Oral diadochokinetic markers of X-linked dystonia-parkinsonism

Tabitha H Kao¹, Hannah P Rowe², Jordan R Green³, Kaila L Stipancic⁴, Nutan Sharma⁵, Jan K de Guzman⁶, Melanie L Supnet-Wells⁷, Patrick Acuna⁸, Bridget J Perry⁹

Affiliations

¹ MGH Institute of Health Professions, 36 1st Ave, Charlestown Navy Yard, Boston, MA, 02129, United States. Electronic address: tkao@mghihp.edu.
² Department of Speech, Language, and Hearing Sciences, Boston University, 677 Beacon St, Boston, MA, 02215, United States. Electronic address: hprowe@bu.edu.
³ MGH Institute of Health Professions, 36 1st Ave, Charlestown Navy Yard, Boston, MA, 02129, United States. Electronic address: jgreen2@mghihp.edu.
⁴ Department of Communicative Disorders and Sciences, University at Buffalo, Buffalo, NY, 14214, United States. Electronic address: klstip@buffalo.edu.
⁵ Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, 02114, United States; The Collaborative Center for X-linked Dystonia-Parkinsonism, Massachusetts General Hospital, Charlestown, MA, 02129, United States. Electronic address: nsharma@partners.org.
⁶ Department of Neurology, Jose Reyes Memorial Medical Center, Manila, Metro Manila, 1012, Philippines; Sunshine Care Foundation, The Health Centrum, Roxas City, Capiz, 5800, Philippines. Electronic address: jekneuromd511@gmail.com.
⁷ Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, 02114, United States; The Collaborative Center for X-linked Dystonia-Parkinsonism, Massachusetts General Hospital, Charlestown, MA, 02129, United States. Electronic address: msupnet@mgh.harvard.edu.
⁸ Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, 02114, United States; The Collaborative Center for X-linked Dystonia-Parkinsonism, Massachusetts General Hospital, Charlestown, MA, 02129, United States. Electronic address: pacuna1@mgh.harvard.edu.
⁹ MGH Institute of Health Professions, 36 1st Ave, Charlestown Navy Yard, Boston, MA, 02129, United States. Electronic address: bjperry@mghihp.edu.

PMID: 38184995
PMCID: PMC10922526
DOI: 10.1016/j.parkreldis.2024.105991

Oral diadochokinetic markers of X-linked dystonia-parkinsonism

Tabitha H Kao et al. Parkinsonism Relat Disord. 2024 Mar.

. 2024 Mar:120:105991.

doi: 10.1016/j.parkreldis.2024.105991. Epub 2024 Jan 4.

Authors

Tabitha H Kao¹, Hannah P Rowe², Jordan R Green³, Kaila L Stipancic⁴, Nutan Sharma⁵, Jan K de Guzman⁶, Melanie L Supnet-Wells⁷, Patrick Acuna⁸, Bridget J Perry⁹

Affiliations

¹ MGH Institute of Health Professions, 36 1st Ave, Charlestown Navy Yard, Boston, MA, 02129, United States. Electronic address: tkao@mghihp.edu.
² Department of Speech, Language, and Hearing Sciences, Boston University, 677 Beacon St, Boston, MA, 02215, United States. Electronic address: hprowe@bu.edu.
³ MGH Institute of Health Professions, 36 1st Ave, Charlestown Navy Yard, Boston, MA, 02129, United States. Electronic address: jgreen2@mghihp.edu.
⁴ Department of Communicative Disorders and Sciences, University at Buffalo, Buffalo, NY, 14214, United States. Electronic address: klstip@buffalo.edu.
⁵ Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, 02114, United States; The Collaborative Center for X-linked Dystonia-Parkinsonism, Massachusetts General Hospital, Charlestown, MA, 02129, United States. Electronic address: nsharma@partners.org.
⁶ Department of Neurology, Jose Reyes Memorial Medical Center, Manila, Metro Manila, 1012, Philippines; Sunshine Care Foundation, The Health Centrum, Roxas City, Capiz, 5800, Philippines. Electronic address: jekneuromd511@gmail.com.
⁷ Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, 02114, United States; The Collaborative Center for X-linked Dystonia-Parkinsonism, Massachusetts General Hospital, Charlestown, MA, 02129, United States. Electronic address: msupnet@mgh.harvard.edu.
⁸ Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, 02114, United States; The Collaborative Center for X-linked Dystonia-Parkinsonism, Massachusetts General Hospital, Charlestown, MA, 02129, United States. Electronic address: pacuna1@mgh.harvard.edu.
⁹ MGH Institute of Health Professions, 36 1st Ave, Charlestown Navy Yard, Boston, MA, 02129, United States. Electronic address: bjperry@mghihp.edu.

