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Liang W, Cao S, Suo Y, Zhang L, Yang L, Wang H, Wang H, Jin X. How does a preference-based generic health-related quality of life measure perform in patients with a rare disease? Measurement properties of the EQ-5D-Y proxy version among underage patients with neurofibromatosis type 1. Orphanet J Rare Dis 2025; 20:71. [PMID: 39948669 PMCID: PMC11827137 DOI: 10.1186/s13023-025-03590-x] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/17/2024] [Accepted: 01/31/2025] [Indexed: 02/16/2025] Open
Abstract
BACKGROUND EQ-5D-Y is a pediatric preference-based health-related quality of life (HRQL) measure that is recommended in health economic evaluation according to China's guidelines. However, there is limited evidence regarding how the EQ-5D-Y perform in patients with rare diseases in the country. Neurofibromatosis type 1 (NF1) is a rare disease that affects the growth and development of underage patients. This study aimed to examine the performance of EQ-5D-Y proxy version among underage NF1 patients in China. METHODS Data from a nationwide cross-sectional survey from Nov 2022 to Jan 2023 was used. A total of 154 caregivers for underage NF1 patients who completed the EQ-5D-Y proxy version, PedsQL 4.0 Generic Core Scales (PedsQL GCS) proxy version, and Zarit Burden Interview (ZBI-22) were included. The performance of the EQ-5D-Y was assessed by response pattern (ceiling and floor effects), convergent validity against the PedsQL GCS, known-groups validity, and Shannon (H') and Shannon evenness (J') indices. RESULT Data from 154 caregivers were analyzed. The mean age of caregivers was 38.23 (6.02) years, and 78.57% of them were mothers of NF1 patients. The mean age of NF1 patients was 8.38 (3.34) years, with 51.30% being females. The ceiling effect of EQ-5D-Y was 30.52%, and floor effect was 0%. Moderate to strong correlations were found between EQ-5D-Y and PedsQL GCS dimensions that share similar constructs (rho - 0.42 to -0.60, all p values < 0.001). The hypotheses of known-groups defined by different PedsQL GCS and ZBI scores were validated. The EQ-5D-Y exhibited the strongest informativity and discriminatory power of the "feeling worried, sad or unhappy" dimension and weakest for the "mobility" dimension (H'(mobility) = 0.60, J'(mobility) = 0.38; H'(feeling worried, sad or unhappy) = 1.23, J'(feeling worried, sad or unhappy) = 0.78). CONCLUSIONS EQ-5D-Y is acceptable for measuring HRQL of underage NF1 patients in China. More evidence for using EQ-5D-Y in rare diseases is awaited.
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Affiliation(s)
- Wanxian Liang
- Center for Evidence-Based Chinese Medicine, School of Traditional Chinese Medicine, Beijing University of Chinese Medicine, Beijing, China
- International Institute of Evidence-Based Traditional Chinese Medicine, Beijing University of Chinese Medicine, Beijing, China
| | - Shihuan Cao
- Center for Evidence-Based Chinese Medicine, School of Traditional Chinese Medicine, Beijing University of Chinese Medicine, Beijing, China
- International Institute of Evidence-Based Traditional Chinese Medicine, Beijing University of Chinese Medicine, Beijing, China
| | - Yusi Suo
- Center for Evidence-Based Chinese Medicine, School of Traditional Chinese Medicine, Beijing University of Chinese Medicine, Beijing, China
- International Institute of Evidence-Based Traditional Chinese Medicine, Beijing University of Chinese Medicine, Beijing, China
| | - Lining Zhang
- Center for Evidence-Based Chinese Medicine, School of Traditional Chinese Medicine, Beijing University of Chinese Medicine, Beijing, China
- International Institute of Evidence-Based Traditional Chinese Medicine, Beijing University of Chinese Medicine, Beijing, China
| | - Lujia Yang
- Center for Evidence-Based Chinese Medicine, School of Traditional Chinese Medicine, Beijing University of Chinese Medicine, Beijing, China
- International Institute of Evidence-Based Traditional Chinese Medicine, Beijing University of Chinese Medicine, Beijing, China
| | - Hanfei Wang
- Center for Evidence-Based Chinese Medicine, School of Traditional Chinese Medicine, Beijing University of Chinese Medicine, Beijing, China
- International Institute of Evidence-Based Traditional Chinese Medicine, Beijing University of Chinese Medicine, Beijing, China
| | - Han Wang
- Center for Evidence-Based Chinese Medicine, School of Traditional Chinese Medicine, Beijing University of Chinese Medicine, Beijing, China
- International Institute of Evidence-Based Traditional Chinese Medicine, Beijing University of Chinese Medicine, Beijing, China
| | - Xuejing Jin
- Center for Evidence-Based Chinese Medicine, School of Traditional Chinese Medicine, Beijing University of Chinese Medicine, Beijing, China.
- International Institute of Evidence-Based Traditional Chinese Medicine, Beijing University of Chinese Medicine, Beijing, China.
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Bhandarkar K, De Coppi P, Cross K, Blackburn S, Curry J. Long-Term Functional Outcomes and Multidisciplinary Management after Ileorectal Duhamel Pull-Through for Total Colonic Aganglionosis-20-Year Experience in a Tertiary Surgical Center. Eur J Pediatr Surg 2024; 34:423-429. [PMID: 37748721 DOI: 10.1055/a-2181-2065] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 09/27/2023]
Abstract
INTRODUCTION Management of patients with total colonic aganglionosis (TCA) is challenging for pediatric surgeons. The purpose of this study was to review our institution's 20-year experience regarding long-term outcomes and multidisciplinary team management of these patients after an ileorectal Duhamel pull-through procedure. MATERIALS AND METHODS Retrospective review was conducted for all patients diagnosed with TCA in our tertiary institution. Data were collected on demographics, clinical presentation, complications, need for additional surgery, and long-term effects on bowel function. RESULTS Of a total of 202 patients with Hirschsprung's disease, 13 were diagnosed with TCA (6.4%). Clinical presentation was variable. Eleven presented in neonatal period with distal bowel obstruction and two presented with constipation in early infancy. Ileorectal Duhamel pull-through was performed in all patients. Median follow-up was 13 years. Eleven are toilet trained, of whom five are fully continent. Six continue to have problems with bowel continence or constipation. One developed recurrent episode of Hirschsprung's associated enterocolitis. Two patients had stoma re-established. Patients experiencing difficulties in bowel function are jointly managed by a multidisciplinary team consisting of surgeons, gastroenterologists, pediatric psychologists, and clinical nurse specialists. CONCLUSION TCA can be associated with significant long-term morbidity. Nearly half of the patients in this series have ongoing problems with bowel continence requiring a permanent stoma in some. Diligent follow-up coupled with inputs of a multidisciplinary team has greatly helped manage these complex patients in our institution.
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Affiliation(s)
- Kailas Bhandarkar
- Department of Paediatric Surgery, Great Ormond Street Hospital for Children, London, United Kingdom
| | - Paolo De Coppi
- Department of Paediatric Surgery, Great Ormond Street Hospital for Children, London, United Kingdom
| | - Kate Cross
- Department of Paediatric Surgery, Great Ormond Street Hospital for Children, London, United Kingdom
| | - Simon Blackburn
- Department of Paediatric Surgery, Great Ormond Street Hospital for Children, London, United Kingdom
| | - Joe Curry
- Department of Paediatric Surgery, Great Ormond Street Hospital for Children, London, United Kingdom
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Liang W, Cao S, Suo Y, Zhang L, Yang L, Wang P, Wang H, Wang H, Bai G, Li Q, Zheng J, Jin X. Long-term distress throughout one's life: health-related quality of life, economic and caregiver burden of patients with neurofibromatosis type 1 in China. Front Public Health 2024; 12:1398803. [PMID: 39234078 PMCID: PMC11371622 DOI: 10.3389/fpubh.2024.1398803] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/10/2024] [Accepted: 08/07/2024] [Indexed: 09/06/2024] Open
Abstract
Introduction Neurofibromatosis type 1 (NF1) is a rare genetic disorder, with lack of evidence of disease burden in China. We aimed to describe the economic burden, health-related quality of life (HRQL), and caregiver burden of NF1 patients in China. Methods We conducted an online cross-sectional survey employing the China Cloud Platform for Rare Diseases, with 223 caregivers of NF1 pediatric patients (patients under 18), and 226 adult patients. Economic burden was estimated using direct and indirect costs related to NF1 in 2021, and the Work Productivity and Activity Impairment Questionnaire: General Health V2.0 (WPAI-GH). HRQL measures included EQ-5D-Y proxy version and PedsQL™ 4.0 Generic Core Scales (PedsQL GCS) proxy version for pediatric patients, and EQ-5D-5L and PedsQL™ 3.0 Neurofibromatosis Module (PedsQL NFM) for adult patients. Caregiver burden was estimated by Zarit Burden Interview (ZBI). Results For pediatric patients, the average direct cost in 2021 was CNY 33,614 (USD 4,879), and employed caregivers' annual productivity loss was 81 days. EQ-5D-Y utility was 0.880 ± 0.13 and VAS score was 75.38 ± 20.67, with 52.6% patients reporting having problems in "pain/discomfort" and 42.9% in "anxiety/depression." PedsQL GCS total score was 68.47 ± 19.42. ZBI score demonstrated that 39.5% of caregivers had moderate-to-severe or severe burden. For adult patients, average direct cost in 2021 was CNY 24,531 (USD 3,560). Patients in employment reported an absenteeism of 8.5% and presenteeism of 21.6% according to the results of WPAI-GH. EQ-5D-5L utility was 0.843 ± 0.17 and VAS score was 72.32 ± 23.49, with more than half of patients reporting having problems in "pain/discomfort" and "anxiety/depression" dimensions. PedsQL NFM total score was 68.40 ± 15.57. Conclusion Both pediatric and adult NF1 patients in China had a wide-ranging economic burden and low HRQL, especially in the psychological dimension. Caregivers for NF1 pediatric patients experienced considerable caregiver burden. More attention and support from policymakers and stakeholders are required to relieve NF1 patients' and caregivers' distress.
