A – 47 Non-Inherited Neurofibromatosis Type 1 and Comorbid Attention-Deficit/Hyperactivity Disorder (ADHD): A Longitudinal Neuropsychological Profile from Childhood to Early Adulthood

Abstract Objective Neurocognitive deficits are well-documented in individuals with neurofibromatosis type 1 (NF1). However, limited longitudinal research exists on cognitive trajectories from childhood into adulthood. We present a patient diagnosed with NF1 at birth (sporadic) and comorbid ADHD, who underwent neuropsychological evaluations at ages 6, 13, and 22. Method Patient is a 22-year-old, right-handed, Asian male with 14 years of education, presenting for re-evaluation due to occupational difficulties. Diagnoses include ADHD (age 6) and mild cognitive impairment (age 13). He underwent bilateral wrist orthopedic surgery at age 17 due to neurofibromas. Infant MRI showed pontine abnormalities; MRI at age 13 revealed no intracranial mass or classic NF1 stigmata but noted neurofibromas in the scalp and neck. Neuropsychological performance was compared across time points. Results Full-scale IQ remains below average yet stable. Working memory and processing speed shows decline from age 13 to 22, with more significant decline from age 6 to 13. Motor speed is impaired with significant decline over time. Executive functioning (EF) remains variably impaired across evaluations. Language remains stable, with a relative decline in verbal fluency. Learning and memory are intact with modest improvement in verbal memory. Visuospatial and constructional abilities remain consistent with intellectual functioning. Most recent evaluation reflects self-report of clinically elevated anxiety symptoms. Conclusion Attention and EF impairments persist from childhood into adulthood in NF1. Significant cognitive decline appears to occur during puberty which stabilizes into early adulthood, suggesting aggressive cognitive and emotional intervention is crucial during puberty for improving functional outcomes in adulthood.