Zacharias J. de Langen

Quality of life in patients with anorectal malformation or Hirschsprung's disease: Development of a disease-specific questionnaire

PURPOSE: Hirschsprungs disease and anorectal malformation are congenital diseases of the digestive tract with sequelae into adulthood. The quality of life of patients with these diseases is largely unknown. The aim of the study was 1) to construct a self-report disease-specific instrument to assess the quality of life in these patients and 2) to evaluate its psychometric performance. METHODS: An age-specific (6 and 7 years, 8–11 years, 12–16 years, and >17 years) questionnaire called the Hirschsprungs disease/anorectal malformation quality-of-life instrument was constructed. This questionnaire consists of 39 to 42 items, grouped into 10 to 11 scales that cover physical, emotional, and social functions as well as disease-related symptoms. Generic quality-of-life data were obtained in addition. A national sample of 715 patients aged six years and older completed the questionnaire (response rate, 61.9 percent). RESULTS: Multitrait scaling analyses confirmed the hypothesized scale structure with exception of the scales related to diet for the two youngest groups. Cronbachs alpha ranged (with exception of the diet scales) from 0.62 to 0.91 for children (8–11 years), from 0.69 to 0.82 for adolescents (12–16 years) and from 0.57 to 0.91 for adults. Selective scales were able to discriminate between subgroups of adult patients known to differ in disease and disease severity. Relevant scales of the adult version showed substantial correlations (>0.40) with comparable scales of the SF-36. In the two youngest age groups the differences between subgroups of patients were less significant, but in the expected direction. CONCLUSIONS: With the exception of the scales related to diet, the Hirschsprungs disease/anorectal malformation quality-of-life instrument is an instrument with promising reliability and validity, to measure the disease-specific quality of life of patients with anorectal malformation or Hirsch-sprungs disease.

Factors affecting quality of life of children and adolescents with anorectal malformations or Hirschsprung disease

Objectives: First, to compare the quality of life (QL) and perceived self-competence of children and adolescents with anorectal malformations or Hirschsprung disease with that of reference groups. Second, to identify predictors of QL. Patients and Methods: A total of 491 patients with anorectal malformations or Hirschsprung disease were sent a questionnaire, which assessed QL (mental, physical), disease-specific functioning (defecation-related), perceived self-competence (self-esteem, athletic competencies, school attitude), and demographic characteristics (sex, age). The clinical characteristics (disease severity, presence of congenital anomalies) were extracted from medical records. Results: More than 50% (316, 64%) of patients with anorectal malformations or Hirschsprung disease completed the questionnaire. On average, children and adolescents in both patient groups reported no differences in QL domains compared with the reference groups. However, standard deviations revealed considerable individual variation, indicating the presence of patients with high levels of QL as well as patients with low levels of QL. Children and adolescents in both patient groups reported psychosocial problems in all domains, compared with the reference groups. Females, older patients, and those with a severe form of the disease reported lower levels of perceived self-competence and global disease-specific functioning, which in turn predicted QL. Conclusions: Our results should alert clinicians to patients who are at risk for QL problems and may therefore be in need of extra care. Our findings illustrate the importance of both global disease-specific functioning and perceived psychosocial competencies for enhancing the QL of these patients.

Explaining change over time in quality of life of adult patients with anorectal malformations or Hirschsprung's disease

PurposeThe aim of this study was to examine changes in the quality of life of adult patients with anorectal malformations or Hirschsprungs disease over a three-year interval and to identify demographic, clinical, and psychosocial variables that explain possible quality-of-life changes. Understanding the factors that affect changes in quality of life over time is particularly important to provide adequate care.MethodsQuestionnaires were administered to 261 patients (77 percent), with a three-year interval. Background characteristics, including demographic and clinical variables, and psychosocial variables (i.e., self-esteem, mastery, social support, disease cognition) were measured on one occasion. Generic and disease-specific quality of life were measured twice.ResultsOn average patients indicated no change in quality-of-life level after three years. However, variance in the change scores revealed individual variation, indicating the presence of patients who improved and patients who deteriorated. Patients who were female, older, have other congenital diseases, or a stoma reported poorer quality of life over time. The psychosocial variable “disease cognition” most strongly affected the change in quality of life of patients with anorectal malformations or Hirschsprungs disease.ConclusionsOur results could alert clinicians to patients who are at risk for quality-of-life deterioration and might therefore be in need for extra care. Our findings illustrate the importance of psychosocial functioning for enhancing the quality of life over time of these patients.

