title: Language phenotypes and intervention planning: bridging research and practice.
abstract: This paper focuses on the communication and language phenotypes associated with three genetic disorders: Down syndrome, Williams syndrome, and fragile X syndrome. It is argued that there is empirical evidence that these disorders predispose children to specific profiles of strength and weakness in some areas of speech, language, and communication, and that intervention planning for children with each syndrome may take an approach informed by these profiles. Issues related to within-group variability, shared outcomes among syndromes, and the need for empirical validation for syndrome-specific recommendations are discussed.
authors.affiliation: Human Development and Family Studies, Colorado State University, Fort Collins, Colorado 80523, USA. Deborah.Fidler@colostate.edu
authors.forename: Deborah J
authors.initials: DJ
authors.lastname: Fidler
authors.forename: Amy
authors.initials: A
authors.lastname: Philofsky
authors.forename: Susan L
authors.initials: SL
authors.lastname: Hepburn
mesh_terms: D004314:Down Syndrome / Q000453:epidemiology*; D019317:Evidence-Based Medicine; D005600:Fragile X Syndrome / Q000453:epidemiology*; D006285:Health Planning / Q000379:methods*; D006801:Humans; D007805:Language Development Disorders / Q000453:epidemiology* / Q000628:therapy*; D007808:Language Therapy / Q000379:methods*; D010641:Phenotype; D010818:Practice Patterns, Physicians'; D018980:Williams Syndrome / Q000453:epidemiology*