Prevalence Estimates For Three Types of Motor Speech Disorders In Complex Neurodevelopmental Disorders (CND) Lawrence D. Shriberg a Edythe A. Strand b.

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Presentation transcript:

Prevalence Estimates For Three Types of Motor Speech Disorders In Complex Neurodevelopmental Disorders (CND) Lawrence D. Shriberg a Edythe A. Strand b Heather L. Mabie a a Waisman Center University of Wisconsin-Madison b Department of Neurology Mayo Clinic-Rochester Eighteenth Biennial Conference on Motor Speech Motor Speech Disorders & Speech Motor Control Newport Beach, CA, March 6, 2016

Marios Fourakis Christie Tilkens Sheryl Hall Emily White Heather Karlsson David Wilson Jane McSweeny Erin Wilson Alison Scheer-Cohen Collaborators Leonard Abedutto Adriane Baylis Raphael Bernier Richard Boada Steve Camarata Thomas Campbell Simon Fisher Jordan Green Jeffrey Gruen Kathy Jakielski This research is supported by the National Institute on Deafness and Other Communication Disorders [DC00496] and a core grant to the Waisman Center from the National Institute of Child Health and Development [HD03352]. L. Shriberg, E. Strand, and H. Mabie have no financial or non-financial relationships to disclose. Barbara Lewis Christopher Moore Katharine Odell Bruce Pennington Nancy Potter Erin Redle Heather Rusiewicz Shelley Smith Jennifer Vannest Yvonne Wren Waisman Center Phonology Project University of Wisconsin-Madison / Acknowledgments

Statement of Purpose  Advances in the neurogenetics, treatment, and prevention of pediatric speech sound disorders require a nosology that cross-classifies a speaker’s descriptive linguistic and motor speech status.  Extensions to the finalized version of the Speech Disorders Classification System (SDCS) address this need.  We summarize constructs, measures and prevalence estimates for three types of pediatric motor speech disorders in complex neurodevelopmental contexts. Purpose Participants FindingsConclusions SDCS

III. Clinical Typology (Behavioral Phenotype) Speech Delay (SD) Speech Delay - Developmental Psychosocial Involvement (SD-DPI) Speech Delay- Otitis Media With Effusion (SD-OME) Motor Speech Disorder- Apraxia Of Speech (MSD-AOS) Speech Delay- Genetic (SD-GEN) Speech Errors (SE) Motor Speech Disorder (MSD) Speech Errors - /s/ (SE-/s/) Motor Speech Disorder - Not Otherwise Specified (MSD-NOS) Speech Errors - /r/ (SE-/r/) Motor Speech Disorder- Dysarthria (MSD-DYS) IV. Diagnostic Markers (Criterial Signs of Phenotype) I. Etiological Processes (Distal Causes) Genomic and Environmental Risk and Protective Factors Neurodevelopmental Substrates II. Speech Processes (Proximal Causes) Representation Auditory Somatosensory Transcoding Planning Programming Execution Feedforward Feedback a Shriberg, L. D. (February, 2013). State of the Art in CAS Diagnostic Marker Research. Review paper presented at the Childhood Apraxia of Speech Association of North America Speech Research Symposium, Atlanta, GA. Speech Disorders Classification System (SDCS) a Purpose Participants FindingsConclusions SDCS

III. Clinical Typology (Behavioral Phenotype) Speech Delay (SD) Speech Delay - Developmental Psychosocial Involvement (SD-DPI) Speech Delay- Otitis Media With Effusion (SD-OME) Motor Speech Disorder- Apraxia Of Speech (MSD-AOS) Speech Delay- Genetic (SD-GEN) Speech Errors (SE) Motor Speech Disorder (MSD) Speech Errors - /s/ (SE-/s/) Motor Speech Disorder - Not Otherwise Specified (MSD-NOS) Speech Errors - /r/ (SE-/r/) Motor Speech Disorder- Dysarthria (MSD-DYS) IV. Diagnostic Markers (Criterial Signs of Phenotype) I. Etiological Processes (Distal Causes) Genomic and Environmental Risk and Protective Factors Neurodevelopmental Substrates II. Speech Processes (Proximal Causes) Representation Auditory Somatosensory Transcoding Planning Programming Execution Feedforward Feedback Linear Representation of Speech and Motor Speech Classifications a Shriberg, L. D. (February, 2013). State of the Art in CAS Diagnostic Marker Research. Review paper presented at the Childhood Apraxia of Speech Association of North America Speech Research Symposium, Atlanta, GA. Purpose Participants FindingsConclusions SDCS

