scholarly journals Gauging Gait Disorders with a Method Inspired by Motor Control Theories: A Pilot Study in Friedreich’s Ataxia

Sensors ◽  
2021 ◽  
Vol 21 (4) ◽  
pp. 1144
Author(s):  
Arnaud Gouelle ◽  
Samantha Norman ◽  
Bryanna Sharot ◽  
Stephanie Salabarria ◽  
Sub Subramony ◽  
...  
Keyword(s):  
Motor Control ◽  
Gait Analysis ◽  
Outcome Measures ◽  
Outcome Measure ◽  
Dynamic Instability ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
Assistive Device ◽  
Sample Population ◽  
Control Theories

To date, it has been challenging for clinicians and researchers alike to use the multiple outcome measures available to create a meaningful clinical picture and perform effective longitudinal follow-up. It has been found that instrumented gait analysis can provide information associated with a patient’s performance and help to remedy the shortcomings of the currently available outcome measures. The goal of this methodological article is to set the background and justify a new outcome measure inspired by the motor control theories to analyze gait using spatiotemporal parameters. The method is applied in a population of individuals living with Friedreich’s ataxia (FRDA), a neurodegenerative disease. The sample population consisted of 19 subjects, 11 to 65 years of age with FRDA, who either ambulated independently, with a cane, or with a rollator. Three scores based on the distance from healthy normative data were used: Organization Score, Variability Score, and an overall measurement, the Global Ambulation Score. The scores were then compared to the Scale for Assessment and Rating of Ataxia (SARA) Gait Score (SARA-GS), a clinical scale currently being used for gait analysis in FRDA. Organization Scores demonstrated a longitudinal deterioration in the gait characteristics from independent ambulators to those who ambulated with a rollator. Variability Scores mostly reflected dynamic instability, which became greater as the requirement of an ambulation aid or the switch from a cane to a rollator was imminent. The global value given by the Global Ambulation Score, which takes into consideration both the Organization Score, the Variability Score, and the level of assistive device, demonstrated a logarithmic relationship with the SARA-GS. Overall, these results highlight that both components introduced should be analyzed concurrently and suggest that the Global Ambulation Score may be a valuable outcome measure for longitudinal disease progression.

Otoneurological Findings in Friedreich's Ataxia and Other Inherited Neuropathies

1986 ◽  
Vol 25 (2) ◽  
pp. 84-91 ◽  
Author(s):  
E. Cassandro ◽  
F. Mosca ◽  
L. Sequino ◽  
F. A. De Falco ◽  
G. Campanella
Keyword(s):  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
Inherited Neuropathies

scholarly journals Echocardiographic Findings in Friedreich's Ataxia

1976 ◽  
Vol 3 (4) ◽  
pp. 329-332 ◽  
Author(s):  
H.F. Gattiker ◽  
A. Davignon ◽  
A. Bozio ◽  
J. Batlle-Diaz ◽  
G. Geoffroy ◽  
...  
Keyword(s):  
Friedreich’S Ataxia ◽  
Left Ventricular ◽  
Friedreich's Ataxia ◽  
Ventricular Free Wall ◽  
Slight Reduction ◽  
Free Wall ◽  
Left Ventricular Free Wall ◽  
Echocardiographic Examination ◽  
Septal Hypertrophy ◽  
Echocardiographic Findings

SUMMARY:Echocardiographic examination of 21 patients with Friedreich's ataxia (age 7 to 28 years) showed cardiac abnormalities in 90% of the cases. They were characterized by varying degrees of septal hypertrophy in 81%, left ventricular free wall hypertrophy in 61%, and a slight reduction of left ventricular internal dimension in 57% of the cases. Asymmetric septal hypertrophy (ASH) with a septal/left ventricular free wall ratio of over 1.3 was found in 29% of the cases, and systolic anterior motion (SAM) of the mitral valve in three patients. Two other patients showed evidence of a different type of cardiomyopathy with marked symmetric left ventricular hypertrophy and marked left ventricular enlargement.

Skeletal and Dental Correction and Stability Following LeFort I Advancement in Patients With Cleft Lip and Palate With Mild, Moderate, and Severe Maxillary Hypoplasia

2021 ◽  
pp. 105566562199610
Author(s):  
Buddhathida Wangsrimongkol ◽  
Roberto L. Flores ◽  
David A. Staffenberg ◽  
Eduardo D. Rodriguez ◽  
Pradip. R. Shetye
Keyword(s):  
Retrospective Study ◽  
Outcome Measures ◽  
Cleft Lip ◽  
Outcome Measure ◽  
Cleft Lip And Palate ◽  
Inclusion Criteria ◽  
Maxillary Hypoplasia ◽  
Main Outcome Measure ◽  
Lateral Cephalograms

