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Contact the study team using the details below to take part. If there are no contact details below please ask your doctor in the first instance.
Dr
Andre
Strydom
andre.strydom@kcl.ac.uk
Leda
Bianchi
leda.bianchi@kcl.ac.uk
More information about this study, what is involved and how to take part can be found on the study website.
Chromosomal abnormalities, not elsewhere classified
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Down syndrome (DS) is the genetic manifestation of trisomy of chromosome 21. DS is associated with neuropathological alterations in both neuronal proliferation and differentiation, manifesting in alterations in cognitive and behavioural functioning across the lifespan. DS is also associated with a range of other co-morbidities, including cardiac malformations, endocrine disorders such as hypothyroidism, mental health, vision and hearing issues.
The study of comorbidity patterns in DS will help us understand the development of conditions associated with trisomy 21 during the lifespan. It is an opportunity to explore the underlying causes by which environmental factors such as lifestyle, mental health or response to stress may account for the difference in health issues between DS individuals.
The aim of the project is to identify mechanisms involved in the appearance of specific and potentially related comorbidities (obesity and other metabolic factors, and intellectual disability) in DS. The increased risk to develop this combination of comorbidities in DS, suggests that specific genetic or epigenetic mechanisms associated with trisomy 21 (the cause of DS) predispose to this comorbidity. Beyond the impact for patients with DS we expect that findings of this project may also be beneficial for patients in the general population.
Approximately 300 participants aged 12-45 years with diagnosis of DS will be recruited across centres. Participants will be recruited in three age groups with balanced recruitment by sex: adolescents (12-18 years; n = 100), young adults (19-34 years; n = 100) and middle-age adults (35-45 years; n = 100). In the UK, we will recruit 100 individuals in total.
We will obtain data on associated factors related to body mass index/weight in DS individuals, including cognitive abilities, lifestyle, activity levels, sleep and mental health. These will be gathered through questionnaires completed by caregivers, as well as blood, saliva, hair and skin sample acquisition.
Start dates may differ between countries and research sites. The research team are responsible for keeping the information up-to-date.
The recruitment start and end dates are as follows:
Observational type: Cross-sectional;
You can take part if:
You may not be able to take part if:
1) Comorbid conditions: Participation is allowed as long as health conditions are considered stable and will not interfere with participation in the study. 2) Subjects with evidence of dementia or meeting clinical diagnoses for dementia. 3) Participation in a medication treatment trial in the last 3 months prior to the study, or in a similar study involving completing the cognitive measures used in this project (to prevent learning effects). 4) Confirmed mosaic trisomy 21, partial trisomy 21, or translocation.
Below are the locations for where you can take part in the trial. Please note that not all sites may be open.
Dr
Andre
Strydom
andre.strydom@kcl.ac.uk
Leda
Bianchi
leda.bianchi@kcl.ac.uk
More information about this study, what is involved and how to take part can be found on the study website.
The study is sponsored by King's College London and funded by European Commission .
Your feedback is important to us. It will help us improve the quality of the study information on this site. Please answer both questions.
Read full details
for Trial ID: CPMS 50577
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