Abstract

Speech and motor deficits are highly prevalent (>70%) in individuals with the 600 kb BP4-BP5 16p11.2 deletion; however, the mechanisms that drive these deficits are unclear, limiting our ability to target interventions and advance treatment. This study examined fundamental aspects of speech motor control in participants with the 16p11.2 deletion. To assess capacity for control of voice, we examined how accurately and quickly subjects changed the pitch of their voice within a trial to correct for a transient perturbation of the pitch of their auditory feedback. When compared to controls, 16p11.2 deletion carriers show an over-exaggerated pitch compensation response to unpredictable mid-vocalization pitch perturbations. We also examined sensorimotor adaptation of speech by assessing how subjects learned to adapt their sustained productions of formants (speech spectral peak frequencies important for vowel identity), in response to consistent changes in their auditory feedback during vowel production. Deletion carriers show reduced sensorimotor adaptation to sustained vowel identity changes in auditory feedback. These results together suggest that 16p11.2 deletion carriers have fundamental impairments in the basic mechanisms of speech motor control and these impairments may partially explain the deficits in speech and language in these individuals.

Highlights

  • Speech and communication deficits can have a pervasive impact on learning, development, and quality of life and are highly prevalent in individuals with Autism Spectrum Disorders (ASD)[1,2]

  • Of the vocal apparatus to achieve that intended outcome, and (3) the ability to accurately process and respond to auditory feedback of one’s own speech in real time[15]. How these specific fundamental processes of speech motor control are impacted in children with ASD and the 16p11.2 deletion is poorly understood; prior studies examining low level speech motor control in children with apraxia of speech and other speech sound disorders suggest that these speech disorders may result from impairment in internal speech modeling, requiring a compensatory increased reliance on auditory feedback for speech production[16,17,18,19]

  • The pitch perturbation reflex measures how speakers immediately react to auditory feedback for online speech error monitoring and correction

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Summary

Introduction

Speech and communication deficits can have a pervasive impact on learning, development, and quality of life and are highly prevalent in individuals with Autism Spectrum Disorders (ASD)[1,2]. Of the vocal apparatus to achieve that intended outcome (vocal motor control), and (3) the ability to accurately process and respond to auditory feedback of one’s own speech in real time (online speech error monitoring)[15] How these specific fundamental processes of speech motor control are impacted in children with ASD and the 16p11.2 deletion is poorly understood; prior studies examining low level speech motor control in children with apraxia of speech and other speech sound disorders suggest that these speech disorders may result from impairment in internal speech modeling, requiring a compensatory increased reliance on auditory feedback for speech production[16,17,18,19]. Both the pitch perturbation reflex and speech sensorimotor adaptation response have proven to be sensitive indicators of abnormal speech feedback processing in other neurological conditions[23,24,25], and were natural choices for assessing feedback processing in our participants

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