Purpose Participants FindingsConclusions SDCS Cross-Classification (Matrix) Representation of Speech and Motor Speech Classifications

Purpose Participants FindingsConclusions SDCS Cross-Classification (Matrix) Representation of Speech and Motor Speech Classifications

Purpose Participants FindingsConclusions SDCS Cross-Classification (Matrix) Representation of Speech and Motor Speech Classifications

Purpose Participants FindingsConclusions SDCS Cross-Classification of Speech and Motor Speech Disorders: Individual Participant PT03

Purpose Participants FindingsConclusions SDCS Cross-Classification of Speech and Motor Speech Disorders: Group a a Wilson, E. M., Abbeduto, L., Camarata, S. M., & Shriberg, L. D. (2016). Prevalence of speech and motor speech disorders and intelligibility correlates in persons with Down syndrome. Manuscript in preparation. Down syndrome (n=50)

 Conversational speech task  Syllable Repetition Task (Shriberg & Lohmeier, 2008)  Data reduction  Narrow phonetic transcription  Prosody-voice coding  Acoustic analyses  Data analyses  PEPPER (Shriberg, Allen, McSweeny, & Wilson, 2001) Purpose Participants FindingsConclusions SDCS Assessment

Purpose Participants FindingsConclusions SDCS Standardized Measures of Motor Speech Disorders

 CND Groups  391 participants: 16p11.2, 22q11.2, ASD, CAS, DS, FXS, GALT, IID, TBI  Typical-speaking Reference Groups  150 participants, 3-18 years of age  50 participants, years of age  Comparison Groups  180 participants, 3-5 years of age, Idiopathic SSD  22 participants, years of age, AAS (stroke and PPAOS subgroups) Purpose Participants FindingsConclusions SDCS Participants a a 16p11.2: 16p11.2 microdeletion syndrome; 22q11.2: 22q11.2 deletion syndrome; AAS: Adult-onset Apraxia of Speech; ASD: Autism Spectrum Disorder; CAS: Childhood Apraxia of Speech; DS: Down syndrome; FXS: Fragile X syndrome; GALT: Galactosemia; IID: Idiopathic Intellectual Disability; PPAOS: Primary Progressive Apraxia of Speech; SSD: Speech Sound Disorders; TBI: Traumatic Brain Injury

 8% in children with Idiopathic SD  27% in 4 CND with high prevalence of MSD 19% in 3 CND with low prevalence of MSD  The persistent MSD phenotype in some speakers with prior CAS Purpose Participants FindingsConclusions SDCS MSD-NOS Prevalence Estimates

Purpose Participants FindingsConclusions SDCS MSD-NOS Prevalence Estimates: In Idiopathic SD

 8% in children with SD  27% in 4 CND with high prevalence of MSD 19% in 3 CND with low prevalence of MSD  The persistent MSD phenotype in some speakers with prior CAS Purpose Participants FindingsConclusions SDCS MSD-NOS Prevalence Estimates

Percentage of Participants NOS in 4 CND with High Prevalence of MSD: 22.6% – 33.3% 22q11.2 Deletion (n=18) NOSDYS CAS DYS & CAS Down syndrome (n=50) NOSDYS CAS DYS & CAS Fragile X Syndrome (n=30) NOSDYS CAS DYS & CAS Galactosemia (n=31) NOSDYS CAS DYS & CAS Purpose Participants FindingsConclusions SDCS MSD-NOS Prevalence Estimates: In CND

Percentage of Participants NOS in 4 CND with High Prevalence of MSD: 22.6% – 33.3% 22q11.2 Deletion (n=18) NOSDYS CAS DYS & CAS Down syndrome (n=50) NOSDYS CAS DYS & CAS Fragile X Syndrome (n=30) NOSDYS CAS DYS & CAS Galactosemia (n=31) NOSDYS CAS DYS & CAS Purpose Participants FindingsConclusions SDCS MSD-NOS Prevalence Estimates: In CND

