Searchable abstracts of presentations at key conferences on calcified tissues
Bone Abstracts (2019) 7 P117 | DOI: 10.1530/boneabs.7.P117

ICCBH2019 Poster Presentations (1) (226 abstracts)

Use of Lego® to explain genetic variations in type 1 collagen – a pilot study

Jeremy Allgrove 1 , Mark Heathfield 2 , Karen Edwards 3 , Chris Clark 4 , Emilie Hupin 3 , Megan Riddington 5 , Alex Bultitude 4 , Belinda Crowe 1 & Catherine DeVile 1

1Great Ormond Street Hospital for Children, Consultant, London, UK; 2Great Ormond Street Hospital for Children, Clinical Nurse Specialist, London, UK; 3Great Ormond Street Hospital for Children, Physiotherapist, London, UK; 4Great Ormond Street Hospital for Children, Occupational Therapist, London, UK; 5Great Ormond Street Hospital for Children, Clinical Psychologist, London, UK.

Objectives: To examine the usefulness of Lego® as a visual reinforcer to explain genetic mutations to parents and carers of children and young people who have osteogenesis imperfecta (OI).

Methods: Before entering a dedicated OI clinic, patients and carers completed a quantitative questionnaire devised by one of the team (MR), asking how much they knew about the genetic mutations causing OI within their families and whether they wished for a more detailed explanation. If so, an explanation using Lego® bricks to represent the ‘spelling mistake’ and its impact was given by a consultant (JA), who is not a geneticist. This explanation involved the use of four different coloured small (1×1 or 1×2) bricks to represent the four different codons, together with a variety of different coloured flat bricks (3×1) to represent the different amino acids. Using this method, it was possible to explain all major mutations including single base substitutions, insertions, deletions, intronic mutations/splice site variations, pro-peptide sequence variations and whole exon deletions etc. An adapted questionnaire collecting additional qualitative data was completed by the parent/carer after leaving the clinic. Responses were scored on a visual analogue scale with scores between 0 and 10. Paired t-test was used for statistical analysis and qualitative data recorded.

Results: Fourteen patients expressed an interest in having further information about their genetic mutation and all completed both pre- and post-clinic questionnaires. As expected, the most common mutation was a single base pair substitution resulting in a single glycine substitution with impaired cross-linking between individual collagen strands, but all of the above variations were included. The mean score (Range) prior to explanation was 3.0 (1–7) and this rose to 8.4 (6–10) afterwards (P<0.01). In no subjects did the score decline. Positive qualitative responses (13) were included.

Conclusions: All subjects expressed an increased understanding of their genetic variations and many said that they found the visual approach very helpful. We therefore intend to extend this methodology to larger numbers both within the OI and other clinics and to assess the extent to which the information is retained at a future time point.

Disclosure: The authors declared no competing interests.

Volume 7

9th International Conference on Children's Bone Health


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