Materiały źródłowe

• #1 Long-term outcomes and quality of life of patients with Hirschsprung disease: a systematic review and meta-analysis | BMC Gastroenterology | Full Text

  https://bmcgastroenterol.biomedcentral.com/articles/10.1186/s12876-020-01208-z

  Advances in surgical techniques and perioperative care have improved the short- and mid-term postoperative outcomes of patients with Hirschsprung disease (HD). However, the long-term outcomes of these patients (older than 10 years) have not been fully investigated. […] The pooled prevalences of fecal incontinence, constipation, and bladder dysfunction symptoms and good to excellent bowel function scores were 0.20 (95% CI 0.130.28), 0.14 (95% CI 0.060.25), 0.07 (95% CI 0.040.12), and 0.95 (95% CI: 0.910.97), respectively; the pooled mean score of gastrointestinal-related quality of life was 118 (95% CI: 112.56123.44). […] HD patients older than ten years old have an overall high prevalence of fecal incontinence and a low quality of life. […] Prospective and multicenter research that focuses on the attributes and predictors of the long-term prognosis of patients with HD are necessary.

• #2 Long-term outcomes and quality of life in patients with Hirschsprung disease

  https://pmc.ncbi.nlm.nih.gov/articles/PMC11474732/

  Although patients with Hirschsprung disease are mostly affected by imperfect bowel function and fecal control in the long term, they are also predisposed to lower urinary tract symptoms, impaired sexual functions, infertility, psychosocial issues, and decreased quality of life. […] Despite frequent occurrence of fecal incontinence and constipation, the overall long-term outlook is quite optimistic as social continence with a good quality of life can be achieved by efficient bowel management also in those affected patients whose self-coping strategies and medical treatment remain insufficient. […] However, the overall long-term outlook seems quite optimistic as social continence with a good quality of life can be achieved by efficient bowel management also in those affected patients whose medical treatment and self-coping strategies remain insufficient.

• #3 Outcomes in Hirschsprung’s disease with coexisting learning disability

  https://pmc.ncbi.nlm.nih.gov/articles/PMC8589745/

  This study describes functional and health-related quality of life (HRQoL) outcomes in patients with Hirschsprungs disease (HSCR) with associated learning disability or neurodevelopmental delay (LD), completing a core outcome set for HSCR. […] Patients with LD had 76% survival over the follow-up period, compared to 99% in the remainder of the cohort. […] Poor functional outcomes were common in the patients with LD, considerably higher than cognitively normal patients: with weekly issues withholding stool, soiling and fecal accidents in over half of patients surveyed (44-60%), and urinary incontinence in 46%. […] Use of permanent stoma was significantly higher (22% vs. 4%; p = 0.001). […] HRQoL was worse in domains of physical functioning in adults and children but not for social or emotional domains in adults.

• #4

  https://link.springer.com/article/10.1007/s00431-021-04129-5

  This study describes functional and health-related quality of life (HRQoL) outcomes in patients with Hirschsprungs disease (HSCR) with associated learning disability or neurodevelopmental delay (LD), completing a core outcome set for HSCR. […] Patients with LD had 76% survival over the follow-up period, compared to 99% in the remainder of the cohort. […] We provide LD-specific outcomes showing inferior function but similar HRQoL to other patients with HSCR, this is much needed in the counselling of families of these children. […] Objective functional and quality of life surveys demonstrate significant differences from patients without cognitive impairment. […] Patients with associated LD were almost ten times more likely to have an associated poor functional outcome, with very little impact on proxy-reported quality of life.

• #5 Hirschsprung Disease: Background, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/178493-overview

  Hirschsprung disease is confined to the rectosigmoid region in about 75% of cases. Approximately 60% of infants with Hirschsprung disease have an associated condition, ranging from subtle to severe. […] Even in cases of treated Hirschsprung disease, the mortality rate may approach 30% as a result of severe enterocolitis. […] Long-term complications mostly affect patients with long-segment disease. These include chronic obstructive symptoms, incontinence, chronic constipation, enterocolitis, and late mortality. Although many patients encounter one or more of these problems postoperatively, long-term follow-up studies have shown that greater than 90% of children experience significant improvement. […] Patients with a syndromic association and those with long-segment disease have poorer outcomes.

