Research & Literature

Mosaic dominant TUBB4A mutation in an inbred family with complicated hereditary spastic paraplegia.

Kancheva D, Chamova T, Guergueltcheva V, et al.

Movement disorders : official journal of the Movement Disorder Society 2015; (30(6)):854-8 doi:10.1002/mds.26196.

Effects of Communication Partner Instruction on the Communication of Individuals using AAC: A Meta-Analysis.

Kent-Walsh J, Murza KA, Malani MD, Binger C

Augmentative and alternative communication (Baltimore, Md. : 1985) 2015; (31(4)):271-84 doi:10.3109/07434618.2015.1052153.

Supporting communication for patients with neurodegenerative disease.

Fried-Oken M, Mooney A, Peters B

NeuroRehabilitation 2015; (37(1)):69-87 doi:10.3233/NRE-151241.

The clinical syndrome of dystonia with anarthria/aphonia.

Ganos C, Crowe B, Stamelou M, et al.

Parkinsonism & related disorders 2016; (24()):20-7.

Screening Accuracy for Aspiration Using Bedside Water Swallow Tests: A Systematic Review and Meta-Analysis.

Brodsky MB, Suiter DM, González-Fernández M, et al.

Chest 2016; (150(1)):148-63.

Effect of Botulinum Toxin and Surgery among Spasmodic Dysphonia Patients.

van Esch BF, Wegner I, Stegeman I, Grolman W

Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery 2017; (156(2)):238-254 doi:10.1177/0194599816675320.

An open-label study of sodium oxybate in Spasmodic dysphonia.

Rumbach AF, Blitzer A, Frucht SJ, Simonyan K

The Laryngoscope 2017; (127(6)):1402-1407 doi:10.1002/lary.26381.

Communication Opportunities for Elementary School Students who use Augmentative and Alternative Communication.

Andzik NR, Chung YC, Kranak MP

Augmentative and alternative communication (Baltimore, Md. : 1985) 2016; (32(4)):272-281 doi:10.1080/07434618.2016.1241299.

Childhood Laryngeal Dystonia Following Bilateral Globus Pallidus Abnormality: A Case Study and Review of Literature.

Saeedi Borujeni MJ, Esfandiary E, Almasi-Dooghaee M

Iranian journal of otorhinolaryngology 2017; (29(90)):47-52.

A mutation in the Tubb4a gene leads to microtubule accumulation with hypomyelination and demyelination.

Duncan ID, Bugiani M, Radcliff AB, et al.

Annals of neurology 2017; (81(5)):690-702 doi:10.1002/ana.24930.

Spasmodic Dysphonia: A Review. Part 2: Characterization of Pathophysiology.

Hintze JM, Ludlow CL, Bansberg SF, et al.

Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery 2017; (157(4)):558-564 doi:10.1177/0194599817728465.

Spasmodic Dysphonia: A Review. Part 1: Pathogenic Factors.

Hintze JM, Ludlow CL, Bansberg SF, et al.

Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery 2017; (157(4)):551-557 doi:10.1177/0194599817728521.

Speech-Language Pathology Evaluation and Management of Hyperkinetic Disorders Affecting Speech and Swallowing Function.

Barkmeier-Kraemer JM, Clark HM

Tremor and other hyperkinetic movements (New York, N.Y.) 2017; (7()):489 doi:10.7916/D8Z32B30.

Dysphagia management in bilateral frontal opercular syndrome (Foix-Chavany-Marie syndrome).

Richards T, Hughes TT, Moss J, Lomax T

BMJ case reports 2017; (2017()) doi:10.1136/bcr-2017-222363.

Diagnosis and management of motor neurone disease.

Orrell RW

The Practitioner 2016; (260(1796)):17-21.

Dystonia-4 (DYT4)-associated TUBB4A mutants exhibit disorganized microtubule networks and inhibit neuronal process growth.

Watanabe N, Itakaoka M, Seki Y, et al.

