Gait and Postural Control in CLN2 Patients After Two Years of Treatment
Author Information
Author(s): Soangra Rahul, Grant-Beuttler Marybeth, Chang Harriet, Wang Raymond
Primary Institution: Chapman University, Orange, CA, USA
Hypothesis
How does recombinant human tripeptidyl intracerebroventricular enzyme replacement therapy affect gait and postural control in atypical CLN2 patients over two years?
Conclusion
The study found that while some aspects of sensory integration improved, there was a progressive decline in complex motor functions and increased risk of tripping in the patients.
Supporting Evidence
- Both siblings showed a decline in walking velocity and increased sit-to-stand times over the two-year period.
- SOT scores improved after two years of treatment, indicating some preservation of sensory integration.
- Postural complexity and stability declined, suggesting ongoing challenges despite treatment.
Takeaway
This study looked at two siblings with a rare disease and how a special treatment helped them walk and balance over two years. They got a little better in some ways, but still had trouble with more complicated movements.
Methodology
The study assessed gait and postural control metrics over two years in two siblings with atypical CLN2 disease receiving enzyme replacement therapy.
Potential Biases
The lack of a control group and the small sample size may introduce bias in interpreting the treatment effects.
Limitations
The study had a small sample size of only two siblings and lacked a control group, which limits the generalizability of the findings.
Participant Demographics
Two siblings diagnosed with atypical CLN2 disease, aged 18 years and 13 years at enrollment.
Digital Object Identifier (DOI)
Want to read the original?
Access the complete publication on the publisher's website