Fig. 5

The identification of two PROMIS groups in child and adolescent patients, and clinical characteristics of the groups. A A Venn diagram showing the identification of two PROMIS groups in the young patients by their own assessments and their parents’ assessments. The numbers correspond to the numbers of patients in each category. The labels C1, C2, P1 and P2 correspond to the Figs. 3D and 4A. The 7 patients with discordance between the patients’ own and their parents’ assessments were considered “ambiguous”. B Pie charts showing the distribution of affected genes in the two groups of patients. C Bar-charts showing the clinical features in decreasing order of significance, in terms of their associations with the PROMIS groups. D Pie charts showing the positive rates for each of the four significantly associated clinical features in the two PROMIS groups. E Scatter plot showing the patients’ heights versus their ages. The straight lines are regression curve fitted for each of the four patient groups. F Scatter plot showing the patients’ spine BMD versus their ages. The straight lines are regression curve fitted for each of the four patient groups. G Violin plots showing the residuals of heights after fitting against age, with respect to the four groups. H Violin plots showing the residuals of BMDs after fitting against age, with respect to the four groups. P values in G, H indicate the F-testing result. I Violin plot showing muscle strengths in the two clusters