Neurocognitive Functioning of Pediatric and Young Adult Patients with Gaucher Disease, Type 1

Abstract

This exploratory study aimed to evaluate the cognitive and executive functioning of sixteen pediatric and fifteen young adult (ages 5 through 30) patients with Gaucher disease, Type 1. The neurocognitive functioning of children with Gaucher disease, Type 1 was based on self- and parent-proxy reports while neurocognitive functioning in young adults was based on self-report only. Results showed that pediatric participants with Gaucher disease, Type 1 on self-report demonstrated a trend toward weaker cognitive functioning than healthy children. Parent proxy-reports did not show significantly different cognitive functioning of children with Gaucher disease, Type 1 compared to healthy peers. Young adults with Gaucher disease, Type 1 self-reported no significant differences in cognitive functioning from healthy young adults. No group differences in executive functioning were observed for child or young adult samples. Parent-reported disease severity was not associated with cognitive outcomes among the pediatric or young adult samples. Results suggest possible mild cognitive weaknesses among children with Gaucher disease, Type 1 while cognition in young adults appears relatively well preserved. This is the first independent examination of cognitive functioning among children and young adults with GD1. Additional studies in younger patients with Gaucher disease, Type 1 are needed to identify possible cognitive dysfunction and elucidate underlying mechanisms.