Heritability and Genetic Relationship of Adult Self-Reported Stuttering, Cluttering and Childhood Speech-Language Disorders

• Authors: Fagnani Corrado , Fibiger Steen , Skytthe Axel , Hjelmborg Jacob v. B.

Title variants

PL

Dziedziczność i genetyczne zależności jąkania, giełkotu i zaburzeń rozwoju języka w opisie osób dorosłych

• Languages of publication: EN

Abstracts

EN

Genetic influence and mutual genetic relationship for adult self-reported childhood speech-language disorders, stuttering, and cluttering were studied. Using nationwide questionnaire answers from 34,944 adult Danish twins, a multivariate biometric analysis based on the liability-threshold model was performed in order to estimate heritability of the traits and genetic correlation between them. The lifetime prevalence rates were in agreement with previous reports, and were higher for males than for females for all three traits. The probandwise concordance rates were always substantially higher for monozygotic compared to dizygotic pairs, suggesting genetic influence. Multivariate biometric analyses showed that additive genetic and unique environmental factors best explained the observed concordance patterns. Heritability estimates for males/females were 0.71/0.87 for childhood speech-language disorders, 0.78/0.80 for stuttering, and 0.53/0.65 for cluttering. For each trait, the same genes were suggested to affect liability in males and females. Furthermore, high genetic correlations between the traits were obtained; the estimates for childhood speech-language disorders and stuttering were 0.71/0.79 for males/females, for childhood speech-language disorders and cluttering 0.73/0.56, and for stuttering and cluttering 0.53/0.57. Substantial unique environmental correlations between the traits were also found in both genders. Conclusion: With the limitations related to self-reporting from adult age, this study demonstrates substantial genetic influence on the traits of childhood speech-language disorders, stuttering, and cluttering, and mutual genetic relationship between them.

PL

Celem pracy było zbadanie wzajemnego związku między jąkaniem, giełkotem i rozwojowych zaburzeniami mowy i języka na poziomie genetycznym u dorosłych poprzez zadawanie pytań jednozadaniowych (single-item). Zamiarem było potwierdzenie, czy te pytania zgodne są z wynikami przesiewowych bądź diagnozowanych danych wejściowych. Jeśliby stwierdzono zgodność, autorzy chcieliby rozszerzyć model biometryczny o nowy aspekt związku między tymi trzema cechami rozwojowych zaburzeń komunikacji ustnej.

• Publisher: Polskie Towarzystwo Logopedyczne
• Journal: Logopedia
• Year: 2009
• Volume: 38
• Pages: 71-100

Dates

published

2009-01-01

Contributors

author

Fagnani Corrado

• National Centre for Epidemiology, Italian National Institute of Public Health

author

Fibiger Steen

• Speech and Hearing Department, Centre for Rehabilitation, Region of Southern Denmark

author

Skytthe Axel

• The Danish Twin Registry, Institute of Public Health, University of Southern Denmark

author

Hjelmborg Jacob v. B.

• Department of Biostatistics, Institute of Public Health, University of Southern Denmark

