A-053 Importance of Neuropsychological Assessment in a Patient with DiGeorge Syndrome

Abstract

Abstract Objective 22q11.2 Deletion Syndrome, (DiGeorge Syndrome), is a genetic disorder which commonly causes heart defects, a submucosal cleft palate, and other health conditions, in addition to developmental delays. Individuals with DiGeorge Syndrome are more likely to have Attention-Deficit Hyperactivity Disorder (ADHD) and Autism Spectrum Disorder (ASD), with research also supporting a high risk for developing schizophrenia in adulthood. Method In this case study, a 22-year-old woman presented with DiGeorge Syndrome and trunkus arteriosus at the Department of Human Services (DHS) for employment services. Additionally, the patient’s parents reported concerns about behavioral outbursts and emotional regulation difficulties for the last three years. The patient completed a full neuropsychological, cognitive, and emotional assessment battery to help understand any neurocognitive and psychological limitations in obtaining and maintaining employment. Results On neurocognitive testing, she performed in the Severely Impaired range on measures of attention, processing speed, working memory, verbal memory, visual memory, visuospatial ability, motor functioning, and nonverbal problem solving. While performing in the Moderately Impaired range for tactile memory, verbal fluency, and cognitive flexibility. However, the patient exhibited a personal strength on the Verbal Comprehension Index of the Wechsler Adult Intelligence Scale—Fourth Edition (WAIS-IV). On emotional functioning testing, she did not display early signs of schizophrenia nor psychosis. However, the patient did express emotional and behavioral signs of ADHD and ASD. Conclusion This case study emphasizes the need for neuropsychological testing and ongoing psychological monitoring for individuals with DiGeorge Syndrome, as it relates to treatment recommendations and planning.