Cognitive outcomes of a personalized stimulation protocol in Hurler-Scheie syndrome: A single-case study

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Abstract

Preserving neurocognitive function is essential for maintaining autonomy in individuals with chronic conditions. Hurler-Scheie syndrome (HS), a rare metabolic disorder, has been associated with domain-specific cognitive impairments, particularly in attention and memory. This single-case study explored the cognitive outcomes of a personalized cognitive stimulation (CS) protocol targeting these domains in a 34-year-old male with HS. The intervention comprised 62 tailored activities administered over six weeks, designed to stimulate auditory and visual modalities of attention and memory. Neuropsychological assessments were conducted pre- and post-intervention using standardized batteries. Post-intervention results indicated preserved performance across all domains, with no decline relative to baseline. Notably, improvements were observed in auditory attention, verbal auditory memory, and long-term visual recall. Upward trends were also observed in divided visual attention and processing speed. While causal inferences are limited by the study design, these findings suggest that personalized CS may be a feasible and promising approach for supporting cognitive function in individuals with HS and highlight the need for further research using single-case experimental designs.

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