Background:
Reliable and accurate assessment of motor function among children with rare neurologic disorders is critical for tracking disease progression and identifying a response to therapy. The diversity of motor presentation in children with ataxia telangiectasia (A-T) highlights the need for consideration when comparing motor outcomes over time. This study aimed to identify motor measures that are sensitive to both developmental changes and motor abilities.
Methods:
We systematically selected functional outcome measures by:
•Reviewing literature to identify key motor domains affected by A-T and measures used in similar populations
•Developing a systematic approach to select motor measures that are reliable across age groups longitudinally, allow for test–retest consistency, allow best effort performance, minimize floor and ceiling effects, demonstrate relevance to daily activities. We prioritized measures supported by normative data
Motor based measures considered for by construct:
•Functional motor performance: 4 stair climb, 4 stair descend, supine to stand test, 100m run test, broad jump, TUG, 30 second sit to stand, 5 time sit to stand, figure 8 walking test, 4 square test, 6 minute walk test
•Balance: Pediatric balance scale
•Fine Motor: 9-hole peg test, 10 pellet test
•Strength: Dorsiflexion and plantarflexion, and grip strength
•Ataxia: SARA, BARS
•Quality of life: PROMIS fatigue parent proxy, early childhood and self-measure
Results and Conclusion:
Preliminary analyses suggest the 4-stair climb, pediatric balance scale, 9-hole peg test, and SARA ataxia scale may be sensitive to motor decline in children with A-T. Fatigue and engagement may affect performance in younger participants and should be considered when selecting motor outcomes. Implementing a standardized, systematic assessment approach is likely to improve consistency and reliability in detecting motor changes within rare disease populations.