Biochemical and biophysical research communications 2018; (495(1)):346-352 doi:10.1016/j.bbrc.2017.11.038.

Clinical Practice Guideline: Hoarseness (Dysphonia) (Update).

Stachler RJ, Francis DO, Schwartz SR, et al.

Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery 2018; (158(1_suppl)):S1-S42 doi:10.1177/0194599817751030.

Motor protein binding and mitochondrial transport are altered by pathogenic TUBB4A variants.

Vulinovic F, Krajka V, Hausrat TJ, et al.

Human mutation 2018; (39(12)):1901-1915 doi:10.1002/humu.23602.

Communication Matters-Pitfalls and Promise of Hightech Communication Devices in Palliative Care of Severely Physically Disabled Patients With Amyotrophic Lateral Sclerosis.

Linse K, Aust E, Joos M, Hermann A

Frontiers in neurology 2018; (9()):603 doi:10.3389/fneur.2018.00603.

Transfer Dysphagia Due to Focal Dystonia.

Samal P, Goyal V, Makharia GK, et al.

Journal of movement disorders 2018; (11(3)):129-132 doi:10.14802/jmd.17081.

Common practices in botulinum toxin injection for spasmodic dysphonia treatment: A national survey.

Shoffel-Havakuk H, Rosow DE, Lava CX, et al.

The Laryngoscope 2019; (129(7)):1650-1656 doi:10.1002/lary.27696.

Quality of Life After Botulinum Toxin Injection in Patients With Adductor Spasmodic Dysphonia; a Systematic Review and Meta-analysis.

Faham M, Ahmadi A, Silverman E, et al.

Journal of voice : official journal of the Voice Foundation 2021; (35(2)):271-283 doi:10.1016/j.jvoice.2019.07.025.

Respiratory Laryngeal Dystonia: Characterization and Diagnosis of a Rare Neurogenic Disorder.

Tierney WS, Bryson PC, Nelson R, et al.

The Laryngoscope 2020; (130(12)):2843-2846 doi:10.1002/lary.28559.

Pneumonia in Parkinson's disease: barium aspiration in videofluoroscopic swallowing study.

Chang KH, Tzeng YT, Wey JH, et al.

Respirology case reports 2020; (8(3)):e00546 doi:10.1002/rcr2.546.

Life Threatening Delayed Complication of Botulinum Toxin Injection for Treatment of Spasmodic Dysphonia.

Yershov D, Partridge R

Prague medical report 2020; (121(2)):114-117 doi:10.14712/23362936.2020.10.

DYT-TUBB4A (DYT4 Dystonia): New Clinical and Genetic Observations.

Bally JF, Camargos S, Oliveira Dos Santos C, et al.

Neurology 2021; (96(14)):e1887-e1897 doi:10.1212/WNL.0000000000010882.

Alternating Unilateral Versus Bilateral Injections of Botulinum Toxin for the Treatment of Adductor Spasmodic Dysphonia.

Lee SJ, Kang MS, Choi HS, Lim JY

Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery 2021; (164(4)):815-820 doi:10.1177/0194599820957608.

Whispering dysphonia in TUBB4A-related disorders responsive to bipallidal deep brain stimulation.

Delorme C, Roze E, Karachi C, et al.

European journal of neurology 2021; (28(3)):1082-1083 doi:10.1111/ene.14602.

Monogenic variants in dystonia: an exome-wide sequencing study.

Zech M, Jech R, Boesch S, et al.

The Lancet. Neurology 2020; (19(11)):908-918 doi:10.1016/S1474-4422(20)30312-4.

Coagulation of posterior cricoarytenoid muscles for abduction spasmodic dysphonia.

Samaha M, Remacle M

European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery 2021; (278(3)):839-841 doi:10.1007/s00405-020-06485-8.

Botulinum toxin injection into the intrinsic laryngeal muscles to treat spasmodic dysphonia: A multicenter, placebo-controlled, randomized, double-blinded, parallel-group comparison/open-label clinical trial.

