National Study on the Quality of Life of Patients With Anorectal Malformation
Condition: Anorectal Malformation
MeSH terms: Anorectal Malformations; Congenital Abnormalities
Study type: Observational

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.
    

Intervention name(s): Quality of life questionnaire
Intervention type(s): Other
Observational model: Case-Only
Time perspective: Cross-Sectional
Sampling method: Non-Probability Sample
Study population: 
        Patients initially treated in a french pediatric surgery service for anorectal malformation
      
Keywords: Anorectal malformation; fecal incontinence; quality of life; child