PMID: 38184995
PMCID: PMC10922526
DOI: 10.1016/j.parkreldis.2024.105991

Abstract

Introduction: X-linked dystonia-parkinsonism (XDP) is a neurodegenerative disorder that may result in severe speech impairment. The literature suggests that there are differences in the speech of individuals with XDP and healthy controls. This study aims to examine the motor speech characteristics of the mixed dystonia-parkinsonism phase of XDP.

Method: We extracted acoustic features representing coordination, consistency, speed, precision, and rate from 26 individuals with XDP and 26 controls using Praat, MATLAB, and R software. Group demographics were compared using descriptive statistics. A one-way analysis of variance (ANOVA) with Tukey's post hoc test was used to test for acoustic differences between the two groups.

Results: The XDP group had significantly lower consistency, speed, precision, and rate than controls (p < 0.05). For coordination, the XDP group had a smaller ratio of pause duration during transitions when compared to controls.

Discussion: To our knowledge, this study is the first to describe the motor speech characteristics of the mixed dystonia-parkinsonism phase of XDP. The motor speech of mixed dystonia-parkinsonism XDP is similar to prior characterizations of mixed hyperkinetic-hypokinetic dysarthria with noted differences in articulatory coordination, consistency, speed, precision, and rate from healthy controls. Identifying the motor speech components of all three phenotypes of XDP (i.e., dystonia-dominant phase, parkinsonism-dominant phase, and mixed dystonia-parkinsonism phase) is needed to establish markers of speech impairment to track disease progression.

Keywords: Acoustic analysis; Mixed dystonia-parkinsonism phenotype; Motor speech; X-linked dystonia-parkinsonism (XDP).

PubMed Disclaimer

Conflict of interest statement

Declaration of competing interest This work was supported by the Massachusetts General Hospital Collaborative Center for X-linked Dystonia-Parkinsonism, Boston, MA; the National Institutes of Health (NIH)National Institute on Deafness and Other Communication Disorders [grant number K24DC0016312]; and the NIHNational Institute of Neurological Disorders and Stroke [grant number K23NS123369]. The funding sources did not participate in the study design; data collection, analysis, and interpretation; report writing; or decision to submit the article for publication. The authors declare that there are no conflicts of interest relevant to this work.

References

1. Lee LV, Maranon E, Demaisip C, Peralta O, Borres-Icasiano R, Arancillo J, Rivera C, Munoz E, Tan K, Reyes MT The natural history of sex-linked recessive dystonia parkinsonism of Panay, Philippines. Parkinsonism Relat. Disord 9 (2002) 29–38. 10.1016/s1353-8020(02)00042-1 - DOI - PubMed
1. Evidente VG, Gwinn-Hardy K, Hardy J, Hernandez D, Singleton A X-linked dystonia (“Lubag”) presenting predominantly with parkinsonism: A more benign phenotype? Mov. Disord 17 (2002) 200–202. 10.1002/mds.1263 - DOI - PubMed
1. Lee LV, Rivera C, Teleg RA, Dantes MB, Pasco PMD, Jamora RDG, Arancillo J, Villareal-Jordan RF, Rosales RL, Demaisip C, Maranon E, Peralta O, Borres R, Tolentino C, Monding MJ, Sarcia S The unique phenomenology of sex-linked dystonia parkinsonism (XDP, DYT3, “Lubag”). Int. J. Neurosci 121 (2011) 3–11. 10.3109/00207454.2010.526728 - DOI - PubMed
1. Zaninotto AL, de Guzman JK, Stipancic KL, Perry BJ, Supnet ML, Go C, Sharma N, Green JR Speech and swallowing deficits in X-linked dystonia-parkinsonism. Parkinsonism Relat. Disord 89 (2021) 105–110. 10.1016/j.parkreldis.2021.07.006 - DOI - PubMed
1. Rowe HP, Gutz SE, Maffei MF, Green JR Acoustic-based articulatory phenotypes of amyotrophic lateral sclerosis and Parkinson’s disease: towards an interpretable, hypothesis-driven framework of motor control. Interspeech. (2020) 4816–4820. 10.21437/Interspeech.2020-1459 - DOI

MeSH terms

Actions
Actions
Actions
Actions
Actions
Actions
Actions

Save citation to file

Email citation

Add to Collections

Add to My Bibliography

Your saved search

Create a file for external citation management software

Your RSS Feed

Oral diadochokinetic markers of X-linked dystonia-parkinsonism

Affiliations

Oral diadochokinetic markers of X-linked dystonia-parkinsonism

Authors

Affiliations

Abstract

Conflict of interest statement

References

MeSH terms

Supplementary concepts

Grants and funding

LinkOut - more resources

Full Text Sources

Medical