Angelman syndrome
Conditions
Interventions
No intervention
Sponsors
Not yet known
Eligibility
Age
No minimum to 17 Years
Inclusion criteria
Inclusion criteria: Genetisch bevestigde diagnose van Angelman syndroom; • Leeftijd tussen 6 maanden en 18 jaar; • Informed consent gegeven door wettelijk vertegenwoordiger (ouder of verzorger); • Ouder(s) of verzorger(s) heeft/hebben voldoende beheersing van de Nederlandse taal.
Exclusion criteria
Exclusion criteria: Recente non-convulsieve status epilepticus of comorbide somatische stoornis die het dagelijks functioneren beïnvloedt; Een mozaïekvorm van Angelman syndroom; Ernstige visuele problemen die interfereren met het vermogen van de participant om de stimuli op het scherm tijdens de fNIRS en eye-tracking taken waar te nemen.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| The feasibility of functional Near Infrared Spectroscopy (fNIRS), eye-tracking, Indirect Calorimetry (IC), the BOD POD, and Bio-Impedance Analysis (BIA) in children with AS. | — |
Secondary
| Measure | Time frame |
|---|---|
| The study’s secondary objective is to further unravel the phenotype of Angelman syndrome, i.e., deep phenotyping. For the secondary objective, we will: 1. Collect additional measures to complement our existing natural history database. 2. Relate the variables of our primary objective to a) each other; b) the variables of our secondary objectives, and; c) the variables of our existing natural history study. This will allow us to do deep phenotyping and will give us information on the validity of the measures of the primary objective (e.g., when relating a novel outcome to a well-known clinical instrument or questionnaire). For the measures of the primary objective, we will additionally look at reliability and meaningfulness of the outcome to the parent/caregiver. 3. Relate the exact genotype to several of the primary and secondary outcome variables. | — |
Contacts
Public ContactDoesjka Hagenaar
Erasmus MC - Sophia
Outcome results
None listed