Auditory phenotype of Smith-Lemli-Opitz syndrome.
Auditory phenotype of Smith-Lemli-Opitz syndrome.
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DOI：
10.1002/ajmg.a.62087
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发表时间：
2021-04
期刊：
影响因子：
--
通讯作者：
Brewer CC
中科院分区：
文献类型：
--
作者：
Zalewski CK;Sydlowski SA;King KA;Bianconi S;Dang Do A;Porter FD;Brewer CC
Smith-Lemli-Opitz 综合征 (SLOS) 是一种常染色体隐性遗传的多发性先天畸形和智力障碍综合征，由 DHCR7 变异引起。 SLOS 患者的听觉特征在有限的病例报告中有所描述，但尚未得到系统评估。本研究的目的是描述 SLOS 中的听觉表型。对 32 名 SLOS 患者进行了适合年龄和能力的听力评估。其中 21 人接受了听觉脑干反应测试，从中描述了听觉神经表型。在我们的 SLOS 队列中，65.6%（21）名患者的至少一只耳朵观察到周围或耳蜗后听觉功能障碍。听力表型是异质的，包括传导性听力损失、混合性听力损失和感音神经性听力损失。最常见的表现是轻度至轻度传导性听力损失，但也观察到严重的感音神经性听力损失。 21.9% 的患者发现异常的听觉脑干反应表明耳蜗后功能障碍。许多行为很难进行测试，需要客观的评估方法来估计听力敏感性。患有 SLOS 的人可能会出现听力损失，从而影响沟通，包括言语和语言发展。应进行常规听力监测，以确保及时治疗听力损失。
Smith–Lemli–Opitz syndrome (SLOS) is an autosomal recessive multiple congenital malformation and intellectual disability syndrome resulting from variants in DHCR7. Auditory characteristics of persons with SLOS have been described in limited case reports but have not been systematically evaluated. The objective of this study is to describe the auditory phenotype in SLOS. Age- and ability-appropriate hearing evaluations were conducted on 32 patients with SLOS. A subset of 21 had auditory brainstem response testing, from which an auditory neural phenotype is described. Peripheral or retrocochlear auditory dysfunction was observed in at least one ear of 65.6% (21) of the patients in our SLOS cohort. The audiometric phenotype was heterogeneous and included conductive, mixed, and sensorineural hearing loss. The most common presentation was a slight to mild conductive hearing loss, although profound sensorineural hearing loss was also observed. Abnormal auditory brainstem responses indicative of retrocochlear dysfunction were identified in 21.9% of the patients. Many were difficult to test behaviorally and required objective assessment methods to estimate hearing sensitivity. Individuals with SLOS are likely to have hearing loss that may impact communication, including speech and language development. Routine audiologic surveillance should be conducted to ensure prompt management of hearing loss.
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DOI：
10.1002/ajmg.c.31343
发表时间：
2012-11-15
影响因子：
3.1
作者：
Nowaczyk, Malgorzata J. M.;Irons, Mira B.
通讯作者：
Irons, Mira B.
DOI：
10.1044/jshd.5101.53
发表时间：
1986-02-01
期刊：
JOURNAL OF SPEECH AND HEARING DISORDERS
影响因子：
--
作者：
DAVIS, JM;ELFENBEIN, J;BENTLER, RA
通讯作者：
BENTLER, RA
DOI：
10.1111/j.1749-6632.1982.tb50815.x
发表时间：
1982-01-01
影响因子：
5.2
作者：
HECOX, K;BURKARD, R
通讯作者：
BURKARD, R
影响因子：
8
作者：
Kuo, Chin-Lung;Tsao, Yuan-Heng;Shiao, An-Suey
通讯作者：
Shiao, An-Suey
影响因子：
3
作者：
Lazarin, Gabriel A.;Haque, Imran S.;Goldberg, James D.
通讯作者：
Goldberg, James D.