Designing measures for profiling and genotype/phenotype studies of individuals with genetic syndromes or developmental language disorders
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?
c1 Carolyn B. Mervis, Department of Psychological and Brain Sciences, 317 Life Sciences Building, University of Louisville, Louisville, KY 40292. E-mail: email@example.com