Summary

Background:

Down syndrome continues to be the most common chromosomal disorder with an incidence of approximately 1 in 700 births. Forty five percent of those born with Down Syndrome (DS) will have Congenital heart disease (CHD) and many will require surgical treatment. Immediate surgical outcomes have improved dramatically, but there are very few studies of longterm Quality of Life and broader developmental outcomes in this group.

The Paediatric Cardiology Department at The Royal Belfast Hospital for Sick Children (RBHSC) manages the acute cardiac care and long term follow-up of all children born with DS and CHD in Northern Ireland. This gives a unique opportunity to ascertain complete follow-up information on the whole population with DS born in the region.

The research team have extensive experience and a strong track record in publishing research relating to Quality of Life outcomes in children with CHD and broader developmental outcomes.

Main Research Questions:

1. What is long term Quality of Life for this patient group as measured by:

(a) Physical well-being

(b) Psychosocial well-being

(c) Educational attainment

(d) Employment (where applicable)

2. In addition, what is the impact of these factors on family functioning?

Methods and Study Sample.

The Paediatric Cardiology Department at RBHSC has a comprehensive registry of all children born in Northern Ireland with DS.. This registry extends from 1990 to the present time and has details on approximately 1075 patients. This will therefore be the largest study to date of Quality of LIfe in those born with DS.

Study participants will be identified from the registry and will have a comprehensive assessment to include measures of physical well-being, psychosocial well-being and educational attainment. The medical assessment will evaluate current cardiac status and measures of activity and exercise participation.

The study methods will include Health Related Quality Of Life (HRQOL) assessment, and measures of psychosocial (Strengths and Difficulties questionnaire) and educational outcomes. The Impact on Family (IoF) scale will also be used to assess wider impact on family functioning.

The final study design will be constructed with the participation of the Children’s Heartbeat Trust, which is the parent support group for families affected by CHD in Northern Ireland, and also in consultation with the Down Syndrome Association.

Impact:

  1. Provide long-term outcome evaluating benefits of medical treatment on a large and unique patient cohort.
  2. Highlight areas for improvement in the medical, psychosocial and educational support provided to those born with DS.
  3. Devise strategies to optimise care and quality of life outcomes for this patient group.

Desirable: Background in Paediatric Cardiology, General or Community Paediatrics, Learning Disability, Nursing or Educational/Clinical Psychology


AccessNI clearance required

Please note, the successful candidate will be required to obtain AccessNI clearance prior to registration due to the nature of the project.


Essential criteria

Applicants should hold, or expect to obtain, a First or Upper Second Class Honours Degree in a subject relevant to the proposed area of study.

We may also consider applications from those who hold equivalent qualifications, for example, a Lower Second Class Honours Degree plus a Master’s Degree with Distinction.

In exceptional circumstances, the University may consider a portfolio of evidence from applicants who have appropriate professional experience which is equivalent to the learning outcomes of an Honours degree in lieu of academic qualifications.


Funding and eligibility

The University offers the following levels of support:

Vice Chancellors Research Studentship (VCRS)

Full award (full-time PhD fees + DfE level of maintenance grant + RTSG for 3 years).

This scholarship will cover full-time PhD tuition fees and provide the recipient with £16,062 (tbc) maintenance grant per annum for three years (subject to satisfactory academic performance). This scholarship also comes with £900 per annum for three years as a research training support grant (RTSG) allocation to help support the PhD researcher.

Applicants who already hold a doctoral degree or who have been registered on a programme of research leading to the award of a doctoral degree on a full-time basis for more than one year (or part-time equivalent) are NOT eligible to apply for an award.

Vice-Chancellor’s Research Bursary (VCRB)

Part award (full-time PhD fees + 50% DfE level of maintenance grant + RTSG for 3 years).

This scholarship will cover full-time PhD tuition fees and provide the recipient with £8,000 maintenance grant per annum for three years (subject to satisfactory academic performance). This scholarship also comes with £900 per annum for three years as a research training support grant (RTSG) allocation to help support the PhD researcher.

