Mapping the galactosemic brain: Finding the neural correlates of language impairments

Completed

Conditions: Classic galactosemia
inherited metabolic disorder
10027424
10021605

Registration Number: NL-OMON36086

Lead Sponsor: Medisch Universitair Ziekenhuis Maastricht

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: Completed

Sex: Not specified

Target Recruitment: 30

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

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)

Study & Design

Study Type: Observational non invasive

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>The main parameters are measures derived from 1) structural MRI scans (i.e.<br /><br>lesions in white matter, cortical thickness), 2) functional MRI during a<br /><br>language task and during rest (i.e. % of BOLD change in selected regions of<br /><br>interest; ROIs, Granger causality correlations), 3) DTI (i.e. fractional<br /><br>anisotropy; FA, and mean diffusity; MD, and DTI tractography), 4) the<br /><br>behavioral paradigm (i.e. number of errors, voice onset latencies).</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>These contain the more general measures that will be used to obtain more<br /><br>information about the participants. In the analyses, these parameters will be<br /><br>used descriptively, as covariate or in a correlation analysis:<br /><br>- Speech therapy treatment, physical therapy or special education<br /><br>- Relevant medical history<br /><br>- Comorbidity ADHD<br /><br>- Metabolic information, such as GALT mutation, GALT enzyme activity, urine<br /><br>galactose and galactitol<br /><br>- Nutrition parameters, such as soy, vitamin and trace elements intake</p><br>