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.