Balance Control Impairments in Usher Syndrome
Authors: Amorim Ana Margarida , Ramada Ana Beatriz , Lopes Ana Cristina , Lemos João , Ribeiro João Carlos 
Published: July 2024

Objectives:
To explore postural disability in Usher Syndrome (USH) patients using temporal posturographic analysis to better elucidate sensory compensation strategies of deafblind patients for posture control and correlate the Activities-specific Balance Confidence (ABC) scale with posturographic variables.

Design:
Thirty-four genetically confirmed USH patients (11 USH1, 21 USH2, 2 USH 4) from the Otolaryngology Outpatient Clinic and 35 controls were prospectively studied using both classical and wavelet temporal analysis of center of pressure (CoP) under different visual conditions on static and dynamic platforms. The functional impact of balance was assessed with the ABC scale. Classical data in the spatial domain, Sensorial Organization Test, and frequency analysis of the CoP were analyzed.

Results:
On unstable surfaces, USH1 had greater CoP surface area with eyes open (38.51 ± 68.67) and closed (28.14 ± 31.64) versus controls (3.31 ± 4.60), p < 0.001 and (7.37 ± 7.91), p < 0.001, respectively. On an unstable platform, USH consistently showed increased postural sway, with elevated angular velocity versus controls with eyes open (USH1 [44.94 ± 62.54]; USH2 [55.64 ± 38.61]; controls [13.4 ± 8.57]) (p = 0.003; p < 0.001) and closed (USH1 [60.36 ± 49.85], USH2 [57.62 ± 42.36]; controls [27.31 ± 19.79]) (p = 0.002; p = 0.042). USH visual impairment appears to be the primary factor influencing postural deficits, with a statistically significant difference observed in the visual Sensorial Organization Test ratio for USH1 (80.73 ± 40.07, p = 0.04) and a highly significant difference for USH2 (75.48 ± 31.67, p < 0.001) versus controls (100). In contrast, vestibular (p = 0.08) and somatosensory (p = 0.537) factors did not reach statistical significance. USH exhibited lower visual dependence than controls (30.31 ± 30.08) (USH1 [6 ± 11.46], p = 0.004; USH2 [8 ± 14.15], p = 0.005). The postural instability index, that corresponds to the ratio of spectral power index and canceling time, differentiated USH from controls on unstable surface with eyes open USH1 (3.33 ± 1.85) p < 0.001; USH2 (3.87 ± 1.05) p < 0.002; controls (1.91 ± 0.85) and closed USH1 (3.91 ± 1.65) p = 0.005; USH2 (3.92 ± 1.05) p = 0.045; controls (2.74 ± 1.27), but not USH1 from USH2. The canceling time in the anteroposterior direction in lower zone distinguished USH subtypes on stable surface with optokinetic USH1 (0.88 ± 1.03), USH2 (0.29 ± 0.23), p = 0.026 and on unstable surface with eyes open USH1 (0.56 ± 1.26), USH2 (0.072 ± 0.09), p = 0.036. ABC scale could distinguish between USH patients and controls, but not between USH subtypes and it correlated with CoP surface area on unstable surface with eyes open only in USH1(ρ = 0.714, p = 0.047).

Conclusions:
USH patients, particularly USH1, exhibited poorer balance control than controls on unstable platform with eyes open and appeared to rely more on proprioceptive information while suppressing visual input. USH2 seems to use different multisensory balance strategies that do not align as well with the ABC scale. The advanced analysis provided insights into sensory compensation strategies in USH subtypes.