The Department of Paediatric Cardiology, Royal Belfast Hospital for Sick Children is partnering with Ulster University to highlight issues affecting children and adults with Down Syndrome. This research is supported by the Downs Syndrome Association and the Children’s Heartbeat Trust.
Projects
There are 3 projects within this research and each one is led by a researcher from Ulster University.
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Project 1: Exploring the Development and Wellbeing of Children (aged 5 to 12 years) with Down Syndrome and Congenital Heart Disease (CHD)
PhD Researcher: Kiai Chambers
Supervisors: Prof. Frank Casey, Prof. Victoria Simms, Dr. Brian McCrossan, and Prof. Laurence Taggart.
What is this project about?
We want to explore the development and wellbeing of children with Down Syndrome who also have congenital heart disease (CHD). People with Down syndrome who do not have congenital heart disease can also take part!
From previous research, we know that people with Down syndrome can experience difficulties in some areas of their development. People with CHD face similar difficulties. We want to explore how having both Down syndrome and CHD might impact a person’s development.
A unique element of our project is to speak directly with people with Down Syndrome who are often not invited to take part in research. We want to change this.
How do we aim to do this?
This project will have two stages.
In stage one, parents/caregivers will be invited to complete an online survey which explores the physical, psychological, and social development of their child. The parent/caregivers’ own psychological wellbeing will also be explored. All of this will be assessed using a series of validated psychological questionnaires.
In stage two, we will explore the subjective wellbeing of children with Down Syndrome by working with them directly.
To do this, we would like to complete a Photovoice project with the child with Down Syndrome. The child and their parent/caregiver will attend an online introductory session where the Photovoice technique will be explained. A brief overview of what wellbeing means will also be provided.
Following this, the child will be asked to go home and take photos related to their wellbeing using prompts provided by the research team. After 4 weeks, the child will return their photographs and be asked to take part in individual interviews. Here, we will discuss their own thoughts and feelings about their wellbeing.
At the end of the project, the child and their parent/caregiver will be invited to take part in a showcase event where their photography will be on display.
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Project 2: Exploring the Development and Wellbeing of Adolescents and Young People with Down syndrome and Congenital Heart Disease (CHD).
PhD Researcher: Aoife Grenham McNamee
Supervisors: Prof. Frank Casey, Prof. Victoria Simms, Dr. Brian McCrossan, and Prof. Nicola Casey.
What is this project about?
Alongside the first project focusing on children, we want to explore the development and wellbeing of adolescents and young people with Down syndrome.
Like in the first project, we also want to actively include adolescents and young people with Down syndrome in research relevant to them.
How do we aim to do this?
This project has two stages.
In stage one, parents/caregivers of adolescents and young people with Down syndrome will be invited to complete an online survey. This survey will include a series of validated psychological questionnaires. These questionnaires assess different aspects of the adolescent or young person with Down syndrome’s physical and psychological development. Parent/caregivers own psychological functioning will also be assessed using validated psychological questionnaires.
In the second stage, we want to hear directly from the adolescents and young people with Down syndrome. They will have an opportunity to be actively involved in research by sharing their opinion on their wellbeing with us.
To do this, the adolescent or young person will be invited to meet with our research team. We will work together to fill out a questionnaire on their subjective wellbeing. This questionnaire has been adapted to be accessible for people with Down syndrome. We will also use communication aids to support their understanding.
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Project 3: Improving life expectancy and quality of life for children born with Down syndrome, developing best practice guidelines in response to changing patterns in diagnosis, treatment and survival.
MD Researcher: Dr Orla Megraw
Research Associate: Dr Deepika Herath
Supervisors: Prof. Frank Casey, Dr. Brian McCrossan, and Prof. Laurence Taggart.
What is this project about?
The care and outcomes for those with Down Syndrome have improved significantly in the past generation however we believe that there is still room for improvement.
We want to evaluate long term survival, medical co-morbidities and education and employment outcomes of people with Down Syndrome and how these have changed over time and develop best practice guidelines, including screening, for the care of children born with Down Syndrome.
Recent research highlighted that "Population-based, longitudinal, large-scale cohort studies following individuals with DS would be helpful to the further understanding of the co-occurring medical conditions, family attitudes, educational achievement, individual experiences, and societal successes that now exist for individuals with DS”.