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Affiliation(s)
- Wanxian Liang
- Centre for Evidence-Based Chinese Medicine, School of Traditional Chinese Medicine, Beijing University of Chinese Medicine, Beijing, China
- International Institute of Evidence-Based Traditional Chinese Medicine, School of Traditional Chinese Medicine, Beijing University of Chinese Medicine, Beijing, China
| | - Shihuan Cao
- Centre for Evidence-Based Chinese Medicine, School of Traditional Chinese Medicine, Beijing University of Chinese Medicine, Beijing, China
- International Institute of Evidence-Based Traditional Chinese Medicine, School of Traditional Chinese Medicine, Beijing University of Chinese Medicine, Beijing, China
| | - Yusi Suo
- Centre for Evidence-Based Chinese Medicine, School of Traditional Chinese Medicine, Beijing University of Chinese Medicine, Beijing, China
- International Institute of Evidence-Based Traditional Chinese Medicine, School of Traditional Chinese Medicine, Beijing University of Chinese Medicine, Beijing, China
| | - Lining Zhang
- Centre for Evidence-Based Chinese Medicine, School of Traditional Chinese Medicine, Beijing University of Chinese Medicine, Beijing, China
- International Institute of Evidence-Based Traditional Chinese Medicine, School of Traditional Chinese Medicine, Beijing University of Chinese Medicine, Beijing, China
| | - Lujia Yang
- Centre for Evidence-Based Chinese Medicine, School of Traditional Chinese Medicine, Beijing University of Chinese Medicine, Beijing, China
- International Institute of Evidence-Based Traditional Chinese Medicine, School of Traditional Chinese Medicine, Beijing University of Chinese Medicine, Beijing, China
| | - Ping Wang
- Centre for Evidence-Based Chinese Medicine, School of Traditional Chinese Medicine, Beijing University of Chinese Medicine, Beijing, China
- International Institute of Evidence-Based Traditional Chinese Medicine, School of Traditional Chinese Medicine, Beijing University of Chinese Medicine, Beijing, China
| | - Hanfei Wang
- Centre for Evidence-Based Chinese Medicine, School of Traditional Chinese Medicine, Beijing University of Chinese Medicine, Beijing, China
- International Institute of Evidence-Based Traditional Chinese Medicine, School of Traditional Chinese Medicine, Beijing University of Chinese Medicine, Beijing, China
| | - Han Wang
- Centre for Evidence-Based Chinese Medicine, School of Traditional Chinese Medicine, Beijing University of Chinese Medicine, Beijing, China
- International Institute of Evidence-Based Traditional Chinese Medicine, School of Traditional Chinese Medicine, Beijing University of Chinese Medicine, Beijing, China
| | - Guannan Bai
- Children's Hospital, Zhejiang University School of Medicine, National Children's Regional Medical Center, National Clinical Research Center for Child Health, Hangzhou, Zhejiang, China
| | - Qingnan Li
- China Alliance for Rare Diseases, Beijing, China
- Beijing Society of Rare Disease Clinical Care and Accessibility, Beijing, China
| | - Jiayin Zheng
- China Alliance for Rare Diseases, Beijing, China
- Beijing Society of Rare Disease Clinical Care and Accessibility, Beijing, China
| | - Xuejing Jin
- Centre for Evidence-Based Chinese Medicine, School of Traditional Chinese Medicine, Beijing University of Chinese Medicine, Beijing, China
- International Institute of Evidence-Based Traditional Chinese Medicine, School of Traditional Chinese Medicine, Beijing University of Chinese Medicine, Beijing, China
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Hameed RA, Hoel AT, Diseth TH, Bjørnland K, Gjone H. Mental Health, Psychosocial Functioning, and Quality of Life in Adolescents With Hirschsprung Disease. J Pediatr Surg 2024; 59:1037-1043. [PMID: 38369401 DOI: 10.1016/j.jpedsurg.2024.01.024] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 06/06/2023] [Revised: 01/10/2024] [Accepted: 01/22/2024] [Indexed: 02/20/2024]
Abstract
BACKGROUND Studies of mental health in adolescents with Hirschsprung disease (HD) are scarce. This cross-sectional study investigates mental health, psychosocial functioning and quality of life in HD adolescents. METHODS Adolescents (12-18 years) treated at the Department of pediatric surgery at Oslo University Hospital were invited for participation. Mental health was assessed by interview; Child Assessment Schedule (CAS) and questionnaires; parental Child Behavior Checklist (CBCL) and adolescent Youth Self-Report (YSR). Psychosocial functioning was rated by Child Global Assessment Scale (cGAS). Adolescent Quality of Life was assessed by Pediatric Quality of Life inventory (PedsQL) and chronic family difficulties (CFD) by interview. Medical records were reviewed for somatic history. RESULTS Thirty-seven adolescents, 28 males, median age 14.3 years, participated. By CAS interview, 8 of 37 (44% of females and 14% of males) fulfilled criteria for psychiatric diagnosis all within emotional and related disorders. Twenty-seven percent had CBCL internalizing scores and 16% had YSR internalizing scores in clinical range indicating emotional problems. By interviewer rated cGAS, 27% were scored in clinical range. By PedsQL 16% reported reduced psychosocial health score. Increased CFD, lower psychosocial functioning and reduced QoL as well as less paternal education were significantly associated with psychiatric diagnosis. Twice as many (4/8) adolescents who either had a stoma or bowel management had a psychiatric diagnosis compared to those who had neither stoma nor bowel management (7/28). CONCLUSION Nearly one in four adolescents with HD fulfilled criteria for psychiatric diagnosis. Mental health problems were associated with reduced psychosocial function and reduced QoL. LEVEL OF EVIDENCE III.
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Affiliation(s)
- Rania Adel Hameed
- Department of Child and Adolescent Mental Health in Hospitals, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway; Department of Child and Adolescent Psychiatry, Innlandet Hospital Trust, Gjøvik, Norway.
| | - Anders Telle Hoel
- Department of Pediatric Surgery, Oslo University Hospital, Oslo, Norway; Institute of Clinical Medicine, University of Oslo, Oslo, Norway
| | - Trond H Diseth
- Department of Child and Adolescent Mental Health in Hospitals, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway; Institute of Clinical Medicine, University of Oslo, Oslo, Norway
| | - Kristin Bjørnland
- Department of Pediatric Surgery, Oslo University Hospital, Oslo, Norway; Institute of Clinical Medicine, University of Oslo, Oslo, Norway
| | - Helene Gjone
- Department of Child and Adolescent Mental Health in Hospitals, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway
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Demirbağ S, Ergin D. Hospital quality of life for children: development of a new measurement tool for hospitalised children. J Res Nurs 2024; 29:32-42. [PMID: 38495322 PMCID: PMC10939021 DOI: 10.1177/17449871231222158] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 03/19/2024] Open
Abstract
Background Hospitalisation affects children's quality of life (QoL) regardless of illness, treatment and care. Aims The objective of this study was to create an instrument for evaluating QoL of hospitalised children aged 7 to 18 years. Methods Initially, 46 items for the preliminary Hospital Quality of Life for Children Scale (HQL-children) were developed through a combination of literature reviews and individual interviews. The study was conducted with 230 participants from a general paediatric ward of a hospital. Exploratory and confirmatory factor analyses were conducted to examine the construct, convergent and discriminant validities of the measure. Criterion validity was assessed by confirming split-half reliability, whereas reliability was established using Cronbach's alpha coefficient. Results The HQL-child scale consists of 17 items and the total variance is 51.14%. The scale is categorised into five sub-dimensions: illness, fear, activity, hospital and perception. The scale demonstrated construct, convergent and divergent validity, discriminant and split-half reliability, with Cronbach's alpha coefficient 0.75. Conclusions The scale is a promising instrument to determine children's perception by capturing their experiences on hospitalisation. Assessing the QoL in hospitalised children is crucial for enhancing patient satisfaction and facilitating the development of health policies based on patient self-reporting in Turkey.
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Affiliation(s)
- Selin Demirbağ
- Research Assistant, Department of Child Health and Disease Nursing, Faculty of Health Sciences, Manisa Celal Bayar University, Manisa, Turkey
| | - Dilek Ergin
- Professor, Department of Child Health and Disease Nursing, Faculty of Health Sciences, Manisa Celal Bayar University, Manisa, Turkey
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Bouwman FCM, Verhaak C, de Blaauw I, Kool LJS, Loo DMWMT, van Rooij IALM, van der Vleuten CJM, Botden SMBI, Verhoeven BH. Health-related quality of life in children with congenital vascular malformations. Eur J Pediatr 2023; 182:5067-5077. [PMID: 37665335 PMCID: PMC10640403 DOI: 10.1007/s00431-023-05166-y] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 07/17/2023] [Revised: 08/16/2023] [Accepted: 08/16/2023] [Indexed: 09/05/2023]
Abstract
A cross-sectional study was performed to evaluate health-related quality of life (HRQOL) in children with congenital vascular malformations (CVM) and to investigate factors associated with an impaired HRQOL. Children (2-17 years) with CVMs who visited the HECOVAN expertise center between 2016-2018 were included. The PedsQL 4.0 Generic Core Scales were used and a score ≥ 1.0 SD below the normative mean was defined as an impaired HRQOL. Factors associated with impairment were investigated using univariate and multivariate logistic regression analysis. The median overall HRQOL was 84.8/100 (n = 207; 41% boys, 59% girls; self-reported IQR 73.9-92.4 and parent-reported IQR 71.4-92.4). Patients aged 13-17 years reported significantly worse physical functioning than those aged 8-12 years (median 84.4, IQR 71.1-93.8 versus median 90.6, IQR 81.3-96.9; p = 0.02). Parents reported a significantly lower overall HRQOL than their children (median 80.4, IQR 70.7-90.8 versus median 85.9, IQR 76.1-92.4; p = 0.001). HRQOL was impaired in 25% of patients. Impairment occurred significantly more often in lower extremity CVMs (38%, p = 0.01) and multifocal CVMs (47%, p = 0.01) compared to CVMs in the head/neck region (13%). Other associated factors included invasive management (31% versus 14%; p = 0.01), age at first treatment ≤ 5 years (48% versus 25%; p = 0.02) and ongoing treatment (38% versus 18%; p = 0.004). After correction for other factors, significance remained for lower extremity CVMs and ongoing invasive treatment. CONCLUSIONS Overall median HRQOL was reasonable and not significantly different from the norm sample. Parental ratings were significantly lower than their children's ratings. A quarter of the patients had an impaired HRQOL, which seemed to worsen with age. Independently associated factors included a lower extremity CVM and invasive management. WHAT IS KNOWN • Congenital vascular malformations could affect health-related quality of life (HRQOL). • Studies on pediatric patients are limited and either very small or in combination with adult patient series. WHAT IS NEW • This study raises awareness of an impaired HRQOL in 25% of pediatric patients with congenital vascular malformations. • Associated factors included a lower extremity CVM and invasive management.
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Affiliation(s)
- Frédérique C M Bouwman
- Department of Pediatric Surgery, Radboudumc-Amalia Children's Hospital, P.O. Box 9101, 6500 HB, Nijmegen, the Netherlands.
- Department of Radiology and Nuclear Medicine, Radboudumc, P.O. Box 9101, 6500 HB, Nijmegen, the Netherlands.
- Radboudumc Center of Expertise for Vascular Anomalies Hecovan, VASCERN VASCA European Reference Center, P.O. Box 9101, 6500 HB, Nijmegen, the Netherlands.
| | - Chris Verhaak
- Department of Medical Psychology, Radboudumc, Nijmegen, the Netherlands
| | - Ivo de Blaauw
- Department of Pediatric Surgery, Radboudumc-Amalia Children's Hospital, P.O. Box 9101, 6500 HB, Nijmegen, the Netherlands
| | - Leo J Schultze Kool
- Department of Radiology and Nuclear Medicine, Radboudumc, P.O. Box 9101, 6500 HB, Nijmegen, the Netherlands
- Radboudumc Center of Expertise for Vascular Anomalies Hecovan, VASCERN VASCA European Reference Center, P.O. Box 9101, 6500 HB, Nijmegen, the Netherlands
| | - D Maroeska W M Te Loo
- Radboudumc Center of Expertise for Vascular Anomalies Hecovan, VASCERN VASCA European Reference Center, P.O. Box 9101, 6500 HB, Nijmegen, the Netherlands
- Department of Pediatric Hematology, Radboudumc-Amalia Children's Hospital, Nijmegen, the Netherlands
| | | | - Carine J M van der Vleuten
- Radboudumc Center of Expertise for Vascular Anomalies Hecovan, VASCERN VASCA European Reference Center, P.O. Box 9101, 6500 HB, Nijmegen, the Netherlands
- Department of Dermatology, Radboudumc, Nijmegen, the Netherlands
| | - Sanne M B I Botden
- Department of Pediatric Surgery, Radboudumc-Amalia Children's Hospital, P.O. Box 9101, 6500 HB, Nijmegen, the Netherlands
- Radboudumc Center of Expertise for Vascular Anomalies Hecovan, VASCERN VASCA European Reference Center, P.O. Box 9101, 6500 HB, Nijmegen, the Netherlands
| | - Bas H Verhoeven
- Department of Pediatric Surgery, Radboudumc-Amalia Children's Hospital, P.O. Box 9101, 6500 HB, Nijmegen, the Netherlands
- Radboudumc Center of Expertise for Vascular Anomalies Hecovan, VASCERN VASCA European Reference Center, P.O. Box 9101, 6500 HB, Nijmegen, the Netherlands
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Trinidad S, Garrison A, Encisco EM, Canteria R, VanderBrink B, Strine A, Reddy P, Kotagal M, Rosen N, Rymeski B, Frischer JS. Long-Term Male Sexual Function and Fecal Incontinence Outcomes for Adult Patients with Hirschsprung Disease or Anorectal Malformation. J Pediatr Surg 2023; 58:1573-1577. [PMID: 37221125 DOI: 10.1016/j.jpedsurg.2023.04.006] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/13/2023] [Accepted: 04/17/2023] [Indexed: 05/25/2023]
Abstract
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.
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Affiliation(s)
- Stephen Trinidad
- Colorectal Center at Cincinnati Children's, Division of Pediatric General and Thoracic Surgery, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA
| | - Aaron Garrison
- Colorectal Center at Cincinnati Children's, Division of Pediatric General and Thoracic Surgery, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA; Department of Surgery, University of Cincinnati College of Medicine, Cincinnati, OH, USA
| | - Ellen M Encisco
- Colorectal Center at Cincinnati Children's, Division of Pediatric General and Thoracic Surgery, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA
| | - Rey Canteria
- Colorectal Center at Cincinnati Children's, Division of Pediatric General and Thoracic Surgery, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA
| | - Brian VanderBrink
- Division of Pediatric Urology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA
| | - Andrew Strine
- Division of Pediatric Urology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA
| | - Pramod Reddy
- Division of Pediatric Urology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA
| | - Meera Kotagal
- Colorectal Center at Cincinnati Children's, Division of Pediatric General and Thoracic Surgery, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA; Department of Surgery, University of Cincinnati College of Medicine, Cincinnati, OH, USA
| | - Nelson Rosen
- Colorectal Center at Cincinnati Children's, Division of Pediatric General and Thoracic Surgery, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA; Department of Surgery, University of Cincinnati College of Medicine, Cincinnati, OH, USA
| | - Beth Rymeski
- Colorectal Center at Cincinnati Children's, Division of Pediatric General and Thoracic Surgery, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA; Department of Surgery, University of Cincinnati College of Medicine, Cincinnati, OH, USA
| | - Jason S Frischer
- Colorectal Center at Cincinnati Children's, Division of Pediatric General and Thoracic Surgery, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA; Department of Surgery, University of Cincinnati College of Medicine, Cincinnati, OH, USA.
