EjD), respectively. The Cleveland Clinic Incontinence Score (CCIS) and the Fecal Incontinence Quality of Life Scale (FIQLS) assessed fecal incontinence-related outcomes. A linear regression analysis of IIEF-5 scores compared to CCIS scores was used to evaluate for an association between ED and incontinence.
RESULTS
Of 63 patients contacted, 48 completed the survey. The median age for respondents was 22.5 years (IQR 20-25). There were 19 patients with HD and 29 patients with ARM. On the IIEF-5 survey, 35.3% report some level of ED. On the MSHQ-EjD survey, the median score was 14 out of 15 (IQR 10.75-15), indicating few EjD concerns. The median CCIS was 5 (IQR 2.25-7.75) and the median FIQL scores ranged from 2.7 to 3.5 depending on the domain assessed, demonstrating some QOL challenges secondary to fecal incontinence. On linear regression analysis, IIEF-5 and CCIS scores were weakly associated (B = -0.55, p = 0.045).
CONCLUSIONS
Male adult patients with ARM or HD may have ongoing concerns with sexual function and fecal incontinence.
LEVEL OF EVIDENCE
Level 4.
TYPE OF STUDY
Cross-Sectional Survey Study.
Topics: Humans; Male; Adult; Young Adult; Fecal Incontinence; Anorectal Malformations; Quality of Life; Hirschsprung Disease; Cross-Sectional Studies; Surveys and Questionnaires
PubMed: 37221125
DOI: 10.1016/j.jpedsurg.2023.04.006 -
Journal of Pediatric Surgery Apr 2024Assessment of postoperative bowel function in anorectal malformation (ARM) patients is crucial for benchmarking outcomes. We compared existing bowel function scoring...
BACKGROUND
Assessment of postoperative bowel function in anorectal malformation (ARM) patients is crucial for benchmarking outcomes. We compared existing bowel function scoring systems in various aspects in patients with ARM.
METHODS
With ethical approval, this was a cross-sectional study involving 5 paediatric surgery referral centres in Malaysia, comparing the Kelly, Japanese Study Group of Anorectal Anomalies (JSGA), Holschneider and Krickenbeck bowel function questionnaires. We recruited patients aged 4-17 years, who had completed definitive surgery & stoma closure (where relevant) > 12 months prior to participation. We standardised outcomes of each scoring system into categories ('good', 'fair', 'poor' and 'very poor') to facilitate comparison. Parents & patients were surveyed and asked to rate the ease of understanding of each questionnaire. The difference in protocol scores rated between parents and patients were compared. Association of each bowel function scoring protocol with type of anomaly was assessed. Statistical significance was p < 0.05.
RESULTS
Thirty-nine parents (21 mothers, 18 fathers) and 23 patients were included in this study. Fair agreement was found between Kelly and Krickenbeck protocols (κ = 0.343; p < 0.001), between JSGA constipation and Holschneider protocols (κ = 0.276; p = 0.002); JSGA constipation and Krickenbeck protocols (κ = 0.256; p = 0.004); and between Holschneider and Krickenbeck protocols (κ = 0.273; p = 0.003). Only the Kelly protocol showed significant correlation between parents and patients' answers (ρ = 0.459, p = 0.028). Krickenbeck demonstrated the best negative correlation of patients' scores with ARM types (ρ = -0.401, p = 0.001). The Kelly protocol ranked highest when comparing ease of understanding.
CONCLUSION
All the questionnaires appeared comparable in assessing postoperative faecal continence in ARM patients. The Kelly questionnaire performed best in 3 key areas of assessment.
LEVEL OF EVIDENCE
Level III Cross-Sectional Study.
Topics: Child; Humans; Anorectal Malformations; Rectum; Defecation; Anal Canal; Cross-Sectional Studies; Fecal Incontinence; Constipation
PubMed: 38160189
DOI: 10.1016/j.jpedsurg.2023.12.002 -
Journal of Pediatric Surgery Feb 2024Controlled outcomes into adulthood for females with anorectal malformation (ARM) are still scantily studied. The primary aim was to investigate bowel function, bladder...
BACKGROUND
Controlled outcomes into adulthood for females with anorectal malformation (ARM) are still scantily studied. The primary aim was to investigate bowel function, bladder function and health-related quality of life (HRQoL) in females operated for ARM.
METHODS
A cross-sectional questionnaire-based observational study was performed including females treated for ARM at our institution between 1994 and 2017. The bowel function was assessed with bowel function score (BFS) and urinary tract function with lower urinary tract symptoms (LUTS) questionnaires. HRQoL was investigated with validated age-dependent questionnaires. Patient characteristics were retrospectively retrieved from the medical records and descriptive statistics were used for analysis. HRQoL outcomes were compared with normative data whilst bowel and bladder function outcomes were compared to age-matched female controls.
