Longterm Outcomes of Individuals With Anorectal Malformations
Condition: Anorectal Malformations
MeSH terms: Anorectal Malformations; Congenital Abnormalities
Study type: Observational

Summary: 
      This is a cross-sectional observational study with the aim to assess longterm outcomes in a
      large cohort of individuals with anorectal malformations. Patients managed for anorectal
      malformations at Karolinska University Hospital, Stockholm, Sweden, Stockholm 1994-2017 will
      be reviewed and they will be invited to respond to validated questionnaires evaluating bowel
      function (>4 years of age), urinary tract function (>4 years of age), sexual function (>18
      years of age) and quality of life (>8 years of age). Data will be analyzed with descriptive
      and comparative statistics.
    

Detailed description: 
      Background Anorectal malformations comprise a spectrum of congenital anomalies, that range
      from mild anterior displacement of the anus to very complex anomalies, involving both the
      hindgut and the urogenital tract. The birth prevalence in Sweden is approximately 1:3000 (1).
      Associated anomalies are encountered in 50-60 % of individuals with anorectal malformation.
      Anorectal malformations are associated with tethered cord in 20-30% of patients, which may
      impair bowel and urinary tract function. Development of surgical techniques and neonatal care
      have improved survival of children with anorectal malformations over the last decades. The
      focus of care has shifted from survival to optimizing bowel and urinary tract function as
      well as reducing the negative impact on quality of life. Current surgical techniques were
      introduced during the early 1980's. The outcomes compare favorably with older techniques,
      although there is still limited information on the outcomes up to adult age. Particularly,
      there are limited data of composite outcomes of bowel function, urinary tract function,
      sexual function and quality of life in comparison to age- and gender-matched controls from
      the normal population. Newborn infants are often screened for tethered cord with ultrasound.
      It is unclear if infants with normal ultrasound also need an MRI at a later stage to exclude
      spinal cord anomalies. Tethered cord is frequently asymptomatic. There are conflicting data
      with respect to prophylactic de-tethering.

      Aims The overall aim of this project was to assess composite outcomes, bowel function,
      urinary tract function, sexual function, and quality of life in a cross-sectional study of
      children with ARM managed at Karolinska University Hospital.

      Specific aims

        1. To assess if bowel function, urinary tract function, sexual function, and quality of
           life is impaired in children with ARM compared with normative data.

        2. To assess if bowel function, urinary tract function, sexual function and quality of life
           correlate

        3. To assess if individuals with ARM and tethered cord benefit from detethering.

        4. To assess if ultrasound of the spinal cord and MRI are equal imaging modalities to
           diagnose tethered cord.

      Methods Study design Cross-sectional observational study. The STROBE Statement for reporting
      of observational studies will be used (2).

      Settings and participants All individuals managed for an anorectal malformation at Karolinska
      University Hospital from 1994 to 2017 will be eligible for the study. Patients and/or parents
      who provide informed consent and fill in the questionnaires will be included in the study.
      There will be 300-400 eligible patients.

      Data sources and variables Demographic and clinical details will be recorded retrospectively
      from the medical records, including gender, birth weight, gestational age, associated
      syndromes and anomalies, family history, presenting symptoms, type of ARM, surgical details
      including postoperative complications and re-operations. Questionnaires will be sent
      according to age to the participants to assess bowel function, urinary tract function, sexual
      function, and quality of life. Questionnaires on sexual function and quality of life will not
      be sent to individuals with intellectual impairment, eg. Down syndrome. It will be possible
      to respond to the questionnaires using a digital platform. Bowel function will be assessed in
      individuals more than 4 years of age using a bowel function score (BFS) questionnaire (3)
      developed for assessment of bowel function in pediatric anorectal disorders and validated in
      patients and in the general Finnish population (4). Urinary tract function will be assessed
      in individuals more than 4 years of age with a questionnaire on lower urinary tract symptoms,
      with questions addressing history of urinary tract infection, urgency, urge incontinence,
      stress incontinence, straining to begin urination, and leakage of urine without physical
      activity or apparent need to urinate, based on items adapted from the previously validated
      Danish Prostatic Symptom Score. Profile of Sexual Female function will be used to assess
      sexual function in the female patients more than 18 years of age. IIEF will be used to assess
      sexual function in males more than 18 years of age. KIDSCREEN, a validated instrument
      assessing children's and adolescents subjective health and well-being, will be used to assess
      the quality of life in children and adolescents 8 to 18 years of age. In patients more than
      18 years old, Psychological general well-being index (PGWB) will be used to assess quality of
      life. In a sub-study, individuals with tethered cord will be identified. The outcomes among
      patients with tethered cord who have undergone de-tethering will be compared with those who
      have not undergone an operation. In a second sub-study, spinal cord ultrasound and MRI images
      will be reviewed by two experienced pediatric radiologists in a blinded fashion. Correlation
      between the two imaging modalities will be analyzed.

      Data analysis Pseudonymized data will be recorded in Excel spread sheets. Data will be
      analyzed with descriptive and comparative statistics. Matched controls and normative
      population-based data will be used for comparison.

      Ethics Patients and/or caregivers will receive written information about the study and
      provide written informed consent. Data that are entered into the project database will be
      pseudonymized to protect privacy. The benefit of the study are considered to exceed the
      risks.

      Significance The knowledge of long-term outcomes up to adulthood in patients with anorectal
      malformations is limited. Particularly controlled data are scanty. This study may contribute
      important additional understanding and contribute to improved care of individuals with
      anorectal malformations.

      Project timeline Autumn 2020: Ethical approval application. Identification of eligible
      patients. Spring 2021: All patients will be invited to participate and questionnaires sent
      out. Data collection.

      Autumn 2021- 31 December 2026: Data collection. Collected data will be analysed and
      summarized in publications.
    

Observational model: Cohort
Time perspective: Cross-Sectional
Sampling method: Non-Probability Sample
Study population: 
        Individual who have undergone surgical management for anorectal malformations at Karolinska
        University Hospital, Stockholm, Sweden from 1994 to 2017.