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Dr. Peter's research focuses on the genetic etiologies of speech sound disorder and dyslexia. The end goal of genetic studies, however, is not merely the accumulation of molecular information. Rather, Dr. Peter is interested in turning genetic results into actionable findings. In the future, once causal variants are identified in given families with speech or reading disorders, it may become possible to identify infants at genetic risk in these families and to develop effective strategies that can be offered long before a disorder can be diagnosed based just on behavioral testing.
Toward this long-term goal, Dr. Peter collects behavioral and genetic data from individuals and families with communication disorders. Recent discoveries include a de novo heterozygous deletion of BCL11A in a child with childhood apraxia of speech (Peter et al., 2014). This gene is located on chromosome 2 within a known microdeletion region on 2p15-16. Prior to our discovery, micrododeletions of three or more genes in this region have been described in individuals with severe phenotypes including growth retardation, intellectual disabilities, and absense of verbal communication. Interestingly, this gene is located within a previously described candidate region for dyslexia for which no candidate genes had been identified. In a multigenerational family with familial childhood apraxia of speech, we identified CDH18 on chromosome 5 as the main candidate gene. This gene influences synaptic adhesions and, in this family, likely interacts with other genes that also influence neuronal development and functions (Peter et al., 2016). In a second multigenerational family with the same disorder, we found a rare and deleterious mutation in C4orf21 ( ZGRF1) on chromosome 4. This gene is largely unannotated but its paralog, SETX, is a known apraxia candidate gene (Peter et al., 2016).
The Speech/Language Genetics Lab is now launching its first study of early intervention in infants who have a known genetic risk for communication disorders. With funding from the ASU Institute for Social Science Research, we will recruit families with infants who were diagnosed with a metabolic disorder that predisposes them for severe speech disorders. We will implement a course of activities designed to foster earliest signasl of communication, then measure speech outcomes at 24, 36, and 48 months. If we can show that support during during the cooing, babble, and first word phases has a beneficial effect on speech development later on, this will motivate clinical trials of preventative aspects in the clinical management of speech disorders of genetic etiology.
Peter, B., Wijsman, E., Nato, A., University of Washington Centers for Mendelian Genomics, Matsushita, M., Chapman, K., Stanaway, I., Wolff, J., Oda, K. & Raskind, W. (2016). Genetic candidate variants in two multigenerational families with childhood apraxia of speech. PLoS One 11(4)e0153864, doi:10.1371/journal.pone.0153864, http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0153864
Peter, B., Lancaster, H., Vose, C., Fares, A., Schrauwen, I., & Huentelman, M. (in revision). Two unrelated children with overlapping 6q25.3 deletions and motor speech disorders. American Journal of Medical Genetics Part A.
Peter B , Foster B, Haas H, Middleton K, McKibben K. 2015. Direct and octave-shifted pitch matching during nonword imitations in men, women, and children. Journal of Voice 29(2):260 e21-30. doi:10.1016/j.jvoice.2014.06.011
Peter, B., Matsushita, M., Oda, K., & Raskind, W.H. (2014). De novo microdeletion of BCL11A is associated with severe speech sound disorder. American Journal of Medical Genetics Part A. wileyonlinelibrary.com, DOI 10.1002/ajmg.a.36599. PMID: 24810580
Raskind, W.H., Peter, B., Richards, T., Eckert, M., & Berninger, V. (2013). The genetics of reading disability: From phenotypes to candidate genes. Frontiers in Educational Psychology, Article 601. doi: 10.3389/fpsyg.2012.00601. PMID: 23308072. Also published as an e-book, L. Kalbfleisch (Ed.), Educational neuroscience, constructivist learning, and the mediation of learning and creativity in the 21st century. Frontiers Research Topics, June 2015, pp. 96-116.
Peter, B. , Button, L.A., Chapman, K., Stoel-Gammon, C., & Raskind, W.H. (2013). Global sequencing deficits in a multigenerational family with familial childhood apraxia of speech. Clinical Linguistics & Phonetics, 22(5), 226-234. DOI: 10.3109/02699206.2012.736011. PMID: 23339324
Button, L.A., Peter, B., Stoel-Gammon, C., & Raskind, W.H. (2013). Sequencing deficits in multiple modalities as a residual effect of childhood apraxia of speech in adults: A replication study. Clinical Linguistics & Phonetics, Early Online 1-21. DOI: 10.3109/02699206.2012.744097. PMID: 23339292
Peter, B., Matsushita, M., & Raskind, W.H. (2012). Motor sequencing deficit as an endophenotype of speech sound disorder: A genome-wide linkage analysis in a multigenerational family. Psychiatric Genetics 22(5), 226-234. PMID: 22517379.
Peter, B. (2012). Oral and hand movement speeds are associated with language ability in children with speech sound disorder. Journal of Psycholinguistic Research, 41(6), 455-474. DOI: 10.1007/s10936-012-9199-1 . PMID: 22411590.
Peter, B., & Raskind, W.H. (2011). Evidence for a familial speech sound disorder subtype in a multigenerational family study of oral and hand motor sequencing ability. Topics in Language Disorders, 31(2), 145-167. PMID: 21909176.
Peter, B., Matsushita, M., & Raskind, W.H. (2011). Global performance speeds in a family study of dyslexia: factor analytic models. Journal of Speech, Language, and Hearing Research, 54(3), 885-899. PMID: 21081672, PMCID: PMC3874392.
Peter B, Raskind WH, Matsushita M, Lisowski M, Vu T, Berninger VW, Wijsman EM, Brkanac Z. (2011). Replication ofCNTNAP2 association with nonword repetition and support for FOXP2 association with timed reading and motor activities in a dyslexia family sample. Journal of Neurodevelopmental Disorders, 3(1):39-49. PMID: 21484596. PMCID: PMC3163991.
Peter, B., Larkin, T. & Stoel-Gammon, C. (2009). Octave-shifted pitch matching: The effects of lexical stress and speech sound disorder. Journal of the Acoustical Society of America, 126(4):1663-1666. PMID: 19813781.
Raskind WH, Matsushita M, Peter B, Biberston J, Wolff J, Lipe H, Burbank R, Bird TD. 2008. Familial dyskinesia and facial myokymia (FDFM): Follow-up of a large family and linkage to chromosome 3p21-3q21. American Journal of Medical Genetics Part B. 150B (4):570-574. PMID:18980218 . PMCID: PMC3116722.
Peter, B ., & Stoel-Gammon, C. (2008). Central timing deficits in children with primary speech disorders. Clinical Linguistics & Phonetics, 22(3), 171-198. PMID: 18307084 .
Peter, B ., & Stoel-Gammon, C. (2005). Timing errors in two children with suspected childhood apraxia of speech (sCAS) during speech and music-related tasks. Clinical Linguistics & Phonetics, 19(2), 67-87. PMID: 15704499.
Peter, B., & Stoel-Gammon, C. (2004). Subsyllabic component durations in three children with suspected childhood apraxia of speech, two children with typical development, one child with phonologic delay, and one adult. Speechpathology.com, 25 October 2004, http://speechpathology.com/articles/arc_disp.asp?id=238 .