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Neuroanatomic and neuropsychological outcome in school-age children with achondroplasia
N M Thompson1, J T Hecht, T P Bohan
1Department of Psychiatry, University of Texas Health Science Center at San Antonio, USA.
Insights
Children with achondroplasia (ACH) show average cognitive skills at school age, despite brain abnormalities. Early assessments may overestimate later IQ, highlighting the need for individual evaluation due to risks of cognitive and motor deficits.
Area of Science:
- Pediatric Neurology
- Neurodevelopmental Disorders
- Skeletal Dysplasias
Background:
- Achondroplasia (ACH) is a common skeletal dysplasia.
- Previous studies reported on cognitive and respiratory factors in infants with ACH.
- Neuroanatomic and cognitive status in school-age children with ACH requires further investigation.
Purpose of the Study:
- To evaluate the neuroanatomic and cognitive status of school-age children with ACH.
- To assess the predictive stability of infant assessments for later cognitive function.
- To compare neuroanatomic and cognitive outcomes in ACH with typically developing children and those with arrested hydrocephalus.
Main Methods:
- Neuropsychological evaluation and magnetic resonance imaging (MRI) in 16 school-age children with ACH.
- Comparison with 17 typically developing children and 21 preterm children with arrested hydrocephalus.
- Analysis of brain volumes, neuroanatomic abnormalities, and cognitive abilities.
Main Results:
- Children with ACH had significantly larger brain volumes than comparison groups.
- Neuroanatomic abnormalities in ACH included medullary kinking, enlarged ventricles, and corpus callosum hypoplasia.
- Cognitive abilities were generally average, with mild visual-spatial deficits; gross motor deficits were noted.
Conclusions:
- Selected school-age children with achondroplasia demonstrate generally preserved cognitive skills.
- Infant cognitive assessments may overestimate later IQ in some children with ACH.
- Individual evaluation is crucial for children with ACH due to risks for cognitive, academic, and motor deficits.
Abstract:
We previously reported on cognitive and respiratory factors in a series of infants with achondroplasia (ACH). We now present the results of neuropsychological evaluation and magnetic resonance imaging in 16 school-age children with ACH, 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 normally developing children of average stature and 21 preterm children with arrested (compensated, unshunted) hydrocephalus constituted the comparison groups. Brain volumes of children with ACH were significantly larger than those of the comparison groups. In addition, children with ACH exhibited kinking of the medulla and neuroanatomic abnormalities consistent with arrested hydrocephalus, including enlarged ventricles and hypoplasia of the corpus callosum. Cognitive abilities at school age were average, although mild deficits were seen on visual-spatial tasks, similar to those obtained by the hydrocephalic comparison group. Only gross motor coordination deficits distinguished the ACH group from the hydrocephalic controls. Infant assessment overestimated later school-age IQ scores in those infants with ACH who scored above average. These findings point to generally preserved cognitive skills in selected children with ACH at early school age, although children with ACH should be evaluated individually as they are at risk for cognitive, academic, and motor deficits.