RESULTS
Forty-four (41.5 %) of 106 females responded to the questionnaires. Ten of 29 patients (34.5 %) aged 4-17 years and 4 of 14 patients (28.6%) aged ≥18 years, reported a well-preserved bowel function (BFS≥17). Constipation issues decreased with age. BFS was similar in patients with perineal and vestibular fistulas. Thirty-six (83.7%) of the patients had at least one LUTS. No adult patients had issues with involuntary urinary leakage. Adults scored significantly (p = 0.004) lower than normative data regarding HRQoL, while children and adolescents scored comparably to norm data.
CONCLUSIONS
Only 28.6 % of the adult patients reported a well-preserved bowel function, similar to the proportion reported by children 4-17 years of age. Adult patients appear to have a diminished HRQoL, however the correlation with BFS was weak.
LEVEL OF EVIDENCE
III.
PubMed: 38443293
DOI: 10.1016/j.jpedsurg.2024.02.011 -
European Journal of Pediatrics Jan 2024Limited data on the survival of anorectal malformation (ARM) patients from lower- and middle-income countries is available. This retrospective population-based study...
Limited data on the survival of anorectal malformation (ARM) patients from lower- and middle-income countries is available. This retrospective population-based study from the State of Johor, Malaysia, determines the incidence, mortality rate, and survival of ARM patients and factors associated with mortality. Kaplan-Meier survival analysis was used to estimate the survival of ARM patients at 1, 5, and 10 years. In addition, multivariate Cox regression analysis was used to analyze mortality-related factors. There were 175 ARM patients among 803,850 live births, giving an overall ARM incidence of 2.2 (95% confidence interval [CI], 1.9 to 2.5) per 10,000 live births. The male-to-female ratio was 1.5:1. There were 122 (69%) non-isolated ARM, of which 41 were Trisomy-21 and 34 had VACTERL association. Seventy-three (42%) had congenital heart disease (CHD), with 38 severe and 35 non-severe CHD. Overall, 33 (19%) patients died, with a median age of death of 5.7 months (interquartile range (IQR) 25 days to 11.2 months). The overall estimated 1-, 5-, and 10-year survival rate for ARM patients was 82% (95% CI, 76-89%), 77% (95% CI, 70-84%), and 77% (95% CI, 70-84%), respectively. Univariate analysis shows that non-isolated ARM, VACTERL association, and severe CHD were associated with mortality. However, only severe CHD is the independent factor associated with mortality, with a hazard ratio of 4.0 (95% CI, 1.9-8.4). Conclusion: CHD is common among ARM patients, and one in five ARM patients had a severe cardiac defect, significantly affecting their survival. What is Known: • VACTERL association and congenital heart disease are common in patient with anorectal malformation. • Low birth weight and prematurity are associated with a lower rate of survival. What is New: • Congenital heart disease is common in ARM patients in a middle-income country. • Severe congenital heart disease plays a significant role in the survival of patients with an anorectal malformation in lower- and middle-income countries.
Topics: Infant; Humans; Male; Female; Infant, Newborn; Retrospective Studies; Anorectal Malformations; Heart Defects, Congenital; Limb Deformities, Congenital; Spine; Esophagus; Kidney; Trachea; Anal Canal
PubMed: 37870607
DOI: 10.1007/s00431-023-05292-7 -
Cureus Nov 2023To the best of our knowledge, this is the first reported case of a recurrent presacral tumor in Currarino syndrome. Currarino syndrome is a rare disease usually found in...
To the best of our knowledge, this is the first reported case of a recurrent presacral tumor in Currarino syndrome. Currarino syndrome is a rare disease usually found in childhood with a triad of sacral agenesis, anorectal malformation, and presacral tumor. However, it can often remain undiscovered until adulthood. Currarino syndrome is generally diagnosed during childhood in the setting of recurrent meningitis and is often suspected when there is a family history. Occasionally, it is diagnosed in adulthood through incidental imaging or due to investigations for back pain and chronic constipation. MRI is the recommended imaging modality in this disease process, as it can better help differentiate soft tissue. The tumor can be resected through either the transabdominal approach or the posterior approach (Kraske procedure). We present a 52-year-old female patient who was diagnosed with Currarino syndrome when she was one year old due to recurrent meningitis and surgical resection of a presacral mass and was asymptomatic until she developed back pain and constipation. Her symptoms were investigated with an MRI, revealing a recurrence of a presacral tumor, and she subsequently underwent a Kraske procedure. The patient is currently under annual surveillance, and the residual tumor has remained stable. There are currently no surveillance guidelines after resection of a presacral tumor in Currarino Syndrome. However, follow-up surveillance should be considered.
PubMed: 38098935
DOI: 10.7759/cureus.48780