Table 5.
Responses to proportion questions
| Question | Proportion that reached consensus | Proportion selected (% selecting specified proportion) | Delphi questionnaire round |
|---|---|---|---|
| Please indicate the proportion of paediatric patients that present with the following symptoms, prior to a CTX diagnosis | |||
| Tendon xanthomas | 0–24% | 0–24% (89) | Round 3 |
| Early psychiatric symptoms (e.g. autism) | Consensus not reached |
0–24% (33) 25–49% (56) 50–74% (11) 75–100% (0) |
Round 3 |
| Neonatal cholestatic jaundice | Consensus not reached |
0–24% (38) 25–49% (38) 50–74% (25) 75–100% (0) |
Round 3 |
| Cerebellar system findings (e.g. ataxia symptoms and tremor) | Consensus not reached |
0–24% (33) 25–49% (22) 50–74% (33) 75–100% (11) |
Round 3 |
| Epilepsy | Consensus not reached |
0–24% (33) 25–49% (56) 50–74% (11) 75–100% (0) |
Round 3 |
| Peripheral neuropathy* | Consensus not reached |
0–24% (56) 25–49% (11) 50–74% (33) 75–100% (0) |
Round 3 |
| Z-scores below the expected range for age in bone mineral density (BMD)* | Consensus not reached |
0–24% (67) 25–49% (17) 50–74% (17) 75–100% (0) |
Round 3 |
| Please indicate the proportion of adult patients that present with the following symptoms, prior to a CTX diagnosis | |||
| Early-onset dementia | 25–49% | 25–49% (70) | Round 2 |
| Early-onset movement disorder (e.g. atypical parkinsonism) | Consensus not reached |
0–24% (44) 25–49% (44) 50–74% (0) 75–100% (11) |
Round 3 |
| Epilepsy | Consensus not reached |
0–24% (56) 25–49% (33) 50–74% (11) 75 –100% (0) |
Round 3 |
A total of 10 panellists answered questions in Rounds 1 and 2, and 9 in Round 3. Options achieving consensus (≥ 70% panellists selecting a particular proportion for that option) are shown for the round in which consensus was reached and highlighted in bold. Where questions did not achieve consensus throughout the study, the results are shown for Round 3. In some cases, panellists selected the same proportion for different options. *In Round 2 these options were phrased in one option as ‘Peripheral neuropathy where Z-scores are below the expected range for age in bone mineral density (BMD)’, however, for scientific accuracy it was decided to split this into two options in Round 3. BMD: bone mineral density; CTX: Cerebrotendinous xanthomatosis