Abstract
In order to assess potential associations between autism spectrum disorder (ASD) phenotype, functional GI disorders and fecal microbiota, we recruited simplex families, which had only a single ASD proband and neurotypical (NT) siblings, through the Simons Simplex Community at the Interactive Autism Network (SSC@IAN). Fecal samples and metadata related to functional GI disorders and diet were collected from ASD probands and NT siblings of ASD probands (age 7–14). Functional gastrointestinal disorders (FGID) were assessed using the parent-completed ROME III questionnaire for pediatric FGIDs, and problem behaviors were assessed using the Child Behavior Check List (CBCL). Targeted quantitative polymerase chain reaction (qPCR) assays were conducted on selected taxa implicated in ASD, including Sutterella spp., Bacteroidetes spp. and Prevotella spp. Illumina sequencing of the V1V2 and the V1V3 regions of the bacterial 16S rRNA genes from fecal DNA was performed to an average depth of 208,000 and 107,000 high-quality reads respectively. Twenty-five of 59 ASD children and 13 of 44 NT siblings met ROME III criteria for at least one FGID. Functional constipation was more prevalent in ASD (17 of 59) compared to NT siblings (6 of 44, P = 0.035). The mean CBCL scores in NT siblings with FGID, ASD children with FGID and ASD without FGID were comparably higher (58–62 vs. 44, P < 0.0001) when compared to NT children without FGID. There was no significant difference in macronutrient intake between ASD and NT siblings. There was no significant difference in ASD severity scores between ASD children with and without FGID. No significant difference in diversity or overall microbial composition was detected between ASD children with NT siblings. Exploratory analysis of the 16S rRNA sequencing data, however, identified several low abundance taxa binned at the genus level that were associated with ASD and/or first order ASD*FGID interactions (FDR <0.1).
Highlights
Autism spectrum disorders (ASD) are neurodevelopmental disorders characterized primarily by alterations in reciprocal social interactions and communication as well as repetitive behavior
Families were recruited via a registry called the Simons Simplex Community through the Interactive Autism Network (SSC@IAN), which is composed of simplex families originally recruited to the Simons Simplex Collection that were willing to be contacted through the Interactive Autism Network for additional studies
Families who consented to participate in the study were asked to complete the Pediatric ROME III Version (QPGS-RIII), the GI symptoms form in the Simon Simplex Collection Medical History (v 4.0) [31], the Child Behavior Checklist (CBCL/6-18) [33,34,35,36,37], a one-week food diary for the ASD proband and/or the NT sibling prior to collecting a fecal sample, and provide current information on the child’s height and weight
Summary
Autism spectrum disorders (ASD) are neurodevelopmental disorders characterized primarily by alterations in reciprocal social interactions and communication as well as repetitive behavior. The reported prevalence of ASD has increased and affects 1 in 68 children in the USA [1]. This may be due in part to heightened awareness for these disorders [2,3]. Alterations in the composition of resident gut microbial communities have been reported for an increasing number of human disorders, including ASD and functional GI disorders (FGID) [4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24]. Abnormalities in the neural regulation of gut function and sensation are implicated in the pathogenesis of FGIDs [20,25,26]
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