Vis sammendrag
Background
Hirschsprung disease (HD) and anorectal malformations (ARM) are rare congenital colorectal conditions. The surgical correction is usually performed within the first year of life. Although initial management is completed in early childhood, long-term bowel problems extending into adolescence and adulthood are common. Individuals may also experience difficulties related to urinary and sexual function, as well as psychosocial health. Together, these factors can affect daily life, participation in social activities, and engagement in education and work. Despite this, structured approaches to transitional care are not consistently in place. To provide transitional care tailored to patients’ needs, a comprehensive understanding of patient-reported long-term outcomes and experiences is required.
Aim
The overall aim of this thesis was to generate new knowledge on long-term outcomes in patients with HD in order to improve clinical care and support structured transition according to patient needs. More specifically, we examined how different surgical techniques might influence clinical outcomes, particularly bowel function, and whether urinary and sexual function in adolescent males with HD had been affected by the previous pelvic surgery. In addition, adult patients’ experiences of growing up with a rare colorectal disease, as well as their views and recommendations regarding transitional care and patient education programs, were explored.
Methods
Both quantitative and qualitative methods were employed to obtain a comprehensive understanding of long-term outcomes and patient experiences. A retrospective cross-sectional study was conducted in children with HD to compare two different endo-rectal pull-through techniques. Urinary and sexual function in male adolescents with HD was assessed using a validated questionnaire, a urodynamic study, and semi-structured interviews. A systematic review of six databases was performed to identify how bowel function and health-related
quality of life are reported in the HD literature. Focus group interviews with adults with HD from two countries were conducted to explore their experiences of growing up with HD and to identify their needs for long-term follow-up. Finally, experiences with, and evaluations of, a patient education programme for adults with HD and ARM were collected using a studyspecific questionnaire.
Results
Whether the endorectal pull-through operation was performed either total transanally or laparoscopically assisted had limited impact on early complications and long-term bowel function, although differences were observed with poorer results following total transanal operations in the neonatal period and more unplanned procedures after laparoscopically assisted procedures. Modern pull-through operations for HD did not appear to compromise urinary or sexual function in adolescent males. The systematic review revealed considerable variability in how bowel function is assessed in the scientific HD literature. Most studies applied non-validated questionnaires, in contrast to the more consistent use of validated health-related quality of life questionnaires. During the focus group interviews, adult patients described persistent negative effects of HD on both somatic and psychosocial health, and they emphasized the need for structured transitional care, including access to pelvic floor expertise. Few of invited HD and ARM adults participated in the patient education program, but those who attended, highlighted the value of peer support, shared experiences, and information on how their congenital condition might affect somatic and psychosocial functioning.
Conclusion
This thesis demonstrates that HD affects the lives of patients well beyond childhood, and that structured, multidisciplinary transitional care is sought by patients. In particular, access for adults to health care providers with comprehensive expertise in pelvic floor disorders, as well as to peer support, was emphasized. Furthermore, whether the HD pull-through procedure was performed total transanally or laparoscopically assisted did not appear to have a major impact on postoperative outcomes. Modern operative techniques for HD surgery did not impair urinary or sexual function in male adolescents. Finally, the systematic review showed that the reporting of bowel function in the scientific literature needs to be improved in order to enhance the care of patients with HD.