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Røkkum H, Johannessen H, Bjørnland K. Perioperative and Long-Term Outcome in Patients Treated for Jejunoileal Atresia. J Pediatr Gastroenterol Nutr 2023; 76:434-439. [PMID: 36727903 DOI: 10.1097/mpg.0000000000003709] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 02/03/2023]
Abstract
OBJECTIVES Jejunoileal atresia is a common cause of neonatal intestinal obstruction. Results of long-term outcome are very limited. The aim of this study was to describe perioperative and postoperative outcome, and to evaluate long-term gastrointestinal quality of life (QoL) in patients treated for jejunoileal atresia. METHODS We conducted a combined retrospective and cross-sectional observational study of patients treated for jejunoileal atresia during 2001-2019. Perioperative data were registered, and complications were classified according to the Clavien-Dindo classification. To evaluate long-term clinical status and QoL, the PedsQL Gastrointestinal Symptoms Scales questionnaire and a self-designed questionnaire were used. Approval from the Data Protection Office was obtained. RESULTS Seventy patients were included in the retrospective part of the study. Of these, 70% got a primary anastomosis. Concomitant anomalies were registered in 46%. Median length of stay was 28 (5-140) days. Early (<28 days) complication rate was 66%. Early abdominal surgical reinterventions were performed in 11%, most frequently due to anastomotic leak. Late (>28 days) abdominal surgical reinterventions were performed in 21%, and most commonly for bowel obstruction. Overall mortality rate was 4%. Thirty-two patients with median 8 (2-19) years returned the questionnaires. Overall gastrointestinal QoL was good. However, concomitant gastrointestinal anomalies were associated with impaired outcome. Embarrassment of the scar was reported in 38%. Three (9%) patients used medication (laxatives, proton pump inhibitor) for gastrointestinal symptoms. CONCLUSIONS Jejunoileal atresia is associated with significant morbidity during initial treatment. Despite this, the majority of the patients have excellent long-term outcomes.
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Affiliation(s)
- Henrik Røkkum
- From the Department of Pediatric Surgery, Oslo University Hospital, Oslo, Norway
- University of Oslo, Oslo, Norway
| | | | - Kristin Bjørnland
- From the Department of Pediatric Surgery, Oslo University Hospital, Oslo, Norway
- University of Oslo, Oslo, Norway
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Reppucci ML, Wehrli LA, Wilcox D, Ketzer J, Pena A, de la Torre L, Bischoff A, Wood D. Patient-reported urinary outcomes in adult males with congenital colorectal conditions. Pediatr Surg Int 2022; 38:1709-1716. [PMID: 36151341 DOI: 10.1007/s00383-022-05215-x] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Accepted: 09/02/2022] [Indexed: 11/25/2022]
Abstract
PURPOSE Long-term urinary outcomes for patients born with Hirschsprung disease (HD) and anorectal malformations (ARM) may impact their health and wellbeing into adulthood. This study describes self-reported long-term urinary outcomes in males with HD and ARM. METHODS This was a prospective study of male patients in the Adult Colorectal Research Registry who completed surveys on urinary function between October 2019 and March 2022. Self-reported health and functional outcomes were summarized, and differences based on type of condition were compared. RESULTS Sixty-seven patients completed the questionnaire (response rate: 59.1%), of which 17.9% (12) had HD and 82.1% (55) had an ARM. Rates of urinary incontinence and stress urinary incontinence were 16.4% (11) and 4.5% (3), respectively. On sub-analysis of patients with ARM, patients with sacral ratio (SR) of 0.4-0.69 reported higher UTI rates compared to those with SR ≥ 0.7 (57.9 vs 25.8%, p = 0.023). Renal failure rates were highest among patients with recto-bladder neck fistulas (66.0%, p = 0.012). CONCLUSION Patients with HD and ARM report a variety of urological sequelae in adulthood. Outcomes appear to be more common in patients with ARM and may be impacted by both anatomy and sacral ratios. Transitional care to monitor and manage renal and urological function is imperative.
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Affiliation(s)
- Marina L Reppucci
- International Center for Colorectal and Urogenital Care, Children's Hospital Colorado, Aurora, CO, USA
| | - Lea A Wehrli
- International Center for Colorectal and Urogenital Care, Children's Hospital Colorado, Aurora, CO, USA
| | - Duncan Wilcox
- International Center for Colorectal and Urogenital Care, Children's Hospital Colorado, Aurora, CO, USA
| | - Jill Ketzer
- International Center for Colorectal and Urogenital Care, Children's Hospital Colorado, Aurora, CO, USA
| | - Alberto Pena
- International Center for Colorectal and Urogenital Care, Children's Hospital Colorado, Aurora, CO, USA
| | - Luis de la Torre
- International Center for Colorectal and Urogenital Care, Children's Hospital Colorado, Aurora, CO, USA
| | - Andrea Bischoff
- International Center for Colorectal and Urogenital Care, Children's Hospital Colorado, Aurora, CO, USA
| | - Dan Wood
- International Center for Colorectal and Urogenital Care, Children's Hospital Colorado, Aurora, CO, USA.
- Division of Pediatric Surgery, Children's Hospital Colorado, 13213 E 16th Ave Anschutz Medical Campus, Box 323, Aurora, CO, 80045, USA.
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10
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Fujiwara N, Miyahara K, Nakazawa-Tanaka N, Oishi Y, Akazawa C, Tada N, Yamataka A. Differentiation of enteric neural crest cells transplanted from SOX10-Venus mouse embryonic stem cells into the gut of the endothelin receptor B null mouse model. Pediatr Surg Int 2022; 39:18. [PMID: 36449105 DOI: 10.1007/s00383-022-05318-5] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Accepted: 11/23/2022] [Indexed: 12/05/2022]
Abstract
PURPOSE Failure of enteric neural crest-derived cells (ENCCs) to correctly colonize the embryonic gut results in Hirschsprung's disease (HD). Embryonic stem cells (ESCs) have the potential to differentiate into all tissue-specific cells and lineages, including ENCCs. We investigated the cellular differentiation of ESCs from Sox10-Venus + mice into both control and endothelin receptor-B knockout (Ednrb KO) mouse gut to assess each region. METHODS We established ESCs from Sox10-Venus + mice. These cells were cultured for 2 days, then selected and co-cultured with either a dissociated control or Sox10-Venus - Ednrb KO mouse gut (both small intestine and colon) on embryonic day (E) 13.5. Four days later, cells were immunolabeled for Tuj1 and visualized using confocal microscopy. RESULTS Confocal microscopy revealed that transplanted Sox10-Venu + cells from ESCs migrated extensively within the host gut. Moreover, Tuj1-positive neurites were detected in the transplanted ESCs. Tuj1 expression was significantly decreased in aganglionic HD colon compared to controls (p < 0.05) and the HD small intestine (p < 0.05). CONCLUSIONS This study demonstrated that an appropriate host environment is crucial for normal and complete colonization of the gut. Further investigations are required to confirm whether modifying this environment can improve the results of this model.
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Affiliation(s)
- Naho Fujiwara
- Department of Pediatric General and Urogenital Surgery, Juntendo University Graduate School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo, 113-8421, Japan.
| | - Katsumi Miyahara
- Department of Pediatric General and Urogenital Surgery, Juntendo University Graduate School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo, 113-8421, Japan
| | - Nana Nakazawa-Tanaka
- Department of Pediatric General and Urogenital Surgery, Juntendo University Graduate School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo, 113-8421, Japan
- Department of Pediatric Surgery, Juntendo Nerima Hospital, Nerima-ku, Tokyo, Japan
| | - Yoshie Oishi
- Medical Technology Innovation Center, Juntendo University Graduate School of Medicine, Bunkyo-ku, Tokyo, Japan
| | - Chihiro Akazawa
- Intractable Disease Research Center, Juntendo University School of Medicine, Bunkyo-ku, Tokyo, Japan
| | - Norihiro Tada
- Atopy Research Center, Juntendo University School of Medicine, Bunkyo-ku, Tokyo, Japan
| | - Atsuyuki Yamataka
- Department of Pediatric General and Urogenital Surgery, Juntendo University Graduate School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo, 113-8421, Japan
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11
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Oltean I, Hayawi L, Larocca V, Bijelić V, Beveridge E, Kaur M, Grandpierre V, Kanyinda J, Nasr A. Quality of life outcomes in children after surgery for Hirschsprung disease and anorectal malformations: a systematic review and meta-analysis. WORLD JOURNAL OF PEDIATRIC SURGERY 2022; 5:e000447. [PMID: 36474732 PMCID: PMC9716859 DOI: 10.1136/wjps-2022-000447] [Citation(s) in RCA: 8] [Impact Index Per Article: 2.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/10/2022] [Accepted: 10/12/2022] [Indexed: 11/12/2022] Open
Abstract
Background No systematic review and meta-analysis to date has examined multiple child and parent-reported social and physical quality of life (QoL) in pediatric populations affected by Hirschsprung's disease (HD) and anorectal malformations (ARM). The objective of this systematic review is to quantitatively summarize the parent-reported and child-reported psychosocial and physical functioning scores of such children. Methods Records were sourced from the CENTRAL, EMBASE, and MEDLINE databases. Studies that reported child and parent reported QoL in children with HD and ARM, regardless of surgery intervention, versus children without HD and ARM, were included. The primary outcome was the psychosocial functioning scores, and the secondary outcomes were the presence of postoperative constipation, postoperative obstruction symptoms, fecal incontinence, and enterocolitis. A random effects meta-analysis was used. Results Twenty-three studies were included in the systematic review, with 11 studies included in the meta-analysis. Totally, 1678 total pediatric patients with HD and ARM underwent surgery vs 392 healthy controls. Pooled parent-reported standardized mean (SM) scores showed better social functioning after surgery (SM 91.79, 95% CI (80.3 to 103.3), I2=0). The pooled standardized mean difference (SMD) showed evidence for parent-reported incontinence but not for constipation in children with HD and ARM after surgery that had a lower mean QoL score compared with the normal population (SMD -1.24 (-1.79 to -0.69), I2=76% and SMD -0.45, 95% CI (-1.12 to 0.21), I2=75%). The pooled prevalence of child-reported constipation was 22% (95% CI (16% to 28%), I2=0%). The pooled prevalence of parent-reported postoperative obstruction symptoms was 61% (95% CI (41% to 81%), I2=41%). Conclusion The results demonstrate better social functioning after surgery, lower QoL scores for incontinence versus controls, and remaining constipation and postoperative obstruction symptoms after surgery in children with HD and ARM.
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Affiliation(s)
- Irina Oltean
- Department of Surgery, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada
| | - Lamia Hayawi
- Clinical Research Unit, Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada
| | - Victoria Larocca
- Department of Surgery, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada
| | - Vid Bijelić
- Clinical Research Unit, Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada
| | - Emily Beveridge
- Department of Surgery, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada
| | - Manvinder Kaur
- Department of Surgery, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada
| | - Viviane Grandpierre
- Department of Surgery, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada
| | - Jane Kanyinda
- Department of Surgery, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada
| | - Ahmed Nasr
- Department of Surgery, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada
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12
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Tham SW, Rollins MD, Reeder RW, Lewis KE, Calkins CM, Avansino JR, Palermo TM. Health-related quality of life in children with Hirschsprung disease and children with functional constipation: Parent-child variability. J Pediatr Surg 2022; 57:1694-1700. [PMID: 35491270 PMCID: PMC9296600 DOI: 10.1016/j.jpedsurg.2022.04.009] [Citation(s) in RCA: 5] [Impact Index Per Article: 1.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/14/2022] [Accepted: 04/14/2022] [Indexed: 12/29/2022]
Abstract
BACKGROUND Health-related quality of life (HRQOL) is an important outcome among children with Hirschsprung Disease (HD), but there are challenges in interpreting findings in previous studies owing to the choice of a comparator group and informant. We compared parent-proxy versus child self-report HRQOL in children with HD to children with functional constipation (FC) and examined predictors of HRQOL. METHODS Data of 126 children (5-18 years, 60.3% male, HD: n = 52, FC: n = 74) were acquired from the Pediatric Colorectal and Pelvic Learning Consortium. Demographics, clinical variables, HRQOL (Pediatric Quality of Life Inventory parent-proxy; child self-report) and functional outcomes (Baylor Continence Scale, Cleveland Clinic Constipation Scoring System) were collected. RESULTS Parent and child HRQOL was similar for both cohorts, with higher scores on physical functioning and lower scores on emotional and school functioning. For children with HD, demographics and clinical variables did not predict HRQOL in multivariable regression models. For children with FC, greater severity of constipation predicted lower HRQOL (parent-proxy: B = -2.14, p < 0.001; child: B = -1.75, p = 0.001). Parent-child agreement on HRQOL scores was poor to moderate in the HD group (intraclass correlations (ICC)=0.38-0.74), but moderate to excellent in the FC group (ICC=0.63-0.84). Furthermore, parents of children with FC and ≤10 years overestimated children's HRQOL (proportional OR 4.59 (1.63, 13.85); p = 0.004). CONCLUSION Clinical symptoms and demographic factors did not predict HRQOL among children with HD, highlighting the need to examine other biopsychosocial factors to understand long term HRQOL. Low parent-child HRQOL agreement in children with HD demonstrates the importance of obtaining parent and child perspectives. LEVEL OF EVIDENCE III. TYPE OF STUDY Prognosis study.
