A - 111 Neuropsychological Performance in CDK-13 Related Disorder: a Multi-Year Case Study

Abstract Objective CDK13-related disorder (CDK13-RD) is a rare genetic condition first described in 2016 as involving congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (CHDFIDD). Few studies have reported clinical presentations. There is very minimal information about cognitive and neuropsychological outcomes; however, developmental delays and intellectual disability are common. This study presents longitudinal neuropsychological outcomes of one adolescent with CKD13-RD. Method A female patient underwent five neuropsychological evaluations over eight years due to learning concerns. Pregnancy complications included recurrent maternal infections/treatment and fetal heart deceleration. The patient was born at full-term with average birthweight. Patient’s history includes developmental delays, cerebral palsy, learning disabilities, anxiety, atrial septal defect, abnormal MRI and EEG, submucous cleft palate, velopharyngeal insufficiency, and craniofacial dysmorphisms. Genetic tests confirmed a likely pathogenetic variant in the CDK13-gene at 9-years-old. Results Patient’s intellectual functioning varied during the five evaluations, with heterogeneous performance across indices. Verbal comprehension was often a strength in the low average to average ranges. Visual perception, nonverbal reasoning, fine motor coordination/planning, attention, and aspects of executive functioning were consistently impaired. Memory across evaluations was variable but broadly average. Caregiver reports revealed increasing executive and adaptive functioning concerns and fluctuating mood/behavioral concerns across evaluations. Conclusions Patient’s overall intellectual functioning is generally stronger than expected compared to the few available studies. This case adds to the scarce literature on neuropsychological outcomes in children with CKD13-RD and helps elucidate developmental trends given these serial results. Additional research is needed to better understand neuropsychological presentations and long-term outcomes in children with CKD13-RD.