Abnormal speech motor control in individuals with 16p11.2 deletions
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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.
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Motor control of speech is impaired in 16p11.2 deletion carriers.
“Interestingly, motor control of speech is impaired in 16p11.2 deletion carriers [41], indicating that the motor and language deficits may be fundamentally linked.”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [41]
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- Authors
- Demopoulos, C., Kothare, H., Mizuiri, D., Henderson-Sabes, J., Fregeau, B., Tjernagel, J., Houde, J. F., Sherr, E. H., & Nagarajan, S. S.
- Affiliations
- University of California, San Francisco (US)
- Simons Foundation (US)
- Corresponding author
- Demopoulos, Carly
- Nagarajan, Srikantan S.
- ORCID
- Venue
- Scientific Reports
- Published
- 2018-01-19
- Volume
- 8
- Issue
- 1
- Pages
- 1274-1274
- ISSN
- 2045-2322 (ISSN-L)
- PMC
- PMC5775320
- OpenAlex
- W2953163029
- Cited by
- 42
- References
- 35
- Citations by year
- 2026: 2 · 2025: 1 · 2024: 5 · 2023: 6 · 2022: 6 · 2021: 7 · 2020: 7 · 2019: 2 · 2018: 6
- FWCI
- 7.20
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- Scientific Reports (publishedVersion, cc-by)
- bioRxiv (Cold Spring Harbor Laboratory) (acceptedVersion)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- eScholarship (California Digital Library) (submittedVersion, cc-by)
- Scholarly Commons (University of the Pacific) (submittedVersion, cc-by)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- Funders
- National Science Foundation (1262297)
- U.S. Department of Defense (W81XWH, W81XWH1310494, W81XWH-13)
- National Institutes of Health (W81XWH)
- National Institute on Deafness and Other Communication Disorders (R01DC010145, R01DC013979, R01DC004855)
- National Institute of Neurological Disorders and Stroke (R21NS076171, R01NS058721)
- Topics
- Social Sciences › Psychology › Experimental and Cognitive Psychology › Phonetics and Phonology Research
- Life Sciences › Neuroscience › Cognitive Neuroscience › Motor Control and Adaptation
- Health Sciences › Medicine › Physiology › Voice and Speech Disorders
- Keywords
- 16p11.2 deletion, speech motor control, auditory feedback, sensorimotor adaptation, phonation, speech and language disorders, developmental coordination disorder
- MeSH terms
- Adaptation, Physiological, Adolescent, Autistic Disorder, Child, Chromosome Deletion, Chromosomes, Human, Pair 16, Female, Humans, Male, Intellectual Disability, Speech, Voice, Chromosome Disorders
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