Objective: This study evaluates skeletal and dental outcomes of LeFort I advancement surgery in patients with cleft lip and palate (CLP) with varying degrees of maxillary skeletal hypoplasia. Design: Retrospective study. Method: Lateral cephalograms were digitized at preoperative (T1), immediately postoperative (T2), and 1-year follow-up (T3) and compared to untreated unaffected controls. Based on the severity of cleft maxillary hypoplasia, the sample was divided into 3 groups using Wits analysis: mild: ≤0 to ≥−5 mm; moderate: <−5 to >−10 mm; and severe: ≤−10 mm. Participants: Fifty-one patients with nonsyndromic CLP with hypoplastic maxilla who met inclusion criteria. Intervention: LeFort I advancement. Main Outcome Measure: Skeletal and dental stability post-LeFort I surgery at a 1-year follow-up. Results: At T2, LeFort I surgery produced an average correction of maxillary hypoplasia by 6.4 ± 0.6, 8.1 ± 0.4, and 10.7 ± 0.8 mm in the mild, moderate, and severe groups, respectively. There was a mean relapse of 1 to 1.5 mm observed in all groups. At T3, no statistically significant differences were observed between the surgical groups and controls at angle Sella, Nasion, A point (SNA), A point, Nasion, B point (ANB), and overjet outcome measures. Conclusions: LeFort I advancement produces a stable correction in mild, moderate, and severe skeletal maxillary hypoplasia. Overcorrection is recommended in all patients with CLP to compensate for the expected postsurgical skeletal relapse.

scholarly journals A Framework for a New Approach to Empower Users Through Low-Cost and Do-It-Yourself Assistive Technology

2021 ◽  
Vol 18 (6) ◽  
pp. 3039
Author(s):  
Thais Pousada García ◽  
Jessica Garabal-Barbeira ◽  
Patricia Porto Trillo ◽  
Olalla Vilar Figueira ◽  
Cristina Novo Díaz ◽  
...  
Keyword(s):  
Assistive Technology ◽  
Outcome Measures ◽  
Design Thinking ◽  
Low Cost ◽  
Well Being ◽  
Pilot Project ◽  
Assistive Device ◽  
Preliminary Results ◽  
Do It Yourself ◽  
Principles Of Design

Background: Assistive Technology (AT) refers to “assistive products and related systems and services developed for people to maintain or improve functioning and thereby to promote well-being”. Improving the process of design and creation of assistive products is an important step towards strengthening AT provision. Purpose: (1) to present a framework for designing and creating Low-Cost AT; (2) to display the preliminary results and evidence derived from applying the framework. Methodology: First, an evidence-based process was applied to develop and conceptualize the framework. Then, a pilot project to validate the framework was carried out. The sample was formed by 11 people with disabilities. The measure instruments were specific questionnaire, several forms of the Matching Person-Technology model, the Psychosocial Impact of Assistive Device Scale, and a tool to assess the usability and universal design of AT. Results: The framework integrates three phases: Identification (Design), Creation (Making the prototype), and Implementation (Outcome Measures), based on the principles of Design Thinking, and with a user-centered perspective. The preliminary results showed the coherence of the entire process and its applicability. The matching between person and device was high, representing the importance of involving the user in the design and selection of AT. Conclusions: The framework is a guide for professionals and users to apply a Low-Cost and Do-It-Yourself perspective to the provision of AT. It highlights the importance of monitoring the entire procedure and measuring the effects, by applying the outcome measures.

Square Wave Jerks in Friedreich's Ataxia

1978 ◽  
Vol 85 (3) ◽  
pp. 400-406 ◽  
Author(s):  
Robert T. Dale ◽  
Albert W. Kirby ◽  
Robert S. Jampel
Keyword(s):  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
Square Wave

scholarly journals Future Prospects of Gene Therapy for Friedreich’s Ataxia

2021 ◽  
Vol 22 (4) ◽  
pp. 1815 ◽  
Author(s):  
Gabriel Ocana-Santero ◽  
Javier Díaz-Nido ◽  
Saúl Herranz-Martín
Keyword(s):  
Gene Therapy ◽  
Viral Vectors ◽  
Autosomal Recessive ◽  
State Of The Art ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
First Intron ◽  
Progressive Neurodegeneration ◽  
Feasible Solutions ◽  
Neurogenetic Disease

Friedreich’s ataxia is an autosomal recessive neurogenetic disease that is mainly associated with atrophy of the spinal cord and progressive neurodegeneration in the cerebellum. The disease is caused by a GAA-expansion in the first intron of the frataxin gene leading to a decreased level of frataxin protein, which results in mitochondrial dysfunction. Currently, there is no effective treatment to delay neurodegeneration in Friedreich’s ataxia. A plausible therapeutic approach is gene therapy. Indeed, Friedreich’s ataxia mouse models have been treated with viral vectors en-coding for either FXN or neurotrophins, such as brain-derived neurotrophic factor showing promising results. Thus, gene therapy is increasingly consolidating as one of the most promising therapies. However, several hurdles have to be overcome, including immunotoxicity and pheno-toxicity. We review the state of the art of gene therapy in Friedreich’s ataxia, addressing the main challenges and the most feasible solutions for them.

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