Alterations of the intestinal barrier in patients with autism spectrum disorders and in their first-degree relatives

• Published in: Journal of pediatric gastroenterology and nutrition Vol. 51; no. 4; p. 418
• Main Authors: de Magistris, Laura, Familiari, Valeria, Pascotto, Antonio, Sapone, Anna, Frolli, Alessandro, Iardino, Patrizia, Carteni, Maria, De Rosa, Mario, Francavilla, Ruggiero, Riegler, Gabriele, Militerni, Roberto, Bravaccio, Carmela
• Format: Journal Article
• Language: English
• Published: United States 01.10.2010
• Subjects: Abdominal Pain - epidemiology; Analysis of Variance; Child; Child Development Disorders, Pervasive - epidemiology; Child Development Disorders, Pervasive - metabolism; Comorbidity; Constipation - epidemiology; Diarrhea - epidemiology; Enzyme-Linked Immunosorbent Assay; Family; Feces; Female; Humans; Inflammation - epidemiology; Intestinal Diseases - epidemiology; Intestinal Diseases - metabolism; Intestinal Mucosa - metabolism; Intestinal Mucosa - physiopathology; Italy - epidemiology; Leukocyte L1 Antigen Complex - metabolism; Male; Permeability; Italy
• ISSN: 1536-4801
• DOI: 10.1097/MPG.0b013e3181dcc4a5

Intestinal permeability (IPT) was investigated in patients with autism as well as in their first-degree relatives to investigate leaky gut hypothesis. Faecal calprotectin (FC) was also measured in patients with autism, either with or without gastrointestinal symptoms, and in their first-degree relatives. IPT results, assessed by means of the lactulose/mannitol test, were compared with adult and child controls and with FC values. A high percentage of abnormal IPT values were found among patients with autism (36.7%) and their relatives (21.2%) compared with normal subjects (4.8%). Patients with autism on a reported gluten-casein-free diet had significantly lower IPT values compared with those who were on an unrestricted diet and controls. Gastrointestinal symptoms were present in 46.7% of children with autism: constipation (45.5%), diarrhoea (34.1%), and others (alternating diarrhoea/constipation, abdominal pain, etc: 15.9%). FC was elevated in 24.4% of patients with autism and in 11.6% of their relatives; it was not, however, correlated with abnormal IPT values. The results obtained support the leaky gut hypothesis and indicate that measuring IPT could help to identify a subgroup of patients with autism who could benefit from a gluten-free diet. The IPT alterations found in first-degree relatives suggest the presence of an intestinal (tight-junction linked) hereditary factor in the families of subjects with autism.