There are a number of symptoms associated with Down syndrome , which is caused by trisomy of chromosome 21, including intellectual disability and olfactory loss.In order to enhance the cognitive abilities of a small sample of Down syndrome patients, anteam at the Lille Neuroscience & Cognition laboratory has collaborated with their counterparts at Lausanne University Hospital .
In light of this, the Lille Neuroscience & Cognition laboratory team under the direction of Vincent Prévot, Inserm Research Director, investigated the mechanism regulating GnRH in mouse models of Down syndrome. These findings in mice were discussed with Nelly Pitteloud, professor at the Faculty of Biology and Medicine of the University of Lausanne and head of the Endocrinology, Diabetology, and Metabolism Department at CHUV. Her research focuses on congenital GnRH deficiency, a rare disease which manifests by the absence of spontaneous puberty. These patients are given pulsatile GnRH therapy in order to reproduce the natural pulsatile rhythm of this hormone’s secretion, in order to induce puberty.
From the clinical viewpoint, cognitive performance increased in 6 of the 7 patients with better three-dimensional representation, better understanding of instructions, improved reasoning, attention, and episodic memory. However, the treatment had no impact on the ability to smell. These measures to improve cognitive functions were confirmed by brain imaging conducted by the CHUV Department of Clinical Neurosciences, which revealed a significant increase in functional connectivity.
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