• #6 Long-term outcomes and quality of life of patients with Hirschsprung disease: a systematic review and meta-analysis | BMC Gastroenterology | Full Text

  https://bmcgastroenterol.biomedcentral.com/articles/10.1186/s12876-020-01208-z

  Advances in surgical techniques and perioperative care have improved the short- and mid-term postoperative outcomes of patients with Hirschsprung disease (HD). However, the long-term outcomes of these patients (older than 10 years) have not been fully investigated. […] The pooled prevalences of fecal incontinence, constipation, and bladder dysfunction symptoms and good to excellent bowel function scores were 0.20 (95% CI 0.130.28), 0.14 (95% CI 0.060.25), 0.07 (95% CI 0.040.12), and 0.95 (95% CI: 0.910.97), respectively; the pooled mean score of gastrointestinal-related quality of life was 118 (95% CI: 112.56123.44). […] HD patients older than ten years old have an overall high prevalence of fecal incontinence and a low quality of life. […] Prospective and multicenter research that focuses on the attributes and predictors of the long-term prognosis of patients with HD are necessary.

• #7 Long-term outcomes and quality of life of patients with Hirschsprung disease: a systematic review and meta-analysis | BMC Gastroenterology | Full Text

  https://bmcgastroenterol.biomedcentral.com/articles/10.1186/s12876-020-01208-z

  The purpose of this study is to estimate the prevalences of fecal incontinence, constipation, bowel function, bladder dysfunction symptoms and QoL of patients with HD surgical history who reached ten years old or older. […] The pooled prevalence of fecal incontinence in patients with HD who were older than ten years is 20% (95% CI 0.130.28), which is much higher than that of the general population (1.6% in teenagers and 7.7% in adults). […] The pooled mean GIQLI is 120.19 (95% CI: 117.85122.53), which is higher than the cutoff score (i.e., 105) of constant gastrointestinal symptoms; however, it was lower than the average score of the general population (125.8, 95% CI 121.5127.5), suggesting that although most patients do not have consistent gastrointestinal symptoms, their health-related quality of life is not as good as their healthy peers. […] Compared to the general population, adolescent and adult patients with HD surgical history tend to have a higher prevalence of fecal incontinence and lower gastrointestinal-related quality of life, although these patients generally have satisfactory bowel and urinary function.

• #8 Long-term outcomes and quality of life of patients with Hirschsprung disease: a systematic review and meta-analysis | BMC Gastroenterology | Full Text

  https://bmcgastroenterol.biomedcentral.com/articles/10.1186/s12876-020-01208-z

  Advances in surgical techniques and perioperative care have improved the short- and mid-term postoperative outcomes of patients with Hirschsprung disease (HD). However, the long-term outcomes of these patients (older than 10 years) have not been fully investigated. […] The pooled prevalences of fecal incontinence, constipation, and bladder dysfunction symptoms and good to excellent bowel function scores were 0.20 (95% CI 0.130.28), 0.14 (95% CI 0.060.25), 0.07 (95% CI 0.040.12), and 0.95 (95% CI: 0.910.97), respectively; the pooled mean score of gastrointestinal-related quality of life was 118 (95% CI: 112.56123.44). […] HD patients older than ten years old have an overall high prevalence of fecal incontinence and a low quality of life. […] Prospective and multicenter research that focuses on the attributes and predictors of the long-term prognosis of patients with HD are necessary.

• #9 Long-term outcomes and quality of life of patients with Hirschsprung disease: a systematic review and meta-analysis | BMC Gastroenterology | Full Text

  https://bmcgastroenterol.biomedcentral.com/articles/10.1186/s12876-020-01208-z

  Advances in surgical techniques and perioperative care have improved the short- and mid-term postoperative outcomes of patients with Hirschsprung disease (HD). However, the long-term outcomes of these patients (older than 10 years) have not been fully investigated. […] The pooled prevalences of fecal incontinence, constipation, and bladder dysfunction symptoms and good to excellent bowel function scores were 0.20 (95% CI 0.130.28), 0.14 (95% CI 0.060.25), 0.07 (95% CI 0.040.12), and 0.95 (95% CI: 0.910.97), respectively; the pooled mean score of gastrointestinal-related quality of life was 118 (95% CI: 112.56123.44). […] HD patients older than ten years old have an overall high prevalence of fecal incontinence and a low quality of life. […] Prospective and multicenter research that focuses on the attributes and predictors of the long-term prognosis of patients with HD are necessary.

• #10 Long-term outcomes and quality of life of patients with Hirschsprung disease: a systematic review and meta-analysis | BMC Gastroenterology | Full Text

  https://bmcgastroenterol.biomedcentral.com/articles/10.1186/s12876-020-01208-z

  Advances in surgical techniques and perioperative care have improved the short- and mid-term postoperative outcomes of patients with Hirschsprung disease (HD). However, the long-term outcomes of these patients (older than 10 years) have not been fully investigated. […] The pooled prevalences of fecal incontinence, constipation, and bladder dysfunction symptoms and good to excellent bowel function scores were 0.20 (95% CI 0.130.28), 0.14 (95% CI 0.060.25), 0.07 (95% CI 0.040.12), and 0.95 (95% CI: 0.910.97), respectively; the pooled mean score of gastrointestinal-related quality of life was 118 (95% CI: 112.56123.44). […] HD patients older than ten years old have an overall high prevalence of fecal incontinence and a low quality of life. […] Prospective and multicenter research that focuses on the attributes and predictors of the long-term prognosis of patients with HD are necessary.