References

• Andersen M. S., Asmussen H., Asmussen J., 2002, The project of Korpus 200 going public. Proceedings of the Tenth EURALEX International Congress, “EURALEX”, vol. 1, ed. by A. Braasch, C. Povlsen, Center for Sprogteknologi, Copenhagen, s. 291–299.
• Andrews G., Morris-Yates A., Howie P., Martin N. G., 1991, Genetic factors in stuttering confirmed (letter to the editor), „Archives of General Psychiatry” 48, 1034–1035.
• Arnold G. E., 1958, Special features and new viewpoints of phoniatric practice in New York, „Folia Phoniatrica”, 10, s. 96–111.
• Arnold G. E., 1960, Studies in tachyphemia, I. Present concepts of etiologic factors, „Logos” 3, s. 25–45.
• Arnold G. E., 1961, The genetic background of developmental language disorders, „Folia Phoniatrica” 13, s. 246–254.
• Arnold, G. E. (1965), Cluttering: Tachyphemia, [in:] R. Luchsinger & G. E. Arnold, „VoiceSpeech-Language”, Belmont, California, Wadsworth, s. 598–622.
• Becker K. P., Grundmann K., 1970, Investigations on Incidence and Symptomatology of Cluttering, „Folia Phoniatrica” 22, s. 261–271.
• Berry M. F., 1937, Twinning in stuttering families, „Human Biology” 9, s. 329–347.
• Berry M. F., 1938, A common denominator in twinning and stuttering, „Journal of Speech Disorders” 3, s. 51–57.
• Bishop D. V. M., North T., Donlan C., 1995, Genetic basis for specific language impairment: evidence from a twin study, „Developmental Medicine & Child Neurology” 37, s. 56–71.
• Bishop D. V. M., Bishop S. J., Bright P., James C., Delaney T., Tallal P., 1999, Different origin of Auditory and phonological processing problems in children with language impairment: Evidence from a twin study, „Journal of Speech, Language, and Hearing Research” 42, s. 155–168.
• Bishop D. V. M., Hayion-Thomas M. E., 2008, Heritability of specific language impairment depends on diagnostic criteria, „Genes Brain and Behavior” 7, s. 365–372.
• Brady P. J., 1993, Treatment of Cluttering, „The New England Journal of Medicine” 329, s. 813–814.
• Button T. M. M., Rhee S. H., Hewitt J. K., Young S. E., Corley R. P., Stallings M. C., 2007, The role of conduct disorder in explaining the comorbidity between alcohol and illicit drug dependence in adolescence, „Drug and Alcohol Dependence” 87, s. 46–53.
• Christiansen L., Frederiksen H., Schousboe K., Skytthe A., von Wurmb-Schwark N., Christensen K., Kyvik K., 2003, Age- and Sex-differences in the validity of Questionnairebased zygosity in twins, „Twin Research” 6, s. 275–278.
• Colledge E., Bishop D. V. M., Koeppen-Schomerus G., Price T. S., Happé F. G. E., Eley T. C., Dale P. S., Plomin R., 2002, The structure of language abilities at 4 years: A twin study, „Developmental Psychology” 38, s. 749–757.
• Dale P. S., Simonoff E., Bishop D. V. M., Eley T. C., Oliver B., Price T. S., Purcell S., Stevenson J., Plomin R., 1998, Genetic influence on language delay in two-year-old children, „Nature Neuroscience” 1, s. 324–328.
• Daly D. A., 1986, The clutterer, [in:] The Atypical Stutterer: Principles and Practices of Rehabilitation, ed. by K. O. St. Louis, Academic Press, New York, s. 155–192.
• Daly D. A., 1993, Cluttering: Another fluency syndrome, [in:] Stuttering and Related Disorders of Fluency, ed. by R. F. Curlee, Thieme Medical Publishers, New York, s. 179–204.
• Daly D. A., 1994, Speech cluttering, „Journal of the American Medical Association” 272, s. 565.
• De Hirsch, K., Langford, W. S., 1950, Clinical note on stuttering and cluttering in young children, „Pediatrics” 5, s. 934–940.
