A hope of treatment to improve the cognitive functions of trisomy 21 carriers

A way to improve the cognitive abilities of people with trisomy 21? Work, carried out by the endocrinology, diabetology and metabolism department at the Vaudois University Hospital Center (ChuV) in Lausanne, jointly with the team of Vincent Prévot, head of the Neurosciences & cognition laboratory (Inserm/University of Lille, Lille University Hospital), evaluated a treatment based on the GnRH hormone, called gonadotropin, to measure its effects on cognition. Secreted by the hypothalamus, it is known to regulate adult reproductive function.

The results, published in the journal Science of September 2, were qualified as “promising” by Nelly Pitteloud, the head of the ChuV service during their presentation to the press on August 31. But they are however “to be considered with great caution”said this specialist, co-author of the publication.

Caused by a supernumerary chromosome, trisomy 21 is the leading cause of intellectual disability. It is characterized by an early decline cognitive abilities, such as Alzheimer’s disease, and often associated with olfactory disorders – but also with a lack of sexual maturation in men.

Read also: Article reserved for our subscribers The death of Marthe Gautier, discoverer of the chromosome at the origin of trisomy 21

Using a “down syndrome mouse” model, the Lille team first demonstrated that “Cognitive and olfactory impairments were closely linked to dysfunctional GnRH secretion”. Therapies restoring the function of this hormone improved both functions. Vincent Prévot then contacted Nelly Pitteloud’s team, which is working on the treatment of congenital GnRH deficiency. They tested the GnRH treatment in seven men with Down syndrome, aged 20 to 50. The latter received for six months a dose of the hormone every two hours, subcutaneously, using a pump placed on the arm, in a pulsed manner – like the insulin pump – mimicking natural GnRH secretion. “The treatment was well tolerated. No adverse effects have been demonstrated”says Professor Pitteloud.

In practice, the participants underwent neuropsychological tests before and after the six months of treatment, using Moca (Montreal cognitive assessment), a one-page quiz with questions about memory, language, abstraction…

An improvement in cognitive abilities (visuo-spatial function, executive functions, attention) was observed in 6 of the 7 patients. On the other hand, no progress was noted in the olfactory tests. Brain imaging data also showed better neural connections, especially in visual and sensorimotor regions.

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