Oropharyngeal Dysphagia in Infants and Children with Infantile Pompe Disease.

Jones, HN

Muller, CW

Lin, M

Banugaria, SG

Case, LE

Li, JS

O'Grady, G

Heller, JH

Kishnani, PS

2023-05-02T13:47:09Z

2023-05-02T13:47:09Z

2009-09

2023-05-02T13:47:08Z

Pompe disease is a rare genetic progressive neuromuscular disorder. The most severe form, infantile Pompe disease, has historically resulted in early mortality, most commonly due to cardiorespiratory failure. Treatment with enzyme replacement therapy (ERT) using alglucosidase alfa (Myozyme((R))) has extended the lifespan of individuals with this disease. With the introduction of ERT and the resultant improved survival, dysphagia is being encountered clinically with increasing regularity though systematic data remain unavailable. We retrospectively studied the oropharyngeal swallowing of 13 infants and children with Pompe disease using videofluoroscopy before initiation of ERT, allowing for baseline swallow function to be established in an untreated cohort. Dysphagia was present in all 13 subjects, even in a participant only 15 days old. Oral stage signs were present in 77%, most frequently a weak suck in 69%. Pharyngeal stage signs were present in 100%, including a pharyngeal swallow delay in 92% and pharyngeal residue in 77%. Airway invasion was present in 76.9% of subjects, including penetration in five (38.46%) and silent aspiration in an additional five (38.46%). No relationship in the relative involvement of swallowing, gross motor function, and cardiac disease appeared to be present.

1432-0460

1432-0460

https://hdl.handle.net/10161/27320

English

Springer Science and Business Media LLC

Dysphagia

10.1007/s00455-009-9252-x

Humans

Deglutition Disorders

Glycogen Storage Disease Type II

Glycogen Storage Disease Type I

Disease Progression

alpha-Glucosidases

Fluoroscopy

Health Status Indicators

Severity of Illness Index

Risk Factors

Retrospective Studies

Time Factors

Video Recording

Infant

Female

Male

Statistics as Topic

Enzyme Replacement Therapy

Oropharyngeal Dysphagia in Infants and Children with Infantile Pompe Disease.

Journal article

Jones, HN|0000-0002-4171-980X

Case, LE|0000-0002-2941-2186

Li, JS|0000-0002-3254-1712

Kishnani, PS|0000-0001-8251-909X

277

283

4

Duke

School of Medicine

Basic Science Departments

Clinical Science Departments

Institutes and Centers

Molecular Genetics and Microbiology

Medicine

Orthopaedic Surgery

Pediatrics

Medicine, Cardiology

Pediatrics, Cardiology

Pediatrics, Medical Genetics

Duke Clinical Research Institute

Institutes and Provost's Academic Units

Initiatives

Orthopaedic Surgery, Physical Therapy

Duke Innovation & Entrepreneurship

Head and Neck Surgery & Communication Sciences

Published

25