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Affiliation(s)
- See Wan Tham
- Department of Anesthesiology and Pain Medicine, University of Washington School of Medicine, Seattle, WA, USA; Seattle Children's Research Institute, M/S CURE-3, PO Box 5371, Seattle, WA 98145, USA.
| | - Michael D Rollins
- University of Utah Health, Salt Lake City, UT, USA,Division of Pediatric Surgery, Primary Children’s Hospital, Salt Lake City, UT, USA
| | - Ron W Reeder
- Division of Pediatric Critical Care, University of Utah, Salt Lake City, UT, USA
| | - Katelyn E Lewis
- Division of Pediatric Critical Care, University of Utah, Salt Lake City, UT, USA
| | - Casey M Calkins
- Division of Pediatric Surgery, Children’s Hospital of Wisconsin, Milwaukee, WI, USA
| | - Jeffrey R Avansino
- Department of Surgery, University of Washington School of Medicine, Division of Pediatric General and Thoracic Surgery, Seattle Children’s, Seattle, WA USA
| | - Tonya M. Palermo
- Department of Anesthesiology & Pain Medicine, University of Washington School of Medicine, Seattle, WA, USA,Seattle Children’s Research Institute, Seattle, WA, USA
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13
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Patient-reported outcome measures in pediatric surgery - A systematic review. J Pediatr Surg 2022; 57:798-812. [PMID: 35123787 DOI: 10.1016/j.jpedsurg.2021.12.036] [Citation(s) in RCA: 13] [Impact Index Per Article: 4.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 12/21/2021] [Accepted: 12/29/2021] [Indexed: 11/21/2022]
Abstract
PURPOSE With improved long-term survival rates, measuring the quality of surgical care has gradually shifted from clinical morbidity and mortality to patient-reported outcome measures (PROMs). Since the use of PROMs in pediatric surgery is still limited, we undertook a study to identify current PROMs, assess their characteristics, and identify gaps and areas for improvement. METHODS A search was conducted in eight databases from their inception until May 2021 to identify PROMs that have been used in pediatric surgical patients. PRISMA standards were followed, and screening was completed by two independent reviewers. The quality of the included studies was appraised using the AXIS and the Mixed Methods Appraisal Tool. RESULTS Of 8282 studies screened, 101 articles met the inclusion criteria. Most of the studies (99%) were cross-sectional. We identified 85 different PROMs among the studies, 53 being disease-specific and the rest generic. The PedsQL™ was the most frequently used tool (42 studies). Almost half of the instruments (41 studies) were not validated, and 28% were developed ad hoc for each specific study. Significantly, all PROMs encountered were standardized (consisting of pre-determined domains), with no individualized tools currently in use. The overall quality of the included studies was good. CONCLUSIONS PROMs are increasingly used in pediatric surgery. Disease-specific PROMs predominate the field, yet validated and especially individualized PROMs are notably absent. Future efforts are needed to develop robust tools that reflect individual patient and family needs, preferences, and values, with the aim of furthering family-centered pediatric surgical care.
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14
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Huizer V, Wijekoon N, Roorda D, Oosterlaan J, Benninga MA, van Heurn LWE, Rajindrajith S, Derikx JPM. Generic and disease-specific health-related quality of life in patients with Hirschsprung disease: A systematic review and meta-analysis. World J Gastroenterol 2022; 28:1362-1376. [PMID: 35645538 PMCID: PMC9099180 DOI: 10.3748/wjg.v28.i13.1362] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 06/09/2021] [Revised: 10/15/2021] [Accepted: 02/23/2022] [Indexed: 02/06/2023] Open
Abstract
BACKGROUND Patients with Hirschsprung disease (HD) are at risk of persistent constipation, fecal incontinence or recurrent enterocolitis after surgical treatment, which in turn may impact physical and psychosocial functioning. Generic health-related quality of life (HRQoL) and disease-specific health-related quality of life are relevant outcome measures to assess the impact of HD on the QoL of these patients.
AIM To summarize all available evidence on HRQoL of patients with HD after surgery and the impact of possible moderating factors.
METHODS Pubmed, Web of Sciences, PsycInfo and Embase were searched with search terms related to ‘Hirschsprung disease’, ‘Pediatrics’ and ‘Quality of life’. Mean and standard deviation of generic HRQoL overall and domain scores were extracted from each study, as well as data describing potential factors associated with QoL. Random effect models were used for meta-analytic aggregation of generic HRQoL scores. Meta-regression was used to assess the relationship between patient and clinical characteristics and generic HRQoL. Disease-specific HRQoL outcomes of patients with HD were systematically reviewed.
RESULTS Seventeen articles were included in the systematic review (n = 1137 patients) and 15 in the quantitative meta-analysis (n = 1024 patients). Four studies reported disease-specific HRQoL. Patient’s age ranged between 0 and 21 years. Meta-analytic aggregation showed a non-significantly impaired generic HRQoL (d = -0.168 [95%CI: -0.481; 0.145], P = 0.293, I2 = 94.9) in patients with HD compared to healthy controls. Physical (d = -0.042 [95%CI: -0.419; 0.335], P = 0.829, I2 = 95.1), psychosocial (d = -0.159 [95%CI: -0.458; 0.141], P = 0.299, I2 = 93.6) and social HRQoL (d = -0.092 [95%CI: -0.642; 0.457], P = 0.742, I² = 92.3) were also not significantly lower compared to healthy controls. There was no relation between health-related outcomes and the sex of the patients and whether generic HRQoL was measured by parental proxy or self-report. Disease-specific complaints of patients with HD impaired physical HRQoL, but not psychosocial and social HRQoL.
CONCLUSION In this systematic review and meta-analysis, no evidence was found for impaired generic HRQoL in patients with HD compared to healthy controls, neither for moderating effects of sex, parental proxy or self-report.
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Affiliation(s)
- Veerle Huizer
- Department of Pediatric Surgery, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam and Vrije Universiteit Amsterdam, Amsterdam Reproduction and Development, Amsterdam 1105 AZ, Netherlands
| | - Naveen Wijekoon
- Department of Surgery, University of Colombo and Department of Paediatric Surgery, Lady Ridgeway Hospital for Children, Colombo 00800, Sri Lanka
| | - Daniëlle Roorda
- Department of Pediatric Surgery, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam and Vrije Universiteit Amsterdam, Amsterdam Reproduction and Development, Amsterdam 1105 AZ, Netherlands
- Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Emma Neuroscience Group, Amsterdam Reproduction and Development, Amsterdam 1105 AZ, Netherlands
| | - Jaap Oosterlaan
- Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Emma Neuroscience Group, Amsterdam Reproduction and Development, Amsterdam 1105 AZ, Netherlands
| | - Marc A Benninga
- Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Emma Neuroscience Group, Amsterdam Reproduction and Development, Amsterdam 1105 AZ, Netherlands
| | - LW Ernest van Heurn
- Department of Pediatric Surgery, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam and Vrije Universiteit Amsterdam, Amsterdam Reproduction and Development, Amsterdam 1105 AZ, Netherlands
| | - Shaman Rajindrajith
- Department of Pediatrics, Lady Ridgeway Hospital for Children, Colombo 00800, Sri Lanka
| | - Joep PM Derikx
- Department of Pediatric Surgery, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam and Vrije Universiteit Amsterdam, Amsterdam Reproduction and Development, Amsterdam 1105 AZ, Netherlands
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15
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Short SS, Durham MM, Rollins MD. Hirschsprung disease outcomes. Semin Pediatr Surg 2022; 31:151160. [PMID: 35690462 DOI: 10.1016/j.sempedsurg.2022.151160] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/16/2022]
Abstract
Hirschsprung disease (HD) is a complex surgical and medical problem that appears to have varied health and social outcomes with the age and neurodevelopmental state of patients. In general, long-term outcomes are thought to be good for the majority of patients despite recognized problems with constipation and/or fecal incontinence. However, there are no universally accepted pathways regarding post-operative bowel management programs nor clearly defined follow-up pathways making the current outcome measures difficult to interpret. Further, other factors that may influence outcome including age at the time of procedure and procedure type continue to lack consensus. Improved support of children in resource limited environments and during periods of transition into the adult medical care environment are needed to improve outcome. Recent proliferation of multidisciplinary care teams and consortia may help to better understand outcomes and address current knowledge gaps. Continuing these collaborations will be imperative to continuing improvements in care which may ultimately impact outcome.
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Affiliation(s)
- Scott S Short
- Division of Pediatric Surgery, Department of Surgery, University of Utah School of Medicine, 100N. Mario Capecchi Drive, Suite 3800, Salt Lake City, UT 84113, United States.
| | - Megan M Durham
- Division of Pediatric Surgery, Department of Surgery, Emory University School of Medicine, Room B206 1364 Clifton Road, NE, Atlanta, GA 30322, Georgia
| | - Michael D Rollins
- Division of Pediatric Surgery, Department of Surgery, University of Utah School of Medicine, 100N. Mario Capecchi Drive, Suite 3800, Salt Lake City, UT 84113, United States
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16
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Verkuijl SJ, Meinds RJ, van der Steeg AF, van Gemert WG, de Blaauw I, Witvliet MJ, Sloots CE, van Heurn E, Vermeulen KM, Trzpis M, Broens PM. Functional Outcomes After Surgery for Total Colonic, Long-Segment, Versus Rectosigmoid Segment Hirschsprung Disease. J Pediatr Gastroenterol Nutr 2022; 74:348-354. [PMID: 34775429 PMCID: PMC8860201 DOI: 10.1097/mpg.0000000000003355] [Citation(s) in RCA: 4] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/11/2021] [Accepted: 10/10/2021] [Indexed: 12/14/2022]
Abstract
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.
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Affiliation(s)
- Sanne J. Verkuijl
- Department of Surgery, Division of Pediatric Surgery
- Department of Surgery, Anorectal Physiology Laboratory, University of Groningen, University Medical Center Groningen, Groningen
| | - Rob J. Meinds
- Department of Surgery, Anorectal Physiology Laboratory, University of Groningen, University Medical Center Groningen, Groningen
- Department of Gastroenterology and Hepatology, Medisch Spectrum Twente, Enschede
| | | | - Wim G. van Gemert
- Department of Pediatric Surgery, University Medical Centre Maastricht, University of Maastricht, Maastricht
| | - Ivo de Blaauw
- Department of Surgery, Division of Pediatric Surgery, Radboudumc–Amalia Children's Hospital, Nijmegen
| | - Marieke J. Witvliet
- Department of Pediatric Surgery, Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht
| | - Cornelius E.J. Sloots
- Department of Pediatric Surgery, Erasmus Medical Centre, Sophia Children's Hospital, Rotterdam
| | - Ernst van Heurn
- Department of Pediatric Surgery, Emma Children's Hospital, Academic Medical Centre and VU University Medical Centre, Amsterdam
| | - Karin M. Vermeulen
- Department of Epidemiology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
| | - Monika Trzpis
- Department of Surgery, Anorectal Physiology Laboratory, University of Groningen, University Medical Center Groningen, Groningen
| | - Paul M.A. Broens
- Department of Surgery, Division of Pediatric Surgery
- Department of Surgery, Anorectal Physiology Laboratory, University of Groningen, University Medical Center Groningen, Groningen
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17
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Uecker M, Ure B, Quitmann JH, Dingemann J. Need for transition medicine in pediatric surgery – health related quality of life in adolescents and young adults with congenital malformations. Innov Surg Sci 2022; 6:151-160. [PMID: 35937850 PMCID: PMC9294337 DOI: 10.1515/iss-2021-0019] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/26/2021] [Accepted: 08/13/2021] [Indexed: 11/26/2022] Open
Abstract
Survival rates of patients with visceral congenital malformations have increased considerably. However, long-term morbidity in these patients is high. In the last decades, these circumstances have led to a shift in goals of caretakers and researchers with a new focus on patients’ perspectives and long-term morbidity. Health-related quality of life (HrQoL) is the most commonly used patient-reported outcome measure to assess the impact of chronic symptoms on patients’ everyday lives. Most pediatric surgical conditions can cause a significantly decreased HrQoL in affected patients compared to the healthy population. In order to guarantee life-long care and to minimize the impact on HrQoL a regular interdisciplinary follow-up is obligatory. The period of transition from child-centered to adult-oriented medicine represents a critical phase in the long-term care of these complex patients. This scoping review aims to summarize relevant pediatric surgical conditions focusing on long-term-morbidity and HrQoL assessment in order to demonstrate the necessity for a well-structured and standardized transition for pediatric surgical patients.
