Introduction: Auditory processing deficits are common in people with neurofibromatosis type 1 (NF1) and they often report difficulties in musical performance.
Objective: We investigated whether NF1 could be associated with amusia as well as with some impairment of primary auditory cortex activity.
Methods: Eighteen people with NF1 and 22 healthy volunteers, matched for age, sex and educational level, were evaluated with the Montreal Battery Evaluation of Amusia - short version. The integrity of cortical primary auditory processing areas was evaluated by evoked potential mismatch negativity.
Results: Amusia was correlated with NF1 (p = 0.001, odds ratio = 42.0, confidence interval 4.5-39.6). Patients with NF1 exhibited a greater prevalence of amusia than healthy controls (67% vs. 4.5%) and difficulties in both melodic and temporal music perception. Worse performance on the Montreal Battery Evaluation of Amusia was correlated with a greater mismatch negativity latency in NF1 group.
Conclusions: Amusia is a common feature in NF1 and may result from impairment of activity in primary auditory processing areas.