The Developing Communication Phenotype- a response to Shprintzen (1997)

Abstract

Shprintzen (1997) elicited concerns regarding the lack of representation from Communication Science in the field of genetics. The high percentage of genetic syndromes associated with speech impairment (87.6 %) makes an understanding of the communication profile in response to the syndrome's genetic make-up or communication phenotype invaluable for Speech and Language Therapists (SLTs) (Houston 2012, Van Borsel 2004). Since 1997, the field of genetics has rapidly developed, as have the implications for clinical practice. A systematic review using four exemplar syndromes of Down Syndrome, Rett Syndrome, Angelman Syndrome and Prader-Willi Syndrome revealed substantial development in the research body regarding communication phenotype since Shprintzen (1997). The quantity of research activity correlated to the prevalence of the syndrome. An investigation of the usefulness of this research for clinical practice revealed the use of highly specified professional terminology to describe communication phenotype capturing sufficient detail required by SLTs. However despite this increase in research and the appropriate use of terminology, there remain areas which require development. The presence of reviews establishing a secure representation of communication phenotype is sparse, particularly for less prevalent syndromes. Indications of the developmental trajectory of speech and language characteristics are limited and SLTs remain poorly represented in the research community. This study highlights encouraging developments but calls for a communication phenotype which is applicable to clinical practice for all syndromes to be established, facilitating holistic management in light of the evidence base (RCSLT 2006).