Hostname: page-component-cd9895bd7-dk4vv Total loading time: 0 Render date: 2024-12-22T18:52:20.595Z Has data issue: false hasContentIssue false

Discriminating Down Syndrome and Fragile X Syndrome based on language ability*

Published online by Cambridge University Press:  05 December 2012

LIZBETH H. FINESTACK*
Affiliation:
Department of Speech-Language-Hearing Sciences, University of Minnesota
AUDRA M. STERLING
Affiliation:
Waisman Center, University of Wisconsin-Madison
LEONARD ABBEDUTO
Affiliation:
MIND Institute, University of California, Davis
*
Address for correspondence: Lizbeth H. Finestack, Department of Speech-Language-Hearing Sciences, University of Minnesota, 164 Pillsbury Dr. SE, Minneapolis, MN 55455. e-mail: [email protected].

Abstract

This study compared the receptive and expressive language profiles of verbally expressive children and adolescents with Down Syndrome (DS) and those with Fragile X syndrome (FXS) and examined the extent to which these profiles reliably differentiate the diagnostic groups. A total of twenty-four verbal participants with DS (mean age: 12 years), twenty-two verbal participants with FXS (mean age: 12 years), and twenty-seven participants with typical development (TD; mean age = 4 years) completed standardized measures of receptive and expressive vocabulary and grammar, as well as a conversational language sample. Study results indicate that there are distinct DS and FXS language profiles, which are characterized by differences in grammatical ability. The diagnostic groups were not differentiated based on vocabulary performance. This study supports the existence of unique language profiles associated with DS and FXS.

Type
Articles
Copyright
Copyright © Cambridge University Press 2012

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

Footnotes

[*]

We extend our gratitude to the participants and their families who made this project possible. Preparation of this manuscript was supported by the following grant awards from the National Institutes of Health: R01HD024356, T32HD007489 and P30HD003352.

