Press release - September 17, 2024

Study shows for the first time that it is possible to improve the neurocognitive development of children with Down syndrome

The clinical research was conducted by the Jérôme Lejeune Institute, the medical, research and training center of the Jérôme Lejeune Foundation, the parent foundation of the Jérôme Lejeune Foundation USA, in collaboration with the Necker-Enfants Malades Hospital, in Paris.

The Jérôme Lejeune Foundation USA is pleased to announce that the results of the Respire 21 clinical study, conducted since 2017 by the Jérôme Lejeune Institute and the Necker-Enfants Malades Hospital, based in Paris, have been published in the Lancet Regional Health – Europe. This study demonstrates that a very early diagnosis of Obstructive Sleep Apnea Syndrome (OSA) and its treatment, if necessary, improve the neurocognitive and behavioral development of young children with Down syndrome.

The study involves a group of 40 children with Down syndrome, who benefited from early and systematic detection of OSA via an initial sleep exploration, by home polysomnography every 6 months (5 in total), from the age of 6 months to 3 years. This sample was compared to a control group of 40 other children with Down syndrome who had a single polysomnography at the age of 36 months, in accordance with the international recommendations currently in force.

The results confirm the prevalence of 97% of OSA in patients aged 6 months, of which 54% of cases are of moderate or severe intensity. With treatment, OSA severity is significantly reduced, resulting in statistically significant improvements in sleep quality and architecture, as well as neurocognitive and behavioral development in these children, compared to the control group. The conclusions of this study are very encouraging for the improvement of the quality of life of people with Down syndrome.

For Clotilde Mircher, geneticist and head of the consultation department at the Jérôme Lejeune Institute, the results are in favour of a real benefit on the neurocognitive development of children, "children who are screened and, if necessary, treated have a Developmental Quotient that is 4 points higher than children who are not screened, who have usual follow-up. Although this difference is statistically significant, the question of its clinical impact still remains open. Guillaume Duriez, Director General of the Jérôme Lejeune Institute, points out: "These are very encouraging prospects for all families because, thanks to them, children with Down syndrome could access a better quality of life. ".

These results should help to adjust the international recommendations which, for children with Down syndrome, currently recommend screening for sleep apnea between the ages of 3 and 4. "We need to change practices: screening should start earlier, before the age of 1," explains Professor Brigitte Fauroux, scientific leader of the study and head of the Functional Unit for Non-Invasive Ventilation and Child Sleep at Necker Hospital.

The study was entirely funded by the Jérôme Lejeune Foundation, the parent foundation of the Jérôme Lejeune Foundation USA, thanks to its French donors, to the tune of €831,000. It was also possible to achieve it thanks to the participation of patients.

It validates the research strategy of the Jérôme Lejeune Foundation, inspired by the intuition of Prof. Jérôme Lejeune, according to which it is possible to improve the cognition of people with Down syndrome.

It also illustrates the value of collaborative research.

Finally, this success confirms the relevance of the Jérôme Lejeune Foundation's care centre model: the fundamental link between care and research; and the importance of preventive medicine, where specialized, comprehensive and personalized medical care and regular follow-up are essential to detect and treat crossover disabilities such as OSA.

About the Jérôme Lejeune Foundation

The Jérôme Lejeune Foundation is the world's leading private funder of research on
trisomy 21 (Down syndrome). Recognized as a public utility since 1996, it acts for people with Down syndrome or another intellectual disability of genetic origin through its three missions: research, care and advocacy. In 30 years, it has supported more than 900 research projects in 24 countries, for a total amount of 75 million euros. It is present in France, where its headquarters are located, in Spain, Argentina and the United States.

The Jérôme Lejeune Institute, based in Paris, is the care, research and training center specializing in intellectual disabilities of genetic origin, including Down syndrome, of the Jérôme Lejeune Foundation, and European leader in this field. Thanks to a multidisciplinary team, it has provided medical follow-up to nearly 13,000 patients throughout their lives since its creation. 4,500 patients are being cared for in 2024 alone. A pioneer in Down syndrome research, the Foundation is involved in some fifteen programs, including several therapeutic studies, as a sponsor or research center.

About the Non-Invasive Ventilation and Child Sleep Unit at the Necker Children's Hospital

The Necker-Enfants Malades Hospital, and more specifically the Non-Invasive Ventilation and Sleep Unit for Children, directed by Professor Brigitte Fauroux, is a nationally and internationally recognized center of excellence for sleep-disordered breathing in children and their treatment, particularly in children with genetic diseases and/or rare diseases.

PRESS CONTACTS

Jérôme Lejeune Foundation US

Denise Shillue

dshillue@lejeunefoundation.org

1+917-359-8484

Jérôme Lejeune Institute France

Hervé Walti

herve.walti@institutlejeune.org

1+418-265-8945