The combined quantitative/qualitative protocol is an important advancement in evaluating individuals with DS and should be integrated into a more comprehensive evaluation of dynamic gait and lower limb analysis.

These findings help to elucidate the complex biomechanical strategy of people with DS during a step ascent and descent movement task and may have a major role in the multidimensional evaluation and tailored management for them.

The aim of this case study was to record and highlight the functional decline in a 23 year old man diagnosed with atypical juvenile neuronal ceroid lipofuscinoses/Batten Disease [AJNCL] with a ceroid lipofuscinoses-neuronal associated gene mutation (CLN1). The patient was monitored during three different sessions over a 3 year period using a three-dimensional (3D) motion analysis system. The results revealed a significant decline in the patient's motor functions over time with a gait pattern progressively more impaired from the physiologic pattern. From the recorded data, the changes in the patient's gait as a function of the disease progression was able to be objectively measured. The findings are important since a biomechanical evaluation using 3D motion analysis may offer more defined treatment approaches in the physical therapy program of patients with Batten disease.

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