Aalders, J., Hartman, E., Pouwer, F., et al. (2021) ‘The division and transfer of care responsibilities in paediatric type 1 diabetes: A qualitative study on parental perspectives’, Journal of Advanced Nursing, 77, pp.1968–1979. doi:10.1111/jan.14781.
Allen, D., Cohen, D., Hood, K., Robling, M., Atwell, C., Lane, C., Lowes, L., Channon, S., Gillespie, D., Groves, S., Harvey, J. and Gregory, J. (2012) ‘Continuity of care in the transition from child to adult diabetes services: a realistic evaluation study’, Journal of Health Services Research & Policy, 17(3), pp.140–148.
Ball, J., Bindler, R., Cowen, K. and Shaw, M.R. (2019) Child health nursing: Partnering with children and families. 3rd ed. London: Pearson.
Berg, A., Caplan, R., Baca, C. and Vickrey, B. (2013) ‘Adaptive behaviour and later school achievement in children with early-onset epilepsy’, Developmental Medicine & Child Neurology, 55(7), pp.661–667.
British Medical Association (2017–2018) British National Formulary for Children (BNFC). London: BMJ Publishing Group Ltd.
Brook, D.C. and Dattani, M. (2012) Handbook of paediatric clinical endocrinology. Chichester: Wiley-Blackwell.
Burton, M., Pavord, E. and Williams, B. (2014) An introduction to child and adolescent mental health. London: Sage Publications.
Chisholm, V., Atkinson, L., Donaldson, C., Noyes, K., Payne, A. and Kelnar, C. (2011) ‘Maternal communication style, problem solving and dietary adherence in young children with type 1 diabetes’, Clinical Child Psychology & Psychiatry, 16(3), pp.443–458.
Davies, A.M. and Davies, R.E. (2017) Children and young people’s nursing: Principles for practice. 2nd ed. Boca Raton: CRC Press Taylor & Francis Group.
Department of Health (DOH) (2014) National rare disease plan for Ireland 2014–2018. Dublin: Hawkins House.
Dlugatch, R., Rankin, D., Evans, M., Oliver, N., Ng, S.M. and Lawton, J. (2025) ‘Improving access to diabetes technologies in children and young people with type 1 diabetes: Healthcare professionals' perspectives and views’, Diabetic Medicine, 42, e70058. doi:10.1111/dme.70058.
Dogra, N. and Leighton, S. (2011) Nursing in child and adolescent mental health. Berkshire: McGraw-Hill Open University Press.
Doody, O., Slevin, E. and Taggart, L. (2017) ‘Families’ perceptions of the contribution of intellectual disability clinical nurse specialists (ID-CNSs) in Ireland’, Journal of Clinical Nursing, 27(1–2), pp.e80–e90. doi:10.1111/jocn.13873.
Dougherty, L. and Lister, S. (2015) The Royal Marsden Hospital manual of clinical nursing procedures: Student edition. 8th ed. Chichester: Wiley-Blackwell.
Ford, S., O’Driscoll, M. and MacDonald, A. (2018) ‘Reproductive experience of women living with phenylketonuria’, Molecular Genetics and Metabolism Reports, 17, pp.64–68. doi:10.1016/j.ymgmr.2018.09.008.
Glenn, D. (2015) ‘Using online health communication to manage chronic sorrow: Mothers of children with rare diseases speak’, Journal of Pediatric Nursing, 30, pp.17–24.
Health Service Executive (HSE) (2022) A practical guide to newborn bloodspot screening in Ireland. 9th ed. Dublin: Children’s Health Ireland.
Hockenberry, M., Wilson, D. and Rodgers, C. (2016). Essentials of pediatric nursing. 10th ed. St. Louis, MO: Mosby.
Hoffmann, G.F., Zschocke, J. and Nyhan, W.L. (2016) Inherited metabolic diseases: A clinical approach. Berlin: Springer.
Hoytema van Konijnenburg, E.M., et al. (2021) ‘Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital app’, Orphanet Journal of Rare Diseases, 16(1). doi:10.1186/s13023-021-01727-2.
Kaufman, L., Ayub, M. and Vincent, J.B. (2010) ‘The genetic basis of non-syndromic intellectual disability: A review’, Journal of Neurodevelopmental Disorders, 2(4), pp.182–209. doi:10.1007/s11689-010-9055-2.
Lambert, V., Long, T. and Kelleher, D. (2012) Communication skills for children’s nurses. Maidenhead: McGraw-Hill Open University Press.
Macqueen, S., Bruce, E.A. and Gibson, F. (eds.) (2012) The Great Ormond Street Hospital manual of children’s nursing practices. Chichester: Wiley-Blackwell.
Malcolm, C., Hain, R., Gibson, F., Adams, S., Anderson, G. and Forbat, L. (2012) ‘Challenging symptoms in children with rare life-limiting conditions (LLCs): Findings from a prospective diary and interview study with families’, Acta Paediatrica, 101(9), pp.985–992.
McGarvey, B. and Hart, C. (2008) An investigation into the social support needs of families who experience rare disorders on the island of Ireland. Dublin.
