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Designing measures for profiling and genotype/phenotype studies of individuals with genetic syndromes or developmental language disorders

Published online by Cambridge University Press:  01 January 2005

CAROLYN B. MERVIS  and
BYRON F. ROBINSON
CAROLYN B. MERVIS
Affiliation:
University of Louisville
BYRON F. ROBINSON
Affiliation:
Georgia State University
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Abstract

Accurate phenotypic description is critical for the success of studies of the genetic basis for developmental language disorders. An important purpose of such a phenotypic description is to differentiate the language and associated cognitive profiles of syndromes or other developmental language disorders with diverse genotypes. In this paper we consider six measurement issues relevant to genotype/phenotype research and profiling: (a) Who is the target population? (b) What is the “ideal” measure of a single component of language? (c) What is the “ideal” measure(s) for quantifying the language (or language and cognitive) profile for a particular syndrome or disorder? (d) What are the special measurement issues for infants and young children? (e) How do we develop a profile? (f) What are the unresolved issues?

Type
Articles
Information
Applied Psycholinguistics , Volume 26 , Issue 1 , January 2005 , pp. 41 - 64
Copyright
© 2005 Cambridge University Press

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References

Avons S. E., Christopher A., Wragg A., Cupples L., & Lovegrove W. J. 1998. Measures of phonological short-term memory and their relationship to vocabulary development. Applied Psycholinguistics, 19, 583– 601.Google Scholar
Bates E. 2004. Explaining and interpreting deficits in language development across clinical groups: Where do we go from here? Brain and Language, 88, 248– 255.Google Scholar
Bayley N. 1993. Bayley scales of infant development (2nd ed.). San Antonio, TX: Psychological Corporation.
Bellugi U., Wang P. P., & Jernigan T. L. 1994. Williams syndrome: An unusual neuropsychological profile. In S. H. Broman & J. Grafman (Eds.), Atypical cognitive deficits in developmental disorders: Implications for brain function (pp. 23– 56). Hillsdale, NJ: Erlbaum.
Bishop D. V. M. 1989. Test for the Reception of Grammar. Manchester, UK: Chapel Press.
Costanzo Z. L., Rowe M. L., Peregrine E., Hutchins S. G., & Mervis C. B. 2004. Longitudinal relations among parental report and laboratory measures of lexical and grammatical development by children with Williams syndrome. Grand Rapids, MI: International Professional Meeting of the Williams Syndrome Association.
Dale P. S. 1991. The validity of a parent report measure of vocabulary and syntax at 24 months. Journal of Speech and Hearing Sciences, 34, 565– 571.Google Scholar
Dunn L. M., & Dunn L. M. 1981. Peabody Picture Vocabulary Test—Revised. Circle Pines, MN: American Guidance Service.
Dunn L. E., & Dunn L. E. 1997. Peabody Picture Vocabulary Test (3rd ed.). Circle Pines, MN: American Guidance Service.
Edmonston N. K., & Litchfield Thane N. 1988. TRC: Test of Relational Concepts. Austin, TX: PRO-ED.
Elliott C. D. 1990a. Differential Ability Scales. San Antonio, TX: Psychological Corporation.
Elliott C. D. 1990b. Differential Ability Scales: Introductory and technical handbook. San Antonio, TX: Psychological Corporation.
Fenson L., Dale P. S., Reznick J. S., Bates E., Thal D., & Pethick S. 1994. Variability in early communicative development. Monographs of the Society for Research in Child Development, 59 (5, Serial No. 242).Google Scholar
Fenson L., Dale P. S., Reznick J. S., Thal D., Bates E., Hartung J. P., Pethick S., & Reilly J. S. 1993. MacArthur Communicative Development Inventories: User's guide and technical manual. San Diego, CA: Singular.
Hutchins S. G., Rowe M. L., Peregrine E., & Mervis C. B. 2004. Language and cognitive abilities of young 4-year-olds with Williams syndrome. Grand Rapids, MI: International Professional Meeting of the Williams Syndrome Association.
Kaufman A. S., & Kaufman N. L. 1990. Kaufman Brief Intelligence Test. Circle Pines, MN: American Guidance Services.
McCardle P., Cooper J., & Freund L. 2005. Language and genetics: Needs and opportunities. Applied Psycholinguistics, 26, 129– 135.Google Scholar
Mervis C. B. 2004. Cross-etiology comparisons of cognitive and language development. In M. L. Rice & S. Warren (Eds.), Developmental language disorders: From phenotypes to etiologies (pp. 153– 185). Mahwah, NJ: Erlbaum.
Mervis C. B., & Klein–Tasman B. P. 2004. Methodological issues in group-matching designs: α levels for control variable comparisons and measurement characteristics of control and target variables. Journal of Autism and Developmental Disorders, 34, 7– 17.Google Scholar
