Vertigo and dizziness in genetic neurodevelopmental disorders: an international cross-sectional study

J Neurol. 2025 Jul 8;272(8):494. doi: 10.1007/s00415-025-13237-3.

ABSTRACT

BACKGROUND: Neurodevelopmental disorders (NDDs) with a genetic basis are frequently associated with neurological and sensory impairments; yet vestibular symptoms remain underrecognized. Vertigo, dizziness, and imbalance can significantly impact daily functioning, but their prevalence and genetic associations in individuals with NDDs are poorly understood. This study aimed to assess the occurrence of vestibular symptoms in individuals with genetic NDDs.

METHODS: We conducted an international, prospective cross-sectional study using data from the GenIDA database, which includes individuals with confirmed genetic disorders, intellectual developmental disorders and/or other NDDs. Caregivers completed a survey assessing the occurrence of vertigo, dizziness, and balance issues, as well as emotional distress, psychiatric comorbidities, and associated conditions such as migraine and epilepsy. We analyzed the prevalence of vertigo in the past 12 months and explored potential genetic contributors.

RESULTS: The occurrence rate of vertigo (11.8%) and imbalance (27.7%) in the past 12 months was dramatically increased in individuals with genetic NDDs compared to that observed in the general population. However, less than 40% of patients had received a formal diagnosis for their vertigo. Notably, vertigo was significantly associated with an increased likelihood of feeling unhappy and depressed. Twenty genetic anomalies causally involved in NDDs were identified as potential contributors to vertigo, including 22q11.2 microdeletions and variants in ANKRD11, MED13L, PACS1 and SHANK3.

DISCUSSION: Vertigo appears highly prevalent, yet underdiagnosed, in individuals with genetic NDDs. The identified genetic anomalies suggest that (1) vertigo may be an intrinsic component of NDDs, reflecting shared genetic pathways leading to inner ear malformations, vestibular network dysfunction, cerebellar abnormalities, and epilepsy, alongside other neurodevelopmental features; and/or (2) early vestibular dysfunction may exacerbate neurodevelopmental impairments.

PMID:40627246 | DOI:10.1007/s00415-025-13237-3