Auditory Dysfunction Among Individuals With Neurofibromatosis Type 1

Abstract

Key Points Question Is neurofibromatosis type 1 (NF1) associated with auditory neural dysfunction and functional hearing consequences? Findings In this case-control study of 44 individuals with NF1 and 44 matched control participants, 1 in 4 participants with NF1 showed evidence of auditory neural dysfunction, and 1 in 3 presented with abnormal functional hearing (speech perception). Diffusion-weighted magnetic resonance imaging analysis showed that participants with NF1 had significantly lower apparent fiber density within the ascending tracts of the brainstem. Meaning The findings of this study suggest that auditory dysfunction severe enough to impede developmental progress in children and restrict communication in older participants is a common neurobiological feature of NF1.

A randomized controlled trial of remote microphone listening devices to treat auditory deficits in children with neurofibromatosis type 1

“…Although characterized by cutaneous, skeletal, and neoplastic abnormalities [ 2 ], the most common complications are cognitive deficits and neurodevelopmental disorders including attention deficit hyperactivity disorder (ADHD; 40–50%) and autism spectrum disorder (ASD; 25%) [ 3 , 4 ]. In our recent study, a high proportion (32%) of NF1 participants also presented with significant functional hearing deficits associated with neural disruption between the cochlear nucleus and lateral lemniscus [ 5 ].…”

“…Experimental protocols were approved by the Royal Children’s Hospital (RCH) Ethics Committee (2019.010) and prospectively registered through the Australian/New Zealand Clinical Trials Registry (ACTRN12619000525189). Patients were recruited consecutively from the RCH Neurofibromatosis Clinic as part of a NF1-phenotype study [ 5 ].…”

“…Eleven of 24 children from our previous study [ 5 ] showed clinically abnormal functional hearing (speech perception-in-noise scores outside age-based norms) and 10 of these consented to participate in the device trial (Fig. 1A ).…”

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Fig. 1 A Binaural speech perception in noise scores for children with NF1 [ 5 ]. Shown are speech reception thresholds for the Listening in Spatialized Noise test (DV90 condition).

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Understanding nonliteral language abilities in children with neurofibromatosis type 1.

“…Difficulties with receptive language have also been reported in some studies (e.g., Hyman et al, 2005), but not others (Lehtonen et al, 2013). Neurodevelopmental comorbidities occur at a greater prevalence in children with NF1 relative to the general population, including specific learning disorders (>50%; Hyman et al, 2006), attention deficit hyperactivity disorder (ADHD, 30%–50%; Hyman et al, 2005; Lehtonen et al, 2013), autism spectrum disorder (ASD, 25%; Chisholm et al, 2018; Garg et al, 2013), as well as problems with central auditory processing (Rance et al, 2021).…”