A - 54 Neuropsychological Functioning in Rare Chromosome Duplication: a Case Study

Abstract Objective The purpose of this case study is to examine the neuropsychological profile of a child who presents with a rare genetic presentation given that little is known about the significance of this genetic finding. This case study highlights the potential influence of genetic heritability, specifically chromosome duplication (Xq23 gain), and observed medical, neurological, and behavioral sequelae. Method This project includes the retrospective case review of a 10-year-old, left-handed African American male who was referred for neuropsychological evaluation. Medical history is significant for microcephaly, global developmental delay, dysmorphic features, short stature, feeding problems, and nocturnal enuresis. Brain-MRI initially revealed delayed myelination in the bilateral peritrigonal white matter and later showed an interhypothalamic lesion. EEG was significant for rare spike and wave in the left parietal region. Genetic testing revealed maternal inherited Xq23 gain of unclear clinical significance. He completed a neuropsychological evaluation including measures of intelligence, fine-motor skills, memory, academic achievement, and language. His mother completed standardized ratings of behavioral and adaptive functioning. Results The results revealed exceptionally low cognitive abilities and adaptive skills. Age equivalents for motor, language, adaptive, and academic skills were generally consistent with that of a four to five-year-old. Detailed data from the neuropsychological profile will be presented and discussed. Conclusions This case study demonstrates neuropsychological functioning in the context a poorly understood chromosome duplication (Xq23 gain) aiming to increase understanding of the potential cognitive phenotype and neurological manifestation of this rare presentation. This case highlights the important role of neuropsychological evaluation in clinical care and scientific exploration of rare conditions.