McPherson, A.C., Swift, J.A., Peters, M., Lyons, J., Knibbe, T.J., Church, P., Chen, L., Farrell, R.M. and Gorter, J.W. (2016) ‘Communicating about obesity and weight-related topics with children with a physical disability and their families: Spina bifida as an example’, Disability and Rehabilitation, pp.1–7.
Ng, S.M., Lay, J.T., Regan, F., Soni, A., Wright, N., Agwu, J.C., Williams, E., Timmis, A., Kershaw, M., Moudiotis, C. and Drew, J. (2020) ‘Variations in diabetes transition care for children and young people: A national survey’, Diabetic Medicine, 37, pp.1407–1409. doi:10.1111/dme.14336.
O’Byrne, J.J., et al. (2016) ‘Unexplained developmental delay/learning disability: Guidelines for best practice protocol for first-line assessment and genetic/metabolic/radiological investigations’, Irish Journal of Medical Science, 185, pp.241–248.
O’Connor, C. (2004) ‘When a child is born with galactosaemia’, World of Irish Nursing, 12(10), pp.39–40.
Pollock, A.J., Beaton, W.N., Burgess, B.A., et al. (2023) ‘Diabetes in School Health (DiSH): Telementoring collaboration between pediatric diabetes specialists and school nurses to improve care of children with diabetes’, The Journal of School Nursing, 41(3), pp.390–397. doi:10.1177/10598405231181351.
Rahgoi, A., Sojoodi, T., Fallahi Khoshknab, M., Rahgozar, M. and Shahshahani, S. (2019) ‘Effects of empowerment program on the burden of care in mothers of children with phenylketonuria’, Iranian Journal of Child Neurology, 13(2), pp.53–60.
Royal College of Paediatrics and Child Health (RCPCH) (2020) National paediatric diabetes audit. London: RCPCH. Available at: https://www.rcpch.ac.uk/work-we-do/quality-improvement-patient-safety/national-paediatric-diabetes-audit [Accessed 15 October 2020].
Smith, A. and Forbes, E. (2011) ‘Treatment for life – metabolic disorders’, World of Irish Nursing, 12(11), pp.39–40.
Somanadhan, S. and Larkin, P.J. (2016) ‘Parents’ experiences of living with, and caring for children, adolescents and young adults with Mucopolysaccharidosis (MPS)’, Orphanet Journal of Rare Diseases, 11, p.138. doi:10.1186/s13023-016-0521-0.
Somanadhan, S., Brinkley, A. and Larkin, P.J. (2021) ‘Living through liminality? Situating the transitional experience of parents of children with mucopolysaccharidoses, Scandinavian Journal of Caring Sciences, 00, pp.1–11. doi:10.1111/scs.13026.
Somanadhan, S., Bristow, H., Crushell, E., et al. (2021) ‘IMPACT study: Measuring the impact of caregiving on families and healthcare professionals of children and adults living with mucopolysaccharidoses in Ireland’, Therapeutic Advances in Rare Disease, May. doi:10.1177/26330040211020764.
Somanadhan, S., Nicholson, E., Dorris, E., et al. (2020) ‘Rare Disease Research Partnership (RAinDRoP): A collaborative approach to identify research priorities for rare diseases in Ireland’, HRB Open Research, 3, p.13. doi:10.12688/hrbopenres.13017.2.
Somanadhan, S., Johnson, N.L., Gilroy, B.S., Lawlor, A. and Vockley, J. (2023) ‘Intellectual and developmental disabilities and rare diseases’, in Sheerin, F. and Doyle, C. (eds.) Intellectual disabilities: Health and social care across the lifespan. Cham: Springer. doi:10.1007/978-3-031-27496-1_7.
Somanadhan, S., O’Donnell, R., Bracken, S., McNulty, S., Sweeney, A., O’Toole, D., Rogers, Y., Flynn, C., Awan, A., Baker, M., O’Neill, A., McAneney, H., Gibbs, L., Larkin, P. and Kroll, T. (2023) ‘Children and young people's experiences of living with rare diseases: An integrative review’, Journal of Pediatric Nursing, 68, pp.e16–e26. doi:10.1016/j.pedn.2022.10.014.
Souza, P., Antunes, A., Carvalho, J. and Casey, A. (2013) ‘Parental perspectives on negotiation of their child’s care in hospital’, Nursing Children and Young People, 25(2), pp.24–28.
Stuart, M. and Melling, S. (2014) ‘Understanding nurses’ and parents’ perspectives of family-centred care’, Nursing Children and Young People, 26(7), pp.16–20.
Tallon, M., Kendall, G.E. and Snider, P. (2015) ‘Rethinking family-centred care for the child and family in the hospital’, Journal of Clinical Nursing, 24, pp.1426–1435.
Therrell, B.L., Padilla, C.D., Borrajo, G.J.C., Khneisser, I., Schielen, P.C.J.I., Knight-Madden, J., Malherbe, H.L. and Kase, M. (2024) ‘Current status of newborn bloodspot screening worldwide 2024: A comprehensive review of recent activities (2020–2023)’, International Journal of Neonatal Screening, 10(2), p.38. doi:10.3390/ijns10020038.