Mervis C. B., Morris C. A., Bertrand J., & Robinson B. F. 1999. Williams syndrome: Findings from an integrated program of research. In H. Tager–Flusberg (Ed.), Neurodevelopmental disorders (pp. 65– 110). Cambridge, MA: MIT Press.
Mervis C. B., & Robinson B. F. 1999. Methodological issues in cross-syndrome comparisons: Matching procedures, sensitivity (Se), and specificity (Sp). Commentary on M. Sigman & E. Ruskin, Continuity and change in the social competence of children with autism, Down syndrome, and developmental delays. Monographs of the Society for Research in Child Development, 64 (Serial No. 256), 115– 130.Google Scholar
Mervis C. B., & Robinson B. F. 2003. Methodological issues in cross-group comparisons of language and/or cognitive development. In Y. Levy & J. Schaeffer (Eds.), Language competence across populations: Toward a definition of SLI (pp. 233– 258). Mahwah, NJ: Erlbaum.
Mervis C. B., Robinson B. F., Bertrand J., Morris C. A., Klein–Tasman B. P., & Armstrong S. C. 2000. The Williams Syndrome Cognitive Profile. Brain and Cognition, 44, 604– 628.Google Scholar
Mervis C. B., Robinson B. F., Rowe M. L., Becerra A. M., & Klein–Tasman B. P. 2003. Language abilities of people with Williams syndrome. In L. Abbeduto (Ed.), International review of research in mental retardation (Vol. 27). Orlando, FL: Academic Press.
Miller J. F. 1992. Lexical development in young children with Down syndrome. In R. S. Chapman (Ed.), Processes in language acquisition disorders (pp. 202– 216). St. Louis, MO: Mosby Year Book.
Mullen E. M. 1995. Mullen scales of early learning. Circle Pines, MN: American Guidance Service.
Neisser U. 1998. The rising curve: Long term gains in IQ and related measures. Washington, DC: American Psychological Association.
Nichols S., Jones W., Roman M. J., Wulfeck B., Delis D. C., Reilly J., & Bellugi U. 2004. Mechanisms of verbal memory impairment in four neurodevelopmental disorders. Brain and Language, 88, 180– 189.Google Scholar
Peña E. D. 1996. Dynamic assessment: The model and its language applications. In S. F. Warren & J. Reichle (Ser. Eds.) & K. N. Cole, P. S. Dale, & D. J. Thal (Vol. Eds.), Communication and language intervention series: Vol. 6. Assessment of communication and language (pp. 281– 307). Baltimore, MD: Brookes.
Piattelli–Palmarini M. 2001. Grammar—The barest essentials. Nature, 411, 887– 888.Google Scholar
Rice M. L. 2004. Growth models of developmental language disorders. In M. L. Rice & S. F. Warren (Eds.), Developmental language disorders: From phenotypes to etiologies (pp. 207– 240). Mahwah, NJ: Erlbaum.
Rice M. L., Tomblin J. B., Hoffman L., Richman W. A., & Marquis J. 2004. Grammatical tense deficits in children with SLI and nonspecific language impairment: Relationships with nonverbal IQ over time. Journal of Speech, Language, and Hearing Research, 47, 816– 834.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, 7– 27.Google Scholar
Rice M. L., & Wexler K. 2001. Rice Wexler Test of Early Grammatical Impairment. San Antonio, TX: Psychological Corporation.
Robinson B. F., & Mervis C. B. 1996. Extrapolated raw scores for the second edition of the Bayley Scales of Infant Development. American Journal on Mental Retardation, 100, 666– 671.Google Scholar
Semel E., Wiig E. H., & Secord W. A. 2003. Clinical evaluation of language fundamentals (4th ed.). San Antonio, TX: Psychological Corporation.
Seymour H. N., Roeper T. W., & de Villiers J. 2003. DELV: Diagnostic Evaluation of Language Variation. San Antonio, TX: Psychological Corporation.
Sigman M., & Ruskin E. 1999. Continuity and change in the social competence of children with autism, Down syndrome, and developmental delays. Monographs of the Society for Research in Child Development, 64 (Serial No. 256).Google Scholar
Smith N., & Tsimpli I.-M. 1995. The mind of a savant: Language learning and modularity. Oxford: Blackwell.
Smith S. D., & Morris C. A. 2005. Planning studies of etiology. Applied Psycholinguistics, 26, 97– 110.Google Scholar
Tager–Flusberg H., & Sullivan K. 2000. A componential view of theory of mind: Evidence from Williams syndrome. Cognition, 76, 59– 90.Google Scholar
Weaver I. C., Cervoni N., Champagne F. A., D'Alessio A. C., Sharma S., Seckl J. R., Dymov S., Szyf M., & Meaney M. J. 2004. Eigenetic programming by maternal behavior. Nature Neuroscience, 7, 847– 854.Google Scholar
Wetherby A. M., & Prizant B. M. 2003. CSBS manual: Communication and Symbolic Behavior Scales: Normed edition. Baltimore, MD: Brookes. (Original work published 1992).
Wetherby A. M., & Prizant B. M. 2002. CSBS DP manual: Communication and Symbolic Behavior Scales Developmental Profile: First normed edition. Baltimore, MD: Brookes.
Wechsler D. 1991. Wechsler Intelligence Test for Children (3rd ed.). San Antonio, TX: Psychological Corporation.
Wechsler D. 2004. Wechsler Intelligence Test for Children (4th ed.). San Antonio, TX: Psychological Corporation.