Clinical features of 22q11.2 deletion syndrome related to hearing and communication.

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    • Subject Terms:
      MIDDLE ear abnormalities; ARTICULATION disorders; CHROMOSOME abnormalities; COMMUNICATIVE disorders; HEARING disorders; LANGUAGE acquisition; NASOPHARYNX diseases; OTOLARYNGOLOGY; TEMPORAL bone; PHENOTYPES; RETROSPECTIVE studies; 22Q11 deletion syndrome; DIGEORGE syndrome; SYMPTOMS
    • Subject Terms:
      JAPAN
    • Abstract:
      Background: Individuals with 22q11.2 deletion syndrome (22q11.2DS) exhibit various phenotypes. Objective: To compare the clinical and otorhinolaryngological features of Japanese patients with 22q11.2DS with those of patients reported in Western literature. Materials and methods: We retrospectively assessed the medical records of 17 Japanese patients with 22q11.2DS and compared our findings with previously reported findings in Western literature. Results: Hearing loss was the most frequent complaint (n = 8, 47%), followed by articulation disorders and/or nasopharyngeal closure failure (n = 4, 24%) and language development delay (n = 2, 12%). Ten patients (59%) had hearing loss regardless of the chief complaint (total 15 ears – mild, 9; moderate, 6). Four patients had bilateral hearing loss. One patient (6%) underwent tympanostomy tube placement for refractory exudative otitis media, another (6%) underwent myringoplasty, and three patients (18%) underwent tympanoplasties for chronic otitis media or middle ear malformation. Previous studies in Western countries reported similar results in terms of frequency of hearing loss, severity of hearing loss, and the percentage of middle ear malformations. Conclusions: The otorhinolaryngological characteristics of Japanese patients with 22q11.2DS were similar to those in Western countries. Hearing loss was primarily caused by disorders like otitis media and middle ear malformation. Significance: Our findings may aid treatment planning for Asian patients with 22q11.2DS. [ABSTRACT FROM AUTHOR]
    • Abstract:
      背景：22q11.2缺失综合征（22q11.2DS）患者表现出多种表型。 目的：比较日本22q11.2DS患者与西方文献报道的患者的临床及耳鼻咽喉特点。 材料与方法：回顾性分析17例日本22q11.2DS患者的病历, 并与西方文献报道的结果进行比较。 结果：听力损失是最常见的主诉（n ¼ 8, 47%）, 其次是关节紊乱和/或鼻咽闭合衰败（n¼ 4, 24%）和语言发育迟缓（n¼ 2, 12%）。不管主诉是什么, 有10名患者（59%）有听力损失（共15个耳, 轻度9 个耳, 中度6个耳）。4例患者有双侧听力损失。1例（6%）因难治性渗出性中耳炎行鼓室造口置管术, 1例（6%）行鼓膜成形术, 3例（18%）因慢性中耳炎或中耳畸形行鼓室成形术。西方国家以前的研究报告在听力损失的频率、听力损失的严重程度和中耳畸形的百分比方面也有类似的结果。 结论：日本22q11.2DS患者的耳鼻咽喉特征与西方国家相似。听力损失主要由中耳炎和中耳畸形等疾病引起。 意义：我们的发现可能有助于亚洲22q11.2DS患者的治疗计划。 [ABSTRACT FROM AUTHOR]
    • Abstract:
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