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Affiliation(s)
- Marie Uecker
- Center of Pediatric Surgery , Hannover Medical School and Bult Children’s Hospital , Hannover , Germany
| | - Benno Ure
- Center of Pediatric Surgery , Hannover Medical School and Bult Children’s Hospital , Hannover , Germany
| | - Julia Hannah Quitmann
- Department of Medical Psychology , University Medical Center Hamburg-Eppendorf , Hamburg , Germany
| | - Jens Dingemann
- Center of Pediatric Surgery , Hannover Medical School and Bult Children’s Hospital , Hannover , Germany
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18
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Verkuijl SJ, Meinds RJ, van der Steeg AFW, Sloots CEJ, van Heurn E, de Blaauw I, van Gemert WG, Witvliet MJ, Vermeulen KM, Trzpis M, Broens PMA. Familial Experience With Hirschsprung's Disease Improves the Patient's Ability to Cope. Front Pediatr 2022; 10:820976. [PMID: 35321007 PMCID: PMC8935079 DOI: 10.3389/fped.2022.820976] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 11/23/2021] [Accepted: 02/08/2022] [Indexed: 11/13/2022] Open
Abstract
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.
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Affiliation(s)
- Sanne J Verkuijl
- Division of Pediatric Surgery, Department of Surgery, University Medical Center Groningen, University of Groningen, Groningen, Netherlands.,Anorectal Physiology Laboratory, Department of Surgery, University Medical Center Groningen, University of Groningen, Groningen, Netherlands
| | - Rob J Meinds
- Anorectal Physiology Laboratory, Department of Surgery, University Medical Center Groningen, University of Groningen, Groningen, Netherlands.,Department of Gastroenterology and Hepatology, Medisch Spectrum Twente, Enschede, Netherlands
| | | | - Cornelius E J Sloots
- Department of Pediatric Surgery, Erasmus Medical Centre, Sophia Children's Hospital, Rotterdam, Netherlands
| | - Ernst van Heurn
- Department of Pediatric Surgery, Emma Children's Hospital, Academic Medical Centre and VU University Medical Centre, Amsterdam, Netherlands
| | - Ivo de Blaauw
- Division of Pediatric Surgery, Department of Surgery, Radboudumc, Amalia Children's Hospital, Nijmegen, Netherlands
| | - Wim G van Gemert
- Department of Pediatric Surgery, University Medical Centre Maastricht, University of Maastricht, Maastricht, Netherlands
| | - Marieke J Witvliet
- Department of Pediatric Surgery, Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht, Netherlands
| | - Karin M Vermeulen
- Department of Epidemiology, University Medical Center Groningen, University of Groningen, Groningen, Netherlands
| | - Monika Trzpis
- Anorectal Physiology Laboratory, Department of Surgery, University Medical Center Groningen, University of Groningen, Groningen, Netherlands
| | - Paul M A Broens
- Division of Pediatric Surgery, Department of Surgery, University Medical Center Groningen, University of Groningen, Groningen, Netherlands.,Anorectal Physiology Laboratory, Department of Surgery, University Medical Center Groningen, University of Groningen, Groningen, Netherlands
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19
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Evans-Barns HME, Swannjo J, Trajanovska M, Safe M, Hutson JM, Teague WJ, Dinning PG, King SK. Post-operative colonic manometry in children with Hirschsprung disease: A systematic review. Neurogastroenterol Motil 2021; 33:e14201. [PMID: 34214244 DOI: 10.1111/nmo.14201] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/14/2021] [Revised: 05/20/2021] [Accepted: 05/20/2021] [Indexed: 12/24/2022]
Abstract
BACKGROUND A significant proportion of children experience bowel dysfunction (including constipation and fecal incontinence) following surgical repair of Hirschsprung disease (HD). Persistent symptoms are thought to relate to underlying colonic and/or anorectal dysmotility. Manometry may be used to investigate the gastrointestinal motility patterns of this population. PURPOSE To (1) evaluate the colonic manometry equipment and protocols used in the assessment of the post-operative HD population and (2) summarize the available evidence regarding colonic motility patterns in children with HD following surgical repair. DATA SOURCES We performed a systematic review of the Cochrane Library, Embase, MEDLINE, and PubMed databases (January 1, 1980 and March 9, 2020). Data were extracted independently by two authors. STUDY SELECTION This systematic review was performed in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA). Studies reporting the post-operative assessment of children with HD using colonic manometry were considered for inclusion. RESULTS Five studies satisfied selection criteria, providing a combined total of 496 children. Of these, 184 children with repaired HD underwent colonic manometry. Studies assessed heterogeneous populations, utilized variable manometry equipment and protocols, and reported limited baseline symptom characteristics, thus restricting comparability. All studies used low-resolution colonic manometry. CONCLUSIONS This systematic review highlighted the paucity of evidence informing the understanding of colonic dysmotility in the post-operative HD cohort. Current literature is limited by variable methodologies, heterogeneous cohorts, and the lack of high-resolution manometry.
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Affiliation(s)
- Hannah M E Evans-Barns
- Department of Paediatric Surgery, The Royal Children's Hospital, Melbourne, Victoria, Australia.,Surgical Research Group, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.,Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia
| | - Justina Swannjo
- Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia
| | - Misel Trajanovska
- Department of Paediatric Surgery, The Royal Children's Hospital, Melbourne, Victoria, Australia.,Surgical Research Group, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.,Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia
| | - Mark Safe
- Department of Gastroenterology and Clinical Nutrition, The Royal Children's Hospital, Melbourne, Victoria, Australia
| | - John M Hutson
- Surgical Research Group, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.,Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.,Department of Urology, The Royal Children's Hospital, Melbourne, Victoria, Australia
| | - Warwick J Teague
- Department of Paediatric Surgery, The Royal Children's Hospital, Melbourne, Victoria, Australia.,Surgical Research Group, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.,Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia
| | - Phil G Dinning
- Department of Surgery, College of Medicine and Public Health, The Flinders University and Flinders Medical Centre, Bedford Park, South Australia, Australia
| | - Sebastian K King
- Department of Paediatric Surgery, The Royal Children's Hospital, Melbourne, Victoria, Australia.,Surgical Research Group, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.,Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia
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20
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Kawaguchi AL, Guner YS, Sømme S, Quesenberry AC, Arthur LG, Sola JE, Downard CD, Rentea RM, Valusek PA, Smith CA, Slidell MB, Ricca RL, Dasgupta R, Renaud E, Miniati D, McAteer J, Beres AL, Grabowski J, Peter SDS, Gosain A. Management and outcomes for long-segment Hirschsprung disease: A systematic review from the APSA Outcomes and Evidence Based Practice Committee. J Pediatr Surg 2021; 56:1513-1523. [PMID: 33993978 PMCID: PMC8552809 DOI: 10.1016/j.jpedsurg.2021.03.046] [Citation(s) in RCA: 13] [Impact Index Per Article: 3.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 07/21/2020] [Revised: 03/11/2021] [Accepted: 03/15/2021] [Indexed: 12/19/2022]
Abstract
OBJECTIVE Long-Segment Hirschsprung Disease (LSHD) differs clinically from short-segment disease. This review article critically appraises current literature on the definition, management, outcomes, and novel therapies for patients with LSHD. METHODS Four questions regarding the definition, management, and outcomes of patients with LSHD were generated. English-language articles published between 1990 and 2018 were compiled by searching PubMed, Scopus, Cochrane Central Register of Controlled Trials, Web of Science, and Google Scholar. A qualitative synthesis was performed. RESULTS 66 manuscripts were included in this systematic review. Standardized nomenclature and preoperative evaluation for LSHD are recommended. Insufficient evidence exists to recommend a single method for the surgical repair of LSHD. Patients with LSHD may have increased long-term gastrointestinal symptoms, including Hirschsprung-associated enterocolitis (HAEC), but have a quality of life similar to matched controls. There are few surgical technical innovations focused on this disorder. CONCLUSIONS A standardized definition of LSHD is recommended that emphasizes the precise anatomic location of aganglionosis. Prospective studies comparing operative options and long-term outcomes are needed. Translational approaches, such as stem cell therapy, may be promising in the future for the treatment of long-segment Hirschsprung disease.
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Affiliation(s)
- Akemi L Kawaguchi
- Department of Pediatric Surgery, University of Texas Health Science Center at Houston, Houston, TX, USA.
| | - Yigit S Guner
- Department of Surgery University of California Irvine and Division of Pediatric Surgery Children's Hospital of Orange County, USA
| | - Stig Sømme
- Division of Pediatric Surgery, Children's Hospital Colorado, University of Colorado, Aurora, CO, USA
| | | | - L Grier Arthur
- Division of Pediatric General, Thoracic, and Minimally Invasive Surgery, St. Christopher's Hospital for Children, Philadelphia, PA, USA
| | - Juan E Sola
- Division of Pediatric Surgery, University of Miami Miller School of Medicine, Miami, FL, USA
| | - Cynthia D Downard
- Division of Pediatric Surgery, Hiram C. Polk, Jr, MD Department of Surgery, University of Louisville, Louisville, KY, USA
| | - Rebecca M Rentea
- Department of Pediatric Surgery, Children's Mercy-Kansas City, Kansas City, MO, USA
| | - Patricia A Valusek
- Pediatric Surgical Associates, Children's Minnesota, Minneapolis, MN, USA
| | - Caitlin A Smith
- Division of Pediatric General and Thoracic Surgery, Seattle Children's Hospital, University of Washington School of Medicine, Seattle, WA, USA
| | - Mark B Slidell
- Section of Pediatric Surgery, Comer Children's Hospital, The University of Chicago Medicine, Chicago, Illinois, USA
| | - Robert L Ricca
- Division of Pediatric Surgery, Naval Medical Center, Portsmouth, VA, USA
| | - Roshni Dasgupta
- Division of Pediatric General and Thoracic Surgery, Cincinnati Childrens Medical Center, University of Cincinnati, Cincinnati OH, USA
| | - Elizabeth Renaud
- Division of Pediatric Surgery, Alpert Medical School of Brown University, Hasbro Children's Hospital, Rhode Island Hospital, Providence, RI, USA
| | - Doug Miniati
- Division of Pediatric Surgery, Kaiser Permanente Roseville Women and Children's Center, Roseville, California, USA
| | | | - Alana L Beres
- Division of Pediatric General, Thoracic and Fetal Surgery, University of California, Davis, Sacramento CA, USA
| | - Julia Grabowski
- Division of Pediatric Surgery, Ann and Robert H. Lurie Children's Hospital, Northwestern University, Chicago, IL long, USA
| | - Shawn D St Peter
- Department of Surgery, Children's Mercy Hospital, Kansas City, MO, USA
| | - Ankush Gosain
- Division of Pediatric Surgery, Department of Surgery, University of Tennessee Health Science Center, Children's Foundation Research Institute, Le Bonheur Children's Hospital, Memphis, TN, USA.