Percentage of Participants NOS in 3 CND with Low Prevalence of MSD: 9.1% – 25.2% Traumatic Brain Injury (n=55) NOSDYS CAS DYS & CAS Purpose Participants FindingsConclusions SDCS Autism Spectrum Disorder (n=42) NOSDYS CAS DYS & CAS 16p11.2 Deletion (n=111) NOSDYS CAS DYS & CAS MSD-NOS Prevalence Estimates: In CND

Percentage of Participants NOS in 3 CND with Low Prevalence of MSD: 9.1% – 25.2% Traumatic Brain Injury (n=55) NOSDYS CAS DYS & CAS Purpose Participants FindingsConclusions SDCS Autism Spectrum Disorder (n=42) NOSDYS CAS DYS & CAS 16p11.2 Deletion (n=111) NOSDYS CAS DYS & CAS MSD-NOS Prevalence Estimates: In CND

 8% in children with SD  27% in 4 CND with high prevalence of MSD 19% in 3 CND with low prevalence of MSD  The persistent MSD phenotype in some speakers with prior CAS Purpose Participants FindingsConclusions SDCS MSD-NOS Prevalence Estimates

Purpose Participants FindingsConclusions SDCS Patient 2 a a Rice, G. M., Raca, G., Jakielski, K. J., Laffin, J. J., Iyama-Kurtycz, C., Hartley, S. L... Shriberg, L. D. (2012). Phenotype of FOXP2 haploinsufficiency in a mother and son. American Journal of Medical Genetics: Part A, 158A, MSD-NOS Prevalence Estimates: In Some Speakers with Prior CAS

 0% - 30% CAS or DYS & CAS in 8 CND  DYS & CAS more prevalent than CAS  in idiopathic CAS  in stroke and PPAOS forms of AAS  in several FOXP2 case studies Purpose Participants FindingsConclusions SDCS MSD-CAS & MSD-DYS & CAS Prevalence Estimates

Purpose Participants FindingsConclusions SDCS DS (n=50) GALT (n=31) 22q (n=18) IID (n=26) TBI (n=55) FXS (n=30) 16p (n=111) ASD (n=42) CAS in Eight Complex Neurodevelopmental Disorders MSD-CAS & MSD-DYS & CAS Prevalence Estimates

 0% - 30% CAS or DYS & CAS in 8 CND  DYS & CAS more prevalent than CAS  in idiopathic CAS  in stroke and PPAOS forms of AAS  in several FOXP2 case studies Purpose Participants FindingsConclusions SDCS MSD-CAS & MSD-DYS & CAS Prevalence Estimates

Purpose Participants FindingsConclusions SDCS Neurogenetic (n=12) CASAAS Idiopathic (n=16) Stroke (n=10) PPAOS (n=12) MSD-CAS & MSD-DYS & CAS Prevalence Estimates

 0% to 39% CAS or DYS & CAS in 9 CND  DYS & CAS more prevalent than CAS  in idiopathic CAS  in stroke and PPAOS forms of AAS  in several FOXP2 case studies Purpose Participants FindingsConclusions SDCS MSD-CAS & MSD-DYS & CAS Prevalence Estimates

Purpose Participants FindingsConclusions SDCS Participant B (Shriberg et al., 2006; Tomblin et al., 2009) MSD-CAS & MSD-DYS & CAS Prevalence Estimates

Purpose Participants FindingsConclusions SDCS Participant T (Shriberg et al., 2006; Tomblin et al., 2009) MSD-CAS & MSD-DYS & CAS Prevalence Estimates

 0% - 60% DYS or DYS & CAS in 8 CND  DYS more prevalent than DYS & CAS in 7 CND  Ataxic DYS most prevalent of the five dysarthria subtypes in CAS, AAS, DS, and FXS Purpose Participants FindingsConclusions SDCS MSD-DYS & MSD-DYS & CAS Prevalence Estimates

Purpose Participants FindingsConclusions SDCS DS (n=50) GALT (n=31) 22q (n=18) IID (n=26) TBI (n=55) FXS (n=30) 16p (n=111) ASD (n=42) DYS in Eight Complex Neurodevelopmental Disorders MSD-DYS & MSD-DYS & CAS Prevalence Estimates

