Introduction
Methods
Participants
Patients | Controls | |||
---|---|---|---|---|
value | range | value | range | |
group size | 8 | 8 | ||
males / females | 2 / 6 | 2 / 6 | ||
age (in years) 1
| 17.9 | 15.9–21.2 | 17.2 | 14.7 – 20.0 |
GALT activity (in % of reference value) 2
| 0.54 % | 0–1.52 % | ||
GALT mutation | 4 | Q188R/Q188R | ||
2 | 400Tdel/unknown | |||
1 | L195P/K229N | |||
urine galactose concentration (in μmol/mmol creatinine) | 11.9 | ND 3-33 | ||
urine galactitol concentration (in μmol/mmol creatinine) | 140 | 97-187 | ||
age at initiation of diet (in days) | 11.8 | 0–35 | ||
visual working memory (t-score) 4
| 32.3 | 22–51 | ||
sustained attention (mean RT in seconds) 5
| 13.8 | 11.3–18.1 | ||
verbal working memory (scaled score) 6
| 3.9 | 3–7 | ||
voice onset time sentence production (in seconds) 7
| 1.97 | 1.49–2.20 |
Data acquisition
Data analyses
Results
Differences across groups
Correlations with age, disease and behavioural variables
Regions of interest based on group differences in neurite density index (NDI) | ||||||||||||
NDI | FA | |||||||||||
mean values (SD) | correlations | mean values | correlations r
| |||||||||
patients | controls | patients | controls | patients | controls | patients | controls | |||||
Left | ||||||||||||
corpus callosum | 0.61 (0.03) | 0.67 (0.03) | 0.65 (0.02) | 0.69 (0.04) | age | −0.76 * | ||||||
GALT act | 0.64 +
| |||||||||||
forceps minor | 0.51 (0.03) | 0.59 (0.03) | age diet | −0.79 * | 0.44 (0.02) | 0.50 (0.02) | age | −0.62 +
| ||||
corona radiate | 0.57 (0.02) | 0.63 (0.03) | 0.53 (0.03) | 0.59 (0.02) | ||||||||
external capsule | 0.52 (0.03) | 0.57 (0.03) | 0.52 (0.02) | 0.47 (0.04) | ||||||||
superior longitudinal fasciculus | 0.62 (0.03) | 0.67 (0.03) | 0.46 (0.03) | 0.52 (0.01) | ||||||||
Right | ||||||||||||
corpus callosum | 0.62 (0.04) | 0.69 (0.03) | 0.67 (0.04) | 0.72 (0.02) | age | −0.70 +
| ||||||
forceps minor | 0.51 (0.03) | 0.58 (0.03) | age diet | −0.78 * | age | −0.643 +
| 0.46 (0.02) | 0.52 (0.02) | age diet | −0.72 * | ||
corona radiate | 0.58 (0.01) | 0.62 (0.03) | visual mem | 0.68 +
| 0.67 (0.04) | 0.72 (0.02) | ||||||
sust attent | 0.64 +
| |||||||||||
internal capsule | 0.62 (0.02) | 0.67 (0.03) | 0.65 (0.03) | 0.65 (0.04) | age diet | −0.65 +
| age | 0.679 +
| ||||
external capsule | 0.50 (0.02) | 0.55 (0.01) | 0.41 (0.03) | 0.46 (0.02) | age diet | −0.73 * | ||||||
inferior occipital fasciculus | 0.51 (0.03) | 0.6 (0.02) | 0.51 (0.04) | 0.6 (0.04) | ||||||||
inferior longitudinal fasciculus | 0.55 (0.03) | 0.6 (0.04) | 0.52 (0.03) | 0.58 (0.04) | age diet | −0.63 +
| ||||||
visual mem | 0.71 * | |||||||||||
superior longitudinal fasciculus | 0.63(0.04) | 0.68 (0.03) | 0.48 (0.05) | 0.53 (0.02) | age diet | −0.65 +
| ||||||
uncinate fasciculus | 0.49 (0.03) | 0.55 (0.02) | 0.46 (0.03) | 0.51 (0.03) | ||||||||
Regions of interest based on group differences in orientation dispersion index (ODI) | ||||||||||||
ODI | FA | |||||||||||
mean values (SD) | correlations | mean values (SD) | correlations r
| |||||||||
patients | controls | patients | controls | patients | controls | patients | controls | |||||
Left | ||||||||||||
corpus callosum | 0.08 (0.01) | 0.06 (0.01) | age | 0.77 * | age | −0.68 +
| 0.75 (0.04) | 0.81 (0.02) | ||||
corona radiate | 0.22 (0.01) | 0.19 (0.01) | age | 0.69 +
| 0.50 (0.03) | 0.56 (0.02) | ||||||
internal capsule | 0.15 (0.01) | 0.13 (0.01) | 0.66 (0.02) | 0.70 (0.03) | ||||||||
external capsule | 0.25 (0.01) | 0.21 (0.01) | age diet | 0.64 +
| 0.40 (0.03) | 0.46 (0.02) | VOT | −0.64 +
| ||||
inferior longitudinal fasciculus | 0.13 (0.01) | 0.10 (0.01) | 0.62 (0.05) | 0.65 (0.02) | age | −0.74 * | ||||||
superior longitudinal fasciculus | 0.19 (0.01) | 0.16 (0.02) | VOT | −0.68 +
| 0.51 (0.05) | 0.56 (0.04) | age | −0.75 * | ||||
Right | ||||||||||||
corona radiate | 0.22 (0.03) | 0.19 (0.03) | age | 0.68 +
| 0.40 (0.06) | 0.50 (0.03) | age diet | −0.65 +
|