The Saccadic and Neurological Deficits in Type 3 Gaucher Disease

Our objective was to characterize the saccadic eye movements in patients with type 3 Gaucher disease (chronic neuronopathic) in relationship to neurological and neurophysiological abnormalities. For approximately 4 years, we prospectively followed a cohort of 15 patients with Gaucher type 3, ages 8–28 years, by measuring saccadic eye movements using the scleral search coil method. We found that patients with type 3 Gaucher disease had a significantly higher regression slope of duration vs amplitude and peak duration vs amplitude compared to healthy controls for both horizontal and vertical saccades. Saccadic latency was significantly increased for horizontal saccades only. Downward saccades were more affected than upward saccades. Saccade abnormalities increased over time in some patients reflecting the slowly progressive nature of the disease. Phase plane plots showed individually characteristic patterns of abnormal saccade trajectories. Oculo-manual dexterity scores on the Purdue Pegboard test were low in virtually all patients, even in those with normal cognitive function. Vertical saccade peak duration vs amplitude slope significantly correlated with IQ and with the performance on the Purdue Pegboard but not with the brainstem and somatosensory evoked potentials. We conclude that, in patients with Gaucher disease type 3, saccadic eye movements and oculo-manual dexterity are representative neurological functions for longitudinal studies and can probably be used as endpoints for therapeutic clinical trials

Short rehabilitation training program may improve postural control in children with autism spectrum disorders: preliminary evidences

International audienceAutism Spectrum Disorders subjects (ASD) is characterized by postural control deficits. This study aimed to explore the effect of a short postural rehabilitation training program on postural capabilities in children with ASD. Two groups (G1 and G2) of twenty children with ASD of IQ-, sex- and age- matched (mean age 11.7 ± 2.4 years) were included in this study. Posture was recorded by using the Balance Quest from Framiral on unstable platform in three different viewing conditions. The rehabilitation program consisted in two distinct postural control training exercises. Postural recordings were performed twice at T1 and T2 for both groups of children. Between T1 and T2 a 6-minute postural training was performed by the G1 group only, while the G2 group had a 6-minute of rest. Children were allocated randomly to the G1 or G2 groups. At T1, postural instability was similar for both groups of ASD children (G1 and G2) desp+\ite viewing conditions. At T2, we observed an improvement of postural control related to a mixed effect of training rehabilitation but also of test-retest. Knowing the potential of new rehabilitation strategies, the impact of postural control deficit in ASD children needs to be reconsidered. Well design case-control studies are requested to ensure scientific validity of postural rehabilitation training program