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GI Symptoms and Food-related Behavior in Congenital Neurodevelopmental Syndromes

April 8, 2025 from 1:30 pm to 2:50 pm

In a number of congenital neurodevelopmental syndromes with comorbid intellectual disability (ID), significant percentages of affected individuals experience infant feeding difficulties and childhood gastrointestinal (GI) issues which may persist into adulthood and adversely affect health and quality of life. This includes autism spectrum disorder (ASD), multiple neurogenetic conditions (some with comorbid ASD), and neurodevelopmental syndromes with unknown or viral etiology, such as cerebral palsy (Cooper-Brown et al., 2008; Halladay et al., 2024; Sullivan et al., 2008). Additionally, in some of the same neurodevelopmental syndromes that present with feeding difficulties and failure to thrive in infancy (e.g., Prader-Willi syndrome and Angelman Syndrome), challenging food-related behaviors such as food selectivity and hyperphagia are reported in childhood and adulthood (Salminen, Crespi, & Mokkonen, 2019). These behaviors can also affect growth and health adversely. For example, unchecked hyperphagia can result in obesity and its comorbid health conditions (Heymsfield et al., 2014). Yet the underlying causes of food-related behavior and GI symptoms that are present in multiple neurodevelopmental syndromes, and their relationship to other phenotypic characteristics, are not well understood.
In this symposium, we report on advancements in understanding GI issues and feeding behavior in neurodevelopmental syndromes with comorbid ID. We will present data from two studies that focus on Angelman Syndrome: one that reports on insights into the mechanisms underlying GI issues in Angelman syndrome from a mouse model, and the other reporting infant growth and feeding challenges and longitudinal data on GI and feeding challenges from the Angelman Syndrome Natural History Study. We then report on growth and feeding challenges observed in a longitudinal study of children with congenital Zika syndrome, some of which mirror those reported in the Angelman syndrome literature. Finally, we report on food-related behavior and hyperphagia symptoms in children with three neurogenetic conditions (Prader-Willi Syndrome, Angelman Syndrome, and Williams Syndrome) compared to low-risk controls with no known syndrome. Collectively, these studies contribute to better understanding of phenotypic specificity across neurodevelopmental syndromes that present with food-related behaviors and GI symptomology, shed light on etiology, and set the stage for future research to understand these complex issues.

Chair: Sara Andrews, RTI International,

Discussant: Lynne Bird, University of California San Diego

First Presentation: Exploring Gastrointestinal Issues in Neurodevelopmental Disorders: Exploration of GI problems in Angelman Syndrome as Representation
Taeseon Woo, Department of Molecular Pathobiology, College of Dentistry, New York University, Kara Margolis, Department of Molecular Pathobiology, College of Dentistry, New York University and New York University Grossman School of Medicine

Second Presentation: Gastrointestinal Complexity in Angelman Syndrome: Insights from Longitudinal Analysis
Batsheva Friedman, Boston Children’s Hospital, Adriana Gomes, University of California San Diego and Rady Children’s Hospital
Wen-Hann Tan, Boston Children’s Hospital
Anjali Sadhwani, Boston Children’s Hospital
Angela Gwaltney, RTI International
Anne Wheeler, RTI International
Sarah Nelson Potter, RTI International
Lynne M. Bird, University of California San Diego and Rady Children’s Hospital
Angelman Syndrome Natural History Consortium

Third Presentation: Feeding practice and weight status of children with congenital Zika syndrome: A longitudinal study in Brazil
Hannah Frawley, RTI International,

Fourth Presentation: Specificity of Early Childhood Hyperphagia Profiles in Neurogenetic Conditions
Sara Andrews, RTI International, Anita A. Panjwani, Purdue University
Sara Nelson Potter, RTI International
Lisa R. Hamrick, Purdue University
Anne C. Wheeler, RTI International
Bridgette L. Kelleher, Purdue University