Classic galactosemia
Conditions
Interventions
None listed
Sponsors
Eligibility
Inclusion criteria
Inclusion criteria: A diagnosis of classic galactosemia as assessed by GALT enzyme activity assay or GALT-gene mutation analysis (information obtained from treating physician) Age between 14 and 20 years old
Exclusion criteria
Exclusion criteria: Any other disorder or disease that could affect cognitive functioning independently of classic galactosemia (an exception is made for the diagnosis of Attention-Deficit/Hyperactivity Disorder (ADHD), because this disorder is common in this group)
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| The main parameters are measures derived from 1) structural MRI scans (i.e. lesions in white matter, cortical thickness), 2) functional MRI during a language task and during rest (i.e. % of BOLD change in selected regions of interest; ROIs, Granger causality correlations), 3) DTI (i.e. fractional anisotropy; FA, and mean diffusity; MD, and DTI tractography), 4) the behavioral paradigm (i.e. number of errors, voice onset latencies). | — |
Secondary
| Measure | Time frame |
|---|---|
| These contain the more general measures that will be used to obtain more information about the participants. In the analyses, these parameters will be used descriptively, as covariate or in a correlation analysis: - Speech therapy treatment, physical therapy or special education - Relevant medical history - Comorbidity ADHD - Metabolic information, such as GALT mutation, GALT enzyme activity, urine galactose and galactitol - Nutrition parameters, such as soy, vitamin and trace elements intake | — |
Countries
Netherlands