References

REFERENCES

Abbeduto, L., Brady, N. & Kover, S. T. (2007). Language development and fragile X syndrome: Profiles, syndrome-specificity, and within-syndrome differences. Mental Retardation and Developmental Disabilities Research Reviews 13(1), 3646.CrossRefGoogle ScholarPubMed
Abbeduto, L., Murphy, M. M., Cawthon, S. W., Richmond, E. K., Weissman, M. D., Karadottir, S. & O'Brien, A. (2003). Receptive language skills of adolescents and young adults with Down syndrome or fragile X syndrome. American Journal on Mental Retardation 108(3), 149–60.Google Scholar
Abbeduto, L., Murphy, M. M., Rice, M. L. & Warren, S. F. (2004). Language, social cognition, maladaptive behavior, and communication in Down syndrome and Fragile X syndrome. In Rice, M. L. & Warren, S. F. (eds), Developmental language disorders: From phenotypes to etiologies, 7797. Mahwah, NJ: Lawrence Erlbaum Associates.Google Scholar
Abbeduto, L., Murphy, M. M., Richmond, E. K., Amman, A., Beth, P., Weissman, M. D., Kim, J.-S., Cawthorn, S. W. & Karadottir, S. (2006). Collaboration in referential communication: Comparison of youth with Down syndrome or fragile X syndrome. American Journal on Mental Retardation 111(3), 170–83.Google Scholar
Bailey, D. B., Mesibov, G. B., Hatton, D. D., Clark, R. D., Roberts, J. E. & Mayhew, L. (1998). Autistic behavior in young boys with fragile X syndrome. Journal of Autism and Developmental Disorders 28, 499508.CrossRefGoogle ScholarPubMed
Bishop, D. V. M. (1983). The Test for Reception of Grammar, Version 2. London: Psychological Corporation.Google Scholar
Boudreau, D. M. & Chapman, R. S. (2000). The relationship between event representation and linguistic skill in narratives of children and adolescents with Down syndrome. Journal of Speech, Language, and Hearing Research 43(5), 1146–59.CrossRefGoogle ScholarPubMed
Brady, N. C., Bredin-Oja, S. L., Warren, S. E., Roberts, J. E., Chapman, R. S. & Warren, S. F. (2008). Prelinguistic and early language interventions for children with Down syndrome or fragile X syndrome. In Roberts, J. E., Chapman, R. S. & Warren, S. F. (eds), Speech and language development and intervention in Down syndrome and fragile X syndrome, 173–92. Baltimore, MD: Paul H. Brookes.Google Scholar
Bregman, J. D., Leckman, J. F. & Ort, S. I. (1988). Fragile X syndrome: Genetic predisposition to psychopathology. Journal of Autism and Developmental Disorders 18(3), 343–54.CrossRefGoogle ScholarPubMed
Carrow-Woolfolk, E. (1985). Test for Auditory Comprehension of Language – Revised. Allen, TX: DLM Teaching Resources.Google Scholar
Carrow-Woolfolk, E. (1999 a). Comprehensive Assessment of Spoken Language. Circle Pines, MN: American Guidance Service.Google Scholar
Carrow-Woolfolk, E. (1999 b). Test for Auditory Comprehension of Language – Third Edition. Circle Pines, MN: American Guidance Services.Google Scholar
Chapman, R. S., Schwartz, S. E. & Kay-Raining Bird, E. (1991). Language skills of children and adolescents with Down syndrome: I Comprehension. Journal of Speech & Hearing Research 34(5), 1106–120.Google Scholar
Chapman, R. S., Seung, H.-K., Schwartz, S. E. & Bird, E. K.-R. (1998). Language skills of children and adolescents with Down syndrome: II Production deficits. Journal of Speech, Language, and Hearing Research 41(4), 861–73.Google Scholar
Cohen, J. (1988). Statistical power analysis for the behavioral sciences. Hillsdale, NJ: Erlbaum.Google Scholar
Crawford, D. C., Acuna, J. M. & Sherman, S. L. (2001). FMR1 and the fragile x syndrome: Human genome epidemiology review. Genetics in Medicine 3, 359–71.Google Scholar
Dunn, L. & Dunn, L. (1981). Peabody Picture Vocabulary Test – Revised. Circle Pines, MN: American Guidance Service.Google Scholar
Dunn, L. & Dunn, L. (1997). Peabody Picture Vocabulary Test – Third Edition. Circle Pines, MN: American Guidance Service.Google Scholar
Dykens, E. M., Hodapp, R. M. & Finucane, B. M. (2000). Genetics and mental retardation syndromes: A new look at behavior and interventions. Baltimore, MD: Paul H. Brookes.Google Scholar
Eadie, P. A., Fey, M. E., Douglas, J. M. & Parsons, C. L. (2002). Profiles of grammatical morphology and sentence imitation in children with specific language impairment and Down syndrome. Journal of Speech, Language, and Hearing Research 45(4), 720–32.Google Scholar
