Abnormal Speech Motor Control in Individuals with 16p11.2 Deletions

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.

Male‐specific alterations in structure of isolation call sequences of mouse pups with 16p11.2 deletion

“…16p11.2 deletion syndrome, a disorder caused by deletion of ~27 genes on chromosome 16 at the p11.2 location, causes intellectual disability, developmental delay and many features of ASDs. Humans carrying the 16p11 deletion have impaired communication and socialization skills, as well as delayed development of speech and language 19‐21,36‐38 . Our findings of altered sequencing in mouse PICs strengthen the 16p11.2del mouse model and provide scope for further investigations to understand the circuit and molecular level manifestations of the disorder which lead to vocalization impairment associated with the disorder.…”

A Simple 3-Parameter Model for Examining Adaptation in Speech and Voice Production

“…been used to assess speech motor control of individuals with Parkinson's disease (PD;Mollaei et al, 2013;Abur et al, 2018), hyperfunctional voice disorder (Stepp et al, 2017), cerebellar degeneration (Parrell et al, 2017), apraxia of speech (Ballard et al, 2018), autism (Demopoulos et al, 2018), developmental dyslexia (van den Bunt et al, 2017), and stuttering . The findings of these studies have important implications for uncovering the underlying neural mechanisms of these disorders and may shed light on future treatment strategies.…”

A Controller with an Extended State Observer in Aerial Camera Position-angle System

“…Also, direct-current motors can adjust speed smoothly and economically in a wide range. So, direct-current motors have been widely used in the field of control [6].…”

“…After Laplace transformation, the transfer function of a direct-current torque motor can be obtained as Equation (6). K W(s) = U(s) LJs + RJs + K K (6) To identify aerial camera position-angle system. Sinusoidal signals with amplitude equal to 2000 and frequencies ranging from 0.1Hz to 50Hz is input, and the amplitude of the output response is obtained.…”