A holistic strategy for improving cognitive development in children with Down syndrome

Down syndrome (DS) is the most frequent autosomal aneuploidy. It is caused by the triplication of human chromosome 21. Disruption of the phenotype is the result of complex gene dosage imbalances regarding chromosome 21 and possibly other chromosomes. The typical DS phenotype is characterized by neurodevelopmental anomalies among which cognitive impairment is prevalent. In recent years, experimental attempts have been made to silence one supernumerary chromosome 21 and correct gene over expressions. They are promising but not practical in human beings. Cognitive pharmacotherapy targeting neurogenesis and synaptic connectivity is in its early stages. In spite of these advances, a complete cure of the condition is not reachable at the present stage and may never be possible given the short time available between syngamy and totipotent or multipotent stem cells in embryonic development. This means that one cannot dispense with behavioral interventions to normalize cognitive functioning in people with DS. The paper reviews current advances in the biomedical treatment of DS and specifies the course and contents of behavioral interventions in memory and language.