Executive and social functioning in patients with Tyrosinemia Type 1
- Conditions
- Metabolic diseaseTyrosinemia Type 11002742410021605
- Registration Number
- NL-OMON47045
- Lead Sponsor
- niversitair Medisch Centrum Groningen
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Recruiting
- Sex
- Not specified
- Target Recruitment
- 36
General inclusion criteria for recruitment of HT1 patients:
- Patients meet NIH-diagnostic criteria for Hereditary Tyrosinemia Type 1 (HT1)
- Patients are treated with NTBC alone or with a diet as well, or patients received orthotopic liver transplantation (OLT)
- Minimum age of 7 years at time of study
- IQ >= 80 (if unknown, this will be assessed)
- Patients have not participated in neuropsychological studies in the last 6 months
- Native speaker;General inclusion criteria for recruitment of controls:
- Controls are healthy
- Minimum age of 7 years at time of study
- IQ >= 80 (if unknown, this will be assessed)
- Controls have not participated in neuropsychological studies in the last 6 months
- Native speaker
General exclusion criteria for recruitment of HT1 patients:
- Mental retardation that has been diagnosed by the clinical centre
- Neurological damage due to the disease, except for acute porphyria attacks
- Medical illnesses other than HT1 with known effects on cognitive and social functioning
- Not a native speaker;General exclusion criteria for recruitment of controls:
- Mental retardation that has been diagnosed by the clinical centre
- Medical illnesses with known effects on cognitive and social functioning
- Not a native speaker
Study & Design
- Study Type
- Observational non invasive
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method <p>Main study parameters/endpoints: Neurocognitive tasks, measuring executive<br /><br>functions (inhibition, working memory, cognitive flexibility) and social<br /><br>cognition serve as study parameters. Questionnaires measuring executive and<br /><br>social functioning and behaviour in daily life are also used. Historical and<br /><br>concurrent tyrosine and phenylalanine concentrations are used as predictors<br /><br>expecting significant differences between HT1 patients with high and low blood<br /><br>levels, and between patients and controls.</p><br>
- Secondary Outcome Measures
Name Time Method <p>Participants will perform an abbreviated version of the Wechsler Intelligence<br /><br>Scale for Children (WISC) and Wechsler Adult Intelligence Scale (WAIS) with two<br /><br>subtests: Block Design and Vocabulary.<br /><br><br /><br>Next to this timing and clinical symptoms at time of diagnosis and some<br /><br>bloodresults will be gathered namely (all other amino acids (including<br /><br>tryptophan), succinylacetone and NTBC concentration, serotonine, prolactin and<br /><br>metanephrines (breakdown of noradrenaline and adrenaline))</p><br>