Health Sciences Faculty, Department of Speech Language Therapy, Lokman Hekim University, Söğütözü Mh. 2179 Cd. No: 6 Çankaya, 06510, Ankara, Turkey.
Health Sciences Faculty, Audiology Department, Ankara University, Ankara, Turkey.
Metab Brain Dis. 2022 Aug;37(6):2121-2132. doi: 10.1007/s11011-022-00987-6. Epub 2022 Apr 30.
This study aimed to evaluate audiological findings among patients with glutaric aciduria type 1 (GA-1). We used a large test battery for the audiological evaluation of 17 individuals with GA-1 (the study group) and 20 healthy individuals (the control group). Conventional audiometry (0.125-8 kHz), distortion product otoacoustic emissions (DPOAEs) (1, 1.5, 2, 3, 4, 6, and 8 kHz), contralateral suppression of otoacoustic emissions, and auditory brainstem response (ABR) ( 30, 50, 70 and 90 dB nHL) were measured for all participants (n = 37). Mild sensorineural hearing loss was found in 77.47% (n = 13) of the patients with GA-1, and normal hearing thresholds were seen in 23.53% (n = 4). There were three asymptomatic patients at the time of diagnosis [two developed mild mental motor retardation (MMR) and one developed severe MMR during the follow-up], one with a normal hearing threshold and two with mild hearing loss), and 14 symptomatic patients (three with normal hearing thresholds and 11 with mild hearing loss). Seven of the symptomatic patients diagnosed following an encephalopathic crisis required intensive care and showed significantly worse hearing thresholds than those without symptoms [20.86 ± 4.47 vs. 15.44 ± 3.96 decibel hearing level (dB HL), p = 0.039*], while five had mild-to-moderate hearing loss. Acute encephalopathic crisis had a negative effect on hearing function in the symptomatic patients. The emission and contralateral suppression amplitude values of the study group were significantly lower compared to the control group (p < 0.05). The I-V interpeak latency and absolute latencies of ABR waves I, III, and V of the study group were observed to be significantly prolonged and morphologically distorted compared to those of the control group (p < 0.05). Five patients had MMR, and three had moderate MMR; all eight had mild-to-moderate hearing loss. In addition, of the eight patients with mild MMR, four had mild hearing loss. In particular, the morphological findings of ABR waves were significantly worse in the patients with severe and moderate MMR (p < 0.05). There was a significant correlation between a macrocephaly history (12 patients) and hearing loss (p = 0.041*). Magnetic resonance imaging findings were evaluated in all the 17 patients with GA-1, and typical fronto-temporal atrophy and sylvian fissure enlargement were observed. Our findings support that GA-1 is associated with auditory impairment, primarily in symptomatic patients. Adequate audiological test battery evaluation is essential in this context, particularly for symptomatic patients with a history of encephalopathic crises.
本研究旨在评估 1 型戊二酸尿症（GA-1）患者的听力结果。我们使用了大量的测试组合对 17 名 GA-1 患者（研究组）和 20 名健康个体（对照组）进行了听力评估。对所有参与者（n=37）进行了常规听力测试（0.125-8 kHz）、畸变产物耳声发射（DPOAEs）（1、1.5、2、3、4、6 和 8 kHz）、对侧耳声发射抑制和听觉脑干反应（ABR）（30、50、70 和 90 dB nHL）。研究组中有 77.47%（n=13）的患者存在轻度感觉神经性听力损失，23.53%（n=4）的患者听力阈值正常。有 3 名无症状患者在诊断时[其中 2 名患者在随访中出现轻度精神运动发育迟缓（MMR），1 名患者出现严重 MMR]，1 名患者听力阈值正常，2 名患者听力轻度受损），14 名有症状患者（3 名患者听力阈值正常，11 名患者听力轻度受损）。7 名有症状的患者在出现脑病危象后被诊断出来，需要进行重症监护，与无症状患者相比，他们的听力阈值明显更差[20.86±4.47 与 15.44±3.96 分贝听力水平（dB HL），p=0.039*]，而 5 名患者有轻度至中度听力损失。脑病危象对有症状患者的听力功能有负面影响。与对照组相比，研究组的发射和对侧抑制幅度值明显较低（p<0.05）。与对照组相比，研究组的 ABR 波 I、III 和 V 的 I-V 峰间潜伏期和绝对潜伏期明显延长且形态改变（p<0.05）。5 名患者患有 MMR，3 名患者患有中度 MMR；所有 8 名患者都有轻度至中度听力损失。此外，8 名患有轻度 MMR 的患者中，有 4 名患者听力轻度受损。特别是，严重和中度 MMR 患者的 ABR 波形态学发现明显更差（p<0.05）。12 名患者中有 12 名有大头畸形病史与听力损失之间存在显著相关性（p=0.041*）。对 17 名 GA-1 患者均进行了磁共振成像检查，观察到典型的额颞叶萎缩和侧裂扩大。我们的研究结果支持 GA-1 与听力损伤有关，主要与有症状的患者有关。在这种情况下，进行适当的听力测试组合评估至关重要，特别是对于有脑病危象病史的有症状患者。