• #11 Hirschsprung Disease: Background, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/178493-overview

  Reports of long-term outcomes after definitive repair for Hirschsprung disease are conflicting. Some investigators report a high degree of satisfaction, whereas others report a significant incidence of constipation and incontinence. In general, more than 90% of patients with Hirschsprung disease report satisfactory outcomes; however, many patients experience disturbances of bowel function for several years before normal continence is established. Approximately 1% of patients with Hirschsprung disease have debilitating incontinence requiring a permanent colostomy. […] Total colonic aganglionosis is associated with a poorer outcome, with 33% of patients experiencing persistent incontinence and 14% requiring a permanent ileostomy. Patients with associated chromosomal abnormalities and syndromes also have poorer clinical outcomes.

• #12 Hirschsprung Disease: Background, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/178493-overview

  Reports of long-term outcomes after definitive repair for Hirschsprung disease are conflicting. Some investigators report a high degree of satisfaction, whereas others report a significant incidence of constipation and incontinence. In general, more than 90% of patients with Hirschsprung disease report satisfactory outcomes; however, many patients experience disturbances of bowel function for several years before normal continence is established. Approximately 1% of patients with Hirschsprung disease have debilitating incontinence requiring a permanent colostomy. […] Total colonic aganglionosis is associated with a poorer outcome, with 33% of patients experiencing persistent incontinence and 14% requiring a permanent ileostomy. Patients with associated chromosomal abnormalities and syndromes also have poorer clinical outcomes.

• #13 Long-term outcomes and quality of life in patients with Hirschsprung disease

  https://pmc.ncbi.nlm.nih.gov/articles/PMC11474732/

  Although overall long-term bowel function outcomes seem comparable after endorectal pull-through and Duhamel, some procedure-related differences exist. […] While ileoanal anastomosis with J-pouch has provided promising functional results, further studies are needed to clarify whether inclusion of J-pouch increases the likelihood of obstructive symptoms with associated HAEC. […] Patients with syndromic HSCR with a learning disability due to Down syndrome and Mowat-Wilson syndrome have markedly inferior functional outcomes, reflected by clearly reduced chances to achieve fecal and urinary continence and increased need for permanent stoma (20% of patients) with significant impact on long-term quality of life. […] Although outcomes of most patients with HSCR are encouraging, a minority of them and especially the ones with more extended aganglionosis suffer from significant long-term consequences of the disease.

• #14 Hirschsprung Disease: Background, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/178493-overview

  Reports of long-term outcomes after definitive repair for Hirschsprung disease are conflicting. Some investigators report a high degree of satisfaction, whereas others report a significant incidence of constipation and incontinence. In general, more than 90% of patients with Hirschsprung disease report satisfactory outcomes; however, many patients experience disturbances of bowel function for several years before normal continence is established. Approximately 1% of patients with Hirschsprung disease have debilitating incontinence requiring a permanent colostomy. […] Total colonic aganglionosis is associated with a poorer outcome, with 33% of patients experiencing persistent incontinence and 14% requiring a permanent ileostomy. Patients with associated chromosomal abnormalities and syndromes also have poorer clinical outcomes.

• #15 Hirschsprung Disease: Background, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/178493-overview

  Reports of long-term outcomes after definitive repair for Hirschsprung disease are conflicting. Some investigators report a high degree of satisfaction, whereas others report a significant incidence of constipation and incontinence. In general, more than 90% of patients with Hirschsprung disease report satisfactory outcomes; however, many patients experience disturbances of bowel function for several years before normal continence is established. Approximately 1% of patients with Hirschsprung disease have debilitating incontinence requiring a permanent colostomy. […] Total colonic aganglionosis is associated with a poorer outcome, with 33% of patients experiencing persistent incontinence and 14% requiring a permanent ileostomy. Patients with associated chromosomal abnormalities and syndromes also have poorer clinical outcomes.

• #16 Long-term outcomes and quality of life in patients with Hirschsprung disease

  https://pmc.ncbi.nlm.nih.gov/articles/PMC11474732/

  Although overall long-term bowel function outcomes seem comparable after endorectal pull-through and Duhamel, some procedure-related differences exist. […] While ileoanal anastomosis with J-pouch has provided promising functional results, further studies are needed to clarify whether inclusion of J-pouch increases the likelihood of obstructive symptoms with associated HAEC. […] Patients with syndromic HSCR with a learning disability due to Down syndrome and Mowat-Wilson syndrome have markedly inferior functional outcomes, reflected by clearly reduced chances to achieve fecal and urinary continence and increased need for permanent stoma (20% of patients) with significant impact on long-term quality of life. […] Although outcomes of most patients with HSCR are encouraging, a minority of them and especially the ones with more extended aganglionosis suffer from significant long-term consequences of the disease.

