A - 51 Neuropsychological Development in Twins with Chromosome 7p14.1 Duplication

Objective The aim of this study is to evaluate the neuropsychological development of female identical twins with a history of cognitive and language deficits as well as psychiatric symptoms. Each patient has notable genetic history for de novo chromosome 7p14.1 duplication. At this time, 7p14.1 duplication is classified as a variant of uncertain significance. Method Results were reviewed from neuropsychological evaluations at an outpatient neuropsychology clinic at a children’s hospital when the patients were 13, 14, and 17 years of age. The patients were evaluated across multiple neuropsychological domains. Results Both patients have exhibited significant deficits in numerous areas of cognitive and adaptive functioning since their initial evaluation. Across time, both patients have shown a lack of development in their overall intelligence, with current functioning between a 6- and 11-year-old level. Despite frequent exposure to English since six years of age, including several years of monolingual English academic instruction, they both continue to demonstrate severe receptive and expressive English language deficits, requiring the need for Spanish interpreters for all evaluations. In addition, both twins have exhibited symptoms of depression, anxiety, and psychosis (e.g., command hallucinations). Conclusions Results from this study reveal similar neuropsychological profiles across time in identical twins with an understudied chromosomal mutation. Key findings include diagnoses of Intellectual Disability and Language Disorder as well as histories of serious psychiatric symptoms. Our findings add to the limited literature on neuropsychological profiles in individuals with chromosome 7p14.1 duplication.