ArticleOrphanet journal of rare diseases2021
Hearing characteristics of infantile-onset Pompe disease after early enzyme-replacement therapy.
Article in Orphanet journal of rare diseases, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.
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Who cites it
11 citing papers in PubMed, 1 synthesis or guideline pooled it, 13 citations in OpenAlex.
- Central nervous system histopathological findings in classic infantile Pompe disease: a systematic review with clinical relevance.Journal of neurology · 2026Pooled it
- Infantile-onset Pompe disease entering adulthood: Insights from 2 decades of enzyme replacement therapy experience.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- The role of proteinuria on a simple urinalysis in neonatal hypoxic-ischemic encephalopathy: association with clinical and neurodevelopmental outcomes.Frontiers in neurology · 2025Article
- Sensory neuropathy in patients with Pompe disease: a case series in Iran.BMC musculoskeletal disorders · 2024Article
- Avalglucosidase alfa in infantile-onset Pompe disease: A snapshot of real-world experience in Italy.Molecular genetics and metabolism reports · 2024Article
- Long-Term Outcome of Infantile Onset Pompe Disease Patients Treated with Enzyme Replacement Therapy - Data from a German-Austrian Cohort.Journal of neuromuscular diseases · 2024Article
- Unconjugated bilirubin is correlated with the severeness and neurodevelopmental outcomes in neonatal hypoxic-ischemic encephalopathy.Scientific reports · 2023Article
- [Research progress of nervous system damage in Pompe disease].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2023Review
- Early Blood Glucose Level Post-Admission Correlates with the Outcomes and Oxidative Stress in Neonatal Hypoxic-Ischemic Encephalopathy.Antioxidants (Basel, Switzerland) · 2021Article
- Early Biomarkers and Hearing Impairments in Patients with Neonatal Hypoxic-Ischemic Encephalopathy.Diagnostics (Basel, Switzerland) · 2021Article
- Recommendations for Infantile-Onset and Late-Onset Pompe Disease: An Iranian Consensus.Frontiers in neurology · 2021Review
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundStudies 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.
methodsThis 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.
resultsNineteen 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).
conclusionOur 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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