• De Thorne L. S., Hart S. A., Petrill S. A., Deater-Deckard K., Thompson L. A., Schatschneider C., Davison M. D., 2006, Children’s history of speech-language difficulties: Genetic influences and associations with reading related measures, „Journal of Speech Language and Hearing Research” 49, s. 1280–1293.
• Dietsch H., 1968, Heredität, Staatsexamensarbeit, Institut für Sonderschulwesen der Humboldt-Universität, Berlin.
• Dworzynski K., Remington A., Rijsdijk F. Howell P., Plomin R., 2007, Genetic etiology in cases of recovered and persistent stuttering in an unselected, longitudinal sample of young twins, „American Journal of Speech-Language Pathology” 16, s. 169–178.
• Felsenfeld S., Kirk K. M., Zhu G., Statham D. J., Neale M. C., Martin N. G., 2000, A study of the genetic and environmental etiology of stuttering in a selected twin sample, „Behavior Genetics” 30 (5), s. 359–366.
• Fibiger S., Tranebjærg L., Skytthe A., 2004, Language, Speech, Hearing, Reading and Communication Disorders in 35 000 Twins Born in Denmark 1931–1982. 2004 IALP Congress Proceedings. The International Association of Logopedics & Phoniatrics, 29 August to 2 September, Brisbane Convention & Exhibition Centre, Queensland, Australia. ISBN 1 876706 07 8 (Compact Disc).
• Freund H., 1952, Studies in interrelationship between stuttering and cluttering, „Folia Phoniatrica” 4, s. 146–168.
• Gedda L., Bracconi L., Bruno G., 1960, Su alcuni casi di balbuzie in coppie gemellari monoe dizigotiche [About cases of stuttering in mono- and dizygotic twin pairs], „Acta Geneticae Medicae et Gemellologiae” 9, s. 407–426.
• Graf O. I., 1955, Incidence of stuttering among twins, [in:] Stuttering in Children and Adults, ed. by Johnson, W. & Leutenegger, Univ. of Minnesota Press, Minneapolis, s. 381–386.
• Guitar B., 2006, Stuttering. An Integrated Approach to Its Nature and Treatment, Williams & Wilkins, Philadelphia: Lippincott.
• Gutzmann H., 1893, VIII Vorlesung & XI. Vorlesung. Vorlesungen über die Störungen der Sprache und ihre Heilung, gehalten in den Lehrecursen über Sprachstörungen für Aerzte und Lehrer, Fischer’s Medic, Berlin, 174–188, 266–275.
• Hayiou-Thomas, M. E., 2008, Genetic and environmental influences on early speech, language and literacy development, „Journal of Communication Disorders” 41, s. 397–408.
• Hayiou-Thomas, M. E., Oliver, B., Plomin R., 2005, Genetic influences on specific versus nonspecific language impairment in 4-year old twins, „Journal of Learning Disabilities” 38, s. 222–232.
• Howie P., 1981, Concordance for stuttering in monozygotic and dizygotic twin pairs, „Journal of Speech and Hearing Research” 24, s. 317–321.
• Ingram T., 1959, Specific developmental disorders of speech in childhood, „Brain” 82, s. 450–454.
• Johnson W., 1959, The Onset of Stuttering, Univ. of Minnisota Press, Minneapolis, MN.
• Kang C., Riazuddin S., Mundorff J., Krasnewich D., Friedman P., Mullikin J. C., Drayna D., 2010, Mutations in the lysosomal enzyme-targeting pathway and persisting stuttering, „New England Journal of Medicine” 362 (8), s. 677–685.
• Kent R., 2000, Research on speech motor control and its disorders: a review and prospective, „Journal of Communication Disorders” 33, s. 391–428.
• Lewis B. A., Thompson L. A., 1992, A study of developmental speech and language disorders in twins, „Journal of Speech, Language, and Hearing Research” 35, s. 1086–1094.
• Liebmann A., 1900, Vorlesungen über Sprachstörungen. 4, Poltern (Paraphrasia praeceps). Berlin, Coblentz.
• Luchsinger H., 1940, Die Sprache und Stimme von Ein- und Zweieiigen Zwillingen in Beziehung zur Motorik und zum Erbcharacter, „Archiv der Julius Klaus-Stiftung für Vererbungsforschung, Sozialanthropologie und Rassenhygiene”, 15, Zurich, s. 461–527.
