Cognitive and academic outcomes in long-term survivors of infantile-onset Pompe disease: A longitudinal follow-up.

摘要: This study examines the long-term cognitive and academic outcomes of 11 individuals with infantile onset Pompe disease (IOPD) (median age=11years, 1month, range=5years, 6months through 17years age) treated enzyme replacement therapy from an early age. All participants (7 males, 4 females) were administered individual intelligence tests (Wechsler or Leiter scales both), a measure their skill levels (Woodcock-Johnson Tests Achievement), screening visual-motor integration ability (Beery-Buktenica). Consistent our earlier findings, median IQ scores for entire group on Wechsler (median=84) (median=92) continue to fall at lower end average range compared same-aged peers. The (median=76), visual perception (median=74) motor coordination (median=60) below average. Two distinct subgroups emerged based participants' performance majority subtests. Those skills (n=6) demonstrated nonverbal abilities Leiter, but had weaknesses in speech language greater medical involvement. Their profiles more consistent learning disability diagnosis than intellectual disability. these showed significant decline (15 23 points, respectively) repeated scales, one continued earn where verbal demands are minimal. Participants (n=5) (verbal nonverbal) less appeared be intact. However, both groups earned Beery-Buktenica task. highlights importance using appropriate capture abilities, considering each individual's skills, hearing status native language. will allow accurate assessment whether there is Long-term may related stability expressive and/or receptive over time. Changes domain account observed some IOPD survivors, reflecting rather overall cognition These observations, conjunction neuroimaging, further understanding neurocognitive profile survivors.