Table 3.
Respondent characteristics
| N | % | |
|---|---|---|
| Sex | ||
| Male | 108 / 216 | 50% |
| Female | 108 / 216 | 50% |
| Disease | ||
| SCA | 115 / 216 | 53.2% |
| HD | 89 / 216 | 41.2% |
| Other 1 | 12 / 216 | 5.6% |
| SCA subtype ( n = 115) | ||
| SCA1 | 9 / 115 | 7.8% |
| SCA2 | 1 / 115 | 0.9% |
| SCA3 | 58 / 115 | 50.4% |
| SCA6 | 26 / 115 | 22.6% |
| SCA7 | 1 / 115 | 0.9% |
| SCA 8, 10, 12 or 36 | 2 / 115 | 1.7% |
| Idiopathic late onset cerebellar ataxia | 1 / 115 | 0.9% |
| Other autosomal dominant cerebellar ataxia | 9/ 115 | 7.8% |
| Autosomal recessive cerebellar ataxia | 0 / 115 | 0% |
| No genetic testing | 3 / 115 | 2.6% |
| Other | 5 / 115 | 4.3% |
| SCA (and ‘others’) level of functioning1 [38] (n = 127) | ||
| No symptoms | 15 / 127 | 11.8% |
| Symptoms, walk independent | 47 / 127 | 37% |
| Symptoms, walk with walking aid | 49 / 127 | 38.6% |
| Symptoms, wheelchair bound | 16 / 127 | 12.6% |
| HD level of functioning1 [39] (n = 89) | ||
| Stage 1 (TFC-UHDRS2 score 11–13) | 49 / 89 | 55.1% |
| Stage 2 (TFC-UHDRS score 7–10) | 30 / 89 | 33.7% |
| Stage 3 (TFC-UHDRS score 3–6) | 10 / 89 | 11.2% |
| Stage 4 (TFC-UHDRS score 1–2) | 0 / 89 | 0% |
| Stage 5 (severe disability) | 0 / 89 | 0% |
| Living situation | ||
| Single | 43 / 216 | 19.9% |
| With child(ren) | 5 / 216 | 2.3% |
| With partner | 107 / 216 | 49.5% |
| With partner and child(ren) | 58 / 216 | 26.9% |
| With parents | 2 / 216 | 0.9% |
| Nursing home | 1 / 216 | 0.5% |
| Highest level of education | ||
| Basic (ISCED-113 level 1–2) | 31 / 216 | 14.4% |
| Intermediate (ISCED-11 level 3–4) | 78 / 216 | 36.1% |
| Advanced (ISCED-11 level 5–8) | 107 / 216 | 49.5% |
| Most disabling symptom (SCA) ( n = 115) | ||
| Movement / coordination / walking | 81 / 115 | 70.4% |
| Speech | 15 / 115 | 13% |
| Fatigue / energy | 10 / 115 | 8.7% |
| Mood (depression) | 1 / 115 | 0.9% |
| Other | 8 / 115 | 7% |
| Most disabling symptom (HD) ( n = 89) | ||
| Movement / coordination / walking / chorea | 28 / 89 | 31.5% |
| Speech / swallowing | 7 / 89 | 7.9% |
| Memory / cognition | 15 / 89 | 16.9% |
| Behavioral changes | 22 / 89 | 24.7% |
| Mood (depression) | 5 / 89 | 5.6% |
| Other | 12 / 89 | 13.5% |
| Ideal timing of genetic intervention | ||
| Before first symptoms | 64 / 216 | 29.6% |
| First symptoms | 105 / 216 | 48.6% |
| Need for walking aid | 25 / 216 | 11.6% |
| Unable to do job | 8 / 216 | 3.7% |
| Need for nursing home | 7 / 216 | 3.2% |
| Other | 7 / 216 | 3.2% |
| Wants to participate in trial | ||
| Yes | 173 / 216 | 80.1% |
| No | 43 / 216 | 19.9% |
| Reason to participate in trial ( n = 173) | ||
| Earlier timing to receive treatment | 43 / 173 | 24.9% |
| Contribution to science | 28 / 173 | 16.2% |
| For future generations (children) | 92 / 173 | 53.2% |
| No costs | 0 / 173 | 0% |
| More follow-up | 6 / 173 | 3.5% |
| Other | 4 / 173 | 2.3% |
| Reason not to participate in trial ( n = 43) | ||
| Unknown risks | 26 / 43 | 60.5% |
| Chance of receiving placebo | 3 / 43 | 7% |
| Time | 2 / 43 | 4.7% |
| Travelling | 6 / 43 | 14% |
| Other | 6 / 43 | 14% |
1 For determination of the level of functioning, these 12 respondents were added to the ‘SCA’ subgroup
2 TFC-UHDRS = Total Functional Capacity of the Unified Huntington Disease Rating Scale
3 ISCED-11 = International Standard Classification of Education 20