A – 51 The Clinical Utility of Longitudinal Neuropsychological Evaluation in Pediatric Spastic Paraplegia Type 4: A Case Study

Abstract Objective Hereditary spastic paraplegias (HSP) comprise a heterogenous set of neuromuscular degenerative diseases characterized by progressive lower limb spasticity and weakness. Childhood-onset HSP can be complicated by developmental delay and later intellectual disability; however, there are limited case studies that include data from comprehensive neuropsychological evaluations. The purpose of this study is to demonstrate the utility of repeat neuropsychological testing in the monitoring and management of a child with genetically confirmed Spastic paraplegia, Type 4 (SPG4). Method The patient was a 9-year-old left-handed, Hispanic male with childhood-onset HSP that genetic testing revealed was consistent with autosomal-dominant de novo mutation in the SPAST gene (SPG4). History was remarkable for global developmental delay, incontinence, headaches, acquired equinus deformity of both feet, gait abnormality, hypometabolism, and obesity. Prior evaluation at age 6 revealed variable intellectual and adaptive functioning, and intervention services targeting academic and attentional weaknesses were recommended. Results On 3-year follow-up, the patient’s visual-spatial abilities, attention, language, memory, motor coordination, and emotional/behavioral and adaptive functioning had declined. Findings were consistent with intellectual disability, mild, adjustment disorder with mixed anxiety and depressed mood, and ADHD, combined type. Conclusion Recommendations were made to initiate placement on the Developmental Disability Waiver and Supplemental Security Income, modify the patient’s special education programming, continued monitoring and medication management with neurology and psychiatry, and participation in social/athletic activities focused on special needs individuals. This study demonstrates the utility of repeated neuropsychological evaluation in children with HSP in order to facilitate access to targeted interventions and psychosocial supports that can lead to improved outcomes.