Torticollis in children with enlarged vestibular aqueducts

To evaluate the association between torticollis and enlarged vestibular aqueduct (EVA). An online/phone survey was administered to parents of 133 children diagnosed with the following disorders: EVA, GJB2 (Connexin 26) mutations associated congenital hearing loss and epistaxis (control). The survey included questions regarding symptoms of torticollis, vertigo, and hearing loss. Patients with EVA had a 10-fold greater odds of having torticollis than controls (31% vs. 4%; OR = 10.6; 95% CI: 2.9, 39.2). No patients with GJB2 had a reported history of torticollis. Torticollis preceded the diagnosis of hearing loss in most (87%) patients with EVA who had a reported history of torticollis. EVA patients were more likely to have reported motor delay than controls (40% vs. 15%; p = 0.002). EVA patients with prior torticollis (80%; 12/15) were more likely to have balance impairment than EVA patients without prior torticollis (12%; 4/33; p