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Semin Neurol 2023; 43(04): 645-660
DOI: 10.1055/s-0043-1771460
Review Article

Gastrointestinal Dysfunction in Genetically Defined Neurodevelopmental Disorders

Elizabeth A. Davidson
1   Department of Biology, University of Miami, Coral Gables, Miami, Florida
,
Calliope Holingue
2   Center for Autism and Related Disorders, Kennedy Krieger Institute, Baltimore, Maryland
3   Department of Mental Health, Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland
,
Andres Jimenez-Gomez
4   Neuroscience Center, Joe DiMaggio Children's Hospital, Hollywood, Florida
5   Department of Child Neurology, Florida Atlantic University Stiles - Nicholson Brain Institute, Jupiter, Florida
,
Julia E. Dallman
1   Department of Biology, University of Miami, Coral Gables, Miami, Florida
,
Baharak Moshiree
6   Atrium Health, Wake Forest Medical University, Charlotte, North Carolina
› Institutsangaben
Funding The pilot study was funded by NIH R21HD093021 to J.E.D. and B.M. and our Wake Forest Shark Tank Grant to Jessica Sang was a GI fellow that worked with Dr. Moshiree Mentor for this project was Dr. Moshiree. She did not have authorship.
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Abstract

Gastrointestinal symptoms are common in most forms of neurodevelopment disorders (NDDs) such as in autism spectrum disorders (ASD). The current patient-reported outcome measures with validated questionnaires used in the general population of children without NDDS cannot be used in the autistic individuals. We explore here the multifactorial pathophysiology of ASD and the role of genetics and the environment in this disease spectrum and focus instead on possible diagnostics that could provide future objective insight into the connection of the gut-brain-microbiome in this disease entity. We provide our own data from both humans and a zebrafish model of ASD called Phelan-McDermid Syndrome. We hope that this review highlights the gaps in our current knowledge on many of these profound NDDs and that it provides a future framework upon which clinicians and researchers can build and network with other interested multidisciplinary specialties.

Keywords

gastrointestinal - autism spectrum disorders - neurodevelopmental disorders - abdominal pain - constipation - transit testing


Publikationsverlauf

Artikel online veröffentlicht:
16. August 2023

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