Neuroanatomic and neuropsychological outcome in school-age children with achondroplasia

We previously reported on cognitive and respiratory factors in a series of infants with achondroplasia (ACH). We now present the results of neuropsych ological evaluation and magnetic resonance imaging in 16 school-age childre n with AGH, 7 of whom had been included as infants in our previous report. We examined the neuroanatomic and cognitive status of this sample, as well as the predictive stability of the prior infant assessment. Seventeen norma lly developing children of average stature and 21 preterm children with arr ested (compensated, unshunted) hydrocephalus constituted the comparison gro ups. Brain volumes of children with ACH were significantly larger than thos e of the comparison groups. In addition, children with ACH exhibited kinkin g of the medulla and neuroanatomic abnormalities consistent with arrested h ydrocephalus, including enlarged ventricles and hypoplasia of the corpus ca llosum, Cognitive abilities at school age were average, although mild defic its were seen on visual-spatial tasks, similar to those obtained by the hyd rocephalic comparison group. Only gross motor coordination deficits disting uished the ACH group from the hydrocephalic controls. Infant assessment ove restimated later school-age IQ scores in those infants with ACH who scored above average. These findings point to, generally preserved cognitive skill s in selected children with ACH at early school age, although children with ACH should be evaluated individually as they are at risk for cognitive, ac ademic, and motor deficits. (C) 1999 Wiley-Liss, Inc.