This study examines the long-term cognitive and academic outcomes of 11 individuals with infantile onset Pompe disease (IOPD) treated with enzyme replacement therapy from an early age. All participants were administered individual intelligence tests (Wechsler or Leiter scales or both), a measure of their academic skill levels (Woodcock-Johnson Tests of Achievement), and a screening measure of visual-motor integration ability (Beery-Buktenica).
Two distinct subgroups emerged based on participants’ average or below average performance on the majority of academic subtests. Those participants with below average academic skills (n=6) demonstrated average nonverbal cognitive abilities on the Leiter, but had weaknesses in speech and language skills and greater medical involvement. Their profiles were more consistent with a learning disability diagnosis than an intellectual disability. Participants with average academic skills (n=5) demonstrated average cognitive abilities (verbal and nonverbal) on the Wechsler scales and less medical involvement. Their speech and language skills appeared to be more intact. However, both groups earned below average median scores on the Beery-Buktenica motor coordination task.
`This study highlights the importance of using appropriate tests to capture both verbal and nonverbal abilities, considering each individual’s motor skills, speech and language abilities, hearing status and native language.
