Feeding issues in children with chromosome 18 abnormalities

R.C.R. Davison*

*Corresponding author for this work

Research output: Contribution to conferencePosterpeer-review


Background: Like most rare genetic conditions diagnosis and treatment are hindered by a lack of detailed knowledge of the typical characteristics which arise from the genetic abnormality. Most chromosome 18 abnormalities are highlighted by a 'failure to thrive' mainly due to feeding difficulties.

Aims: To date there has been no systematic investigation into the main factors affecting feeding in these patients therefore the aim of this study was to gain a greater understanding of the feeding problems that arise from chromosome 18 abnormalities to enhance clinical diagnosis and treatment.

Methods: After ethical approval from the institutional ethics committee an online survey was distributed via the membership of the Chromosome 18 Registry and Research Society (Europe) and its social media channels. The survey was designed to determine the frequency of commonly reported feeding issues determined in the limited academic literature and from direct experience of parents.

Results: There were 51 completed questionnaires from 11 countries for individuals under the age of 17. Average age was 6.6+4.6 years (49% male, 51% female). The sample included the following genetic abnormalities 18q- (29.4%), 18p-(17.6%), Trisomy (3.9%), Tetrasomy (33.3%) Ring (3.9%) and Mosaic (11.8%). The key features affecting feeding were: reflux (55.6%) although 17.8% had recovered as they had grown older; high palate (27.5%); difficulty eating solid food(57.2%); difficulties with swallowing, sucking or latching onto the breast due to hypotonia (71.7%) and constipation (63%). Collected qualitative data highlighted additional feeding issues and treatment strategies used by parents.

Conclusion: This data provides new information on the prevalence and nature of feeding issues in this patient group as well as potential treatment solutions thus providing a valuable resource for health professionals in supporting young individuals with chromosome 18 abnormalities.
Original languageEnglish
Publication statusPublished - 5 Nov 2021
Event12th Glasgow Paediatric Research Day - Online, United Kingdom
Duration: 5 Nov 2021 → …
https://www.gla.ac.uk/schools/medicine/research/childhealth/glasgowpaediatricresearchday2021/ (Event details.)


Conference12th Glasgow Paediatric Research Day
Country/TerritoryUnited Kingdom
Period5/11/21 → …
Internet address


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