• Luchsinger R., 1963, Poltern, Marhold, Berlin-Charlottenburg.
• Nadoleczny M., 1929, Stottern, [w:] Handbuch der Hals-Nasen-Ohren-Heilkunde, 5. Band: Die Krankheiten der Luftwege und der Mundhöhle, Störungen der Stimme und Sprache, Ed. by A. Denker, O. Kahler, Berlin, s. 1151–1176.
• Neale M. C., Cardon L. R., 1992, Methodology for Genetic Studies of Twins and Families, Kluwer Academic, Dordrecht, The Netherlands.
• Neale M. C., Boker S. M., Xie G., Maes H., 2006, Mx: Statistical Modelling, 7th, ed. Richmond, Department of Psychiatry, Virginia Commonwealth University.
• Nelson, S. E., Hunter, N., Walter, M., 1945, Stuttering in twin types, „Journal of Speech Disorders” 10, s. 335–343.
• NIDCD, 2011, Quick stattistics, Retrieved February 18, 2011 from http://www.nidcd.nih.gov/health/statistics/vsl/stats.htm
• Oliver B. E., Plomin R., 2007, Twins’ Developmental Study (TEDS): a multivariate, longitudinal genetic investigation of language, cognition and behavior problems from childhood through adolescence, „Twin Research and Human Genetics” 10, s. 96–105.
• Ooki S., 2005, Genetic and environmental influences on stuttering and tics in Japanese twin children, „Twin Research and Human Genetics” 8, s. 69–75.
• Pfändler A., 1960, Les vices de la parole dans l’optique du généticien, „Current Problems of Phoniatrics and Logopedics” 1, s. 35-40.
• Pichon E., Borel-Maisonny S., 1937, Le bégaiement. Sa nature et son traitement, Masson et Cie, Paris.
• Raphael L. J., Bakker K., Myers F. L., St. Louis K. O., Fichtner V., Kostel M., 2005, An update on diadochokinetic rates of cluttered and normal speech. Poster session presented at the „Annual Convention of the American Speech-Language-Hearing Association”, San Diego, CA.
• Riaz N., Steinberg S., Ahmad J., Pluzhnikov A., Riazuddin S., Cox N. J., Drayna D., 2005, Genomewide significant linkage to stuttering chromosome 12, „American Journal of Human Genetics” 76, 647–651.
• Rutter M., Redshaw J., 1991, Growing up as a twin: Twin-singleton differences in psychological development, „Journal of Child Psychology and Psychiatry” 32, s. 885–895.
• Schacter D. L., 1999, The seven sins of memory: Insights from psychology and cognitive neuroscience, „American Psychologist” 54, s. 182–203.
• Scripture E. W., 1912, Stuttering and Lisping, Macmillan, New York, Also in 2nd Rev. ed. (1923). Stuttering, Lisping and Correction of the Speech of the Deaf, part II, ch. V. Cluttering. Macmillan, New York.
• Seeman M., 1937, Die Bedeutung der Zwillingspathologie für die Erforschung von Sprachleiden (The significance of twin pathology for the investigation of speech disorders), „Archiv für Sprach- und Stimmheilkunde und angewandte Phonetik” 1, s. 88–98.
• Seeman M., 1974, Sprachstörungen bei Kindern, VEB Verlag Volk und Gesundheit, Berlin.
• Shugart Y. Y., Mundorff J., Kilshaw J., Doheny K., Doan B., Wanyee J., Green E. D., Drayna D., 2004, Results of a genome-wide Linkage scan for stuttering, „American Journal of Medical Genetics” 124A, s. 133–135.
• Skytthe A., Kyvik K. O., Holm N. V., Vaupel J. W., Christensen K., 2002, The Danish Twin Registry: 127 birth cohorts of twins, „Twin Research” 5, s. 352–357.
• Skytthe A., Kyvik K., Bathum L, Holm N., Vaupel J. W. G., Christensen K., 2006, The Danish Twin Registry in the New Millenium, „Twin Research and Human Genetics” 9, s. 763–771.
• Spinath F. M., Price T. S., Dale P. S., Plomin R., 2004, The genetic and environmental origins of language diaability and ability, „Child Development” 75, s. 445–454.