Partial External Biliary Diversion in Children With Progressive Familial Intrahepatic Cholestasis and Alagille Disease

Background: Partial external biliary diversion (PEBD) is a promising treatment for children with progressive familial intrahepatic cholestasis (PFIC) and Alagille disease. Little is known about long-term outcomes. Patients and Methods: A retrospective chart review of all patients undergoing PEBD in the University Medical Centre of Groningen (UMCG). Results: Between 2000 and 2005, PEBD was performed on 14 children with severe pruritus (PFIC 11, mean age 5.3 ± 4.4 years; Alagille 3, mean age 7.4 ± 4.2 years). Stature was <−2 standard deviation score (SDS) in 50%. Median preoperative serum bile salt concentration was 318 μmol/L (range 23–527 μmol/L). Twenty-nine percent had severe liver fibrosis and 71% had mild or moderate fibrosis. Median follow-up was 3.1 years (range 2.0–5.7 years). One patient (7%) underwent a liver transplantation at 3.2 years post-PEBD. Two years postoperatively, 50% were without pruritus and 21% had mild pruritus. In 29%, pruritus had not diminished; 3 of them had severe fibrosis preoperatively. In patients with mild or moderate fibrosis, PEBD decreased serum bile salts (105 μmol/L [range 8–269 μmol/L] 2 years postoperatively). Bile salts did not decrease in the patients with severe fibrosis. Two years after PEBD, 27% had a stature below −2 SDS. Conclusions: At median follow-up of 3.1 years after PEBD, pruritus has been relieved in 75%. Bile salts level and growth are improved in most patients. Longer follow-up is needed to determine whether PEBD can postpone or avoid the demand for liver transplantation.

Mortality of biliary atresia in children not undergoing liver transplantation in the Netherlands

de Vries W, de Langen ZJ, Aronson DC, Hulscher JBF, Peeters PMJG, Jansen‐Kalma P, Verkade HJ also on behalf of NeSBAR. Mortality of biliary atresia in children not undergoing liver transplantation in the Netherlands.
Pediatr Transplantation 2011: 15:176–183.

Anorectal malformations: does healthcare meet the needs?

Objectives: The first aim was to identify the types of healthcare services used by children, adolescents, and adults with anorectal malformation (ARM) in relation to the severity of their disease and to examine whether additional care was needed. The second aim was to evaluate specific areas in the healthcare system, including provided information, transfer from pediatric to adult care, and satisfaction with the provided care. Methods: Three hundred eighty-six (61%) patients with ARM, ages 6 to 52, completed a questionnaire that assessed their use of healthcare services and the need for additional services. Also, questions were asked about specific areas in the healthcare system. Clinical and sociodemographic characteristics were extracted from medical records. Results: In the preceding 6 months 50% of the children, 24% of the adolescents, and 24% of the adults consulted a medical specialist. Compared with patients with a mild form of ARM in the age range of 6 to 16 years, the more severely afflicted patients visited medical professionals more often (18% vs. 32%). Particularly, adolescents in the age range of 12 to 16 years with a severe form of the disease more often visited the pediatric surgeon than their peers with a mild form (2% vs. 16%). Twenty-three percent of the children, 7% of the adolescents, and 8% of the adults consulted a nonmedical professional. Twenty percent of the children, 13% of the adolescents, and 17% of the adults would have liked additional or more treatment of a nonmedical professional. In 6 months, 40% of the children, 24% of the adolescents, and 20% of the adults received treatment information. One third of the adult patients who were transferred to “adult” surgeons encountered transfer problems. Almost all patients were satisfied with the care provided. Conclusions: There is good access to medical healthcare services, especially for children. However, more psychosocial and paramedical care is considered necessary. As could be expected, children and adolescents with a severe form of the disease reported to have visited a medical specialist more often. Although healthcare for patients with ARM may be improved at certain points, most parents and patients were very satisfied with the care provided.

A two-center comparative study of gastric pull-up and jejunal interposition for long gap esophageal atresia

PURPOSE When restoration of the anatomical continuity in case of long gap esophageal atresia (LGEA) is not feasible, esophageal replacement surgery becomes mandatory. The aim of this paper is to critically compare the experience of two tertiary referral centers in The Netherlands performing either gastric pull-up (GPU) or jejunal interposition (JI). METHODS Retrospective chart review of all the patients with LGEA who underwent GPU in the University Medical Center Groningen and JI in the University Medical Center Utrecht. Main endpoints were short term morbidity, mortality and long term functional outcome (digestive functioning and growth). Descriptive analyses conducted using Mann-Whitney U test for continuous variables and Fishers exact test for categorical variables. RESULTS Nine children underwent GPU and 15 JI. Median age (years) at last follow up was fourteen (GPU) and eight (JI). One patient died, 10 years after JI. No grafts were lost. Perioperative anastomotic complications were reported more often after JI (73% vs. 22%, p=0.03). However reintervention rate was the same in both groups (33%). Among long term outcomes, functional obstruction was not registered after GPU, while it was recorded in 46% after JI (p=0.02). No other significant differences were found apart from some tendencies concerning full oral nutrition and gastroesophageal reflux (GPU>JI). CONCLUSION Comparative data from this study reveal no mortality but significant morbidity in both groups. No graft was lost. Although not statistically different as a result of small patient numbers, clinically important differences regarding gastrointestinal system were noted. Growth should be monitored closely in both groups.

Cervical cystic swelling in an adolescent : unusual association of a cervical mature teratoma with vertebral anomalies and a history of gastric duplication cyst

A 14-year-old girl presented with a cervical cystic swelling in association with deformity of cervical vertebrae. As a child, she had been treated for gastric duplication. Pathologic examination of the resected cervical swelling revealed a mature teratoma. We discuss possible embryologic associations, which could explain the unusual combination of a mature teratoma with vertebral anomalies and gastric duplication.