Down Syndrome: Genetic Insights and Thoughts on Early Intervention

The neurobiological consequences of trisomy 21 remain incompletely understood. Considered as a syndrome-complex of chromosomal (genetic) origin with multiple neurodevelopmental and neuropsychological manifestations it will be a very long time before a complete understanding of this condition emerges based upon molecular, genetic, and neurobiological principles. The construct of Down syndrome (DS) as a developmental disorder is, by itself, incomplete and most unsatisfactory based upon emerging biological concepts. However discussions of DS as a developmental disorder characterized primarily by developmental delay, does permit highly complex biological events to be easily conceptualized in terms of the whole child. Our current models of child development and the interventions designed to support neuromaturation in young children with DS will require further integration with emerging genetic, neurobiological, neuropsychological, and pharmacological paradigms. A cogent framework for successful pharmacological treatment of certain aspects of cognitive and behavioral dysfunction is beginning to emerge. At the same time, a growing number of untested, nutrition- and development-based therapies are continually offered to the families of young children. The need for well-designed studies to measure the effects of early, focused clinical intervention of any kind is obvious. Our ability to competently serve young children with DS will advance once a commitment to clinical trials is recognized and acted upon.