Abstract

This study evaluates the prevalence of autistic behaviors in fragile X syndrome as a function of infant diet. Retrospective survey data from the Fragile X Syndrome Nutrition Study, which included data on infant feeding and caregiver-reported developmental milestones for 190 children with fragile X syndrome enrolled in the Fragile X Online Registry with Accessible Database (FORWARD), were analyzed. Exploratory, sex-specific associations were found linking the use of soy-based infant formula with worse autistic behaviors related to language in females and self-injurious behavior in males. These findings prompt prospective evaluation of the effects of soy-based infant formula on disease comorbidities in fragile X syndrome, a rare disorder for which newborn screening could be implemented if there was an intervention. Gastrointestinal problems were the most common reason cited for switching to soy-based infant formula. Thus, these findings also support the study of early gastrointestinal problems in fragile X syndrome, which may underly the development and severity of disease comorbidities. In conjunction with comorbidity data from the previous analyses of the Fragile X Syndrome Nutrition Study, the findings indicate that premutation fragile X mothers should be encouraged to breastfeed.

Highlights

  • Autism is a complex neurological disorder with core features of impaired communication and social interaction and repetitive stereotypical behavior [1]

  • The retrospective survey findings reported suggest that the consumption of soy-based infant formula is associated with deficits in language, repetitive behavior and self-injurious behavior in fragile X syndrome (FXS)

  • In conjunction with the previous analyses of the questionnaire, the findings indicate that breastmilk is associated with improved outcomes in FXS compared to soy-based infant formula and that mothers should be encouraged to breastfeed

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Summary

Introduction

Autism is a complex neurological disorder with core features of impaired communication and social interaction and repetitive stereotypical behavior [1]. Recent prevalence estimates indicate that 1 in 54 children in the United States have an autism spectrum disorder (ASD), with rates 4.3-fold higher in males compared to females [2]. In the majority of cases, the underlying cause of the ASD is not known; genetic as well as environmental factors are suspected to contribute to the development and severity of autism [4,5,6,7]. FXS is the leading known genetic cause of autism, with half of males and approximately 20% of females with FXS meeting autism diagnostic criteria and accounting for 5% of autism cases [8,9,10]. There is a dearth of studies assessing the effects of environment on ASD and FXS phenotypes, albeit accumulating evidence suggests that postnatal diet is associated with seizure and autistic behavioral outcomes in autism and FXS models

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