How do we aim to do this?
There are 3 elements of this project.
Database: The Paediatric Cardiology Department at Royal Belfast Hospital for Sick Children (RBHSC) have a comprehensive database of every child born in the region with a diagnosis of Down Syndrome from 1990-2023. This contains over 1450 people with Down Syndrome and information on their cardiac diagnosis.
As part of this project, the database will be expanded to include information on surgical outcomes, co-morbidities and mortality with particular focus on which medical co-morbidities are associated with increased mortality. Medical co-morbidities, which will be reviewed on the Northern Ireland Electronic Care Record (ECR), include pulmonary hypertension, obstructive sleep apnoea, epilepsy, hypothyroidism, coeliac disease, learning difficulties, autism, ADHD, hearing impairment, visual impairment, duodenal atresia, transient leukaemia of DS, arthritis, atlantoaxial instability otitis media with effusion, reflux, depression, diabetes, anaemia, increased susceptibility to infection and dementia.
Co-morbidity screening will also include determining if people with Down Syndrome are being adequately screened for their co-morbid conditions. Ultimately we would like to develop a ‘live database’ which highlights when routine investigations are due.
Questionnaire
A participant information sheet with QR code link to an anonymous online questionnaire will be posted to all 1450 of those with Down Syndrome and their parents / carers. The questionnaire will include questions on family life, education, employment, hobbies, exercise levels and quality of life. The questionnaire has been developed by the research team based upon the international literature.
This social information will be linked back to the participant’s medical data using date of birth and postcode, if consent is obtained. The research team in the paediatric cardiology department, at Belfast HSCT, will link this data together on a secure database to assess which health issues most influence outcomes. Once this has happened the data will then be used confidentially for research.
‘GeneActiv’ Activity Monitor
A subset of the group, aged 11-21 years will be chosen to wear a ‘GENEActiv’ device to compare reported and actual levels of activity. These individuals will be selected at random if they indicate they would be agreeable to this on the initial questionnaire. The GENEActiv device is a wrist worn activity monitor device which will be worn during waking hours for 1 week. This data will be reviewed to determine the effect of activity levels on co-morbidities and outcomes.
Why are these research projects important?
These projects are important as they will provide an overview of the health and development of people with Down syndrome. This will help to identify areas where people with Down syndrome and their families may require additional support.
These projects give people with Down syndrome the chance to be actively involved in research. By having the voice of the person with Down Syndrome at the heart of the research, we can ensure that their voices and opinions are taken into consideration.
These findings can also help to educate clinicians and policy makers on the realities of being or raising a person with Down Syndrome. From there, we can create evidence-based care guidelines to support people with Down syndrome and their families to reach their full potential. We hope that this work will lead to improvements in medical and nursing care and services available for children and adults with Down Syndrome and in turn improve quality of life.
Add your voice to the research study
The study is being conducted as part of the MD project of one of the researchers, Dr Orla Megraw. The study aims to develop a database for children and adults with Down Syndrome to help:
- Describe the range of health issues
- Demonstrate whether the health service is providing the recommended assessments and treatments
- Determine which issues influence health outcomes as well as quality of life.
We hope this will lead to improvements in medical and nursing care and services available for children and adults with Down Syndrome and identify the issues which are important to you.
Please read the information sheet before starting the questionnaire as it will go through the study in more detail and hopefully answer any questions you may have.
At the beginning of the questionnaire, you will be asked to sign a consent form showing you agree to take part. The questionnaire will take approximately 30 minutes to complete. This study is completely voluntary, and you are under no obligation to take part.
If you’d prefer to receive a paper version of the survey, please email Prof. Frank Casey (frank.casey@belfasttrust.hscni.net) and we will post you out a paper version
Questionnaire Information
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What is the purpose of the study
As you know Down syndrome is a genetic disorder that occurs when an individual has a full or partial extra copy of chromosome 21. Although the care and outcomes for those with Down Syndrome have improved significantly in the past generation we believe that there is still room for improvement.
We are hoping to develop a database for children and adults with Down Syndrome to help:
- Describe the range of health issues
- Demonstrate whether the health service is providing the recommended assessments and treatments
- Determine which issues influence health outcomes as well as quality of life.
We hope this will lead to improvements in medical and nursing care and services available for children and adults with Down Syndrome.