Hyodo M, Nagao A, Asano K, et al.

European journal of neurology 2021; (28(5)):1548-1556 doi:10.1111/ene.14714.

Dysphagia: Evaluation and Collaborative Management.

Wilkinson JM, Codipilly DC, Wilfahrt RP

American family physician 2021; (103(2)):97-106.

Speech and language difficulties in Huntington's disease: A qualitative study of patients' and professional caregivers' experiences.

Grimstvedt TN, Miller JU, van Walsem MR, Feragen KJB

International journal of language & communication disorders 2021; (56(2)):330-345 doi:10.1111/1460-6984.12604.

Behavioral Therapy for Tremor or Dystonia Affecting Voice in Speakers with Hyperkinetic Dysarthria: A Systematic Review.

Lester-Smith RA, Miller CH, Cherney LR

Journal of voice : official journal of the Voice Foundation 2023; (37(4)):561-573 doi:10.1016/j.jvoice.2021.03.026.

Conversion disorder with aphonia in 12 years old male patient: A case report.

Al-Balas HI, Abuhalaweh M, Melhem HB, Al-Balas H

International journal of surgery case reports 2021; (84()):106135 doi:10.1016/j.ijscr.2021.106135.

Perceptions regarding communicative participation in individuals receiving botulinum toxin injections for laryngeal dystonia.

Yorkston K, Baylor CR, Eadie T, Kapsner-Smith M

International journal of language & communication disorders 2021; (56(6)):1296-1315 doi:10.1111/1460-6984.12668.

Post-treatment clinical course following botulinum toxin injection therapy for adductor spasmodic dysphonia: Analysis of data from a placebo-controlled, randomized, double-blinded clinical trial in Japan.

Hirose K, Asano K, Sakaguchi M, et al.

Laryngoscope investigative otolaryngology 2021; (6(5)):1088-1095 doi:10.1002/lio2.669.

Augmentative and Alternative Communication in an Elementary School Setting: A Case Study.

Walker VL, Chung YC

Language, speech, and hearing services in schools 2022; (53(1)):167-180 doi:10.1044/2021_LSHSS-21-00052.

In-silico phenotype prediction by normal mode variant analysis in TUBB4A-related disease.

Fellner A, Goldberg Y, Lev D, et al.

Scientific reports 2022; (12(1)):58 doi:10.1038/s41598-021-04337-x.

The BCH message banking process™, voice banking, and double-dipping™.

Costello J, Smith M

Augmentative and alternative communication (Baltimore, Md. : 1985) 2021; (37(4)):241-250 doi:10.1080/07434618.2021.2021554.

Online Training to Improve Service Provider Implementation of Letter-Sound Correspondence Instruction for Individuals Who Use Augmentative and Alternative Communication.

Caron JG, O'Brien M, Weintraub R

American journal of speech-language pathology 2022; (31(3)):1114-1132 doi:10.1044/2022_AJSLP-21-00142.

Impact of COVID-19 on Patient-Provider Communication in Critical Care: Case Reports.

Scibilia SJ, Gendreau SK, Towbin RT, Happ MB

Critical care nurse 2022; (42(4)):38-46 doi:10.4037/ccn2022405.

Spasmodic dysphonia: An overview of clinical features and treatment options.

Sanuki T

Auris, nasus, larynx 2023; (50(1)):17-22 doi:10.1016/j.anl.2022.05.012.

DYT-TUBB4A (DYT4 Dystonia): Clinical Anthology of 11 Cases and Systematized Review.

Bally JF, Kern DS, Fearon C, et al.

Movement disorders clinical practice 2022; (9(5)):659-675 doi:10.1002/mdc3.13452.

A trained communication partner's use of responsive strategies in aided communication with three adults with Rett syndrome: A case report.

Wandin H, Lindberg P, Sonnander K

Frontiers in psychology 2022; (13()):989319 doi:10.3389/fpsyg.2022.989319.