• #17 Long-term outcomes and quality of life in patients with Hirschsprung disease

  https://pmc.ncbi.nlm.nih.gov/articles/PMC11474732/

  Although overall long-term bowel function outcomes seem comparable after endorectal pull-through and Duhamel, some procedure-related differences exist. […] While ileoanal anastomosis with J-pouch has provided promising functional results, further studies are needed to clarify whether inclusion of J-pouch increases the likelihood of obstructive symptoms with associated HAEC. […] Patients with syndromic HSCR with a learning disability due to Down syndrome and Mowat-Wilson syndrome have markedly inferior functional outcomes, reflected by clearly reduced chances to achieve fecal and urinary continence and increased need for permanent stoma (20% of patients) with significant impact on long-term quality of life. […] Although outcomes of most patients with HSCR are encouraging, a minority of them and especially the ones with more extended aganglionosis suffer from significant long-term consequences of the disease.

• #18 Outcomes in Hirschsprung’s disease with coexisting learning disability

  https://pmc.ncbi.nlm.nih.gov/articles/PMC8589745/

  This study describes functional and health-related quality of life (HRQoL) outcomes in patients with Hirschsprungs disease (HSCR) with associated learning disability or neurodevelopmental delay (LD), completing a core outcome set for HSCR. […] Patients with LD had 76% survival over the follow-up period, compared to 99% in the remainder of the cohort. […] Poor functional outcomes were common in the patients with LD, considerably higher than cognitively normal patients: with weekly issues withholding stool, soiling and fecal accidents in over half of patients surveyed (44-60%), and urinary incontinence in 46%. […] Use of permanent stoma was significantly higher (22% vs. 4%; p = 0.001). […] HRQoL was worse in domains of physical functioning in adults and children but not for social or emotional domains in adults.

• #19

  https://link.springer.com/article/10.1007/s00431-021-04129-5

  Our results suggest that patients with LD are nearly 10 times more likely to have a poor functional outcome compared to cognitively normal patients according to a multivariate model controlling for age. […] Understanding the differences in the likely functional outlook after reconstructive surgery and that stoma formation may not be detrimental to QoL in selected patients is important for counselling families regarding the treatment options and for directing management based on individual clinical circumstances. […] The limited number of HSCR patients with LD in this study was an expected limitation of this study of a rare disease; however, the size of the cohort is significant considering the relative paucity of literature available for this patient group. […] Long-term prognosis for continence and eventual use of permanent stoma in patients is a key concern for parents; therefore, we envisage this study will provide both mid- and long-term information for families, which is currently needed.

• #20 Outcomes in Hirschsprung’s disease with coexisting learning disability

  https://pmc.ncbi.nlm.nih.gov/articles/PMC8589745/

  This study describes functional and health-related quality of life (HRQoL) outcomes in patients with Hirschsprungs disease (HSCR) with associated learning disability or neurodevelopmental delay (LD), completing a core outcome set for HSCR. […] Patients with LD had 76% survival over the follow-up period, compared to 99% in the remainder of the cohort. […] Poor functional outcomes were common in the patients with LD, considerably higher than cognitively normal patients: with weekly issues withholding stool, soiling and fecal accidents in over half of patients surveyed (44-60%), and urinary incontinence in 46%. […] Use of permanent stoma was significantly higher (22% vs. 4%; p = 0.001). […] HRQoL was worse in domains of physical functioning in adults and children but not for social or emotional domains in adults.

• #21 Outcomes in Hirschsprung’s disease with coexisting learning disability

  https://pmc.ncbi.nlm.nih.gov/articles/PMC8589745/

  This study describes functional and health-related quality of life (HRQoL) outcomes in patients with Hirschsprungs disease (HSCR) with associated learning disability or neurodevelopmental delay (LD), completing a core outcome set for HSCR. […] Patients with LD had 76% survival over the follow-up period, compared to 99% in the remainder of the cohort. […] Poor functional outcomes were common in the patients with LD, considerably higher than cognitively normal patients: with weekly issues withholding stool, soiling and fecal accidents in over half of patients surveyed (44-60%), and urinary incontinence in 46%. […] Use of permanent stoma was significantly higher (22% vs. 4%; p = 0.001). […] HRQoL was worse in domains of physical functioning in adults and children but not for social or emotional domains in adults.

