Outcome measures in children with Angelman syndrome
Completed
- Conditions
- Angelman syndrome10029299
Recruitment & Eligibility
- Status
- Completed
- Sex
- Not specified
- Target Recruitment
- 20
Inclusion Criteria
• Genetically confirmed diagnosis of Angelman syndrome;
• Age between 6 months and 18 years;
• Informed consent given by legal representative (parent or caregiver);
• Parent(s)/caregiver(s) should have an adequate command of the Dutch language.
Exclusion Criteria
• Current non-convulsive status epilepticus or inter-current somatic illness
influencing daily functioning;
• The presence of a mosaic form of Angelman syndrome;
• Severe visual problems that will interfere with the participant*s ability to
perceive the stimuli on the screen during the fNIRS and eye-tracking tasks.
Study & Design
- Study Type
- Observational invasive
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method <p>Feasibility of functional Near Infrared Spectroscopy (fNIRS), eye-tracking, the<br /><br>Zeno Walkway Gait Analysis System, Indirect Calorimetry (IC), the BOD POD, and<br /><br>Bio-Impedance Analysis (BIA) in children with Angelman syndrome. </p><br>
- Secondary Outcome Measures
Name Time Method <p>The study*s secondary objective is to further unravel the phenotype of Angelman<br /><br>syndrome, i.e., deep phenotyping.<br /><br><br /><br>For the secondary objective, we will:<br /><br>1. Collect additional measures to complement our existing natural history<br /><br>database.<br /><br>2. Relate the variables of our primary objective to a) each other; b) the<br /><br>variables of our secondary objectives, and; c) the variables of our existing<br /><br>natural history study.<br /><br>3. Relate the genotype to several of the primary and secondary outcome<br /><br>variables. </p><br>