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The Paediatric registrar has been called to the delivery suite by the midwife, who has delivered a baby with the characteristic facial features suggestive of Down syndrome (DS). The diagnosis of DS was noted postnatally. The registrar present wonders if there is a framework for the discussion of this potential diagnosis with the caregivers.
Structured clinical question
In a postnatal diagnosis of DS (population), what specific aspects of communication should be routinely implemented (intervention) which when compared with current reported methods of communication (comparison) provide more support to families (outcome)?
PubMed and MEDLINE were searched in October 2020 for eligible articles regarding Down syndrome using the following search terms: ((Down(s) syndrome OR Trisomy 21 OR partial Trisomy 21 OR mosaicism) AND (neonate OR newborn OR infant OR baby) AND (parent(s) OR family OR families OR mother(s) OR father(s) AND (diagnosis OR perception OR experience OR acceptance)). Titles and abstracts were reviewed, and duplicates were removed. Three hundred thirty-three abstracts were screened, three extracted and one included. Literature was included if it provided recommendations for disclosure of a postnatal diagnosis of DS. Literature was excluded if it was not written in English, or only provided information regarding the disclosure of a prenatal diagnosis of DS. A hand search of the references was also performed, contributing six additional papers. This resulted in the total inclusion of seven papers from both avenues (table 1).
DS or trisomy 21 is a significant contributor to intellectual disability worldwide, with the incidence reported as 10–14.2 per 10 000 live births.1–3 Of these, the incidence of …
Contributors This was an evidence-based student project and so the idea was conceived and planned by the teaching staff in the Paediatrics mentioned on the paper who answered all questions, explained the methodology and reviewed the project and manuscript at multiple timepoints. All the students were involved in the project and collated and analysed the data. KV, SR, DD, FG, DK, EQL, MNSMN: acquisition and analysis of data for the work, drafting the work, revising it critically for important intellectual content, final approval of the version submitted for publication and agreement to be accountable for all aspects of the work. EJM, FMcG, BC (parent representative), CP, EI, NÓC, ER, JM and JA met the criteria above and also were involved in planning the project, formatting and designing the methodology and multiple reviews of the ongoing projects as meetings.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests None declared.
Provenance and peer review Not commissioned; externally peer reviewed.