Gait abnormalities in children with FOXP1 syndrome: A case series.
Laura M Breij, Eveline B Boeker, Bregje Jaeger and 1 others
PMID 40521719WHAT IT FOUND
Three children with FOXP1 syndrome walked on their toes with extra knee flexion in stance.
With casting, stiff insoles, botulinum toxin, physiotherapy, or orthoses, toe walking improved slightly; knee flexion and walking distance did not always change.
Key findings
01The children showed toe walking, with forefoot or plantar flexion contact and increased knee flexion in midstance during gait analysis.
02Patient 1 had knee flexion contractures and reduced ankle range of motion without spasticity; Patient 2 and Patient 3 had calf spasticity with ankle contractures.
03After treatment combinations that included serial casting, stiff insoles in ankle-high shoes, botulinum toxin A injections, intensive physiotherapy, and ankle-foot orthoses, toe walking improved slightly in each child; Patient 3's ankle range of motion, walking speed, and calf muscle timing also improved slightly, while knee flexion in midstance and walking distance did not change. The contribution of any single component cannot be separated.
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What it does not show
The paper describes only three children, so it cannot show how common these gait patterns are or how they compare with other toe-walking children. There was no control group and no untreated comparison, so the paper cannot show whether the children would have changed without treatment. Each child received a combination of treatments, including casting, botulinum toxin, physiotherapy, insoles, and orthoses, so the effect of any single treatment cannot be known. Improvements were described as slight, and Patient 3's knee flexion in midstance and maximal walking distance did not change. The children had different cognitive levels, so the findings may not apply to all children with FOXP1 syndrome.
The easy way to misread this
Do not read the slight improvements as proof that casting, botulinum toxin, physiotherapy, insoles, or orthoses work in FOXP1 syndrome. This was a case series of three children, and each child received a combination of treatments, so the contribution of any single treatment cannot be separated. Patient 3's knee flexion in midstance and walking distance did not change.