Torticollis in non-syndromal unicoronal craniosynostosis is predominantly ocular-related

Abstract

Background: Patients with unicoronal craniosynostosis (UCS) often show torticollis, which can result from either an ocular cause or an imbalance in the neck muscles. For the primary caregiver, the plastic surgeon, it is crucial to know the prevalence of ocular torticollis (OT) to ensure appropriate referrals for treating torticollis to an orthoptist or physiotherapist. Furthermore, associated ophthalmic features with OT in these patients are scarcely described. Understanding these associations helps orthoptists in developing effective treatment plans for these patients. Purpose: To determine the prevalence of OT in a population-based cohort of UCS patients and investigate its association with binocular single vision (BSV), strabismus, ocular motility, cyclotorsion, refractive error, and amblyopia. Methods: In this descriptive cross-sectional study, medical records of non-syndromic UCS patients treated between 1994-2022 at a tertiary-care hospital, were retrospectively reviewed. Collected data included diagnosis and type of torticollis, BSV, strabismus, ocular motility, alphabetical patterns, cyclotorsion, refractive error, and amblyopia. Patients were classified as OT based on their ophthalmic and/or orthoptic diagnosis. Prevalence was determined using a binominal test and its confidence interval using the Clopper-Pearson test. Associations between OT and the ophthalmic features were determined using Chi-square or Fishers exact test and the effect size was calculated using Cramer's V. Results: In total 146 patients with UCS were included; of whom 57 had torticollis. An ocular cause for the torticollis was found in 54 patients 37% (95% CI [0.292 – 0.454]). Significant associations were found between OT and strabismus (p<0.001), ocular motility abnormalities (p<0.001), alphabetical patterns (p<0.001), and amblyopia (p=0.002). BSV (p=0.277) and refractive error (p=1.0) were not significantly associated with OT. Although, in OT the BSV was relatively poor (42.1%) and more frequently absent (26.3%) compared to the non-torticollis group (7% and 16.3%, respectively). In both groups excyclotorsion was predominantly present (62.3%). Conclusion: In 95% of cases, torticollis in UCS patients is ocular-related. Overall, one-in-three patients with UCS have OT. Recommendations: This study emphasizes the importance of plastic surgeons referring all UCS patients with torticollis to an orthoptist, who specializes in diagnosing and treating OT, before considering physiotherapy.