Esbensen, A. J., Seltzer, M. M., Abbeduto, L., Roberts, J. E., Chapman, R. S. & Warren, S. F. (2008). Family well-being in Down syndrome and fragile X syndrome. In Roberts, J. E., Chapman, R. S. & Warren, S. F. (eds), Speech and language development and intervention in Down syndrome and fragile X syndrome, 275–92. Baltimore, MD: Paul H. Brookes.Google Scholar
Fernandez-Carvajal, I., Walichiewicz, P., Xiaosen, X., Pan, R., Hagerman, P. & Tassone, F. (2009). Screening for expanded alleles of the FMR1 gene in blood spots from newborn males in a Spanish population. Journal of Molecular Diagnostics 11, 324–28.Google Scholar
Fidler, D. J. & Nadel, L. (2007). Education and children with Down syndrome: Neuroscience, development, and intervention. Mental Retardation and Developmental Disabilities Research Reviews 13(3), 262–71.CrossRefGoogle ScholarPubMed
Finestack, L. H. & Abbeduto, L. (2010). Expressive language profiles of verbally expressive adolescents and young adults with Down syndrome or fragile X syndrome. Journal of Speech, Language, and Hearing Research 53, 1334–48.Google Scholar
Finestack, L. H., Richmond, E. & Abbeduto, L. (2009). Language development in individuals with fragile x syndrome. Topics in Language Disorders 29(2), 133–48.Google Scholar
Flanagan, T., Enns, J. T., Murphy, M. M., Russo, N., Abbeduto, L., Randolph, B. & Burack, J. A. (2007). Differences in visual orienting between persons with Down or fragile X syndrome. Brain and Cognition 65(1), 128–34.Google Scholar
Hagerman, P. (2008). The fragile X prevalence paradox. Journal of Medical Genetics 45, 498–99.Google Scholar
Hagerman, R. J. (2008). Etiology, diagnosis, and development in Fragile X syndrome. In Roberts, J., Chapman, R. & Warren, S. F. (eds), Speech and language development and intervention in Down syndrome and Fragile X syndrome, 2749. Baltimore, MD: Paul H. Brookes.Google Scholar
Harris, S. W., Hessl, D., Goodlin-Jones, B., Ferranti, J., Bacalman, S., Barbato, I., Tassone, F., Hagerman, P. J., Herman, K. & Hagerman, R. J. (2008). Autism profiles of males with fragile X syndrome. American Journal on Mental Retardation 6, 427–38.Google Scholar
Hick, R. F., Botting, N. & Conti-Ramsden, G. (2005). Short-term memory and vocabulary development in children with Down syndrome and children with specific language impairment. Developmental Medicine & Child Neurology 47(8), 532–38.CrossRefGoogle ScholarPubMed
Improved national prevalence estimates for 18 selected major birth defects – United States 1999–2001 (2006). Morbidity and Mortality Weekly Report 54(51/52), 1301–305.Google Scholar
Joffe, V. & Varlokosta, S. (2007). Patterns of syntactic development in children with Williams syndrome and Down's syndrome: Evidence from passives and wh-questions. Clinical Linguistics & Phonetics 21(9), 705727.Google Scholar
Keller-Bell, Y. D. & Abbeduto, L. (2007). Narrative development in adolescents and young adults with fragile X syndrome. American Journal on Mental Retardation 112(4), 289–99.Google Scholar
Laws, G. & Bishop, D. V. (2003). A mcomparison of language abilities in adolescents with Down syndrome and children with specific language impairment. Journal of Speech, Language, and Hearing Research 46(6), 1324–39.Google Scholar
Lee, L. (1974). Developmental sentence analysis. Evanston, IL: Northwestern University Press.Google Scholar
Loban, W. (1976). Language development: Kindergarten through grade twelve. Urbana, IL: National Council of Teachers of English.Google Scholar
Lord, C., Rutter, M., DiLavore, P. C. & Risi, S. (2002). Autism Diagnostic Observation Schedule. Los Angeles: Western Psychological Services.Google Scholar
Lord, C., Rutter, M. & Le Couteur, A. (1994). Autism Diagnostic Interview–Revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. Journal of Autism and Developmental Disorders 24(5), 659–85.Google Scholar
Mazzocco, M. M., Baumgardner, T., Freund, L. S. & Reiss, A. L. (1998). Social functioning among girls with fragile X or Turner syndrome and their sisters. Journal of Autism and Developmental Disorders 28(6), 509517.Google Scholar
McDuffie, A., Abbeduto, L., Lewis, P., Kover, S., Kim, J.-S., Weber, A. & Brown, W. (2010). Autism spectrum disorder in children and adolescents with fragile X syndrome: Within-syndrome differences and age-related changes. American Journal on Intellectual and Developmental Disabilities 115(4), 307326.Google Scholar
McDuffie, A., Kover, S., Abbeduto, L., Lewis, P. & Brown, T. (2012). Profiles of receptive and expressive language abilities in boys with comorbid Fragile X syndrome and autism. American Journal on Intellectual and Developmental Disabilities 117(1), 1832.Google Scholar
