Emerging treatments
GABA antagonist
Animal models, particularly trisomic mice, are an important tool in research into the basic mechanism of gene dosage effects in DS. Ts65Dn mice are the most-used model for DS, as they are trisomic for nearly half of the mouse-equivalent HSA21 genes; other models contain only a subset.[13] Studies of these mouse models are examining the developmental and physiological processes in DS, which may shed light on clinical practice. Researchers have studied the effects of a GABA antagonist on Ts65Dn mice. Ts65Dn mice given a GABA antagonist drug developed normal learning behaviour after 17 days. The researchers postulated that, if the neurons of children with DS are similar to those in the Ts65Dn mice, then using a GABA-blocking drug to improve learning in children with DS may be possible.[61] GABA receptor antagonists may work together with other therapies, such as noradrenaline replacement, to promote hippocampal-based memory formation.[62] A randomised controlled trial found that six months of treatment with basmisanil, an investigational selective GABAA-alpha-5 negative allosteric modulator showed no improvements in cognition or adaptive functioning in young adults with DS compared to placebo.[63] Further research is required to assess the safety and efficacy of these molecules. Of note, any drug therapy is likely to be most effective when delivered in concert with tailored educational and interventional therapies.
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