To identify affected functional networks and underlying structural pathology of the cognition problems in galactosemia.
ID
Source
Brief title
Condition
- Metabolic and nutritional disorders congenital
- Inborn errors of metabolism
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
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 outcome
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
Background summary
Classic galactosemia is a hereditary disorder caused by the body*s inability to
breakdown galactose, a sugar mainly found in milk. A galactose-restricted diet
(soy diet) is the basis of therapy. This, however, does not prevent the
emergence of long-term complications. Patients have a history of affected
language and speech. Previous and ongoing research performed by this project
group shows that syntax is a major problem in these children. Syntax was
examined using electroencephalography (EEG). Results showed major differences
in behavioral measures (errors and voice onset time latencies) and in the
event-related potentials (ERPs) derived from the EEG. Former research revealed
an abnormal white matter pattern in these patients. Complementary to our EEG
study, this project will examine language production using advanced magnetic
resonance (MR) imaging methods, aiming to elucidate the neural correlates of
the language problems. A detailed examination of the brain and its
(mal)function during language is imperative to deducing the (neural) cause of
these problems, ultimately leading to the designing of successful treatment
approaches with a better outcome. Further, this study will add to the growing,
but limited knowledge on pathophysiological mechanisms underlying the
complications. Developments in cognitive theories and neuroimaging allow
identification of neural networks and integrity of white matter bundles and
exploration of the functional connectivity between these networks during task
performance.
Study objective
To identify affected functional networks and underlying structural pathology of
the cognition problems in galactosemia.
Study design
Observational case control design using an MR imaging protocol, consisting of
multiple sequences: a structural scan, functional MRI and diffusion tensor
imaging (DTI).
Study burden and risks
The participants will be asked to visit the Maastricht University Medical
Centre. The session will have a duration of approximately 2,5 hours. They are
expected to lie in the MR scanner and perform a behavioural task during one MR
sequence. The total scanning time will be approximately 1 hour. The scanning
might be experienced as slightly unpleasant because of the small space inside
the scan and the loud noise associated with the recordings. To decrease the
anxiety, participants will be familiarized with the scanner by means of a dummy
scanner. The noise level will be decreased by means of ear plugs. Also,
participants will be put at ease by playing a video during the time that they
are not required to perform a task.
Postbus 5600
6202 AZ Maastricht
NL
Postbus 5600
6202 AZ Maastricht
NL
Listed location countries
Age
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)
Design
Recruitment
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| CCMO | NL36362.068.11 |