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Comprehensive Manometric Evaluation of Dysphagia in Patients with Down Syndrome

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Abstract

Dysphagia is a common symptom in children with Down syndrome and is conventionally evaluated with imaging and endoscopy; high-resolution manometry is not routinely utilized. The aim of this study was to describe and correlate pharyngeal and esophageal manometry findings with contrast studies and endoscopy in patients with Down syndrome and dysphagia. Electronic medical records of patients with Down syndrome with dysphagia seen at our center between January 2008 and January 2022 were reviewed. Data collected included demographics, co-morbidities, symptoms, imaging, endoscopy, and manometry. Twenty-four patients with Down syndrome [median age of 14.9 years (IQR 7.6, 20.5), 20.8% female] met inclusion criteria. Common presenting symptoms of dysphagia included vomiting or regurgitation in 15 (62.5%) patients, and choking, gagging, or retching in 10 (41.7%) patients. Esophageal manometry was abnormal in 18/22 (81.2%) patients. The most common findings were ineffective esophageal motility in 9 (40.9%) followed by esophageal aperistalsis in 8 (36.4%) patients. Rumination pattern was noted in 5 (22.8%) patients. All 6 (25%) patients who previously had fundoplication had esophageal dysmotility. Strong agreement was noted between upper gastrointestinal studies and high-resolution esophageal manometry (p = 1.0) but no agreement was found between pharyngeal manometry and video fluoroscopic swallow studies (p = 0.041). High-resolution pharyngeal and esophageal manometry provide complementary objective data that may be critical in tailoring therapeutic strategies for managing patients with Down syndrome with dysphagia.

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Abbreviations

EGD:

Esophagogastroduodenoscopy

GERD:

Gastroesophageal reflux disease

RPM:

High-resolution pharyngeal manometry

HREM:

High-resolution esophageal manometry

IEM:

Ineffective esophageal motility

UGI:

Upper gastrointestinal series

VFSS:

Video-fluoroscopic swallow studies

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Funding

No funding was secured for this study.

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Authors and Affiliations

  1. Division of Gastroenterology, Hepatology and Nutrition, Cincinnati Children’s Hospital Medical Center, 3333 Burnet Avenue Cincinnati, Cincinnati, OH, 45229, USA

    Lev Dorfman, Serena Kaul, Khalil El-Chammas & Ajay Kaul

  2. Internal Medicine, University of Missouri Kansas City School of Medicine, Kansas City, MO, USA

    Vinay Jahagirdar

  3. University of Cincinnati College of Medicine, Cincinnati, OH, USA

    Khalil El-Chammas & Ajay Kaul

Authors
  1. Lev Dorfman
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  2. Vinay Jahagirdar
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  3. Serena Kaul
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  4. Khalil El-Chammas
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Correspondence to Lev Dorfman.

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Dorfman, L., Jahagirdar, V., Kaul, S. et al. Comprehensive Manometric Evaluation of Dysphagia in Patients with Down Syndrome. Dysphagia 38, 1589–1597 (2023). https://doi.org/10.1007/s00455-023-10586-x

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  • DOI: https://doi.org/10.1007/s00455-023-10586-x

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