Exploring variability in cognitive functioning in patients with spinal muscular atrophy: a scoping review

Area of Science:

• Neurology
• Genetics
• Rehabilitation Medicine

Background:

• Cognitive functioning in spinal muscular atrophy (SMA) remains poorly understood.
• Research is needed to clarify cognitive involvement and its relationship with clinical features in SMA patients.

Purpose of the Study:

• To explore recent findings on cognitive outcomes in spinal muscular atrophy (SMA) patients.
• To identify common measures for assessing cognitive function in this population.
• To examine correlations between clinical features and cognitive abilities in SMA.

Main Methods:

• A scoping review adhering to Joanna Briggs Institute methodology was conducted.
• Literature searches were performed on two databases and reference lists until December 2023.
• Included studies were peer-reviewed, English-language articles focusing on SMA and cognitive function.

Main Results:

• Thirteen articles were included from 1452 initial records.
• Most studies indicated cognitive abilities within the normal range for SMA patients.
• Type I SMA patients may show affected cognitive domains, while types II and III appear less impacted.

Conclusions:

• The majority of spinal muscular atrophy (SMA) patients demonstrate cognitive abilities similar to the general population.
• Cognitive impact varies by SMA type, with potential specific domain involvement in Type I.
• Further investigation is warranted to comprehensively understand cognitive function in SMA.