• #22 Outcomes in Hirschsprung’s disease with coexisting learning disability

  https://pmc.ncbi.nlm.nih.gov/articles/PMC8589745/

  This study describes functional and health-related quality of life (HRQoL) outcomes in patients with Hirschsprungs disease (HSCR) with associated learning disability or neurodevelopmental delay (LD), completing a core outcome set for HSCR. […] Patients with LD had 76% survival over the follow-up period, compared to 99% in the remainder of the cohort. […] Poor functional outcomes were common in the patients with LD, considerably higher than cognitively normal patients: with weekly issues withholding stool, soiling and fecal accidents in over half of patients surveyed (44-60%), and urinary incontinence in 46%. […] Use of permanent stoma was significantly higher (22% vs. 4%; p = 0.001). […] HRQoL was worse in domains of physical functioning in adults and children but not for social or emotional domains in adults.

• #23 Outcomes in Hirschsprung’s disease with coexisting learning disability

  https://pmc.ncbi.nlm.nih.gov/articles/PMC8589745/

  Multivariate analysis demonstrated a dramatically higher incidence of poor continence outcomes in patients with LD (adjusted OR 9.6 [4.023]). […] We provide LD-specific outcomes showing inferior function but similar HRQoL to other patients with HSCR, this is much needed in the counselling of families of these children. […] The overall survival (as of the time of the study) in the 79 patients with LD was 76% (vs. 99% in no LD; logrank HR 15.68 [5.049.0]; p 0.0001). […] Learning disability was added as a covariate to linear regression analysis and a significant correlation between lower BFS and recent episodes of HAEC (p = 0.035) was observed; with LD also a highly significant correlate (p 0.001). […] LD was a significant factor on multivariate analysis for the outcome of poor bowel outcome, defined as BFS 12 or need for permanent stoma or ACE (OR 9.6 [4.023], p 0.001).

• #24

  https://link.springer.com/article/10.1007/s00431-021-04129-5

  Our results suggest that patients with LD are nearly 10 times more likely to have a poor functional outcome compared to cognitively normal patients according to a multivariate model controlling for age. […] Understanding the differences in the likely functional outlook after reconstructive surgery and that stoma formation may not be detrimental to QoL in selected patients is important for counselling families regarding the treatment options and for directing management based on individual clinical circumstances. […] The limited number of HSCR patients with LD in this study was an expected limitation of this study of a rare disease; however, the size of the cohort is significant considering the relative paucity of literature available for this patient group. […] Long-term prognosis for continence and eventual use of permanent stoma in patients is a key concern for parents; therefore, we envisage this study will provide both mid- and long-term information for families, which is currently needed.

• #25 Long-term outcomes and quality of life of patients with Hirschsprung disease: a systematic review and meta-analysis | BMC Gastroenterology | Full Text

  https://bmcgastroenterol.biomedcentral.com/articles/10.1186/s12876-020-01208-z

  Advances in surgical techniques and perioperative care have improved the short- and mid-term postoperative outcomes of patients with Hirschsprung disease (HD). However, the long-term outcomes of these patients (older than 10 years) have not been fully investigated. […] The pooled prevalences of fecal incontinence, constipation, and bladder dysfunction symptoms and good to excellent bowel function scores were 0.20 (95% CI 0.130.28), 0.14 (95% CI 0.060.25), 0.07 (95% CI 0.040.12), and 0.95 (95% CI: 0.910.97), respectively; the pooled mean score of gastrointestinal-related quality of life was 118 (95% CI: 112.56123.44). […] HD patients older than ten years old have an overall high prevalence of fecal incontinence and a low quality of life. […] Prospective and multicenter research that focuses on the attributes and predictors of the long-term prognosis of patients with HD are necessary.

• #26 Long-term outcomes and quality of life in patients with Hirschsprung disease

  https://pmc.ncbi.nlm.nih.gov/articles/PMC11474732/

  Many different aspects of psychosocial and quality of life issues are linked to suboptimal bowel function and fecal control, which necessitates continuation of care and supportive measures by interdisciplinary specialized approach also when patients with HSCR become young adults. […] Additional research is much needed to unravel the underlying pathophysiological mechanisms of the long-term bowel dysfunction to identify novel therapeutic targets for development of more efficient innovative management strategies and thereby improvement of quality of life.

