A-186: Chromosome Ring 13 Neuropsychological Case Evaluation

Abstract

Objective: Ring Formation Of Chromosome 13 is a rare (1/58K) genetic disorder that results in microcephaly, facial dysmorphism, ambiguous genitalia, anal atresia, eye malformations, retino-blastoma, and extremity abnormalities. The phenotype depends on the amount of genetic material lost during ring chromosome formation. While literature references “mental retardation” as a core feature, there is scant data in the literature and none in older adults. We present a 62-year-old female with CH13 deletion referred due to memory concerns. Method/Data Selection: A review of neuropsychological report along with prior medical and academic records. Results/Data Synthesis: Full term underweight female with microcephalia who displayed poor sucking, early speech problems, left eye esotropia, selective mutism and shyness. Adulthood was marked by hypertension and hyperlipidemia with poorly controlled albeit currently stable diabetes. Early testing revealed low average nonverbal intellect with current assessment revealing a decline in select areas. Current assessment revealed exceptionally high to average rote verbal recall, sematic fluency and naming with variably impaired problem solving, phonemic fluency and spatial constructional deficits. Conclusions: This is the first indepth longitudinal neurocognitive profile associated with Chromosome 13 deletion in an older adult. While the literature references often severe intellectual problems this current patient displayed low average intellect with relative memory and language stability and slight declines in spatial and executive functions. The profile argues against Alzheimer’s disease with decline likely driven by poorly controlled vascular risk and mood factors.