Anorectal Malformation
Conditions
Keywords
Anorectal malformation, fecal incontinence, quality of life, child
Brief summary
Anorectal malformations, occurring approximately 1 in 5000 live births, mainly involve the distal anus and rectum, but also sometimes the urinary and genital tracts. Defects range from the minor and easily treated with an excellent functional prognosis, to those that are complex and often associated with a poor functional prognosis. Despite the better knowledge of the anatomy and physiology and the improvement of surgical management after birth, fecal and urinary incontinence can occur, due mainly to deficient nerve supply. The quality of life of such patients is largely unknown in this country. The aim of the investigators study is to propose specific and generic questionnaires to the patients registered in the national database, correlated to their anatomical and functional status. A better understanding of such correlations should allow improvements in their medical and social management.
Detailed description
Anorectal malformations (ARM), occurring approximately 1 in 5000 live births, mainly involve the distal anus and rectum, but also sometimes the urinary and genital tracts. Defects range from the minor and easily treated with an excellent functional prognosis, to those that are complex and often associated with a poor functional prognosis. Despite the better knowledge of the anatomy and physiology and the improvement of surgical management after birth, fecal and urinary incontinence can occur, due mainly to deficient nerve supply. A few studies and clinical practice have shown that disease-specific problems of ARM have an effect on somatic function, mental health and psychosocial functioning. The assessment of quality of life requires a self-report questionnaire composed of items related to physical, emotional and social functioning, and disease-related symptoms. A specific ARM questionnaire, the HAQL, was developed by a Dutch team and published in 2001. Associated with generic questionnaire, it allowed quality of life assessment in Dutch population. The quality of life of such patients is largely unknown in this larger country. The aim of the investigators study is to propose specific (HAQL translated from Dutch to French) and generic questionnaires to the patients registered in the national database, correlated to their anatomical and functional status. A better understanding of such correlations should allow improvements in their medical and social management.
Interventions
OTHERQuality of life questionnaire
Sponsors
MAREP ( Center For Rare Diseases Center Ano-Rectal And Pelvic Abnormalities)
Nantes University Hospital
Study design
Observational model
CASE_ONLY
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
6 Years to 30 Years
Healthy volunteers
No
Inclusion criteria
* Patients who are between 6 and 30 years old * Patients initially treated in a french pediatric surgery service for anorectal malformation
Exclusion criteria
* Patients lost from sight or dead * Patients with concomitant malformations that can modify sphincter functions besides anorectal malformation (spina bifida, ) * Patients whose brain functions do not allow to reply to a questionnaire (mental retardation)
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Quality of life measured by HAQL specific questionnaire and two generic questionnaires: VSPA for children or WHOQOL-BREF for adults; functional status measured by Krickenbeck score | At the time of the inclusion | HAQL: between 35 and 48 items (depending on the age of the patients) composing 8 dimensions; VSPA: 39 items composing 8 dimensions; WHOQOL-BREF: 26 items composing 4 dimensions; Krickenbeck: 3 items. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Kind of malformation, associated malformation, sequelas, handicap degree, social integration | At the time of the inclusion | Clinical questionnaire |
Countries
France
Outcome results
None listed