A – 58 Neuropsychological Profile of an Early Adolescent with Chromosome 5 Inversion

Abstract Objective This case highlights the neuropsychological presentation of an 11-year-old boy with a chromosomal inversion (5q13q34) and global developmental delays. The scant literature on chromosome 5 abnormalities focuses on deletions, which are associated with intellectual disability, motor delays, and distinct facial features (Nguyen et al., 2015); some shared features are found in limited literature on inversions (Goodart et al., 1996). Still, neurocognitive implications of these rare inversions remain poorly understood. This case adds to the literature by illustrating how poly-etiologic factors—chromosome 5 inversion, neuromotor concerns, developmental delays—converge towards a neuropsychological profile with moderate intellectual disability and complex behavioral/affective presentation. Method Neuropsychological evaluation included clinical interview and observation, record review, and a comprehensive battery assessing cognitive, academic, language, memory, and executive, socioemotional, and behavioral functioning. History was notable for premature birth, chronic inflammation under evaluation for Sjögren’s syndrome, and tethered cord syndrome treated with spinal surgery. Results Testing revealed global cognitive impairment (FSIQ = 56), with consistently low performances across cognitive and academic domains. Slight relative strengths emerged in contextual visual memory and receptive language. Expressive difficulties and reduced comprehension of complex instructions significantly impacted task performance. Parent and teacher ratings revealed clinically significant inattention, learning problems, social withdrawal, and adaptive functioning. Facial morphology, fatigability, and motor slowing were consistent with phenotypes associated with chromosome 5 structural variation. Conclusion This case contributes to the limited literature on chromosome 5 inversions by outlining a detailed neuropsychological profile associated with this rare genetic variation and at the intersection of multiple genetic, developmental, and neurological factors.