Clinical research will be carried out in GO-DS21 to understand the occurrence of comorbidities in people with Down Syndrome (DS). Since this is a new project, we will seek new ethics licenses, and informed consent will be obtained from the participants. Participants are volunteers for experiments in social or human sciences research. They will be recruited based on Inclusion criteria for the human studies include specific age groups, as set out in WP1. Efforts will be made to include equal numbers of women and men. Participants will not be selected by co-morbidities or ability level, to obtain participation from the broadest range of individuals with DS, and to ensure representativeness of the sample. Participants will be provided with accessible information materials that are adjusted to their cognitive and developmental levels. Caregivers will be also be provided with information materials, before consent is sought as appropriate, either from the participant themselves (if they are deemed to have decision-making capacity) or caregivers (for participants who do not have decision-making capacity, or for minors). We will include both men and women with DS in equal numbers in the studies conducted in WP1 and will give equal opportunity to individuals from different ethnic groups to participate. For in-depth phenotyping studies, we will stratify the sample by sex, and by obesity status.
GO-DS21 follows EU/ local regulation concerning obtaining approval from guardians/ legal representatives. In summary, participants will be provided with accessible information materials that are adjusted to their cognitive and developmental levels. Caregivers will be also be provided with information materials, before consent is sought as appropriate, either from the participant themselves (if they are deemed to have decision-making capacity) or caregivers (for participants who do not have decision-making capacity, or for minors). We will follow EU/ local regulation (e.g. Capacity Act, UK) with regards to consenting individuals who cannot provide consent for themselves. In summary, in adults, these require an assessment of decision-making capacity, and if the participant is deemed not able to provide consent for himself or herself, a caregiver should be consulted for assent or consent on their behalf. For minors, we will follow local guidance; for example, in the UK only individuals aged 16 and older can provide consent for their participation, but younger individuals need to show a willingness to participate and will be provided with age-appropriate information materials. The study and procedures will be explained to them in detail, with the use of pictures, to ensure they are informed.
Consideration will be given to potential risk and benefit to the participant, and whether a participant will need to be able to comply with procedures. Caregivers can be present during procedures. If the participant/s show distress or indicate that they are not able or willing to comply with procedures (such as phlebotomy) the procedure will be abandoned. If safeguarding concerns become known during interviews, local procedures will be followed, and caregivers will be made aware of the researcher’s duties in this regard.
The comorbid conditions being studied, e.g. obesity and thyroid function disorder show a strong age-related or developmental profile, and we, therefore, need to include both children and individuals who cannot consent for themselves. Participants are subject to only minimal risk and burden. The results of the research will benefit the individual or group represented by the participant.
GO-DS21 will seek consent from participants to inform their clinicians of their participation in this study; both the participant and clinician will be informed of any actionable incidental findings (such as hypothyroidism) for further investigation and treatment.
The main invasive procedures that will be required of participants include phlebotomy for blood samples and skin biopsies. This study poses minimal risks to participants. However, there are still issues to consider to minimise possible stress or harm to participants.
Providing a blood sample or skin biopsy is invasive, but is relatively painless. Possible side effects include bleeding, localised bruising, and in the case of skin biopsy, infection. While taking blood samples we will use EMLA cream or similar to reduce any pain experienced by the participant. While taking skin biopsies a local anaesthetic will be given to reduce pain (while this may sting for a few seconds the skin will go numb quickly). A small stitch may then be put into the biopsy site or plaster given to help the skin to heal, and a dressing applied. Skin biopsies are very small but may leave a small scar. These are often barely visible after a few months. Plucking 6-10 hairs from the scalps of participants is also relatively painless, although may cause discomfort to the participant.
While participating in the study may be inconvenient for participants and their parents/carers, we would hope that the tasks used will mainly be enjoyable for the participants to perform. While performing the tasks may be frustrating for participants, we will minimise this by giving participants a break in the middle of the session, in addition to any other breaks which are needed. During the breaks, the participants will be encouraged to engage in a relaxing activity.