Longitudinal neurocognitive outcome in an adolescent with Hurler-Scheie syndrome

T David Elkin¹, Gail Megason², Anita Robinson², Hans-Georg O Bock³, Gregory Schrimsher¹, Joseph Muenzer²

The University of Mississippi Medical Center, Departments of ¹Psychiatry, ²Pediatrics, ³Preventive Medicine, The University of North Carolina at Chapel Hill, Jackson, MS, USA

Abstract: An adolescent with Hurler-Scheie syndrome is reported. This now 15 year-old young woman was initially diagnosed at age 4. She was assessed for neurocognitive functioning at ages 5, 13, and 15 years. Results show a significant decline in intellectual functioning from the superior range to the average range from age 5 to age 13, and then no change from age 13 to age 15. The relationship between Hurler-Scheie syndrome, premorbid intellectual functioning, and cognitive–behavioral interventions are discussed in light of the longitudinal neurocognitive effects of this disease.

Keywords: Hurler-Scheie syndrome, adolescent, neurocognitive function