Investigation of Gait Characteristics and Kinematic Deviations in Rare Genetic Disorders with Instrumented Gait Analysis.
Esra Kınacı-Biber, Lis Gys, Anna C Jansen and 5 others
PMID 39948735WHAT IT FOUND
Children with Helsmoortel Van Der Aa syndrome walked with a mildly flexed pattern, shorter steps and wider stance, similar to non-crouch Dravet syndrome.
Those with Tuberous Sclerosis Complex walked similarly to typical peers, except for a wider step width.
Key findings
01Participants with Helsmoortel Van Der Aa syndrome (HVDAS) showed increased hip and knee flexion during stance and a shorter step length compared to typical peers.
02Participants with Tuberous Sclerosis Complex (TSC) had kinematic patterns similar to typical peers, with no significant differences in any joint plane.
03All patient groups (HVDAS, TSC, and Dravet syndrome) walked with a significantly increased step width compared to typical peers.
STILL TO COME
How it was doneWhat they foundWhat it means for PTsWhat it means for OTs
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What it does not show
Small sample sizes for the HVDAS (n=12) and TSC (n=8) groups limited statistical power and may not represent the full spectrum of these conditions. High heterogeneity in age and musculoskeletal manifestations within groups complicates generalization. The study only included ambulatory patients (GMFCS I and II), excluding wheelchair-bound individuals who may have different gait or mobility challenges. Cross-sectional design prevents observation of gait changes over time. Cognitive and developmental factors were not objectively measured, despite being proposed as contributors to the observed gait deviations.
Declared interests
The authors declare no conflicts of interest. The study was funded by the University of Antwerp and Research Foundation Flanders.
The easy way to misread this
Do not assume that typical kinematic patterns in Tuberous Sclerosis Complex mean normal functional mobility. The study found high heterogeneity within the TSC group, with some individuals showing impaired function despite group-level similarities to typical peers.