• #27 Long-term outcomes and quality of life of patients with Hirschsprung disease: a systematic review and meta-analysis | BMC Gastroenterology | Full Text

  https://bmcgastroenterol.biomedcentral.com/articles/10.1186/s12876-020-01208-z

  Advances in surgical techniques and perioperative care have improved the short- and mid-term postoperative outcomes of patients with Hirschsprung disease (HD). However, the long-term outcomes of these patients (older than 10 years) have not been fully investigated. […] The pooled prevalences of fecal incontinence, constipation, and bladder dysfunction symptoms and good to excellent bowel function scores were 0.20 (95% CI 0.130.28), 0.14 (95% CI 0.060.25), 0.07 (95% CI 0.040.12), and 0.95 (95% CI: 0.910.97), respectively; the pooled mean score of gastrointestinal-related quality of life was 118 (95% CI: 112.56123.44). […] HD patients older than ten years old have an overall high prevalence of fecal incontinence and a low quality of life. […] Prospective and multicenter research that focuses on the attributes and predictors of the long-term prognosis of patients with HD are necessary.

• #28 Long-term outcomes and quality of life of patients with Hirschsprung disease: a systematic review and meta-analysis | BMC Gastroenterology | Full Text

  https://bmcgastroenterol.biomedcentral.com/articles/10.1186/s12876-020-01208-z

  The purpose of this study is to estimate the prevalences of fecal incontinence, constipation, bowel function, bladder dysfunction symptoms and QoL of patients with HD surgical history who reached ten years old or older. […] The pooled prevalence of fecal incontinence in patients with HD who were older than ten years is 20% (95% CI 0.130.28), which is much higher than that of the general population (1.6% in teenagers and 7.7% in adults). […] The pooled mean GIQLI is 120.19 (95% CI: 117.85122.53), which is higher than the cutoff score (i.e., 105) of constant gastrointestinal symptoms; however, it was lower than the average score of the general population (125.8, 95% CI 121.5127.5), suggesting that although most patients do not have consistent gastrointestinal symptoms, their health-related quality of life is not as good as their healthy peers. […] Compared to the general population, adolescent and adult patients with HD surgical history tend to have a higher prevalence of fecal incontinence and lower gastrointestinal-related quality of life, although these patients generally have satisfactory bowel and urinary function.

• #29 Long-term outcomes and quality of life of patients with Hirschsprung disease: a systematic review and meta-analysis | BMC Gastroenterology | Full Text

  https://bmcgastroenterol.biomedcentral.com/articles/10.1186/s12876-020-01208-z

  The purpose of this study is to estimate the prevalences of fecal incontinence, constipation, bowel function, bladder dysfunction symptoms and QoL of patients with HD surgical history who reached ten years old or older. […] The pooled prevalence of fecal incontinence in patients with HD who were older than ten years is 20% (95% CI 0.130.28), which is much higher than that of the general population (1.6% in teenagers and 7.7% in adults). […] The pooled mean GIQLI is 120.19 (95% CI: 117.85122.53), which is higher than the cutoff score (i.e., 105) of constant gastrointestinal symptoms; however, it was lower than the average score of the general population (125.8, 95% CI 121.5127.5), suggesting that although most patients do not have consistent gastrointestinal symptoms, their health-related quality of life is not as good as their healthy peers. […] Compared to the general population, adolescent and adult patients with HD surgical history tend to have a higher prevalence of fecal incontinence and lower gastrointestinal-related quality of life, although these patients generally have satisfactory bowel and urinary function.

• #30 Outcomes in Hirschsprung’s disease with coexisting learning disability

  https://pmc.ncbi.nlm.nih.gov/articles/PMC8589745/

  This study describes functional and health-related quality of life (HRQoL) outcomes in patients with Hirschsprungs disease (HSCR) with associated learning disability or neurodevelopmental delay (LD), completing a core outcome set for HSCR. […] Patients with LD had 76% survival over the follow-up period, compared to 99% in the remainder of the cohort. […] Poor functional outcomes were common in the patients with LD, considerably higher than cognitively normal patients: with weekly issues withholding stool, soiling and fecal accidents in over half of patients surveyed (44-60%), and urinary incontinence in 46%. […] Use of permanent stoma was significantly higher (22% vs. 4%; p = 0.001). […] HRQoL was worse in domains of physical functioning in adults and children but not for social or emotional domains in adults.

• #31 Outcomes at five to eight years of age for children with Hirschsprung’s disease | Archives of Disease in Childhood

  https://adc.bmj.com/content/106/5/484

  Of the 227 surviving children, 30 (13%) had a stoma and 21 (9%) were incontinent of urine. […] The high rates of faecal incontinence, unplanned procedures and low quality of life scores are sobering. […] The majority of children with HD are likely to have continence issues, and highly likely to have undergone multiple unplanned reoperations. […] The study provides a realistic picture of primary-school aged outcomes, which can be used for the counselling of parents. […] Overall, this study gives a realistic picture of the population outcomes for primary school-aged children with HD in the UK and Ireland. The high rates of faecal incontinence, need for enemas or colonic washouts, unplanned reoperations and low quality of life scores are sobering, and give pause to reflect on the way children with HD are currently managed.