 0% to 60% DYS or DYS & CAS in 8 CND  DYS more prevalent than DYS & CAS in 7 CND  Ataxic DYS most prevalent of the five dysarthria subtypes in CAS, AAS, DS, and FXS Purpose Participants FindingsConclusions SDCS MSD-DYS & MSD-DYS & CAS Prevalence Estimates

Purpose Participants FindingsConclusions SDCS MSD-DYS & MSD-DYS & CAS Prevalence Estimates for Subtypes of Dysarthria

 One or more of three motor speech disorders (NOS, DYS, CAS) had substantial prevalence in the present samples of participants with complex neurodevelopmental disorders, and in participants with idiopathic Speech Delay.  NOS provides a useful classification entity for research and clinical applications.  CAS & DYS was more prevalent than CAS only, with implications for dimensional versus categorical nosologies in pediatric motor speech disorders.  Cross-classification of speech and motor speech disorders should provide informative phenotypes for explanatory, treatment, and preventive research. Summary and Conclusions Purpose Participants FindingsConclusions SDCS

References Duffy, J. R. (2013). Motor speech disorders: Substrates, differential diagnosis, and management (3rd ed.). St. Louis, MO: Mosby. Mabie, H. L., & Shriberg, L. D. (2016). Reference data for competence, precision, and stability indices of motor speech disorders. Technical Report in preparation. (Tech. Rep. No. 23). Phonology Project, Waisman Center, University of Wisconsin-Madison. Rice, G. M., Raca, G., Jakielski, K. J., Laffin, J. J., Iyama-Kurtycz, C., Hartley, S. L... Shriberg, L. D. (2012). Phenotype of FOXP2 haploinsufficiency in a mother and son. American Journal of Medical Genetics: Part A, 158A, Shriberg, L.D. (February, 2013). State of the Art in CAS Diagnostic Marker Research. Review paper presented at the Childhood Apraxia of Speech Association of North America Speech Research Symposium, Atlanta, GA. Shriberg, L. D., Allen, C. T., McSweeny, J. L., & Wilson, D. L. (2001). PEPPER: Programs to examine phonetic and phonologic evaluation records [Computer software]. Madison, WI: Waisman Center Research Computing Facility, University of Wisconsin-Madison. Shriberg, L. D., Ballard, K. J., Tomblin, J. B., Duffy, J. R., Odell, K. H., & Williams, C. A. (2006). Speech, prosody, and voice characteristics of a mother and daughter with a 7;13 translocation affecting FOXP2. Journal of Speech, Language, and Hearing Research, 49, Shriberg, L. D., & Lohmeier, H. L. (2008). The Syllable Repetition Task (Tech. Rep. No. 14). Phonology Project, Waisman Center, University of Wisconsin-Madison. Shriberg, L. D., & Mabie, H. L. (2016). Speech and motor speech classification findings for participants with complex neurodevelopmental disorders. Technical Report in preparation. (Tech. Rep. No. 24). Phonology Project, Waisman Center, University of Wisconsin-Madison. Shriberg, L. D., Strand, E. A., Fourakis, M., Jakielski, K. J., Hall, S. D., Karlsson, H. B., Mabie, H. L., McSweeny, J. L., Tilkens, C. M., & Wilson, D. L. (2016). A diagnostic marker of Childhood Apraxia of Speech (CAS): I. Development and description of the Pause Marker (PM). Manuscript submitted for publication.

References Tilkens, C. M., Karlsson, H. B., Fourakis, M., Hall, S. D., Mabie, H. L, McSweeny, J. L.,... Shriberg, L.D. (2016). A diagnostic marker of Childhood Apraxia of Speech. Technical Report in preparation. (Tech. Rep. No. 22). Phonology Project, Waisman Center, University of Wisconsin-Madison. Tomblin, J.B., O'Brien, M., Shriberg, L.D., Williams, C., Murray, J., Patil, S., et al. (2009). Language features in a mother and daughter of a chromosome 7;13 translocation involving FOXP2. Journal of Speech, Language, and Hearing Research, 52, Wilson, E. M., Abbeduto, L., Camarata, S. M., & Shriberg, L. D. (2016). Prevalence of speech and motor speech disorders and intelligibility correlates in persons with Down syndrome. Manuscript in preparation.