From the bench to the ‘crib’‐side: implications of scientific advances to paediatric neurogastroenterology and motility

Abstract

Paediatric gastrointestinal motility disorders may present in the neonatal period as the result of a congenital insult that occurred during embryonic development or as a manifestation of an abnormal genetic background. Functional gastrointestinal and motility disorders may also be acquired and present during childhood as the first presentation of a condition that can persist or re-occur throughout adolescence and adulthood. These disorders can have a significant psychological and financial impact on the lives of the affected children and their families. Recently, enteric neuroscience research has advanced the understanding of the pathogenesis and treatment of uncommon congenital or developmental gastrointestinal motility disorders such as Hirschsprung disease and chronic intestinal pseudo-obstruction. In addition, research has contributed to improvements in the understanding of more prevalent functional gastrointestinal disorders in children, such as chronic constipation and functional abdominal pain syndromes. The purpose of this review is to highlight these advances with particular regard to the clinical impact they have in the understanding and management of disorders in the field of paediatric neurogastroenterology and motility.

Loss of HCN2 leads to delayed gastrointestinal motility and reduced energy intake in mice

“…Decreased gut motility can be an incredibly distressing symptom that manifests during the course of many diseases. While primary dysmotility disorders, such as Chronic Intestinal Pseudo-obstruction (CIP) and Hirchsprung’s diease[ 39 ], can lead to anorexia and weight loss, secondary gut dysmotility is common in numerous other diseases, including diabetes[ 40 , 41 ], Parkinson’s Disease[ 42 , 43 ], and severe illness resulting in ICU admittance[ 44 ]. The impact of GI motility in these diseases can be quite severe, as many patients with gasteroparesis lose >10% of their body weight and 40% of those with gasteroparesis are resistant to pharmacotherapy[ 45 ].…”

Meta‐analysis: a functional polymorphism in the gene encoding for activity of the serotonin transporter protein is not associated with the irritable bowel syndrome

“…Moreover, studies were conducted in various populations, different criteria were used for the definition of IBS and the sample sizes included were relatively small. By combining all these data in this structured analysis, considerable sample Total 64 Reviews, overview or commentaries 26 Study in children 47, 48 2 Subjects did not have IBS [49][50][51] 3 No SERT-P polymorphism assessed, or incomplete data about polymorphism [52][53][54][55][56][57][58][59][60][61][62][63][64][65][66][67][68][69][70][71] 20 Animal studies [72][73][74][75][76][77][78][79][80][81] 10 Unfamiliar foreign language 82 1 No healthy control population included 9, 12 2 Included 10, 11, 13-16, 83, 84 8 IBS, irritable bowel syndrome. sizes were obtained and it was shown that there is no association between the genetic polymorphism encoding for SERT-P activity and IBS.…”

Regulation of SRF/CArG‐dependent gene transcription during chronic partial obstruction of murine small intestine

“…Several congenital and acquired digestive tract motility disorders are associated with localized lumenal obstructions. 1,2 Partial obstruction of the lumen induces intestinal distention, and increased muscle layer thickness oral to the obstruction in response to the increased functional demands. 3 Animal models of intestinal obstruction, in which a constricting ring is placed around the small intestine, have provided a wealth of experimental data detailing the morphological, histological, ultrastructural and bio-mechanical changes that occur in obstructed intestinal smooth muscles.…”