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

Carolyn Β. Mervis · Byron F. Robinson

47 citations0/0 files storedApplied Psycholinguistics

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Language Development and Disorders Reading and Literacy Development Neurobiology of Language and Bilingualism

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?

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References

1994Variability in Early Communicative Development 2003Wechsler Intelligence Scale for Children, Fourth Edition 1997Peabody Picture Vocabulary Test--Third Edition 2000A componential view of theory of mind: evidence from Williams syndrome 1998The rising curve: Long-term gains in IQ and related measures.1991The Validity of a Parent Report Measure of Vocabulary and Syntax at 24 Months 1992The validity of a parent report measure of vocabulary and syntax at 24 months 2005Language symptoms of developmental language disorders: An overview of autism, Down syndrome, fragile X, specific language impairment, and Williams syndrome

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2016Language Development in Individuals With Intellectual and Developmental Disabilities 2008Considerations for appraising diagnostic studies of communication disorders

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