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 |