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Published on: January 23, 2017
Limitations of hearing screening in newborns with PDS mutations
Bo Gyung Kim1, Joong-Wook Shin, Hong-Joon Park
1Department of Otorhinolaryngology, Yonsei University, College of Medicine, Seoul, Republic of Korea.
Insights
Universal newborn hearing screening (UNHS) is less effective for identifying congenital hearing loss caused by SLC26A4 (PDS) mutations. Genetic screening combined with UNHS is recommended for early intervention in at-risk infants.
Area of Science:
- Genetics
- Audiology
- Pediatrics
Background:
- Congenital hearing loss is a significant concern, with SLC26A4 (PDS) mutations being a common cause in East Asia.
- Hearing loss associated with PDS mutations often presents later, potentially limiting the effectiveness of universal newborn hearing screening (UNHS).
Purpose of the Study:
- To evaluate the diagnostic efficiency of UNHS in identifying hearing loss in infants with biallelic SLC26A4 (PDS) mutations.
- To compare the outcomes of UNHS between infants with and without PDS mutations.
Main Methods:
- Recruited 43 patients with sensorineural hearing loss and enlarged vestibular aqueduct with biallelic PDS mutations.
- Reviewed hearing loss history for 14 PDS mutation patients who underwent UNHS, 29 who did not, and 15 controls without PDS mutations.
Main Results:
- Among PDS mutation patients, 28.6% passed UNHS in both ears and 42.9% in one ear.
- Children with PDS mutations who passed UNHS were diagnosed with bilateral hearing loss significantly later (31.5 months) compared to those who failed (1.75 months).
- A higher percentage of PDS mutation patients passed UNHS bilaterally compared to controls (28.6% vs 13.3%).
Conclusions:
- UNHS is an inaccurate predictor of long-term hearing loss in individuals with PDS mutations.
- Combining genetic screening with UNHS is crucial for early identification and habilitation, especially in populations with high PDS mutation prevalence.
Objectives:
SLC26A4 (PDS) mutations are common cause of congenital hearing loss in East Asia. Hearing loss caused by PDS mutations tends to have delayed presentation; thus universal newborn hearing screening (UNHS) can be less effective in these patients. We examined the efficiency of newborn hearing screening test in patients with bi-allelic PDS mutations.
Methods:
Forty-three patients with sensorineural hearing loss were recruited. Patients had an enlarged vestibular aqueduct and biallelic PDS mutations. Among them, newborn hearing screening test had been performed on 14. The remaining 29 patients did not undergo newborn hearing screening test. Another 15 patients without a PDS mutation but who had sensorineural hearing loss were also recruited as a comparison group. We reviewed the hearing loss history of the children using medical records and parent interviews.
Results:
Among 14 patients with PDS mutation, four (28.6%) passed newborn hearing screening test in both ears and six (42.9%) passed in one ear. In contrast, only 2 of 15 (13.3%) children without a PDS mutation passed newborn hearing screening test bilaterally. The age at confirmation of bilateral hearing loss in bilateral "pass" patients with PDS mutation was 31.5 ± 17.9 months, which was significantly delayed compared to the age for bilateral "refer" children (1.75 ± 0.96 months) (p<0.05).
Conclusion:
The UNHS is not an accurate tool for predicting long-term hearing loss in patients with PDS mutations. We recommend that genetic screening be combined with UNHS, particularly in communities with a high prevalence of PDS mutations, to better identify children in need of early habilitation.