A recent survey of augmentative and alternative communication use and service delivery experiences of people with amyotrophic lateral sclerosis in the United States.

Peters B, O'Brien K, Fried-Oken M

Disability and rehabilitation. Assistive technology 2024; (19(4)):1121-1134 doi:10.1080/17483107.2022.2149866.

Demands Associated With an Augmentative and Alternative Communication System in Relation to Alternative Forms of Access for Individuals With Motor Impairments.

Sowers DJ, Wilkinson KM

American journal of speech-language pathology 2023; (32(1)):37-54 doi:10.1044/2022_AJSLP-22-00006.

Voice banking to support individuals who use speech-generating devices: development and evaluation of Singaporean-accented English synthetic voices and a Singapore Colloquial English recording inventory.

Chen M, Hyppa-Martin J, Bunnell HT, et al.

Augmentative and alternative communication (Baltimore, Md. : 1985) 2023; (39(4)):208-218 doi:10.1080/07434618.2023.2181213.

Effects of Aided Communication on Communicative Participation for People With Amyotrophic Lateral Sclerosis.

Peters B, Wiedrick J, Baylor C

American journal of speech-language pathology 2023; (32(4)):1450-1465 doi:10.1044/2023_AJSLP-22-00346.

Improved vocal quality and decreased vocal effort after botulinum toxin treatment for laryngeal dystonia.

Leung JS, Rosenbaum A, Holmberg J, et al.

Auris, nasus, larynx 2024; (51(1)):106-112 doi:10.1016/j.anl.2023.06.004.

Identifying Implementation Strategies to Increase Augmentative and Alternative Communication Adoption in Early Childhood Classrooms: A Qualitative Study.

Quinn ED, Kurin K, Atkins KL, Cook A

Language, speech, and hearing services in schools 2023; (54(4)):1136-1154 doi:10.1044/2023_LSHSS-22-00186.

Laryngeal dystonia: Phenomenology, genetics, and management.

Blitzer A, Kohli N

Toxicon : official journal of the International Society on Toxinology 2023; (233()):107258 doi:10.1016/j.toxicon.2023.107258.

Accumulated Secretions and Associated Aerodigestive Function in Patients With Dysphagia.

Hunting A, Steffanoni B, Jacques A, Miles A

American journal of speech-language pathology 2023; (32(6)):2691-2702 doi:10.1044/2023_AJSLP-23-00118.

A large-scale comparison of two voice synthesis techniques on intelligibility, naturalness, preferences, and attitudes toward voices banked by individuals with amyotrophic lateral sclerosis.

Hyppa-Martin J, Lilley J, Chen M, et al.

Augmentative and alternative communication (Baltimore, Md. : 1985) 2024; (40(1)):31-45 doi:10.1080/07434618.2023.2262032.

Incidence and risk factors for secondary extralaryngeal dystonia in patients with laryngeal dystonia.

Dupuch G, Mailly M, Guillaume J, et al.

American journal of otolaryngology 2024; (45(1)):104090 doi:10.1016/j.amjoto.2023.104090.

Emergency and Disaster Preparedness for Individuals Who Use Augmentative and Alternative Communication: A Pilot Study on Supported Planning Using a Toolkit.

Barton-Hulsey A, Boesch MC, Chung Y, et al.

American journal of speech-language pathology 2024; (33(1)):16-32 doi:10.1044/2023_AJSLP-23-00086.

Comparison of the efficacy and adverse effects of unilateral or bilateral botulinum toxin injections for adductor spasmodic dysphonia: a systematic review and meta-analysis.

Liu Y, Chen F, Liang F, et al.

European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery 2024; (281(3)):1357-1369 doi:10.1007/s00405-023-08366-2.

The role of genetics in the treatment of dystonia with deep brain stimulation: Systematic review and Meta-analysis.

Sarva H, Rodriguez-Porcel F, Rivera F, et al.

Journal of the neurological sciences 2024; (459()):122970 doi:10.1016/j.jns.2024.122970.