• #32 Outcomes at five to eight years of age for children with Hirschsprung’s disease | Archives of Disease in Childhood

  https://adc.bmj.com/content/106/5/484

  Of the 227 surviving children, 30 (13%) had a stoma and 21 (9%) were incontinent of urine. […] The high rates of faecal incontinence, unplanned procedures and low quality of life scores are sobering. […] The majority of children with HD are likely to have continence issues, and highly likely to have undergone multiple unplanned reoperations. […] The study provides a realistic picture of primary-school aged outcomes, which can be used for the counselling of parents. […] Overall, this study gives a realistic picture of the population outcomes for primary school-aged children with HD in the UK and Ireland. The high rates of faecal incontinence, need for enemas or colonic washouts, unplanned reoperations and low quality of life scores are sobering, and give pause to reflect on the way children with HD are currently managed.

• #33 Outcomes at five to eight years of age for children with Hirschsprung’s disease | Archives of Disease in Childhood

  https://adc.bmj.com/content/106/5/484

  Of the 227 surviving children, 30 (13%) had a stoma and 21 (9%) were incontinent of urine. […] The high rates of faecal incontinence, unplanned procedures and low quality of life scores are sobering. […] The majority of children with HD are likely to have continence issues, and highly likely to have undergone multiple unplanned reoperations. […] The study provides a realistic picture of primary-school aged outcomes, which can be used for the counselling of parents. […] Overall, this study gives a realistic picture of the population outcomes for primary school-aged children with HD in the UK and Ireland. The high rates of faecal incontinence, need for enemas or colonic washouts, unplanned reoperations and low quality of life scores are sobering, and give pause to reflect on the way children with HD are currently managed.

• #34 Outcomes at five to eight years of age for children with Hirschsprung’s disease | Archives of Disease in Childhood

  https://adc.bmj.com/content/106/5/484

  Of the 227 surviving children, 30 (13%) had a stoma and 21 (9%) were incontinent of urine. […] The high rates of faecal incontinence, unplanned procedures and low quality of life scores are sobering. […] The majority of children with HD are likely to have continence issues, and highly likely to have undergone multiple unplanned reoperations. […] The study provides a realistic picture of primary-school aged outcomes, which can be used for the counselling of parents. […] Overall, this study gives a realistic picture of the population outcomes for primary school-aged children with HD in the UK and Ireland. The high rates of faecal incontinence, need for enemas or colonic washouts, unplanned reoperations and low quality of life scores are sobering, and give pause to reflect on the way children with HD are currently managed.

• #35 Long-term outcomes and quality of life in patients with Hirschsprung disease

  https://pmc.ncbi.nlm.nih.gov/articles/PMC11474732/

  Although overall long-term bowel function outcomes seem comparable after endorectal pull-through and Duhamel, some procedure-related differences exist. […] While ileoanal anastomosis with J-pouch has provided promising functional results, further studies are needed to clarify whether inclusion of J-pouch increases the likelihood of obstructive symptoms with associated HAEC. […] Patients with syndromic HSCR with a learning disability due to Down syndrome and Mowat-Wilson syndrome have markedly inferior functional outcomes, reflected by clearly reduced chances to achieve fecal and urinary continence and increased need for permanent stoma (20% of patients) with significant impact on long-term quality of life. […] Although outcomes of most patients with HSCR are encouraging, a minority of them and especially the ones with more extended aganglionosis suffer from significant long-term consequences of the disease.

• #36 Long-term outcomes and quality of life in patients with Hirschsprung disease

  https://pmc.ncbi.nlm.nih.gov/articles/PMC11474732/

  Although overall long-term bowel function outcomes seem comparable after endorectal pull-through and Duhamel, some procedure-related differences exist. […] While ileoanal anastomosis with J-pouch has provided promising functional results, further studies are needed to clarify whether inclusion of J-pouch increases the likelihood of obstructive symptoms with associated HAEC. […] Patients with syndromic HSCR with a learning disability due to Down syndrome and Mowat-Wilson syndrome have markedly inferior functional outcomes, reflected by clearly reduced chances to achieve fecal and urinary continence and increased need for permanent stoma (20% of patients) with significant impact on long-term quality of life. […] Although outcomes of most patients with HSCR are encouraging, a minority of them and especially the ones with more extended aganglionosis suffer from significant long-term consequences of the disease.