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21
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Davidson JR, Kyrklund K, Eaton S, Pakarinen MP, Thompson DS, Cross K, Blackburn SC, De Coppi P, Curry J. Long-term surgical and patient-reported outcomes of Hirschsprung Disease. J Pediatr Surg 2021; 56:1502-1511. [PMID: 33706942 DOI: 10.1016/j.jpedsurg.2021.01.043] [Citation(s) in RCA: 43] [Impact Index Per Article: 10.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 11/13/2020] [Revised: 01/07/2021] [Accepted: 01/26/2021] [Indexed: 12/29/2022]
Abstract
BACKGROUND Information is needed regarding the complex relationships between long-term functional outcomes and health-related quality of life (HRQoL) in Hirschsprung's Disease (HSCR). We describe long-term outcomes across multiple domains, completing a core outcome set through to adulthood. METHODS HSCR patients operated at a single center over a 35-year period (1978-2013) were studied. Patients completed detailed questionnaires on bowel and urologic function, and HRQOL. Patients with learning disability (LD) were excluded. Outcomes were compared to normative data. Data are reported as median [IQR] or mean (SD). RESULTS 186 patients (median age 28 [18-32] years; 135 males) completed surveys. Bowel function was reduced (BFS 17 [14-19] vs. 19 [19-20], p < 0•0001;η2 = 0•22). Prevalence and severity of fecal soiling and fecal awareness improved with age (p < 0•05 for both). Urinary incontinence was more frequent than controls, most of all in 13-26y females (65% vs. 31%,p = 0•003). In adults, this correlated independently with constipation symptoms (OR 3.18 [1.4-7.5],p = 0.008). HRQoL outcomes strongly correlated with functional outcome: 42% of children demonstrated clinically significant reductions in overall PedsQL score, and poor bowel outcome was strongly associated with impaired QOL (B = 22•7 [12•7-32•7],p < 0•001). In adults, GIQLI scores were more often impacted in patients with extended segment disease. SF-36 scores were reduced relative to population level data in most domains, with large effect sizes noted for females in General Health (g = 1.19) and Social Wellbeing (g = 0.8). CONCLUSION Functional impairment is common after pull-through, but bowel function improves with age. Clustering of poor functional outcomes across multiple domains identifies a need for early recognition and long-term support for these patients.
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Affiliation(s)
- Joseph R Davidson
- Specialist Neonatal and Paediatric Surgery, Great Ormond Street Hospital for Children, London, UK; Stem Cells and Regenerative Medicine Section, UCL-GOS Institute of Child Health, London, UK.
| | - Kristiina Kyrklund
- Department of Paediatric Surgery, New Children's Hospital, University of Helsinki and Helsinki University Hospital, Finland
| | - Simon Eaton
- Stem Cells and Regenerative Medicine Section, UCL-GOS Institute of Child Health, London, UK
| | - Mikko P Pakarinen
- Department of Paediatric Surgery, New Children's Hospital, University of Helsinki and Helsinki University Hospital, Finland
| | - David S Thompson
- Specialist Neonatal and Paediatric Surgery, Great Ormond Street Hospital for Children, London, UK
| | - Kate Cross
- Specialist Neonatal and Paediatric Surgery, Great Ormond Street Hospital for Children, London, UK
| | - Simon C Blackburn
- Specialist Neonatal and Paediatric Surgery, Great Ormond Street Hospital for Children, London, UK
| | - Paolo De Coppi
- Specialist Neonatal and Paediatric Surgery, Great Ormond Street Hospital for Children, London, UK; Stem Cells and Regenerative Medicine Section, UCL-GOS Institute of Child Health, London, UK
| | - Joe Curry
- Specialist Neonatal and Paediatric Surgery, Great Ormond Street Hospital for Children, London, UK.
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22
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Verkuijl SJ, Friedmacher F, Harter PN, Rolle U, Broens PMA. Persistent bowel dysfunction after surgery for Hirschsprung’s disease: A neuropathological perspective. World J Gastrointest Surg 2021; 13:822-833. [PMID: 34512906 PMCID: PMC8394380 DOI: 10.4240/wjgs.v13.i8.822] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/12/2021] [Revised: 05/12/2021] [Accepted: 07/05/2021] [Indexed: 02/06/2023] Open
Abstract
Hirschsprung’s disease (HD) is a congenital disorder, characterized by aganglionosis in the distal part of the gastrointestinal tract. Despite complete surgical resection of the aganglionic segment, both constipation and fecal incontinence persist in a considerable number of patients with limited treatment options. There is growing evidence for structural abnormalities in the ganglionic bowel proximal to the aganglionosis in both humans and animals with HD, which may play a role in persistent bowel dysfunction. These abnormalities include: (1) Histopathological abnormalities of enteric neural cells; (2) Imbalanced expression of neurotransmitters and neuroproteins; (3) Abnormal expression of enteric pacemaker cells; (4) Abnormalities of smooth muscle cells; and (5) Abnormalities within the extracellular matrix. Hence, a better understanding of these previously unrecognized neuropathological abnormalities may improve follow-up and treatment in patients with HD suffering from persistent bowel dysfunction following surgical correction. In the long term, further combination of clinical and neuropathological data will hopefully enable a translational step towards more individual treatment for HD.
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Affiliation(s)
- Sanne J Verkuijl
- Department of Pediatric Surgery, University Hospital Frankfurt, Goethe University Frankfurt, Frankfurt 60590, Germany
- Neurological Institute (Edinger-Institute), University Hospital Frankfurt, Goethe University Frankfurt, Frankfurt 60528, Germany
- Department of Surgery, Division of Pediatric Surgery, University of Groningen, University Medical Center Groningen, Groningen 9700 RB, Netherlands
| | - Florian Friedmacher
- Department of Pediatric Surgery, University Hospital Frankfurt, Goethe University Frankfurt, Frankfurt 60590, Germany
| | - Patrick N Harter
- Neurological Institute (Edinger-Institute), University Hospital Frankfurt, Goethe University Frankfurt, Frankfurt 60528, Germany
| | - Udo Rolle
- Department of Pediatric Surgery, University Hospital Frankfurt, Goethe University Frankfurt, Frankfurt 60590, Germany
| | - Paul MA Broens
- Department of Surgery, Division of Pediatric Surgery, University of Groningen, University Medical Center Groningen, Groningen 9700 RB, Netherlands
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23
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Kastenberg ZJ, Taylor MA, Durham MM, Calkins CM, Rentea RM, Wood RJ, Avansino JR, Levitt MA, van Leeuwen KD, Lewis KE, Reeder RW, Rollins MD. Perioperative and long-term functional outcomes of neonatal versus delayed primary endorectal pull-through for children with Hirschsprung disease: A pediatric colorectal and pelvic learning consortium study. J Pediatr Surg 2021; 56:1465-1469. [PMID: 34052005 DOI: 10.1016/j.jpedsurg.2021.04.024] [Citation(s) in RCA: 14] [Impact Index Per Article: 3.5] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/21/2021] [Accepted: 04/22/2021] [Indexed: 12/29/2022]
Abstract
BACKGROUND/PURPOSE the timing of endorectal pull-through for Hirschsprung disease (HD) is controversial. Neonatal primary endorectal pull-through theoretically prevents preoperative enterocolitis. Delayed primary endorectal pull-through offers the surgeon the benefit of more robust perineal anatomy and allows primary caregivers the time to emotionally process the diagnosis and to gain experience with rectal irrigations. We hypothesized that delayed primary endorectal pull-through would be associated with equivalent perioperative morbidity compared to the neonatal repair and would lead to improved long-term functional outcomes. METHODS we analyzed all patients in the Pediatric Colorectal and Pelvic Learning Consortium (PCPLC) registry who had a primary endorectal pull-through for HD and at least three-and-one-half years of follow up in a specialty colorectal clinic. We evaluated patient demographics, operative outcomes, perioperative episodes of enterocolitis, and long-term functional outcomes for the neonatal (<31 days) and delayed (≥31 days) pull-through cohorts. RESULTS eighty-two patients were identified of whom 49 were operated upon in the neonatal period and 33 in a delayed fashion. The median age at operation was 11 days [IQR 7 - 19 days] for the neonatal cohort and 98 days [IQR 61 - 188 days] for the delayed cohort. Thirty-four (69.4%) of the neonatal and 22 (66.7%) of the delayed cohort patients had rectosigmoid transition zones. Four of 49 patients (8.1%) in the neonatal cohort were diagnosed with enterocolitis preoperatively compared to two of 33 (6.0%) in the delayed cohort (p = 0.89). Eighteen of 49 patients (36.7%) in the neonatal cohort and 16 of 33 (48.5%) in the delayed cohort had at least one postoperative episode of enterocolitis (p = 0.38). Fifteen of 49 patients (30.6%) in the neonatal cohort were receiving bowel management for fecal incontinence at most recent follow up compared to five of 33 (15.2%) in the delayed cohort (p = 0.13). CONCLUSION delayed primary endorectal pull-through offers a safe alternative to operation in the neonatal period and appears to have, at least, equivalent functional outcomes. LEVEL OF EVIDENCE Level III, retrospective comparative study.
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Affiliation(s)
- Zachary J Kastenberg
- Division of Pediatric Surgery, Department of Surgery, University of Utah School of Medicine, Primary Children's Hospital, 100N. Mario Cappecchi Dr., Suite 3800, Salt Lake City, UT 84113, United States.
| | - Mark A Taylor
- Division of Pediatric Surgery, Department of Surgery, University of Utah School of Medicine, Primary Children's Hospital, 100N. Mario Cappecchi Dr., Suite 3800, Salt Lake City, UT 84113, United States
| | - Megan M Durham
- Division of Pediatric Surgery, Department of Surgery, Emory University School of Medicine, Children's Healthcare of Atlanta, Atlanta, GA, United States
| | - Casey M Calkins
- Division of Pediatric Surgery, Department of Surgery, Medical College of Wisconsin, Children's Hospital of Wisconsin, Milwaukee, WI, United States
| | - Rebecca M Rentea
- Division of Pediatric Surgery, Department of Surgery, Children's Mercy Kansas City, Kansas City, MO, United States
| | - Richard J Wood
- Division of Pediatric Surgery, Department of Surgery, Ohio State College of Medicine, Nationwide Children's Hospital, Columbus, OH, United States
| | - Jeffrey R Avansino
- Division of Pediatric General and Thoracic Surgery, Department of Surgery, University of Washington School of Medicine, Seattle Children's, WA, United States
| | - Marc A Levitt
- Division of Colorectal and Pelvic Reconstruction, Children's National Hospital, Washington DC, United States
| | | | - Katelyn E Lewis
- Division of Pediatric Critical Care, Department of Pediatrics, University of Utah School of Medicine, Primary Children's Hospital, Salt Lake City, UT, United States
| | - Ron W Reeder
- Division of Pediatric Critical Care, Department of Pediatrics, University of Utah School of Medicine, Primary Children's Hospital, Salt Lake City, UT, United States
| | - Michael D Rollins
- Division of Pediatric Surgery, Department of Surgery, University of Utah School of Medicine, Primary Children's Hospital, 100N. Mario Cappecchi Dr., Suite 3800, Salt Lake City, UT 84113, United States
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24
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Krois W, Reck CA, Darbari A, Badillo A, Levitt MA. A technique to reconstruct the anal sphincters following iatrogenic stretching related to a pull-through for Hirschsprung disease. J Pediatr Surg 2021; 56:1242-1246. [PMID: 33358008 DOI: 10.1016/j.jpedsurg.2020.12.007] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 11/05/2020] [Revised: 11/25/2020] [Accepted: 12/01/2020] [Indexed: 12/29/2022]
Abstract
Soiling and fecal incontinence are troubling complications which can occur after a pull-through for Hirschsprung disease. They can usually be improved with proper medical management, but in some cases are the result of an anatomic defect related to overstretching of the sphincters and/or damage of the anal canal. For such patients the treatment of this true fecal incontinence is limited to a structured bowel management program with ante- or retrograde enemas to achieve social continence. Herein we report two such patients with overstretched sphincters and loss of the dentate line after an initial pull-through and describe a sphincter tightening technique to improve bowel control.
