Neurologic orphan diseases: Emerging innovations and role for genetic treatments

Kioutchoukova IP, Foster DT, Thakkar RN, Foreman MA, Burgess BJ, Toms RM, Molina Valero EE, Lucke-Wold B. Neurologic orphan diseases: Emerging innovations and role for genetic treatments. World J Exp Med 2023; 13(4): 59-74  doi: 10.5493/wjem.v13.i4.59

 Emerging innovations and the role of genetic treatments open a new window of opportunity for the treatment of neurologic orphan diseases.

Benefits of Adaptive Sport on Physical and Mental Quality of Life in People with Physical Disabilities: A Meta-Analysis

Isidoro-Cabañas E, Soto-Rodríguez F, Morales-Rodríguez F, Pérez-Mármol J. Benefits of Adaptive Sport on Physical and Mental Quality of Life in People with Physical Disabilities: A Meta-Analysis; Healthcare (Basel, Switzerland). 2023 Sep;11(18). PMCID: PMC10531072. doi:10.3390/healthcare11182480 

The engagement in adaptive sports showed a positive impact on the mental quality of life among adults with physical disabilities. However, the positive effect of adaptive sports practice on physical quality of life was shown only in the pre–post-test analysis. Further studies are required to validate the obtained findings.

Comparison of Live and Remote Video Ratings of the Scale for Assessment and Rating of Ataxia

Taheri Amin A, Faber J, Önder D, et al. Comparison of Live and Remote Video Ratings of the Scale for Assessment and Rating of Ataxia; Movement Disorders Clinical Practice. 2023 Aug;10(9):1404-1407. PMCID: PMC10525045. DOI: 10.1002/mdc3.13843 

Live and remote video ratings showed a high level of agreement for the complete score (bias = 0.09, with standard deviation = 2.00) and all single SARA items (bias<0.20 for all items).

Conclusion: Remote video ratings of SARA are a reliable means to assess severity of ataxia.

Pre-Validation of a Virtual Reality Tool to Quantify the Severity of Friedreich's Ataxia

K. Chenier, A. Duquette, L. Touma, M. T. Le and D. R. Labbe, "Pre-Validation of a Virtual Reality Tool to Quantify the Severity of Friedreich's Ataxia," 2023 IEEE 11th International Conference on Serious Games and Applications for Health (SeGAH), Athens, Greece, 2023, pp. 1-7, doi: 10.1109/SeGAH57547.2023.10253802.

 The results of this study demonstrate the feasibility of using VR with FA patients, although adaptation of the technology may be necessary for those with more severe impairments.