Active clinical trials for "Anorectal Malformations"

Transition from paediatric to adult health care is crucial for preventing deterioration of chronic diseases. At present, transitional care (TC) is not established for patients with the Hirschsprung disease (H) and Anorectal Malformations (ARM). To set up a program for TC and to treat persisting symptoms in adults, data on outcome in adult patients are needed. At present such data are very limited. Therefore, we want to investigate clinical and PROM in H and ARM adolescents and adults. A cross sectional study in all H and ARM patients operated in Norway from 1970-2000 and in all adolescents operated at Oslo University Hospital from 2002-2006 will examine somatic, psychosocial and mental health, and quality of life (QoL). In children operated for H and ARM a large body of evidence shows that bowel problems, reduced QoL and impaired psychosocial and mental health are common. There are papers on sexual and urological impairment in these patients, but large studies on the topic is missing. It is a general assumption among paediatric surgeons that both somatic and mental health problems related to H and ARM improve during adolescence and adult life. Therefore, no standardized guidelines for TC in these patients have been established. Interestingly, very few studies have actually examined H and ARM patients beyond adolescence. Reports from patient organizations showing significant long-term sequels and inadequate understanding of the unique problems of H and ARM patients among health professionals treating adults. Hypothesis:H and ARM adults and adolescents have bowel, urinary and sexual difficulties and reduced QoL, psychosocial and mental health. H and ARM adults receive insufficient treatment of their chronic congenital disease. H and ARM patients with syndromes have particularly bad functional outcome. Anal dilatations and repeated rectal enemas have a negative impact on adolescent psychosocial and mental health. Main aim: Acquire knowledge about long-term bowel, urinary and sexual function, QoL and psychosocial and mental health in adult and adolescent H and ARM patients. Results: from this large study of H and ARM patients will have significant influence on treatment and follow-up, both nationally and internationally. Since very few countries except the Nordic countries have the possibility to follow patients with congenital malformations into adulthood, it is important that studies like this are done.

Background Anorectal malformations(ARM) are rare and cover congenital defective development of rectum. ARM include a range of congenital conditions and may in varying degrees involve the anorectum. A significant part have malformations in other organs mainly the urinary tract. In the vast majority ARM are recognized at birth by lack of a normal anus. The primary approach is construction of a stoma and subsequent reconstruction. Bowel continuity is typical restored after 4-6 months. Many patients experience abnormal bowel function later on and affected quality of life(QoL). Aim The primary objective is to assess the patient-related outcome 10-30 years after surgery for ARM and to see if it related to existing damage to anorectum and bowel function. The secondary objective is to identify problems with bowel function which may be treated medically or by surgery to improve bowel function and QoL. To obtain the necessary knowledge the study is divided in the following sub-projects: Assessment of bowel function and QoL through relevant questionnaires Examine sphincter anatomy and function through rectal ultrasound, magnetic resonans(MR)-scan of the pelvis and anal manometry. Bowel function is assessed through colonic transit time. Screening for urinary tract problems with uroflowmetry. Methods Participants are identified through relevant diagnostic codes(Q 42) and patients which underwent surgery for ARM in the years 1985-2005 are included if informed consent is obtained. Relevant questionnaires regarding symptoms and QoL are completed before the following examinations: Anal manometry Anal ultrasound Pudenda conduction velocity Colonic transit time Magnetic resonans(MR)-scan of lower abdomen and pelvis Uroflowmetry Bowel function and QoL is assessed in both children and adults with relevant validated questionnaires. Perspective No danish studies and only a few foreign investigate the relationship between anatomy/physiology and quality of life after surgery for anorectal malformations. The investigators believe the study and included comprehensive examinations will clarify the causes of functional problems after surgery for anorectal malformations. Results of questionnaires regarding symptoms, disease-specific-and general quality of life offer a unique opportunity for targeted treatment to improve symptoms and QoL in patients with ARM.