We plan to study medical and educational outcomes as well quality of life, and how these have changed. This is part of a post graduate medical doctorate project. We want to use this information to be able to issue recommendations and guidelines to health care providers, to bring about improvements that will help optimise the quality of life for those born with Down Syndrome
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Why have I been chosen?
In addition to this database we are sending an electronic questionnaire to everyone born in NI from 1990 to 2023 with Down Syndrome, approximately 1400 people. This is for completion by you as a parent / guardian with assistance from your child or young person with Down Syndrome if appropriate. We would be very grateful if you could complete this. In this study we hope that by engaging with individuals with Down Syndrome and their families we will identify the key issues relevant to them.
Questionnaires are confidential and will cover non-medical areas such as family life, education, employment and hobbies.
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Do I have to take part?
It is up to you to decide whether or not to take part. Participation is limited to the completion of the questionnaire once only. This should take around 30 minutes to complete. If you do not wish to participate then do not complete the questionnaire. This will not affect medical care in any way. You are free to leave the questionnaire at any time. Unless you reach the end and press submit, none of the data will be sent to the research team. If you have changed your mind regarding consent, please email the research team on the contact details below.
This questionnaire is completely confidential and is stored securely in keeping with GDPR. However we are asking for date of birth and postcode of the individual with Down Syndrome to ensure that inaccurate data is not entered into the database.
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What do I have to do?
At the beginning of the questionnaire you will be asked questions about consent.
There will be a question asking if you consent for linking of the answers you give in the questionnaire to the individual with Down Syndrome’s medical data using date of birth and postcode. In order to assess which health issues most influence outcomes we need to perform research by connecting the answers in the questionnaire to medical data already stored on Health Service databases. We are asking your permission for doctors in the paediatric cardiology department, at Belfast HSCT, to link this data together on a secure database.
Once this has happened the data will then be made more confidential with removal of name and health and care number before transfer to a secure, GDPR compliant, database held in Ulster University. Post code and date of birth will remain for transfer. Linking your answers with the medical database is crucial in helping us find answers to the questions posed in this research project.
Once you have completed the consent section, the online questionnaire will appear. There are approximately 45 questions.
If you’d prefer to receive a paper version of the survey, please email Prof. Frank Casey (frank.casey@belfasttrust.hscni.net) and we will post you out a paper version.
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Are there any possible benefits to taking part?
It is hoped that the questionnaire information will benefit those with Down Syndrome in the future by improving care and survival. If your child or young person with Down Syndrome has not had timely screening for a co-morbidity associated with Down Syndrome, this will become evident as part of the study and this can be highlighted to their GP or community paediatrician, if you give consent.
We hope that by identifying the gaps in care for people with Down Syndrome, we can encourage policy changes and influence funding decisions.
The ultimate objective of this study is to provide information which may help advocate for children and adults with Down syndrome.
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Are there any associated risks?
There is no risk to you by participating in this study. Data will be held securely and is non – identifiable.
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Who is organising and funding the research?
The study has been designed by the Department of Paediatric Cardiology, Royal Belfast Hospital for Sick Children in association with Ulster University. The study is also supported by the Downs Syndrome Association, Foyle Down Syndrome Trust and the Children’s Heartbeat Trust. The research is being funded by Ulster University.
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What happens to the results of the study?
At the end of the study, results will be publicised via these voluntary groups, at a public event and potentially also in medical journals. Any identifiers will be removed prior to publication
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Who has reviewed the study?
The study has been peer reviewed and had ethical approval from Ulster University School of Biomedical Sciences Ethics Filter Committee and HSC REC A committee.
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Independent Point of Contact for Complaints
Should you have any compliants associated with the study please contact: Elaine Bell, Research Governance Officer, Ulster University - e.bell2@ulster.ac.uk
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GDPR
Ulster University is the managing organisation for this study, and the research team will follow the University’s policies regarding GDPR and handling your data. You can find out more about how your data is looked after by reading the Ulster University Privacy notice.
If you wish to raise a complaint on how the research team have handled your personal data, you can contact Ulster University’s Data Protection Officer who will investigate the matter. Ulster University’s Data Protection Officer is Clare Jamison; you can contact her at c.jamison@ulster.ac.uk
Project Lead Investigator
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