Gastrointestinal disease in children with autism spectrum disorders: Etiology or consequence?

Abstract

Chronic gastrointestinal (GI) symptoms and disorders are common in children with autism spectrum disorder and have been shown to be significantly correlated with the degree of behavioral and cognitive impairment. In this unique population, GI symptoms often arise very early in development, during infancy or toddlerhood, and may be misdiagnosed - or not diagnosed at all - due in part to the challenges associated with recognition of symptoms in a minimally or non-communicative child. Evidence demonstrating that the gut-brain-axis can communicate gut dysbiosis and systemic immune dysregulation in a bidirectional manner raises the question as to whether an untreated gastrointestinal disorder can directly impact neurodevelopment or, conversely, whether having a neurodevelopmental disorder predisposes a child to chronic GI issues. From the data presented in this mini review, we conclude that the preponderance of available evidence would suggest the former scenario is more strongly supported.

Keywords: Autism spectrum disorder; Gastrointestinal disease; Immune dysregulation; Neurodevelopment.

Figure 1

Pillcam images from the small bowel of a gastrointestinal-symptomatic patient with autism spectrum disorder. Lymphangiectasia in patient with autism spectrum disorder-associated enteritis (left panel, black arrow); the patient also exhibited aphthous ulcerations (orange arrows); Jejunal lymphangiectasia (orange arrows) in adjacent mucosa of same patient (right panel).

Figure 2

Endoscopic image of white spot lesions of the proximal small bowel in a gastrointestinal-symptomatic child with autism spectrum disorder.

Figure 3

Histologic staining of a mucosal biopsy specimen from the proximal small bowel of a patient with autism spectrum disorder-associated enteritis. White spot lesions (truncated villi) can be seen in low (left); medium (middle); and high magnification (right) of the H&E-stained images.

Figure 4

Schematic diagram depicting pathological findings in a portion of the gastrointestinal tract of a representative gastrointestinal-symptomatic child with autism spectrum disorder[9,11,12,16,17,19,20,22,23,26,27,28,30,34,46,52,53]. Key landmarks are identified in the legend (#1-7) and key findings are described throughout the diagram.