Difficulties in Locating Discrete Diagnostic Categories

Abstract

This chapter analyses the difficulties in locating discrete diagnostic categories and is divided into two parts. In the first part, the genetic and behavioral (linguistic-cognitive) findings between some developmental disorders of spoken and written language are presented. Specifically, findings from multigenic disorders are presented. In the second part of the chapter, the two monogenic genetic syndromes, Down syndrome and Williams-Beuren syndrome, are selected and the genetic and behavioral findings are compared and listed. The purpose of this chapter is for the reader to have a clear picture of the degree of distinctiveness of developmental disorders. It is considered necessary to study the genetic (common or not), linguistic and cognitive developmental profile of the disorders that overlap or are demarcated for a clearer picture of these but also of the possibilities, playing a decisive role in early diagnosis, in the successful design of therapeutic strategies, either at an early stage of intervention, either at the level of school education but also in further research.