NEPSY-II: A Developmental Neuropsychological Assessment, Second Edition

Normative studies of variability in performance by healthy adults on neuropsychological batteries are reviewed. Regarding test score scatter, normative participants often have large discrepancies between best and worst scores. When "abnormality" was defined as a score more than one standard deviation below the mean, in test batteries with at least 20 measures, the great majority of normative participants had one or more abnormalities. Restricting samples to participants with above average IQ or educational levels and using more conservative definitions of abnormality, such as two standard deviations below the mean did not eliminate the presence of abnormal scores. We conclude that abnormal performance on some proportion of neuropsychological tests in a battery is psychometrically normal. Abnormalities do not necessarily signify the presence of acquired brain dysfunction because low scores and large intraindividual variability often are characteristic of healthy adults. We recommend that test battery developers provide data on the amount of variability in normal samples and also provide base rate tables with false positive rates that can be used clinically when interpreting test performance.

Between October 2001 and September 2007, a total number of 391,651 neonates were screened in Victoria using Tandem Mass Spectrometry and 6 newborns were diagnosed as having GA I, giving an incidence of 1:65,275 (CI: 1:29,988=1:177,861). Another patient was diagnosed through cascade screening of children born before the implementation of the expanded newborn screening program. Patients were treated by mild protein restriction (2-2.5 g/kg/day) and carnitine supplementation when well, focussing on the aggressive management of intercurrent illnesses (temporary cessation of protein intake, increase in calorie intake, IV carnitine, aggressive anti febrile and anti infectious treatment), including prophylactic admissions to hospital. Overall, our patients had 35 admissions to hospital, of which 15 were in the first year of life. None had a post infectious dystonic syndrome. Neuropsychological examinations revealed normal to high cognitive and gross motor function in all patients but one, with some deficiencies in fine motor activities and different levels of speech abnormalities in all patients. Since therapeutic approaches for GA I, although not uniform, are well established and have been documented to be effective, newborn screening for this disorder should prove justified. A therapeutic approach of dietary modification, IV carnitine and aggressive treatment of intercurrent illness seems to prevent the severe neurological complications of GA I. More in-depth consideration of speech and language function is necessary to document specific deficits in children with GA I and plan proactive interventions.