Chien-Yu Hsueh1,2,3,4, Chii-Yuan Huang2,3, Chia-Feng Yang5,6, Chia-Chen Chang7, Wei-Sheng Lin5, Hsiu-Lien Cheng2,8, Shang-Liang Wu9, Yen-Fu Cheng10,11,12,13,14, Dau-Ming Niu15,16. 1. Department of Otorhinolaryngology-Head and Neck Surgery, Taipei Veterans General Hospital Yuli Branch, Hualien County, Taiwan. 2. Department of Otolaryngology-Head and Neck Surgery, Taipei Veterans General Hospital, Taipei, Taiwan. 3. Faculty of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan. 4. Institute of Brain Science, National Yang Ming Chiao Tung University, Taipei, Taiwan. 5. Department of Pediatrics, Taipei Veterans General Hospital, No. 201, Sec. 2, Shipai Rd., Beitou District, Taipei City, 11217, Taiwan. 6. School of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan. 7. Department of Speech Language Pathology and Audiology, National Taipei University of Nursing and Health Sciences, Taipei, Taiwan. 8. Department of Biomedical Engineering, National Yang Ming Chiao Tung University, Taipei, Taiwan. 9. Department of Medical Research, Taipei Veterans General Hospital, No. 201, Sec. 2, Shipai Rd., Beitou District, Taipei City, 11217, Taiwan. 10. Department of Otolaryngology-Head and Neck Surgery, Taipei Veterans General Hospital, Taipei, Taiwan. yfcheng2@vghtpe.gov.tw. 11. Faculty of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan. yfcheng2@vghtpe.gov.tw. 12. Department of Speech Language Pathology and Audiology, National Taipei University of Nursing and Health Sciences, Taipei, Taiwan. yfcheng2@vghtpe.gov.tw. 13. Department of Medical Research, Taipei Veterans General Hospital, No. 201, Sec. 2, Shipai Rd., Beitou District, Taipei City, 11217, Taiwan. yfcheng2@vghtpe.gov.tw. 14. Institute of Brain Science, National Yang Ming Chiao Tung University, Taipei, Taiwan. yfcheng2@vghtpe.gov.tw. 15. Department of Pediatrics, Taipei Veterans General Hospital, No. 201, Sec. 2, Shipai Rd., Beitou District, Taipei City, 11217, Taiwan. dmniu@vghtpe.gov.tw. 16. Institute of Clinical Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan. dmniu@vghtpe.gov.tw.
Abstract
BACKGROUND: Studies suggest that enzyme-replacement therapy (ERT) is crucial to the survival of patients with infantile-onset Pompe disease (IOPD). Hearing impairment (HI) is one of the clinical sequelae observed in long-term survivors. However, the benefits of early ERT for hearing outcomes have not yet been reported. This study aimed to investigate the impact of early ERT on IOPD patients. METHODS: This retrospective longitudinal study recruited IOPD patients who were referred by newborn screening for confirmatory diagnosis based on our rapid diagnostic criteria and received early ERT treatment between January 1, 2010, and January 31, 2018. The hearing test battery included a tympanogram, otoacoustic emission, auditory brainstem evoked response (ABR), pure-tone audiometry or conditioned play audiometry. RESULTS: Nineteen patients with IOPD were identified, 6 of whom had hearing impairment (HI); 1 had conductive HI, 2 had sensorineural HI (one had bilateral mild HI and one had mild HI in a single ear) and 1 had moderate mixed-type HI. Two patients failed the newborn screening test and had mild HI in the ABR. The mean age of the initial time to ERT was 11.05 ± 4.31 days, and the HI rate was 31.6% (6/19). CONCLUSION: Our study is the largest cohort to show the characteristic hearing outcomes of IOPD patients after ERT. Early ERT within 2 weeks after birth may contribute to better hearing outcomes. Clinicians should be vigilant in testing for the hearing issues associated with IOPD and should intervene early if any HI is detected.
BACKGROUND: Studies suggest that enzyme-replacement therapy (ERT) is crucial to the survival of patients with infantile-onset Pompe disease (IOPD). Hearing impairment (HI) is one of the clinical sequelae observed in long-term survivors. However, the benefits of early ERT for hearing outcomes have not yet been reported. This study aimed to investigate the impact of early ERT on IOPD patients. METHODS: This retrospective longitudinal study recruited IOPD patients who were referred by newborn screening for confirmatory diagnosis based on our rapid diagnostic criteria and received early ERT treatment between January 1, 2010, and January 31, 2018. The hearing test battery included a tympanogram, otoacoustic emission, auditory brainstem evoked response (ABR), pure-tone audiometry or conditioned play audiometry. RESULTS: Nineteen patients with IOPD were identified, 6 of whom had hearing impairment (HI); 1 had conductive HI, 2 had sensorineural HI (one had bilateral mild HI and one had mild HI in a single ear) and 1 had moderate mixed-type HI. Two patients failed the newborn screening test and had mild HI in the ABR. The mean age of the initial time to ERT was 11.05 ± 4.31 days, and the HI rate was 31.6% (6/19). CONCLUSION: Our study is the largest cohort to show the characteristic hearing outcomes of IOPD patients after ERT. Early ERT within 2 weeks after birth may contribute to better hearing outcomes. Clinicians should be vigilant in testing for the hearing issues associated with IOPD and should intervene early if any HI is detected.
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