Ataxia Telangiectasia, Dysmetria
Conditions
Keywords
Eye movements, Saccades, Unstable gaze holding, Rehabilitation
Brief summary
Ataxia-telangiectasia (A-T) is a multisystem auto-somal recessive disorder linked to the A-T mutated gene (ATM) on chromosome 11q22-23, and characterized by progressive neural degeneration, immunodeficiency, and progressive ocular motor dysfunction. In previous studies, the quantitative description of the ocular motor deficits from clinical examination was limited to various defects in saccade and gaze control, dysmetric saccades, impairments of smooth pursuit, gaze holding, convergence, vestibular and optokinetic nystagmus slow phases, and cancellation of the vestibulo-ocular reflex. The aim of our research is to add existing findings with quantitative description of oculomotor patterns in A-T patients using videooculography (VOG).
Interventions
None listed
Sponsors
Federal Research Institute of Pediatric Hematology, Oncology and Immunology
Study design
Observational model
CASE_ONLY
Time perspective
RETROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
8 Years to 17 Years
Healthy volunteers
Yes
Inclusion criteria
* confirmed diagnosis of ataxia telangiectasia, * informed consent, * stay at the Clinical Research Rehabilitation Center Russkoe Pole for 14 days.
Exclusion criteria
* epilepsy, * poor visual acuity, inability to percept from a computer monitor, * inability to hold head and posture satisfactory to perform the tasks, * difficulty to obtain adequate recordings due to corrective lenses, * visual field defects.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Gaze holding task | baseline, during the intervention-rehabilitation course (once) | A fixation task in which the subject will require to look at a target-a green circle (diameter \ 1) sequentially presented at eccentric (15 rightward and leftward, 8 upward and downward) positions, each eccentric position being sustained for 20 s. Gaze-holding score will be assessed for each circle by approximating the gaze position coordinates by the least squares method to obtain the best correspondence using the fit function. The areas of the obtained ellipses, reflecting the spread of gaze position coordinates, will be determined for each of the four circle positions in each subject. Areas will be expressed in square visual degrees (sq. deg.) |
| Visual search task | baseline, during the intervention-rehabilitation course (once) | Ten black circles (diameter \ 1) will be presented on the monitor distributed pseudorandomly over the screen. Subjects will be instructed to count silently the number of points and give a verbal response. Study parameters: the performance time, the number of fixations, their durations, the total length of the scanning trajectory, and the saccade amplitude. |
| Visually guided saccade task | baseline, during the intervention-rehabilitation course (once) | The subject will be required to follow a target jumping their gaze from one corner of the square to the next as quickly as possible as soon as a circle appeared; saccades will be required in order to do this (An image of a square with side length 10° will be presented on the monitor and a red circle (diameter \ 1°) appeared in the corners sequentially in the clockwise direction.) Study parameters: the total number of saccades completed, the proportions of relatively accurate (A in the range 8.5-11.5°), hypometric (short, A \< 8.5°), and hypermetric (long, A \> 11.5°), and corrective saccades (occurring only after dysmetric saccades, 1.5° \< A \< 5°); |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Scale for the assessment and rating of ataxia | baseline, during the intervention-rehabilitation course (once) | A clinical scale that is based on a semi-quantitative assessment of cerebellar ataxia on an impairment level. |
Countries
Russia
Outcome results
None listed