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Characterization of Initial Gastrointestinal Evaluation of Children with Autism Spectrum Disorder: A Descriptive
Mojdeh Mostafavi1, Wael Sayej2
1Department of Pediatric Gastroenterology & Nutrition, Massachusetts General Hospital, 55 Fruit St, Boston, MA, 02114, USA. mmostafavi1@mgb.org.
Insights
Gastrointestinal issues are common in children with autism spectrum disorder (ASD). Many diagnosed with ASD and GI symptoms received a functional gastrointestinal condition diagnosis after evaluation.
Area of Science:
- Pediatric Gastroenterology
- Neurodevelopmental Disorders
- Autism Spectrum Disorder Research
Background:
- Autism spectrum disorder (ASD) affects 1 in 36 children in the U.S., with high rates of associated gastrointestinal (GI) symptoms.
- Understanding ASD comorbidities like GI issues is crucial due to rising prevalence and costs.
Purpose of the Study:
- To describe the characteristics of pediatric patients with ASD referred for gastroenterology evaluation.
- To analyze referral reasons, evaluation components, and diagnostic outcomes in this population.
Main Methods:
- Retrospective chart review of 131 pediatric patients diagnosed with ASD.
- Data collection focused on referral reasons, evaluation procedures, and results.
Main Results:
- Constipation, abdominal pain, and feeding difficulties were primary referral reasons.
- 60.3% of patients received a functional gastrointestinal condition diagnosis.
- Endoscopic evaluation revealed abnormalities in 40% (grossly) and 40% (pathologically).
Conclusions:
- A significant proportion of children with ASD experience GI symptoms leading to gastroenterology referrals.
- Functional gastrointestinal conditions are frequently diagnosed in this cohort.
- Many patients had abnormal test results, yet functional diagnoses were common, highlighting diagnostic complexity.
Abstract:
Autism spectrum disorder (ASD) is a multifactorial, pervasive neurodevelopmental disorder affecting 1 in 36 children in the United States. Given the rising prevalence and significant economic and social costs associated with ASD, it is critical that continued efforts be made towards better understanding the underlying etiology as well as management of the condition and its commonly associated comorbidities. It has been estimated that upwards of 70% of children with ASD have a positive history of gastrointestinal (GI) symptoms. In this retrospective, descriptive study, we identified 131 patients with diagnosis of autism spectrum disorder who presented for initial evaluation by pediatric gastroenterology at the Baystate Children's Specialty Center. We collected data from chart review of these patients with a particular focus on reason for referral, components of evaluation as well as results of said evaluation. Of the 131 patients, the most frequent reason for referral included constipation (42.7%), abdominal pain (27.5%), and feeding difficulties (26.7%). After completion of the evaluation, 60.3% of patients were ultimately diagnosed with a functional gastrointestinal condition. Of patients who completed endoscopic evaluation, 40% of patients were found to have grossly abnormal and 40% were found to have pathologically abnormal EGD. The majority of patients were recommended to have diagnostic evaluation; however, a large proportion of them were unable to complete said evaluation. The majority of patients were found to have abnormal testing; however, the majority of patients were additionally diagnosed with a functional gastrointestinal condition.
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