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Affiliation(s)
- Wilfried Krois
- Comprehensive Center for Pediatrics, Department of Surgery, Clinical Department of Pediatric Surgery, Medical University of Vienna, Vienna, Austria.
| | - Carlos A Reck
- Comprehensive Center for Pediatrics, Department of Surgery, Clinical Department of Pediatric Surgery, Medical University of Vienna, Vienna, Austria
| | - Anil Darbari
- Division of Colorectal and Pelvic Reconstruction, Children's National Hospital, Washington DC, USA
| | - Andrea Badillo
- Division of Colorectal and Pelvic Reconstruction, Children's National Hospital, Washington DC, USA
| | - Marc A Levitt
- Division of Colorectal and Pelvic Reconstruction, Children's National Hospital, Washington DC, USA
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25
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Loganathan AK, Mathew AS, Kurian JJ. Assessment of Quality of Life and Functional Outcomes of Operated Cases of Hirschsprung Disease in a Developing Country. Pediatr Gastroenterol Hepatol Nutr 2021; 24:145-153. [PMID: 33833970 PMCID: PMC8007849 DOI: 10.5223/pghn.2021.24.2.145] [Citation(s) in RCA: 7] [Impact Index Per Article: 1.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/21/2020] [Accepted: 10/18/2020] [Indexed: 12/25/2022] Open
Abstract
PURPOSE Children treated for Hirschsprung disease (HD) are adversely affected by fecal incontinence and soiling. This can be detrimental to their physical, psychosocial quality of life (QoL) and impacts the normal functioning of their family. QoL studies in HD are predominantly from developed countries. We measured general quality of life, impact on family and functional bowel status using validated questionnaires in HD children in a developing country. METHODS Patients with HD, treated in a tertiary paediatric institution in India between 2010 and 2017, were identified. Patients and/or their proxy completed the Pediatric Quality of Life and Family Impact Module questionnaires. Functional outcomes were assessed using Rintala's score. RESULTS A 86 children and their parents participated in the study. Majority had rectosigmoid disease (67.4%) and underwent Soave's endoanal pull through (74.4%). A 21% of patients had low Rintala score indicating poor functional bowel outcomes. Only 11% of children had poor QoL scores. Family functioning outcomes were also severely affected in the same subgroup of patients. There was statistically significant correlation between Rintala score and QoL scores (p-value<0.001). Disease severity, type of surgery, and duration of follow-up did not have a statistically significant impact on the QoL. CONCLUSION QoL in children with HD was comparable to the general population. Bowel dysfunction affects a notable number of children and was the most significant determinant of poor QoL.
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Affiliation(s)
- Arun Kumar Loganathan
- Department of Paediatric Surgery, Christian Medical College and Hospital, Vellore, India
| | - Aleena Sara Mathew
- Department of Paediatric Surgery, Christian Medical College and Hospital, Vellore, India
| | - Jujju Jacob Kurian
- Department of Paediatric Surgery, Christian Medical College and Hospital, Vellore, India
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26
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Gao Q, Wang S, Ren J, Wen X. Measuring parent proxy-reported quality of life of 11 rare diseases in children in Zhejiang, China. Health Qual Life Outcomes 2020; 18:372. [PMID: 33225969 PMCID: PMC7682005 DOI: 10.1186/s12955-020-01572-0] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/20/2020] [Accepted: 09/21/2020] [Indexed: 12/29/2022] Open
Abstract
BACKGROUND It has become increasingly important to measure the health-related quality of life (HRQoL) of rare diseases in children and adolescents in recent decades. Much attention has been paid to investigate the HROoL of a specific rare disease by self-report in previous studies. This study aimed to evaluate and compare the HROoL of 11 rare diseases in Chinese children by parent proxy-report, to explore the factors associated with HROoL of patients, and to understand the problems of most concern. METHODS A total of 651 children aged from 2 to 18 were enrolled from the Children's Hospital Affiliated Zhejiang University in 2018. Their parents completed the parent proxy-report version of the Pediatric Quality of Life Inventory™ 4.0 (PedsQL™ 4.0). Independent samples t-test, one-way ANOVA, or Kruskal-Wallis H test was used to compare HROoL scores between groups. Multilevel linear regression models with random intercept were applied to analyze the relationship between socioeconomic variables and both the total score and subdomain scores. RESULTS The total PedsQL scores of Patent ductus arteriosus (PDA), Infantile agranulocytosis, Autoimmune thrombocytopenia (ITP), Polysyndactyly, Hirschsprung disease, Cleft lip and palate, Tetralogy of fallot, Myasthenia gravis, Guillain-barre syndrome, Glycogen storage disease, and Langerhans cell histiocytosis children were 79.65 ± 5.46, 95.88 ± 3.48, 71.39 ± 3.27, 91.77 ± 6.35, 76.18 ± 6.92, 96.33 ± 4.22, 77.85 ± 8.90, 95.99 ± 3.31, 85.77 ± 4.56, 82.97 ± 4.13 and 77.6 ± 5.15, respectively. Age was significantly associated with physical functioning, school functioning, and psychosocial health scores. The household registration place was significantly related to the total score. The most urgent desire of patients was to reduce the overall medical costs. CONCLUSIONS This study showed that patients with PDA had the lowest physical functioning score, while patients with ITP scored the lowest in the emotional functioning, social functioning, school functioning, psychosocial health, and total scores. Incentive policies should be further adopted to improve orphan drug availability and reduce the economic burden of rare diseases.
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Affiliation(s)
- Qisheng Gao
- Department of Public Health, Hangzhou Medical College, No. 481 Binwen Road, Hangzhou, 310053, Zhejiang Province, China
| | - Shanshan Wang
- Department of Health Management, School of Medicine, Hangzhou Normal University, No. 2318 Yuhangtang Road, Hangzhou, 311121, Zhejiang Province, China
| | - Jianping Ren
- Department of Health Management, School of Medicine, Hangzhou Normal University, No. 2318 Yuhangtang Road, Hangzhou, 311121, Zhejiang Province, China
| | - Xin Wen
- Center for Medical Science, Technology and Education of Zhejiang Province, No, 60 Hefang Street, Hangzhou, 310006, Zhejiang Province, China.
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Bolia R, Safe M, Southwell BR, King SK, Oliver MR. Paediatric constipation for general paediatricians: Review using a case-based and evidence-based approach. J Paediatr Child Health 2020; 56:1708-1718. [PMID: 33197982 DOI: 10.1111/jpc.14720] [Citation(s) in RCA: 5] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 09/13/2019] [Revised: 11/26/2019] [Accepted: 11/27/2019] [Indexed: 12/13/2022]
Abstract
Constipation is a common problem in childhood. The most common type of constipation is functional, accounting for 90-95% of all cases. The aim of this review is to provide clinical scenarios with treatment using evidence-based information, and management strategies and a clinical algorithm to guide the management of constipation in children. Recent guidelines and online information sites are detailed. Clinical red flags and organic causes of constipation are included. Four clinical scenarios are presented: case (1) 4-month-old child with constipation since birth and likely Hirschsprung disease; case (2) 6-month-old infant with infant dyschezia; case (3) 4-year old with functional constipation; and; case (4) 9-year old with treatment resistant constipation. Children with functional constipation need a thorough history and physical exam to rule out the presence of any 'red flags' but do not require laboratory investigations. Management includes education and demystification, disimpaction followed by maintenance therapy with oral laxatives, dietary counselling and toilet training. Treatment options differ between infants and children. Disimpaction and maintenance regimens for common laxatives are presented. On treatment failure or on suspicion of organic disease the patient should be referred for further evaluation. The radionuclide intestinal transit study (scintigraphy) is a useful modality for evaluation and planning of management in treatment-resistant children. Treatment options for treatment-resistant patients are presented. High-level evidence (meta-analyses) for pharmalogical and non-pharmalogical treatment modalities are reviewed and an algorithm for assessment and treatment are presented.
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Affiliation(s)
- Rishi Bolia
- Division of Paediatric Gastroenterology, All India Institute of Medical Sciences, Rishikesh, India
| | - Mark Safe
- Department of Gastroenterology and Clinical Nutrition, Royal Children's Hospital, Melbourne, Victoria, Australia
| | - Bridget R Southwell
- Surgical Research Group, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.,Department of Urology, Royal Children's Hospital, Melbourne, Victoria, Australia.,Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia
| | - Sebastian K King
- Department of Gastroenterology and Clinical Nutrition, Royal Children's Hospital, Melbourne, Victoria, Australia.,Surgical Research Group, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.,Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.,Department of Paediatric Surgery, Royal Children's Hospital, Melbourne, Victoria, Australia
| | - Mark R Oliver
- Department of Gastroenterology and Clinical Nutrition, Royal Children's Hospital, Melbourne, Victoria, Australia.,Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia
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28
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Quality of life outcomes in children born with duodenal atresia. J Pediatr Surg 2020; 55:2111-2114. [PMID: 31955988 DOI: 10.1016/j.jpedsurg.2019.11.017] [Citation(s) in RCA: 14] [Impact Index Per Article: 2.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/27/2019] [Revised: 10/25/2019] [Accepted: 11/05/2019] [Indexed: 12/29/2022]
Abstract
PURPOSE The aim of this study was to determine long term quality of life (QoL) outcome for children who underwent surgery for duodenal atresia (DA). METHODS Patients were identified from a prospective database of neonatal DA cases managed at a tertiary pediatric surgical centre. The QoL was measured using the validated PedsQL™ 4.0 core score and PedsQL™ gastrointestinal module; higher score equates to better QoL. Participants' scores were compared to published control cohorts, age-matching the core score. Trisomy 21 was identified a priori as a possible confounder, informing subgroup analyses for children with and without trisomy 21. RESULTS Fifty-five families were invited to participate, with 38 surveys returned (39% male; median age 6.7y, range 2.7-17.3y). Seven participants had trisomy 21. There were no differences in QoL measures between all DA participants and controls. The PedsQL™ core score was significantly lower for DA participants with trisomy 21, but there was no accompanying difference in PedsQL™ gastrointestinal score. CONCLUSIONS Children undergoing DA surgery in the neonatal period typically grow up to have a QoL comparable to a healthy population. Children with DA and trisomy 21 were more likely to have reduced overall QoL, albeit without an associated difference in gastrointestinal QoL score. LEVEL OF EVIDENCE Prognosis study - level II (prospective cohort study).
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29
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Nasr A, Grandpierre V, Sullivan KJ, Wong CA, Benchimol EI. Long-term Outcomes of Patients Surgically Treated for Hirschsprung Disease. J Can Assoc Gastroenterol 2020; 4:201-206. [PMID: 34617001 PMCID: PMC8489523 DOI: 10.1093/jcag/gwaa026] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 05/13/2020] [Accepted: 07/14/2020] [Indexed: 01/04/2023] Open
Abstract
Background The only curative treatment for Hirschsprung disease (HD) is surgical repair. However, some patients experience poor postoperative outcomes. We determined long-term outcomes of all HD patients in Ontario, Canada’s most populous province. Methods We conducted a retrospective cohort study including all children with HD born between April 1, 1991 and March 31, 2014 in Ontario using linked health administrative data. Each HD case was matched to five non-HD controls on sex, date of birth, region of residence and income and followed to March 31, 2016. Chronic diarrhea and constipation were identified using combinations of outpatient physician billing codes in both HD patients and non-HD residents of the province. We determined risk factors associated with diarrhea and constipation, including surgery type and sociodemographic characteristics, using multivariable conditional logistic regression, and reported adjusted odds ratios (aORs). Results There were 3,265,172 children born in the study period, of whom 673 had HD. Compared to controls, chronic constipation was more common in HD patients (27.5% versus 2.1%; aOR 17.2, 95% CI 12.6 to 23.4), as was chronic diarrhea (29.9% versus 6.9%, aOR 5.22, 95% CI 4.19 to 6.50). In HD patients, older age at surgery was associated with increased risk of chronic constipation (OR 2.71, 95% CI 1.75 to 4.20). Surgery type, sex, rural/urban residence and income were not associated with risk of chronic constipation or diarrhea. Conclusion Chronic constipation and diarrhea were common following surgery for HD. Older age at surgery was associated with subsequent risk of chronic constipation. Surgery type was not associated with increased risk of chronic constipation or diarrhea.
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Affiliation(s)
- Ahmed Nasr
- Department of Pediatric Surgery, Children's Hospital of Eastern Ontario (CHEO), Ottawa, Ontario, Canada.,Department of Surgery, University of Ottawa, Ottawa, Ontario, Canada.,CHEO Research Institute, Ottawa, Ontario, Canada
| | - Viviane Grandpierre
- Department of Pediatric Surgery, Children's Hospital of Eastern Ontario (CHEO), Ottawa, Ontario, Canada
| | - Katrina J Sullivan
- Department of Pediatric Surgery, Children's Hospital of Eastern Ontario (CHEO), Ottawa, Ontario, Canada
| | | | - Eric I Benchimol
- CHEO Research Institute, Ottawa, Ontario, Canada.,ICES uOttawa, Ottawa, Ontario, Canada.,Division of Gastroenterology, Hepatology and Nutrition, CHEO, Ottawa, Ontario, Canada.,Department of Pediatrics and School of Epidemiology and Public Health, University of Ottawa, Ottawa, Ontario, Canada
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30
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Saysoo MR, Dewi FST, Gunadi. Quality of life of patients with Hirschsprung disease after Duhamel and Soave pull-through procedures: A mixed-methods sequential explanatory cohort study. Ann Med Surg (Lond) 2020; 56:34-37. [PMID: 32577229 PMCID: PMC7303518 DOI: 10.1016/j.amsu.2020.05.043] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/15/2020] [Revised: 05/18/2020] [Accepted: 05/19/2020] [Indexed: 12/21/2022] Open
Abstract
BACKGROUND Quality of life (QoL) is one of the important outcomes for patients with Hirschsprung disease (HSCR) after pull-through that provides qualitative data concerning the long-term outcomes, however, it has not been well-studied. The HSCR/anorectal malformation quality of life questionnaire (HAQL) is considered valid and reliable to evaluate the QoL of HSCR patients. MATERIAL AND METHODS A mixed-method sequential explanatory cohort study was conducted to compare the QoL of HSCR patients after Duhamel and Soave pull-through at Dr. Sardjito Hospital between 2013 and 2018 using an Indonesian adaptation of the HAQL, followed by a qualitative study. RESULTS We ascertained eleven HSCR patients (Duhamel: five HAQL parents and one HAQL adolescent vs. Soave: four HAQL parents and one HAQL adult). For the quantitative study, the mean HAQL score was 2.50 and 2.79 for the Duhamel and Soave groups, respectively. For the qualitative study, interviewed patients' parents expressed how their child's life had improved after surgery. However, frequent bloating was a major complaint following Soave surgery, whereas hardened stools were a major problem after Duhamel procedure. CONCLUSION Here, for the first time using a mixed-method sequential explanatory cohort design, we show that patients with HSCR after Soave tended to have a higher overall QoL score compared to the Duhamel group. Further multicenter study with a larger sample size is mandatory to give better understanding about QoL of HSCR patients following pull-through.
