Vestibular dysfunction in Apert Syndrome

Abstract

Objectives: Apert syndrome affects the craniofacial structures resulting in craniosynostosis, craniofacial anomalies and syndactyly. Although many characteristic features are recognized, vestibular dysfunction is a little known feature that can often be present. This can cause a delay in the attainment of gross motor milestones and impair motor function. We aimed to examine this cohort to review the incidence of vestibular hypofunction and to assess the effect on motor function. Study design: We performed a retrospective analysis of 55 Apert syndrome patients who had undergone audiological review at Great Ormond Street Hospital for Children. Results: 50.9% of patients experienced balance difficulties; 18.1% of patients (all of whom had delayed motor milestones) underwent clinical examination and vestibular assessment. Results showed only 20% of patients had bilateral vestibular function present; 30% of patients had unilateral and 50% bilateral vestibular hypofunction. Two patients who initially presented with imbalance and vestibular hypofunction experienced significant improvement in symptoms on re-examination following vestibular physiotherapy. Conclusion: Vestibular dysfunction is a feature of Apert syndrome. Although the imbalance may be attributable to mechanical problems arising from syndactyly, it is important to recognize that a vestibular component can coexist. This is not well recognized, poorly understood and scarcely treated. We aim to increase awareness of vestibular dysfunction in Apert syndrome and advocate a high index of suspicion, particularly in the presence of motor milestone delay. Early detection, thorough vestibular assessment and prompt initiation of vestibular physiotherapy can aid vestibular compensation, rehabilitating patients and maximizing their functional attainment.