Communication in critical care tracheostomy patients dependent upon cuff inflation: A scoping review.

McClintock C, McAuley DF, McIlmurray L, et al.

Australian critical care : official journal of the Confederation of Australian Critical Care Nurses 2024; (37(6)):971-984 doi:10.1016/j.aucc.2024.02.009.

Expanding the phenotypic and genotypic spectrum of DYT-TUBB4A with seven patients from India.

Garg D, Holla VV, Ganguly J, et al.

Parkinsonism & related disorders 2024; (124()):107012 doi:10.1016/j.parkreldis.2024.107012.

Environmental factors contributing to using spelling in communication: Perceptions of literate aided communicators.

Finak P, Aldersey HM, Smith MM, Batorowicz B

Augmentative and alternative communication (Baltimore, Md. : 1985) 2025; (41(4)):355-368 doi:10.1080/07434618.2024.2359936.

Effects of an 11-week vibro-tactile stimulation treatment on voice symptoms in laryngeal dystonia.

Konczak J, Bhaskaran D, Elangovan N, et al.

Frontiers in neurology 2024; (15()):1403050 doi:10.3389/fneur.2024.1403050.

Teachers' use of augmented input and responsive strategies in schools for students with intellectual disability: A multiple case study of a communication partner intervention.

Wallin S, Thunberg G, Hemmingsson H, Wilder J

Autism & developmental language impairments 2024; (9()):23969415241290419 doi:10.1177/23969415241290419.

Efficacy and Safety of Sodium Oxybate in Isolated Focal Laryngeal Dystonia: A Phase IIb Double-Blind Placebo-Controlled Cross-Over Randomized Clinical Trial.

Simonyan K, O'Flynn LC, Hamzehei Sichani A, et al.

Annals of neurology 2025; (97(2)):329-343 doi:10.1002/ana.27121.

Exploring core competencies for language facilitation in parent training programs in AAC.

Soto G, Vega J

Disability and rehabilitation. Assistive technology 2025; (20(4)):1035-1043 doi:10.1080/17483107.2024.2429687.

Haloperidol-Induced Laryngeal Dystonia: A Case Report on an Antipsychotic-Associated Airway Emergency.

Guani LE, Arshoun A, Murdock AS, Espiridion ED

Cureus 2024; (16(11)):e74761 doi:10.7759/cureus.74761.

The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy.

Gavazzi F, Charsar B, Hamilton E, et al.

Molecular genetics and metabolism 2025; (144(3)):109048 doi:10.1016/j.ymgme.2025.109048.

Impact of communication modalities on autonomy and social participation of persons with locked-in syndrome.

Rousseau MC, Hautin M, Blandin V, et al.

Brain impairment : a multidisciplinary journal of the Australian Society for the Study of Brain Impairment 2025; (26()) doi:10.1071/IB24030.

Clinical Presentation of KMT2B-Related Dystonia: A Case Report.

Onoprishvili E, Khelaia L, Bedoshvili A, et al.

Cureus 2025; (17(3)):e81454 doi:10.7759/cureus.81454.

Definition and Classification of Dystonia.

Albanese A, Bhatia KP, Fung VSC, et al.

Movement disorders : official journal of the Movement Disorder Society 2025; (40(7)):1248-1259 doi:10.1002/mds.30220.

Overcoming barriers to literacy for individuals who need or use AAC: lived experiences, key research findings, and future directions.

Light J, Holyfield C, McNaughton D, et al.

Augmentative and alternative communication (Baltimore, Md. : 1985) 2025; (41(3)):283-294 doi:10.1080/07434618.2025.2502032.

Esophageal and Oropharyngeal Dysphagia: Clinical Recommendations From the United European Gastroenterology and European Society for Neurogastroenterology and Motility.

Mari A, Calabrese F, Pasta A, et al.

United European gastroenterology journal 2025; (13(6)):855-901 doi:10.1002/ueg2.70062.

