Classical galactosemia galactosemia
Conditions
Interventions
Sponsors
Eligibility
Inclusion criteria
Inclusion criteria: Patient groupThe patient may participate in the study, if they meet these criteria: Adult age: 18 years or older Galacose-1-phosphate uridylyl transferase (GALT) enzyme activity below 10% and/or GALT gene severe disease causing mutations Documented motor and language impairments Capable of giving informed consent The participants are screened pre and post intervention using standardized tests. Participants with abnormal scores in cognitive and/or motor domains are eligible. Control group Healthy controls are included if they meet the following criteria:Adult age: 18 years or older No motor, language and/or cognitive impairments Capable of giving informed consent
Exclusion criteria
Exclusion criteria: A subject will be excluded from the study, if he/she meets these criteria: Motor and language problems due to other causesEczemaPsoriasisEpilepsy
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Behaviour and 9 channel EEG will be recorded pre and post stimulation of 10Hz alpha tACS at left frontal central sites (FP3). The video description of all participants under all stimulation conditions will be recorded and offline analysed and coded for errors (wrong colour or object naming, hampering, silence). Reaction times will be recorded, from video onset until start of the overt naming, registered via a voice sensitive microphone attached to a headset. To monitor language proficiency, we use the online test lextale (lextale.com) as reliable test for language proficiency pre/post stimulation and as three months follow up. | — |
Countries
Netherlands
Contacts
Maastricht Universitair Medisch Centrum +