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Audiologic evaluations of children with mucopolysaccharidosis
Çağıl Gökdoğan1, Şenay Altinyay1, Ozan Gökdoğan2
1Department of Audiology, Gazi University Hospital, Ankara, Turkey.
Introduction:
Mucopolysaccharidosis is a hereditary lysosomal storage disease, which develops due to a deficiency in the enzymes that play a role in the metabolism of glycosaminoglycans (GAG). The incidence of mucopolysaccharidosis is 1/25,000, with autosomal recessive inheritance (except for MPS II). Mucopolysaccharidosis occurs in seven different types, each with a different congenital deficiency of lysosomal enzymes. In mucopolysaccharidosis patients, even though progression of clinical findings is not prominent, the disease advances and causes death at early ages. Facial dysmorphism, growth retardation, mental retardation, and skeletal or joint dysplasia are the most frequently found symptoms in these patients.
Objective:
The purpose of our study is to present the types of hearing loss types and tympanometric findings of patients with mucopolysaccharidosis referred to our clinic with suspicion of hearing loss.
Methods:
After otorhinolaryngological examination, 9 patients with different types of mucopolysaccharidosis, underwent to immittance and audiometric evaluations, performed according to their physical and mental abilities, and ages, in order to determine their hearing thresholds.
Results:
The audiometric findings of the 9 patients followed with mucopolysaccharidosis were reported separately for each case.
Conclusion:
Based on the high frequency of hearing loss in mucopolysaccharidosis patients, early and detailed audiological evaluations are highly desirable. Therefore, regular and systematic multidisciplinary evaluations are very important.
Insights
Mucopolysaccharidosis (MPS) patients frequently experience hearing loss. Early audiological evaluations are crucial for managing this rare genetic disorder and improving patient outcomes.
Area of Science:
- Genetics and Metabolic Disorders
- Otolaryngology
- Audiology
Background:
- Mucopolysaccharidosis (MPS) is a group of rare genetic lysosomal storage diseases.
- Caused by enzyme deficiencies impacting glycosaminoglycan (GAG) metabolism.
- Characterized by facial dysmorphism, growth and mental retardation, and skeletal abnormalities.
Purpose of the Study:
- To investigate hearing loss and tympanometric findings in patients with various types of mucopolysaccharidosis.
- To highlight the audiological profile of MPS patients presenting with suspected hearing impairment.
Main Methods:
- Otorhinolaryngological examinations were conducted on 9 MPS patients.
- Immittance and audiometric evaluations were performed.
- Assessments were tailored to each patient's physical, mental, and age-related capabilities.
Main Results:
- Audiometric findings were detailed for each of the 9 mucopolysaccharidosis patients.
- The study documented specific types of hearing loss and tympanometric results.
Conclusions:
- Hearing loss is a common complication in mucopolysaccharidosis.
- Early and comprehensive audiological assessments are essential for MPS patients.
- Regular, systematic, multidisciplinary evaluations are vital for managing MPS.