• #37 Long-term outcomes and quality of life in patients with Hirschsprung disease

  https://pmc.ncbi.nlm.nih.gov/articles/PMC11474732/

  Although overall long-term bowel function outcomes seem comparable after endorectal pull-through and Duhamel, some procedure-related differences exist. […] While ileoanal anastomosis with J-pouch has provided promising functional results, further studies are needed to clarify whether inclusion of J-pouch increases the likelihood of obstructive symptoms with associated HAEC. […] Patients with syndromic HSCR with a learning disability due to Down syndrome and Mowat-Wilson syndrome have markedly inferior functional outcomes, reflected by clearly reduced chances to achieve fecal and urinary continence and increased need for permanent stoma (20% of patients) with significant impact on long-term quality of life. […] Although outcomes of most patients with HSCR are encouraging, a minority of them and especially the ones with more extended aganglionosis suffer from significant long-term consequences of the disease.

• #38 Long-term outcomes and quality of life in patients with Hirschsprung disease

  https://pmc.ncbi.nlm.nih.gov/articles/PMC11474732/

  Many different aspects of psychosocial and quality of life issues are linked to suboptimal bowel function and fecal control, which necessitates continuation of care and supportive measures by interdisciplinary specialized approach also when patients with HSCR become young adults. […] Additional research is much needed to unravel the underlying pathophysiological mechanisms of the long-term bowel dysfunction to identify novel therapeutic targets for development of more efficient innovative management strategies and thereby improvement of quality of life.

• #39 Hirschsprung’s Disease: What It Is, Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/9844-hirschsprung-disease

  Theres no cure for Hirschsprungs disease, but surgical treatment often results in a positive outcome. […] After surgery, some babies with Hirschsprungs disease may still have constipation, pooping accidents and colon infections. But with long-term follow-up care, most children can manage pooping without becoming severely constipated or developing fecal incontinence.

• #40

  https://link.springer.com/article/10.1007/s00431-021-04129-5

  Our results suggest that patients with LD are nearly 10 times more likely to have a poor functional outcome compared to cognitively normal patients according to a multivariate model controlling for age. […] Understanding the differences in the likely functional outlook after reconstructive surgery and that stoma formation may not be detrimental to QoL in selected patients is important for counselling families regarding the treatment options and for directing management based on individual clinical circumstances. […] The limited number of HSCR patients with LD in this study was an expected limitation of this study of a rare disease; however, the size of the cohort is significant considering the relative paucity of literature available for this patient group. […] Long-term prognosis for continence and eventual use of permanent stoma in patients is a key concern for parents; therefore, we envisage this study will provide both mid- and long-term information for families, which is currently needed.

• #41

  https://link.springer.com/article/10.1007/s00431-021-04129-5

  Our results suggest that patients with LD are nearly 10 times more likely to have a poor functional outcome compared to cognitively normal patients according to a multivariate model controlling for age. […] Understanding the differences in the likely functional outlook after reconstructive surgery and that stoma formation may not be detrimental to QoL in selected patients is important for counselling families regarding the treatment options and for directing management based on individual clinical circumstances. […] The limited number of HSCR patients with LD in this study was an expected limitation of this study of a rare disease; however, the size of the cohort is significant considering the relative paucity of literature available for this patient group. […] Long-term prognosis for continence and eventual use of permanent stoma in patients is a key concern for parents; therefore, we envisage this study will provide both mid- and long-term information for families, which is currently needed.

• #42 Long-term outcomes and quality of life in patients with Hirschsprung disease

  https://pmc.ncbi.nlm.nih.gov/articles/PMC11474732/

  Many different aspects of psychosocial and quality of life issues are linked to suboptimal bowel function and fecal control, which necessitates continuation of care and supportive measures by interdisciplinary specialized approach also when patients with HSCR become young adults. […] Additional research is much needed to unravel the underlying pathophysiological mechanisms of the long-term bowel dysfunction to identify novel therapeutic targets for development of more efficient innovative management strategies and thereby improvement of quality of life.

• #43 Long-term outcomes and quality of life of patients with Hirschsprung disease: a systematic review and meta-analysis | BMC Gastroenterology | Full Text

  https://bmcgastroenterol.biomedcentral.com/articles/10.1186/s12876-020-01208-z

  Advances in surgical techniques and perioperative care have improved the short- and mid-term postoperative outcomes of patients with Hirschsprung disease (HD). However, the long-term outcomes of these patients (older than 10 years) have not been fully investigated. […] The pooled prevalences of fecal incontinence, constipation, and bladder dysfunction symptoms and good to excellent bowel function scores were 0.20 (95% CI 0.130.28), 0.14 (95% CI 0.060.25), 0.07 (95% CI 0.040.12), and 0.95 (95% CI: 0.910.97), respectively; the pooled mean score of gastrointestinal-related quality of life was 118 (95% CI: 112.56123.44). […] HD patients older than ten years old have an overall high prevalence of fecal incontinence and a low quality of life. […] Prospective and multicenter research that focuses on the attributes and predictors of the long-term prognosis of patients with HD are necessary.

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