Mervis, C. B. & Robinson, B. F. (2003). Methodological issues in cross-group comparisons of language and cognitive development. In Levy, Y. & Schaeffer, J. (eds), Language competence across populations: Toward a definition of specific language impairment, 233–58. Mahwah, NJ: Lawrence Erlbaum Associates.Google Scholar
Miller, J. F. & Chapman, R. (2000). SALT: Systematic Analysis of Language Transcripts [Computer software]. Language Analysis Laboratory, Waisman Center, University of Wisconsin-Madison.Google Scholar
Miller, J. F. & Yoder, D. E. (1984). Miller–Yoder Language Comprehension Test. Baltimore, MD: University Park Press.Google Scholar
Pierpont, E. I., Richmond, E. K., Abbeduto, L., Kover, S. T. & Brown, W. (2011). Contributions of phonological and verbal working memory to language development in adolescents with fragile X syndrome. Journal of Neurodevelopmental Disorders 3(4), 335–47.CrossRefGoogle ScholarPubMed
Price, J., Roberts, J., Hennon, E. A., Berni, M. C., Anderson, K. L. & Sideris, J. (2008). Syntactic complexity during conversation of boys with fragile X syndrome and Down syndrome. Journal of Speech, Language, and Hearing Research 51(1), 3–15.CrossRefGoogle ScholarPubMed
Price, J., Roberts, J., Vandergrift, N. & Martin, G. (2007). Language comprehension in boys with fragile X syndrome and boys with Down syndrome. Journal of Intellectual Disability Research 51(4), 318–26.Google Scholar
Rice, M. L., Warren, S. F. & Betz, S. K. (2005). Language symptoms of developmental language disorders: An overview of autism, Down syndrome, fragile X, specific language impairment, and Williams syndrome. Applied Psycholinguistics 26(1), 7–27.CrossRefGoogle Scholar
Roberts, J., Hennon, E. A., Price, J. R., Dear, E., Anderson, K. & Vandergrift, N. A. (2007). Expressive language during conversational speech in boys with Fragile X syndrome. American Journal on Mental Retardation 112(1), 117.CrossRefGoogle ScholarPubMed
Roberts, J., Martin, G. E., Moskowitz, L., Harris, A. A., Foreman, J. & Nelson, L. (2007). Discourse skills of boys with fragile X syndrome in comparison to boys with Down syndrome. Journal of Speech, Language, and Hearing Research 50(2), 475–92.Google Scholar
Roberts, J., Price, J., Barnes, E., Nelson, L., Burchinal, M., Hennon, E. A., Moskowitz, L., Edwrads, A., Malkin, C., Anderson, K., Misenheimer, J. & Hooper, S. R. (2007). Receptive vocabulary, expressive vocabulary, and speech production of boys with fragile X syndrome in comparison to boys with Down Syndrome. American Journal on Mental Retardation 112(3), 177–93.Google Scholar
Roberts, J., Stoel-Gammon, C., Barnes, E. F., Chapman, R. S. & Warren, S. F. (2008). Phonological characteristics of children with Down syndrome or fragile X syndrome. In Roberts, J. E., Chapman, R. S. & Warren, S. F. (eds), Speech and language development and intervention in Down syndrome and fragile X syndrome, 143–70. Baltimore, MD: Paul H Brookes Publishing.Google Scholar
Rogers, S. J., Wehner, E. A. & Hagerman, R. (2001). The behavioral phenotype in fragile X: Symptoms of autism in very young children with fragile X syndrome, idiopathic autism, and other developmental disorders. Developmental and Behavioral Pediatrics 22, 409417.CrossRefGoogle ScholarPubMed
Roid, G. H. & Miller, L. J. (1997). Leiter International Performance Scale – Revised. Los Angeles: Western Psychological Services.Google Scholar
Rosin, M. M., Swift, E., Bless, D. & Kluppel Vetter, D. (1988). Communication profiles of adolescents with Down syndrome. Journal of Childhood Communication Disorders 12(1), 4964.CrossRefGoogle Scholar
Scarborough, H. S. (1990). Index of productive syntax. Applied Psycholinguistics 11, 122.Google Scholar
Semel, E., Wiig, E. H. & Secord, W. (1987). Clinical Evaluation of Language Fundamentals – Revised. San Antonio, TX: Psychological Corporation.Google Scholar
Tabachnick, B. G. & Fidell, L. S. (2001). Using multivariate statistics, 4th edn. Boston: Allyn and Bacon.Google Scholar
Thordardottir, E. T., Chapman, R. S. & Wagner, L. (2002). Complex sentence production by adolescents with Down syndrome. Applied Psycholinguistics 23(2), 163–83.CrossRefGoogle Scholar
Williams, K. T. (1997). Expressive Vocabulary Test. Circle Pines, MN: American Guidance Service.Google Scholar
Williams, K. T. (2007). Expressive Vocabulary Test. Circle Pines, MN: American Guidance Service.Google Scholar