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Analysis of Parental Perception of Swallowing and Voice in Infants and Children with Pompe Disease

Cecchi, Alana

Abstract Details

2011, MS, University of Cincinnati, Medicine: Genetic Counseling.
Pompe disease is an autosomal recessive lysosomal storage disease caused by a deficiency of the enzyme acid a-glucosidase (GAA). It is a heterogeneous neuromuscular condition which is classified into several different phenotypes based on the age of onset, severity of condition, and average age of death. If untreated, the most severe form typically results in death within the first year of life. With the advent of enzyme replacement therapy for Pompe disease, clinical manifestations of oropharyngeal swallowing and voice dysfunction have become increasingly apparent as individuals with Pompe disease are living longer. This study investigated the parental perspective of feeding, swallowing, and voice dysfunction in a cohort of 15 infants and children with Pompe disease using a parent questionnaire. Results indicated clinical signs and symptoms of oropharyngeal dysfunction reported in 63% of our cohort. Feeding-related quality of life issues were reported by 50% of parents/caregivers. Voice quality reportedly affected the overall well-being and development in 86% of the study population. This study documents the significance of feeding, swallowing, and voice dysfunction experienced by infants and children with Pompe disease.
Thomas Burrows, MD (Committee Chair)
Laurie Bailey, MS (Committee Member)
Nancy Doan Leslie, MD (Committee Member)
Claire Miller, PhD (Committee Member)
34 p.

Recommended Citations

Citations

  • Cecchi, A. (2011). Analysis of Parental Perception of Swallowing and Voice in Infants and Children with Pompe Disease [Master's thesis, University of Cincinnati]. OhioLINK Electronic Theses and Dissertations Center. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1307125630

    APA Style (7th edition)

  • Cecchi, Alana. Analysis of Parental Perception of Swallowing and Voice in Infants and Children with Pompe Disease. 2011. University of Cincinnati, Master's thesis. OhioLINK Electronic Theses and Dissertations Center, http://rave.ohiolink.edu/etdc/view?acc_num=ucin1307125630.

    MLA Style (8th edition)

  • Cecchi, Alana. "Analysis of Parental Perception of Swallowing and Voice in Infants and Children with Pompe Disease." Master's thesis, University of Cincinnati, 2011. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1307125630

    Chicago Manual of Style (17th edition)