Applicants who already hold a doctoral degree or who have been registered on a programme of research leading to the award of a doctoral degree on a full-time basis for more than one year (or part-time equivalent) are NOT eligible to apply for an award.

Vice-Chancellor’s Research Fees Bursary (VCRFB)

Fees only award (PhD fees + RTSG for 3 years).

This scholarship will cover full-time PhD tuition fees for three years (subject to satisfactory academic performance). This scholarship also comes with £900 per annum for three years as a research training support grant (RTSG) allocation to help support the PhD researcher.

Applicants who already hold a doctoral degree or who have been registered on a programme of research leading to the award of a doctoral degree on a full-time basis for more than one year (or part-time equivalent) are NOT eligible to apply for an award.

Department for the Economy (DFE)

The scholarship will cover tuition fees at the Home rate and a maintenance allowance of £16,062 (tbc) per annum for three years (subject to satisfactory academic performance). This scholarship also comes with £900 per annum for three years as a research training support grant (RTSG) allocation to help support the PhD researcher.

  • Candidates with pre-settled or settled status under the EU Settlement Scheme, who also satisfy a three year residency requirement in the UK prior to the start of the course for which a Studentship is held MAY receive a Studentship covering fees and maintenance.
  • Republic of Ireland (ROI) nationals who satisfy three years’ residency in the UK prior to the start of the course MAY receive a Studentship covering fees and maintenance (ROI nationals don’t need to have pre-settled or settled status under the EU Settlement Scheme to qualify).
  • Other non-ROI EU applicants are ‘International’ are not eligible for this source of funding.
  • Applicants who already hold a doctoral degree or who have been registered on a programme of research leading to the award of a doctoral degree on a full-time basis for more than one year (or part-time equivalent) are NOT eligible to apply for an award.

Due consideration should be given to financing your studies. Further information on cost of living


Recommended reading

Opportunities, barriers, and recommendations in down syndrome research James A Hendrix, Angelika Amon, Leonard Abbeduto et al Transl Sci Rare Dis 2021;5(3-4):99-129

Cardiovascular disease in Down syndrome. Versacci P, Di Carlo D, Digilio MC, Marino B. Curr Opin Pediatr. 2018 Oct;30(5):616-622

An investigation of the determinants of quality of life in adolescents and young adults with Down syndrome. Haddad F, Bourke J, Wong K, Leonard H. PLoS One. 2018 Jun 13;13(6)

The effect of exercise intervention on daily life activities and social participation in individuals with Down syndrome: A systematic review. Hardee JP, Fetters L. Res Dev Disabil. 2017 Mar;62:81-103

[Quality of Life in Children with Down Syndrome from Parental Point of View]. Sarimski K. Prax Kinderpsychol Kinderpsychiatr. 2019 Sep;68(6):525-539.

Family Variables and Quality of Life in Children with Down Syndrome: A Scoping Review. Lee A, Knafl K, Van Riper M. Int J Environ Res Public Health. 2021

Quality of life in Down syndrome: a matter of perspective. Newton R. Dev Med Child Neurol. 2018 Apr;60(4):337-338

The prevalence of congenital anomalies in Europe. Dolk H, Loane M, Garne E. Adv Exp Med Biol. 2010;686:349-64

Neurodevelopmental Outcomes Among Children With Congenital Heart Disease: At-Risk Populations and Modifiable Risk Factors. Ryan KR, Jones MB, Allen KY, Marino BS, Casey F, Wernovsky G, Lisanti AJ. World J Pediatr Congenit Heart Surg. 2019 Nov;10(6):750-758.

Exercise prescription improves exercise tolerance in young children with CHD: a randomised clinical trial. Callaghan S, Morrison ML, McKeown PP, Tennyson C, Sands AJ, McCrossan B, Grant B, Craig BG, Casey FA. Open Heart. 2021 May;8(1)

Exercise training improves activity in adolescents with congenital heart disease. Morrison ML, Sands AJ, McCusker CG, McKeown PP, McMahon M, Gordon J, Grant B, Craig BG, Casey FA. Heart. 2013 Aug;99(15):1122-8.


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