Anorectal Dysfunction in Patients Suffering From Spina Bifida : From Clinic to Neuro-epithelial Function (ANOSPIN) (ANOSPIN)

Anorectal Dysfunction in Patients Suffering From Spina Bifida : From Clinic to Neuro-epithelial Function (ANOSPIN)

Anorectal Dysfunction in Patients Suffering From Spina Bifida : From Clinic to Neuro-epithelial Function

The purpose of this study is to assess and explain (at least apart) anorectal disorders of patients with Spina Bifida by an automatic neuropathy responsive of enteric nervous system and epithelial barrier dysfunctions. The investigators' aim hypothetics is that autonomic neuropathy of patients with Spina Bifida induce enteric nervous sytem and epithelial barrier dysfunctions which explain anorectal disorders of these patients. Thexpect to show a decreased of 5% of enteric neurons per ganglia.

Spina Bifida is rare disease related to a failure of the closure of neural tube during the embryonic period. This malformation results in a variety of clinical disorders (neurologic, urologic, orthopedic, anorectal), depending on the level of the spinal cord lesion. Anorectal functional disorders remain underestimated and unknown from a pathophysiological point of view with subsequent uncodified therapeutic strategy. Patients with Spina Bifida always present autonomic neuropathy that contributes partially to the anorectal disorders. These disorders may be related to a closed relationship between autonomic and enteric nervous system. Both nervous systems play a key role in anorectal disorders during others neurological disaeses have a common and simultaneous development from neural crest and induce colonic epithelial changes related to the closed connection between epithelial barrier and enteric nervous system. All of this remains hypothetic because no data regarding the impairment of enteric nervous system and epithelial barrier are available and no study are ongoing on this topic.

eligible patients will have physical examination, colonic biopsies during endoscopy and anal manometry with barostat. these investigations are part of the usual healthcare. Colonic biopsies will be used to study intestinal permeability, colonic inflammation and enteric nervous system.

all data will be collected in the Spina Bifida database for further analyses. Colonic biopsies will be used to study intestinal permeability, colonic inflammation and enteric nervous system

Rectal compliance is defined by a volume variation during ascending pressure (phasic distension). It will be performed with a bag connected to electronic barostat.

Sensation intensity will be measured at each pressure step, by using 6-point Likert scale ranging from 0 (no sensation) to 6 (intolerable pain)

Inclusion Criteria: patient aged between 18 and 65 years old patient who consulted to the national Spina Bifida Center for multidisciplinary assessment or for a proctology/urologic clinic need of colonic biopsies during endoscopy free, written and informed consent Exclusion Criteria: pregnancy or breastfeeding protected adults (judicial protection, guardianship and truesteeship) and persons deprived of liberty patient unable to giving their consent anticoagulants therapy or coagulation disorders

Brochard C, Bouguen G, Olivier R, Durand T, Henno S, Peyronnet B, Pagenault M, Lefevre C, Boudry G, Croyal M, Fautrel A, Esvan M, Ropert A, Dariel A, Siproudhis L, Neunlist M. Altered epithelial barrier functions in the colon of patients with spina bifida. Sci Rep. 2022 May 3;12(1):7196. doi: 10.1038/s41598-022-11289-3.