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Affiliation(s)
- Michelle Raj Saysoo
- Medicine Study Program, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada, Yogyakarta, 55281, Indonesia
| | - Fatwa Sari Tetra Dewi
- Department of Health Behavior, Environment and Social Medicine, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada, Yogyakarta, 55281, Indonesia
| | - Gunadi
- Pediatric Surgery Division, Department of Surgery, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada/Dr. Sardjito Hospital, Yogyakarta, 55281, Indonesia
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Abstract
OBJECTIVE This multicentric study aimed to evaluate the quality of life (QOL) in children with Hirschsprung's disease (HD). METHODS HD patients aged from 6 to 18 years and followed-up in 2 French pediatric surgery centers were included in this study. QOL was assessed using the HAQL questionnaires according to age (6-11 and 12-18), filled by patients and their parents (proxy reports) and correlated with initial disease characteristics, nutritional status, and functional score of Krickenbeck. RESULTS Sixty-three patients were included. The acquisition of satisfactory voluntary bowel movements was found in only 50% of the 6 to 11 years old and 68% of the teenagers. Seventy percentage of the children and 55% of teenagers had soiling issues. The overall HAQLproxy6--11 score was 528/700; best scores were found for "fecal continence" (94/100), "social functioning" (94/100), and "urinary continence" (92/100) whereas the worst scores were for "general well-being" (64/100) and "diurnal fecal continence" (58/100). The overall HAQLproxy12--16 score was 607/700; best scores were for "urinary continence" (96/100) and "social functioning" (93/100). In a multivariate analysis, soiling was the only factor significantly associated with low QOL (P = 0.03). CONCLUSIONS Soiling remains frequent in children operated on for HD and negatively affects their QOL. Assessment and treatment of soiling should be the priority for medical teams in the follow-up of these children.
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32
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Functional outcome, quality of life, and 'failures' following pull-through surgery for hirschsprung's disease: A review of practice at a single-center. J Pediatr Surg 2020; 55:273-277. [PMID: 31759654 DOI: 10.1016/j.jpedsurg.2019.10.042] [Citation(s) in RCA: 8] [Impact Index Per Article: 1.6] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 10/09/2019] [Accepted: 10/26/2019] [Indexed: 12/13/2022]
Abstract
AIMS The purpose of this study was to assess bowel function and quality of life (QoL) in patients with Hirschsprung's disease (HD) and identify patients who have 'failed' treatment. METHODS A review of a single-center HD cohort treated with pull-through surgery from 2004 to 2017 was completed. Bowel function of patients five years and above and QoL of all patients were assessed using validated questionnaires. Patients who 'failed' treatment were defined as above five years with one or more of: a) long-term stoma, b) needing an antegrade continence enema or transanal irrigation, c) severe soiling, or d) severe constipation. Statistical analysis was performed with P < 0.05 deemed significant. Data are given as mean [range]. RESULTS Seventy-one patients presented with HD within the study period. Mean follow-up was 5.4 years [0.7-13.3]. Of 38 eligible patients, bowel function was assessed in 24 patients (nine had a stoma, five lost to follow-up). The mean incontinence score was 17 [0-28)], and the mean constipation score was 17 [5-25]. Incontinence and constipation scores were worse than healthy controls (P < 0.001 and P = 0.001, respectively) and did not improve with age. Fifty-six patients had QoL assessed with no difference between our cohort (81 [25-100]) and healthy controls (81 [unknown]); (P = 0.85). Thirty-three patients were assessed for 'failure' (bowel function score n = 24; stoma n = 9). Thirty of 33 (91%) children older than five years can be considered to have 'failed' treatment. CONCLUSIONS Patients have worse bowel function than healthy children, which does not improve with age. QoL is comparable to healthy controls. A significant proportion of patients have poor outcomes and have 'failed' treatment. LEVEL OF EVIDENCE Level III.
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33
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Hutson JM, Hynes MC, Kearsey I, Yik YI, Veysey DM, Tudball CF, Cain TM, King SK, Southwell BR. 'Rapid transit' constipation in children: a possible genesis for irritable bowel syndrome. Pediatr Surg Int 2020; 36:11-19. [PMID: 31673760 DOI: 10.1007/s00383-019-04587-x] [Citation(s) in RCA: 6] [Impact Index Per Article: 1.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Accepted: 10/03/2019] [Indexed: 02/07/2023]
Abstract
Children with chronic idiopathic constipation (CIC) often end up at the surgeon when medical treatments have failed. This opinion piece discusses a recently described pattern of CIC called 'Rapid transit constipation (RTC)' first identified in 2011 as part of surgical workup. RTC was identified using a nuclear medicine gastrointestinal transit study (NMGIT or nuclear transit study) to determine the site of slowing within the bowel and to inform surgical treatment. Unexpectedly, we found that RTC occured in 29% of 1000 transit studies in a retrospective audit. Irritable bowel syndrome (IBS) occurs in 7-21% of the population, with a higher prevalence in young children and with constipation type dominating in the young. While 60% improve with time, 40% continue with symptoms. First-line therapy for IBS in adults is a diet low in fermentable oligosaccharides, disaccharides, monosaccharides and polyols which reduces symptoms in > 70% of patients. In children with functional gastrointestinal disorders, fructose intolerance occurs in 35-55%. Reducing fructose produced significant improvement in 77-82% of intolerant patients. In children with RTC and a positive breath test upon fructose challenge, we found that exclusion of fructose significantly improved constipation, abdominal pain, stool consistency and decreased laxative use. We hypothesise that positive breath tests and improvement of pain and bowel frequency with sugar exclusion diets in RTC suggest these children have IBS-C. These observations raise the possibility that many children with CIC could be treated by reducing fructose early in their diet and this might prevent the development of IBS in later life.
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Affiliation(s)
- J M Hutson
- Surgical Research Group, Murdoch Children's Research Institute, Melbourne, Australia. .,Department of Urology, The Royal Children's Hospital, 50 Flemington Road, Parkville, VIC, Australia. .,Department of Paediatrics, University of Melbourne, Melbourne, Australia.
| | - M C Hynes
- Department of Paediatrics, University of Melbourne, Melbourne, Australia
| | - I Kearsey
- Department of Paediatrics, University of Melbourne, Melbourne, Australia
| | - Y I Yik
- Surgical Research Group, Murdoch Children's Research Institute, Melbourne, Australia.,Department of Paediatrics, University of Melbourne, Melbourne, Australia.,Division of Paediatric and Neonatal Surgery, Department of Surgery, Faculty of Medicine, University of Malaya, 50603, Kuala Lumpur, Malaysia
| | - D M Veysey
- Department of Nuclear Medicine, The Royal Children's Hospital, Melbourne, Australia
| | - C F Tudball
- Department of Nuclear Medicine, The Royal Children's Hospital, Melbourne, Australia
| | - T M Cain
- Department of Nuclear Medicine, The Royal Children's Hospital, Melbourne, Australia
| | - S K King
- Surgical Research Group, Murdoch Children's Research Institute, Melbourne, Australia.,Department of Paediatrics, University of Melbourne, Melbourne, Australia.,Department of Paediatric Surgery, The Royal Children's Hospital, Melbourne, Australia.,Department of Gastroenterology and Clinical Nutrition, The Royal Children's Hospital, Melbourne, Australia
| | - B R Southwell
- Surgical Research Group, Murdoch Children's Research Institute, Melbourne, Australia.,Department of Paediatrics, University of Melbourne, Melbourne, Australia
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Smith C, Ambartsumyan L, Kapur RP. Surgery, Surgical Pathology, and Postoperative Management of Patients With Hirschsprung Disease. Pediatr Dev Pathol 2020; 23:23-39. [PMID: 31747833 DOI: 10.1177/1093526619889436] [Citation(s) in RCA: 25] [Impact Index Per Article: 5.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 12/11/2022]
Abstract
Endorectal pullthrough surgery is integral in the treatment of patients with Hirschsprung disease. Several different surgical procedures exist, which share as common goals to excise the aganglionic segment and upstream transition zone and attach ganglionic bowel just proximal to the anal canal. The operation requires collaboration between surgeon and pathologist to localize ganglionic bowel and prevent retention of transition zone. Intraoperative frozen sections are extremely important, first to establish that ganglion cells are present and subsequently to exclude features of transition zone (partial circumferential aganglionosis, myenteric hypoganglionosis, and submucosal nerve hypertrophy) at the proximal surgical (anastomotic) margin. Postoperative histopathological analysis of resection specimens should be tailored to document distal aganglionosis, document the length of the aganglionic segment and its proximity to the anastomotic margin, and confirm that transition zone has been resected completely. Adherence to the recommendations described in this review will reduce the likelihood of transition zone pullthrough and should decrease the incidence of persistent postoperative obstructive symptoms.
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Affiliation(s)
- Caitlin Smith
- Department of Pediatric Surgery, Seattle Children's Hospital and University of Washington, Seattle, Washington
| | - Lusine Ambartsumyan
- Department of Gastroenterology, Seattle Children's Hospital and University of Washington, Seattle, Washington
| | - Raj P Kapur
- Department of Pathology, Seattle Children's Hospital and University of Washington, Seattle, Washington
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35
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Amin L, Skoglund C, Wester T, Granström AL. Swedish national population-based study shows an increased risk of depression among patients with Hirschsprung disease. Acta Paediatr 2019; 108:1867-1870. [PMID: 30924549 DOI: 10.1111/apa.14801] [Citation(s) in RCA: 8] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 10/23/2018] [Revised: 03/11/2019] [Accepted: 03/26/2019] [Indexed: 12/13/2022]
Abstract
AIM Hirschsprung disease is usually treated during infancy. The long-term impact on mental health has not been well studied. The aim of this study was to assess the risk for depressive disorders in individuals with Hirschsprung disease. METHODS This was a nationwide, population-based cohort study. The study exposure was Hirschsprung disease and the study outcome was depression. The exposed cohort included all individuals with Hirschsprung disease, registered in the Swedish National Patient Register between 1964 and 2013 and the unexposed cohort included ten age- and sex-matched controls per patient. The diagnosis of depression was confirmed by diagnosis in the Swedish National Patient Register. RESULTS The cohort included 739 (76.5% males) individuals with Hirschsprung disease and 7390 (76.5% males) controls. Among the patients with Hirschsprung disease, 35 (4.7%) of the patients had had a depressive disorder and 187 (2.5%) of controls, hazard ratio 1.98, 95% confidence interval 1.38-2.84. The mean age at diagnosis of first depression was 21.9 years (SD ± 7) in Hirschsprung disease patients and 23.4 years (SD ± 7), p = 0.236 in the unexposed group. There were no significant gender differences. CONCLUSION We found an increased risk of having depressive disorders among individuals with Hirschsprung disease compared to controls.
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Affiliation(s)
- Leila Amin
- Department of Surgical and Perioperative Science Umeå University Umeå Sweden
| | - Charlotte Skoglund
- Department of Clinical Neuroscience Centre for Psychiatry Research Karolinska Institutet Stockholm Sweden
| | - Tomas Wester
- Department of Women's and Children's Health Karolinska Institutet Stockholm Sweden
| | - Anna Löf Granström
- Department of Women's and Children's Health Karolinska Institutet Stockholm Sweden
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