High Rates of Dysphagia and Silent Aspiration in Infants With Prader‐Willi Syndrome
Respiratory comorbidities and choking risk are well-known in Prader-Willi Syndrome (PWS), but only a few studies have investigated PWS-related swallow dysfunction. We aimed to characterize the prevalence of swallow dysfunction, including dysphagia, aspiration, and aspiration risk factors (penetration or residue) on videofluoroscopic swallow study (VFSS) in infants with PWS at Cook Children's Medical Center (CCMC) who had their first VFSS done at age less than 12 months. If serial VFSS were performed or if the patient also had a bedside swallow study (BSS), data from all were investigated. Patients were stratified by aspiration status on 1st VFSS (aspirator versus non-aspirator). Associated clinical characteristics were assessed. Forty-one total swallow studies were performed for 18 patients with PWS: 36 VFSS and 5 BSS. Dysphagia was present in 100% of patients on their 1st VFSS and in 100% of BSS. Aspiration was present in 33.3% of all VFSS and was always silent. Further studies are needed to understand the long-term implications of swallow dysfunction in children with PWS.
Authors
- Sani M. Roy (ORCID: https://orcid.org/0000-0001-6622-7521)
- Kristen Taylor (ORCID: https://orcid.org/0000-0001-9408-2980)
- Jennifer McReynolds
- Althea C. G. Neblett
- Amy Trejo (ORCID: https://orcid.org/0009-0000-1564-8123)
- Yvette R. Johnson
- Andrea Fagerman
- Keisha Shaheed
Institutions
- University of North Texas (US)
- Texas Christian University (US)
- University of North Texas Health Science Center (US)
- Cook Children's Medical Center (US)
Publication Details
- Journal
- American Journal of Medical Genetics Part A
- Published
- 2025-05-23
- DOI
- https://doi.org/10.1002/ajmg.a.64121
- Citations
- 2
- Primary Topic
- Genetic Syndromes and Imprinting
- Type
- article
- Field-Weighted Citation Impact
- 3.63