A-100 Neuropsychological Findings in a Case Involving a Rare Genetic Anomaly (de novo 6q24.2-q25.2 deletion on paternal chromosome 6) Associated with Intrauterine Growth Restriction (IUGR), Autism, OCD and Schizoaffective Disorder

Abstract

Abstract Objective Individuals with deletions of the long arm of chromosome 6 have been known since 1975 with just over 100 cases reported as of 2015. Individuals with deletions involving band 6q25 have a high incidence of intrauterine growth retardation, intellectual disability, dysmorphic features, growth failure, and medical complications (Stagi et al, 2015). Findings will add to the literature base on this genetic anomaly. Methods A 21-year-old male was assessed to differentiate between obsessive vs. psychotic thinking. His history was notable for being born weighing 2300 grams at term, and having feeding, learning and social/emotional difficulties which progressed to OCD in later childhood. At age 15, he was determined to have a de novo 3.7 Mb microdeletion at 6q24.3. Results Neuropsychological assessment of attention, motor and executive functions reveal a variable profile with pockets of strengths relative to his own performance as well as significant normative impairment. Findings represented a significant decline from prior testing at age 10. His verbal memory was below average and his overall attention capacity was impaired. JT’s executive functioning, visual-motor integration, motor speed, and his verbal abstract reasoning were all below average. His non-verbal abstract reasoning and visual perception were intact. On results of objective, projective and neurocognitive testing, JT met criteria for diagnoses of Autism, Obsessive Compulsive Disorder, and Schizoaffective Disorder. Conclusions JT’s developmental history and symptom presentation are complex, revealing significant comorbidity; this case study describes the progression of JT’s difficulties over his lifespan, beginning with feeding difficulties, diagnoses of autism and OCD and progressing to a psychotic disorder.