"It's a Lot of Collaboration": Related Service Providers Supporting Literacy Instruction for Learners Who Use Augmentative and Alternative Communication.

Caron JG, Babb S, Stokes H, et al.

Language, speech, and hearing services in schools 2025; (56(4)):970-985 doi:10.1044/2025_LSHSS-24-00034.

Laryngeal Vibration to Treat Abductor-Type Laryngeal Dystonia: Effectiveness and Cortical Response.

Mahnan A, Xu J, Oh J, et al.

The Laryngoscope 2026; (136(1)):368-376 doi:10.1002/lary.70020.

Long-Term Daytime Use of Sodium Oxybate in Laryngeal Dystonia: A Follow-Up Online Survey Study.

O'Flynn LC, Simonyan K

The Laryngoscope 2026; (136(1)):319-323 doi:10.1002/lary.70054.

Generalized dystonia unraveled: Molecular mechanisms, diagnostic strategies, and treatment paradigms.

Yarahmadi F, Shoiebi A, Shariati M, et al.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2025; (46(11)):5657-5669 doi:10.1007/s10072-025-08404-3.

Usability and Feasibility of In-home Vibro-Tactile Stimulation for Treating Voice Symptoms in Laryngeal Dystonia.

Amini S, Elangovan N, Özkul C, Konczak J

Journal of voice : official journal of the Voice Foundation 2025; doi:10.1016/j.jvoice.2025.08.012.

"Take me seriously, talk to me, ask me questions, and listen when I speak". An empirical analysis of experiences with AAC in young adults' educational and social interactions.

Sønsthagen S, Brustad LK

Augmentative and alternative communication (Baltimore, Md. : 1985) 2025; 1-12 doi:10.1080/07434618.2025.2558850.

Exploring Voice Banking as an Alternative Augmentative Communication Strategy for Individuals with Dysphonia, Aphonia, and Dysarthria: A Scoping Review.

Pu S, Sawyer A, Levinson C, et al.

Journal of voice : official journal of the Voice Foundation 2025; doi:10.1016/j.jvoice.2025.10.018.

Stage-Based Communication Rehabilitation in Amyotrophic Lateral Sclerosis (ALS): A Review of Strategies for Enhancing Quality of Life.

Jackson MC, Azarraga RB, Fraix MP, Agrawal DK

Archives of internal medicine research 2025; (8(4)):359-371 doi:10.26502/aimr.0230.

Assessment of Different Outcome Measures for the Diagnosis of Laryngeal Dystonia.

Kurz A, Leonhard M, Ho GY, et al.

Journal of voice : official journal of the Voice Foundation 2026; doi:10.1016/j.jvoice.2025.12.025.

Timing of communication and technology control support in ALS - a systematic review.

Judge S, Ballesteros K, McDermott CJ, Bloch S

Amyotrophic lateral sclerosis & frontotemporal degeneration 2026; (27(5-6)):504-512 doi:10.1080/21678421.2026.2627899.

KMT2B-related disorders in Austria: clinical features and long-term outcome after deep brain stimulation.

Indelicato E, Siegert S, Langer A, et al.

Frontiers in neurology 2026; (17()):1727854 doi:10.3389/fneur.2026.1727854.

Clinical Profile of Outpatients Undergoing Swallowing Evaluation and Its Association with Pneumonia History: A Videofluoroscopic Study.

Söyler AK, Demir N, Arslan SS, et al.

Journal of clinical medicine 2026; (15(8)) doi:10.3390/jcm15082990.

Acute Laryngeal Dystonia Mimicking Anaphylaxis Following Antipsychotic Initiation: A Case Report.

Wadhwa D

Case reports in psychiatry 2026; (2026()):9856544 doi:10.1155/crps/9856544.

Genetic Etiologies of Dystonia with Anarthria/Aphonia.

Ménétrey A, Rayco E, Abarghouei ME, et al.

Movement disorders clinical practice 2026; doi:10.1002/mdc3.70841.