It is unclear why different testing methods yielded discordant results. Any dysfunction suggested by the current study is apparently subtle and of doubtful clinical relevance given that cognitive status did not interfere with patients' daily intellectual function. The computerized battery has methodological advantages (e.g., language options, objectivity, brevity, and ease of use) that make it well-suited for longitudinal studies, for long-term surveillance of substrate reduction therapy as well as for comparisons with other lysosomal storage disorders and other chronic diseases. These preliminary findings should allay fears of cognitive dysfunction due to short-term miglustat therapy.

Cytomegalovirus infection causes diffuse reduction in ADC values in the fetal brain even in unremarkable fetal MR imaging scans. Cytomegalovirus-infected children with unremarkable fetal MR imaging scans do not deviate from the healthy population in the VABS-II neurocognitive assessment. ADC values were not correlated with VABS-II scores. However, the lack of clinical findings, as seen in most cytomegalovirus-infected fetuses, does not eliminate the possibility of future neurodevelopmental pathology.

The purpose of this pilot study was to evaluate developmental neuropsychological profiles of 4- to 5-year-old children born after Preimplantation Genetic Diagnosis (PGD). Twenty-seven participants received a neurological examination and a battery of neuropsychological assessments including Wechsler Preschool & Primary Scale of Intelligence - Third Edition (WPPSI-III; cognitive development), Preschool Language Scale, Fourth Edition (PLS-4; language development), Wide Range Assessment of Visual Motor Abilities (visual motor abilities), Childhood Autism Rating Scales II (a screening test for autistic spectrum disorders), and the Miles ABC Test (ocular dominance). Parental questionnaires included the Behavior Rating Inventory of Executive Function Preschool Version (BRIEF-P; executive function), Child Behavior Checklist (CBCL) and the Carey Temperament Scales Behavioral Style Questionnaire (socioemotional development and temperament), and the Vineland Adaptive Behavior Scales, Interview Edition, Second Edition (general adaptive behavior). Subjects' tests results were compared to each test's norms. Children born after PGD demonstrated scores within the normal or above-normal ranges for all developmental outcomes (mean ± SD): WPPSI-III-VIQ 107.4 ± 14.4 (p = .013), PLS-4-Total 113.2 ± 12.4, p < .001), CBCL-Total 41.1 ± 8.6 (p < .001), BRIEF-P-Global Executive Composite 44.8 ± 9.5 (p = .009). Twelve (44%) of the PGD children had a significant difference between their VIQ and PIQ scores (compared to 27% in the general population). One subject was found to show possible signs of autistic spectrum disorder, although a family history of autism was noted. In conclusion, in this pilot study, children assessed at age 4-5 years and conceived after PGD displayed developmental neuropsychological outcomes within normal limits as compared to their chronologic peers. A larger study is needed to evaluate and follow the neuropsychological development of children born after PGD.

The Klüver-Bucy syndrome is characterized by psychic blindness or visual agnosia, blunted affect, hypermetamorphosis, hyperorality, bulimia, and sexual behavioral alterations. To date, there have been fewer than 10 reported cases of Klüver-Bucy syndrome in children, most of them irreversible. We describe here a reversible case of the complete Klüver-Bucy syndrome in a child suffering from Shigella encephalopathy.

Standardized neuropsychological test batteries demonstrate their greatest reliability and validity in patients with focal, well-defined neurologic disease. In these patients, the test profiles typically highlight focal areas of strengths and weaknesses in the brain. However, the clinical utility of standard test batteries and their reliance on scaled score differences is limited when evaluating patients with severe or diffuse neurobehavioral disorders. In the present case study, we applied the qualitative approach of Alexander Luria to the neuropsychological evaluation of a severely impaired adolescent, unable to complete psychometric tests. Luria's investigative method was able to assist in the localization of the brain dysfunction and the neurologic diagnosis of a young patient with an unusual neurologic presentation secondary to serious multisystem disease. The initial neuropsychological diagnostic impressions were later confirmed by diagnostic testing. The test results were also used to provide recommendations for ongoing neurorehabilitation of the patient.