Sleep disorders are highly prevalent among people with Down syndrome, yet they often go undiagnosed. Researchers at the Sant Pau Research Institute (IR Sant Pau) are conducting a pioneering study to examine how these disturbances may influence the development of Alzheimer’s disease, aiming to improve early detection and treatment for these patients.
The Sant Pau Alzheimer-Down Unit, in collaboration with New York University, has launched a study using advanced techniques such as polysomnography and central temperature monitoring via a special ingestible capsule. These methods will help analyse how the sleep disturbances and circadian rhythm disruptions may affect Alzheimer’s progression in individuals with Down syndrome.
Dr Lídia Vaqué, a researcher from the Neurobiology of Dementia group at IR Sant Pau, explained: “We know that poor sleep can have a direct impact on neurodegeneration, but we need more data to determine to what extent this can be modified through specific interventions.” The study will also provide long-term monitoring of patients to identify preventive strategies and improve their quality of life.
Sleep disorders are particularly common among people with Down syndrome, yet they frequently go unnoticed. Dr Sandra Giménez, a clinical neurophysiologist specialising in sleep medicine at Sant Pau’s Multidisciplinary Sleep Unit, said: “Sleep disorders in people with Down syndrome are highly prevalent and, unfortunately, frequently overlooked. Sleep apnoea, for example, is one of the most common conditions and can have serious consequences if left undiagnosed and untreated.”
The lack of early detection means that many people with Down syndrome do not receive the appropriate treatment or are wrongly assumed to be unable to tolerate it. However, the team at the Sant Pau Sleep Unit, which also includes Dr Inés Podzmaczer, Dr Vera Lugo and Dr Ana Fortuna, as well as the nursing team, has demonstrated that treatment with continuous positive airway pressure (CPAP) devices is just as effective in this group as in the general population, improving sleep quality and reducing associated risks.
“It is crucial to raise awareness among families and healthcare professionals about these disorders because sleep not only affects daily life but also has long-term health implications,” Dr Giménez added.
The study aims to recruit 60 participants for long-term monitoring of Alzheimer’s biomarkers. Those taking part will undergo a comprehensive sleep assessment, as well as neuropsychological and high-precision brain imaging tests.
The Sant Pau Research Institute is inviting people with Down syndrome and their families to participate in this research, which will not only contribute to scientific knowledge but could also have a direct impact on their quality of life.
For more information on how to take part in the study, please contact the research team at Sant Pau Research Institute.
To mark World Down Syndrome Day, the Jérôme Lejeune Foundation – an international organisation dedicated to research, medical care and the defence of the rights of people with genetic intellectual disabilities – has coordinated an initiative with scientists from the T21 Research Society, a global network of researchers specialising in Down syndrome.
Among the scientists involved are Dr Juan Fortea and Dr Maria Carmona-Iragui, who have highlighted the crucial role of scientific research in improving health outcomes and promoting inclusion for people with Down syndrome.
The initiative points out that, despite scientific advancements increasing life expectancy for this group to around 60 years in some countries, research in the field remains underfunded. In Europe, support is limited compared with the United States, where the INCLUDE programme has allocated over $400 million to Down syndrome research.
Studying conditions such as sleep disorders, autoimmune diseases and Alzheimer’s could lead to major breakthroughs not only for people with Down syndrome but for the wider population. With greater investment and institutional support, research can continue to advance, ensuring a better quality of life and real inclusion for this group.
Sant Pau Research Institute has been a pioneer in Spain, establishing the Alzheimer-Down Unit in December 2014 in collaboration with the Catalan Down Syndrome Foundation. Recognised by the Catalan government, this multidisciplinary unit is a reference centre in Catalonia for neurological conditions associated with Down syndrome, combining clinical and translational research to address the specific needs of this group.
Recently, Sant Pau researchers identified a link between cerebrovascular lesions and the development of Alzheimer’s in people with Down syndrome. This discovery underscores the importance of vascular health in disease progression and could open new avenues for preventive and therapeutic strategies tailored to this population.
