Table 1.
Responsiveness of PROMs between baseline and follow-up of parents or patients with different rare diseases by diagnostic outcome
| All | Diagnosis | No diagnosis | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Baseline | Follow up | Change | Change | ||||||||||||
| N | Mean | SD | Mean | SD | N | Mean | SD | p-value | SRM | N | Mean | SD | p-value | SRM | |
| NDs (parents) | |||||||||||||||
| SF-6D | 62 | 0.72 | 0.12 | 0.69 | 0.13 | 20 | -0.01 | 0.08 | 0.56 | -0.13 | 42 | -0.04 | 0.14 | 0.06* | -0.29a |
| SF-12 PCS | 62 | 53.36 | 8.35 | 50.89 | 9.95 | 20 | -1.05 | 10.81 | 0.67 | -0.10 | 42 | -3.15 | 10.25 | 0.053* | -0.31a |
| SF-12 MCS | 62 | 42.43 | 12.61 | 42.55 | 10.75 | 20 | 1.97 | 13.44 | 0.52 | 0.15 | 42 | -0.76 | 14.80 | 0.74 | -0.05 |
| GKDs (parents) | |||||||||||||||
| SF-6D | 22 | 0.70 | 0.12 | 0.69 | 0.11 | 11 | -0.04 | 0.07 | 0.10 | -0.54b | 11 | 0.01 | 0.11 | 0.66 | 0.14 |
| SF-12 PCS | 22 | 51.71 | 9.39 | 51.67 | 9.92 | 11 | 0.60 | 5.43 | 0.72 | 0.11 | 11 | -0.69 | 8.17 | 0.79 | -0.08 |
| SF-12 MCS | 22 | 40.84 | 12.42 | 39.44 | 12.83 | 11 | -2.79 | 9.47 | 0.35 | -0.29a | 11 | 0.00 | 9.14 | 0.999 | 0.00 |
| GKDs (adult patients) | |||||||||||||||
| SF-6D | 76 | 0.72 | 0.13 | 0.71 | 0.14 | 40 | -0.02 | 0.09 | 0.16 | -0.23a | 36 | 0.01 | 0.08 | 0.36 | 0.15 |
| SF-12 PCS | 76 | 47.92 | 11.74 | 49.35 | 10.72 | 40 | -0.54 | 7.57 | 0.66 | -0.07 | 34 | 3.73 | 9.32 | 0.03 ** | 0.40a |
| SF-12 MCS | 76 | 44.97 | 11.81 | 43.49 | 12.52 | 40 | -1.25 | 8.38 | 0.35 | -0.15 | 34 | -1.74 | 9.54 | 0.30 | -0.18 |
| CNDs (adult patients) | |||||||||||||||
| EQ-5D-5L | |||||||||||||||
| Utility score | 61 | 0.71 | 0.29 | 0.70 | 0.28 | 10 | -0.06 | 0.16 | 0.29 | -0.35a | 51 | 0.01 | 0.12 | 0.73 | 0.05 |
| EQ VAS score | 59 | 0.67 | 0.20 | 0.66 | 0.21 | 9 | 0.05 | 0.18 | 0.40 | 0.30a | 50 | -0.02 | 0.17 | 0.50 | -0.12 |
| DASS | |||||||||||||||
| Depression | 52 | -0.42 | 1.58 | -0.4 | 1.48 | 9 | 0.48 | 1.26 | 0.33 | 0.38a | 43 | -0.08 | 1.23 | 0.17 | -0.06 |
| Anxiety | 52 | -0.73 | 1.78 | -0.55 | 1.71 | 9 | 0.63 | 1.57 | 0.33 | 0.41a | 43 | 0.09 | 0.98 | 0.48 | 0.09 |
| Stress | 52 | -0.19 | 1.36 | -0.15 | 1.24 | 9 | 0.25 | 1.04 | 0.51 | 0.24a | 43 | 0.00 | 1.00 | 0.93 | 0 |
| Neuro QoL | |||||||||||||||
| PAW | 55 | 53.08 | 7.48 | 52.69 | 8.36 | 9 | 1.00 | 2.96 | 0.34 | 0.34a | 46 | -0.66 | 5.74 | 0.44 | -0.12 |
| DCM (adult patients) | |||||||||||||||
| AQol-8D | 33 | 0.71 | 0.18 | 0.72 | 0.17 | 6 | 0.04 | 0.07 | 0.29 | 0.48a | 27 | 0.01 | 0.11 | 0.77 | 0.06 |
| Physical | 33 | 0.66 | 0.21 | 0.66 | 0.22 | 6 | -0.002 | 0.08 | 0.95 | -0.03 | 27 | 0.001 | 0.13 | 0.96 | 0.01 |
| Psychosocial | 33 | 0.40 | 0.17 | 0.42 | 0.17 | 6 | 0.04 | 0.08 | 0.26 | 0.51b | 27 | 0.01 | 0.12 | 0.72 | 0.07 |
Note: PROMs: patient-reported outcome measures; ND: neurodevelopmental disorders; GKD: genetic kidney diseases; CNDs: complex neurological disorders; DCM: dilated cardiomyopathy. For ND parents, GKD parents and GKD adults, a higher SF-6D score, SF-12 Physical Component Scores (PCS) and SF-12 Mental Component Scores (MCS) indicate better health. t-test was used to assess the mean change in SF-6D score, SF-12 PCS score and SF-12 MCS score. For CND adult patients, a higher EQ-5D utility score and EQ VAS score indicates better health. We rescaled EQ VAS score to a 0–1 scale; DASS scale score was converted to z-score to enable comparison between DASS scale scores. We rescaled the DASS scores so that higher z-score indicates better health state (i.e. 0- original z-score). A higher Neuro-QoL T-score represents more of the concept being measured. t-tests was used to assess the mean change in EQ-5D utility score, EQ VAS score and NeuroQoL score and Wilcoxon’s test was used to assess the mean change in DASS score. For adult DCM patients, a higher AQoL utility score and the two component scores indicate better health. t-test was used to assess the mean change in AQoL utility score. The values of 0.2, 0.5 and 0.8 represent the cut-off points for small (a), moderate (b), and large (c) standardised response mean (SRM) effect sizes *, **, *** denote significance at the 10, 5, and 1% level, respectively