Arganbright Jill, Crowley Terrence Blaine, Tracy Meghan, Noel-MacDonnell Janelle, Gaiser Kim, Yaktine Lori, Moore Amanda, Hamm Jamie, Morrow Bernice, Song Hansoo, Giunta Victoria, McGinn Daniel E, Zackai Elaine H, Emanuel Beverly, Elden Lisa, Narayanan Srivats, Raje Nikita, McDonald-McGinn Donna M
Division of Pediatric Otolaryngology, Children's Mercy Hospital, Kansas, Missouri, U.S.A.
University of Missouri-Kansas City School of Medicine, Kansas, Missouri, U.S.A.
Laryngoscope. 2025 Feb;135(2):929-934. doi: 10.1002/lary.31777. Epub 2024 Sep 21.
Hearing loss is considered common in children with 22q11.2 deletion syndrome (22q11.2DS), with a few prior studies reporting a 32%-78% prevalence; mild-moderate conductive hearing loss has been reported most commonly. Overall, however, there remains a paucity of data regarding the frequency, type, age, and progression of hearing loss in children with 22q11.2DS.
Retrospective chart review was completed, and data combined for two large 22q centers. Inclusion criteria were children with 22q11.2DS and a documented audiogram. Data extracted included a laboratory-confirmed chromosome 22q11.2 deletion; co-morbidities; results of all audiograms and radiologic temporal bone imaging; and otologic surgical procedures.
One thousand seven hundred sixty-nine charts were reviewed; 775 met inclusion criteria. Of these, 563 (73%) children had at least one abnormal audiogram demonstrating hearing loss. A total of 2,536 audiograms were reviewed; 74% of these showed abnormal hearing in at least one ear. Most of the hearing loss was conductive (right ear 76%; left ear 69%) and mild severity. For the children with SNHL, 90% of all follow-up audiograms were stable without progression. Hearing loss was identified across all pediatric age ranges. Ear tube placement occurred in 39% of children.
This study confirms the high incidence of hearing loss for children with 22q11.2DS at some point in their childhood. In our cohort, hearing loss occurred in 73% of children and was most often conductive and mild in severity. The results highlight the importance of otolaryngology and audiology involvement in managing children with 22q11.2DS for timely diagnosis and treatment of hearing loss.
4 Laryngoscope, 135:929-934, 2025.
听力损失在22q11.2缺失综合征（22q11.2DS）患儿中被认为很常见，少数先前的研究报告患病率为32%-78%；最常报告的是轻中度传导性听力损失。然而，总体而言，关于22q11.2DS患儿听力损失的频率、类型、年龄和进展情况的数据仍然很少。
完成回顾性病历审查，并汇总两个大型22q中心的数据。纳入标准为患有22q11.2DS且有记录的听力图的儿童。提取的数据包括实验室确认的22号染色体q11.2缺失；合并症；所有听力图和颞骨影像学检查结果；以及耳科手术程序。
共审查了1769份病历；775份符合纳入标准。其中，563名（73%）儿童至少有一次听力图异常，表明存在听力损失。共审查了2536份听力图；其中74%显示至少一只耳朵听力异常。大多数听力损失为传导性（右耳76%；左耳69%）且程度较轻。对于感音神经性听力损失（SNHL）患儿，所有随访听力图中有90%稳定无进展。在所有儿童年龄范围内均发现了听力损失。39%的儿童进行了耳管置入。
本研究证实22q11.2DS患儿在童年的某个阶段听力损失发生率很高。在我们的队列中，73%的儿童出现了听力损失，最常见的是传导性且程度较轻。结果强调了耳鼻喉科和听力学参与管理22q11.2DS患儿以及时诊断和治疗听力损失的重要性。
4 《喉镜》，135:929-934，2025年。
