Gait abnormalities in people with Dravet syndrome: A cross-sectional multi-center study.

OBJECTIVE: To quantify gait abnormalities in people with Dravet syndrome (DS). METHODS: Individuals with a confirmed diagnosis of DS were enrolled, and stratified according to knee flexion at initial contact (IC) and range of motion (ROM) during stance (atypical crouch: knee flexion >20° at IC and knee ROM >15° during stance; straight: knee flexion <20° at IC). A 1D ANOVA (α = 0.05) was used to test statistical differences among the joint kinematics and spatio-temporal parameters of the cohort and an age-matched control group. Clinical (neurological and orthopaedic evaluation) and anamnestic data (seizure type, drugs, genetic mutation) were collected; distribution between the two gait phenotypes was assessed with the Fisher exact test and, for mutation, with the chi-squared test (p < 0.05). Linear regression between maximum knee flexion and normalised walking speed was calculated. RESULTS: Seventy-one subjects were enrolled and evaluated with instrumented gait analysis. Fifty-two were included in final analysis (mean age 13.8 ± 7.3; M 26). Two gait patterns were detected: an atypical crouch gait (34.6%) with increased ankle, knee and hip flexion during stance, and reduced walking speed and stride length not associated with muscle-tendon retractions; and a pattern resembling those of healthy age-matched controls, but still showing reduced walking speed and stride length. No differences in clinical or anamnestic data emerged between the two groups. SIGNIFICANCE: Objectively quantified gait in DS shows two gait patterns with no clear-cut relation to clinical data. Kinematics abnormalities may be related to stabilization issues. These findings may guide rehabilitative and preventive measures.

Intra-articular botulinum toxin injection in complex regional pain syndrome: Case report and review of the literature.

Complex regional pain syndrome (CRPS) is characterized by hyperalgesia, autonomic and trophic alterations of bones, muscles and skin. It is supported by neurogenic inflammation and impairment of sympathetic nervous system. Botulinum Toxin (BTX) is an option for the management of pain, with level B evidence of efficacy in neuropathic, joint and myofascial pain syndrome. We report a case of CRPS treated with intra articular injection of BTX-A (IaBI). BTX-A 100 U in 2 cc Na Cl 0,9% was injected into the gleno-humeral joint. Visual analogue scale (VAS) pain score and McGill Pain Questionnaire (MPQ) were administered at T0 (baseline), T1 (one month after IaBI) and T2 (four months after IaBI). Autonomic and trophic skin disorders were clinically monitored. Pain decreased at T1, with a lasting effect at T2, associated with improvement of range of motion (ROM). No improvement in terms of autonomic and trophic skin disorders were reported neither at T1 nor T2. These findings support a possible antinociceptive role of BTX-A in the management of CRPS pain related to inhibition of pain neurotransmitters release. A literature revision of IaBI is provided.