Howley, Evey;
Soomann, Maarja;
Kreins, Alexandra Y;
(2024)
Parental Engagement in Identifying Information Needs After Newborn Screening for Families of Infants with Suspected Athymia.
Journal of Clinical Immunology
, 44
(3)
, Article 79. 10.1007/s10875-024-01678-w.
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Abstract
Congenital athymia is a rare T-lymphocytopaenic condition, which requires early corrective treatment with thymus transplantation (TT). Athymic patients are increasingly identified through newborn screening (NBS) for severe combined immunodeficiency (SCID). Lack of relatable information resources contributes to challenging patient and family journeys during the diagnostic period following abnormal NBS results. Patient and Public Involvement and Engagement (PPIE) activities, including parental involvement in paediatrics, are valuable initiatives to improve clinical communication and parental information strategies. Parents of infants with suspected athymia were therefore invited to discuss the information they received during the diagnostic period following NBS with the aim to identify parental information needs and targeted strategies to address these adequately. Parents reported that athymia was not considered with them as a possible differential diagnosis until weeks after initial NBS results. Whilst appropriate clinical information about athymia and TT was available upon referral to specialist immunology services, improved access to easy-to-understand information from reliable sources, including from clinical nurse specialists and peer support systems, remained desirable. A roadmap concept, with written or digital information, addressing parental needs in real time during a potentially complex diagnostic journey, was proposed and is transferrable to other inborn errors of immunity (IEI) and rare diseases. This PPIE activity provides insight into the information needs of parents of infants with suspected athymia who are identified through SCID NBS, and highlights the role for PPIE in promoting patient- and family-centred strategies to improve IEI care.
| Type: | Article |
|---|---|
| Title: | Parental Engagement in Identifying Information Needs After Newborn Screening for Families of Infants with Suspected Athymia |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1007/s10875-024-01678-w |
| Publisher version: | http://dx.doi.org/10.1007/s10875-024-01678-w |
| Language: | English |
| Additional information: | © 2024 Springer Nature. This article is licensed under a Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/). |
| Keywords: | Newborn screening, severe combined immunodeficiency, congenital athymia, thymus transplantation, patient and public involvement and engagement |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Infection, Immunity and Inflammation Dept |
| URI: | https://discovery-pp.ucl.ac.uk/id/eprint/10196459 |
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