• St. Louis K. O., Hinzman A. R., Hull F. M., 1985, Studies of Cluttering: Disfluency and language measures in young possible clutterers and stutterers, „Journal of Fluency Disorders” 10, s. 151–172.
• St. Louis K. O., Raphael L. J., Myers F. L., Bakker K., 2003, Nov. 18. Cluttering updated. The ASHA Leader, 4-5, 20–22.
• St. Louis K. O., McCaffrey E., 2005, Public awareness of cluttering and stuttering: Preliminary results. Poster session presented at the „Annual Convention of the American SpeechLanguage-Hearing Association”, San Diego, California.
• St. Louis K. O., Myers F. L., Bakker K., Raphael L. J., 2007, Understanding and treating of Cluttering, [in:] Stuttering and Related Disorders of Fluency, eds. E. G. Conture, R. F. Curlee, 3rd ed., Thieme Medical Publishers, New York, s. 279–325.
• St. Louis K. O., Filatova Y., Coskun M., Topbas S., Ozdemir S., Georgieva D., McCaffrey E. George R. D., 2010, Identification of cluttering and stuttering by the public in four countries, „International Journal of Speech and Language Pathology” 12, 508–519 (in review).
• Suresh R., Ambrose N., Roe C., Pluzhnikov A., Wittke-Thompson J. K., Ng M. C.-Y., et al., 2006, New complexities in the genetics of stuttering: Significant sex-specific linkage signals, „American Journal of Human Genetics” 78, s. 554–563.
• Thorpe K., 2006, Twin children’s language development, „Early Human Development” 82, s. 387–395.
• Tomblin, J. B., Buckwalter, P. R., 1998, Heritability of poor language achievement among twins, „Journal of Speech, Language and Hearing Research” 41, s. 188–199.
• Treitel L., 1892, Über Sprachstörungen und Sprechentwicklungen, „Archiv für Psychiatrie und Nervenkrankheiten” 24, s. 578–611.
• Van Riper C., 1971, The nature of stuttering, Englewood Cliffs, N J: Prentice-Hall, s. 108, 111.
• Viding E., Spinath F. M., Price T. S., Bishop D. V. M., Dale,P. S., Plomin R., 2004, Genetic and environmental influence on language impairment in 4 year-old same-sex and opposite-sex twins, „Journal of Child Psychology and Psychiatry” 45, s. 315–25.
• Ward D., 2006, Stuttering and Cluttering. Framework for understanding and treatment, Psychology Press, Hove, East Sussex, UK.
• Watkins R. V., 2005, Language abilities of young children who stutter, [in:] Early Childhood Stuttering, E. Yari, N. G. Ambrose, PRO-ED Austin, Texas, s. 235–251.
• Weiss D., 1935, Über die Frage des Polterns und seine Kombination mit Stottern, „Mitteilungen über Sprach und Stimmheilkunde”1, No. 1.
• Weiss D. E., 1950, Der Zusammenhang zwischen Poltern und Stottern, Relationship between cluttering and stuttering, „Folia Phoniatrica” 2, s. 252–262.
• Weiss D., 1964, Cluttering, Englewood Cliffs, Prentice-Hall, New York.
• Weiss D., 1967, Similarities and differences between cluttering and stuttering, „Folia Phoniatrica” 19, s. 98–104.
• Wepman J. M., 1939, Family incidence in stammering, „Journal of Speech Disorders” 5, s. 199–204.
• Witte J., Carlin J., Hopper J., 1999, Likelihood-based approach for estimating twin concordance for dichotomous traits, „Genetic Epidemiology” 16, s. 290–304.
• Wittke-Thompson, J. K., Ambrose, N., Yairi, E., Roe, C., Cook, E. H., Ober, C., Cox, N. J. (2007), Genetic studies of stuttering in a founder population, „Journal of Fluency Disorders” 32, 33–35.
• Yairi E., Ambrose N., Cox N., 1996, Genetics of stuttering: A critical review, „Journal of Speech and Hearing Research” 39, s. 771–784.
• Yairi, E., & Ambrose N. G., 2005, Early Childhood Stuttering, ch. 9: Genetics, s. 285–311, PRO-ED Austin, Texas.