Neurofibromatosis Type 1
Conditions
Keywords
NF1, Children, Reading disability, Morphological and functional MRI, Genetic analysis
Brief summary
A monocenter pilot study on the acceptability and feasibility of a functional MRI protocol in children with NF1 with or without reading disabilities.
Detailed description
The principal aim of the study is to highlight the activation of brain area involved phonological and visuo-spatial processing in children with NF1 with or without reading disabilities.
Interventions
IQ (WISC-IV) Reading tests (reading accuracy, reading speed, reading comprehension and strategy): Alouette, Lobrot, Odedys tests. Visuo-spatial skill (JLO, Thurston, CORSI tests) Attention (CPT 2, CBCL) Receptive oral language (EVIP)
RADIATIONmorphological and functional MRI (fMRI)
The fMRI will consider on the acquisition of a 3D anatomical sequence in T1 high resolution in axial slices of 1mm with an acquisition time of 10 min and a T2 sequence and a Flair to allow UBO location.
GENETICgenetic analysis
Blood collection in 3 tubes (2 PAXgen® and 1 EDTA) and analysis to study the NF1 gene deletion.
Sponsors
University Hospital, Toulouse
Study design
Allocation
NON_RANDOMIZED
Intervention model
PARALLEL
Primary purpose
DIAGNOSTIC
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
8 Years to 12 Years
Healthy volunteers
No
Inclusion criteria
* Age included between 8 and 12 years * Child presenting a type 1 neurofibromatosis according to 2 criteria in the following criteria list : * At least 6 café au lait spots * 2 or more neurofibromas or 1 plexiform neurofibroma * axillary or inguinal freckling * 1 optic nerf glioma * 2 or more Lisch nodules * 1 osseous lesion as sphenoid dysplasia or thinning of the long bone cortex with or without pseudarthrosis * 1 A first degree relative (parent, sibling, or offspring) with NF1 by the above criteria * Membership in a national insurance * Consent of the child and the parents
Exclusion criteria
* Mental retardation (QI T \< 70) * Treated or untreated epilepsy * Visual deficit (visual Acuteness \< 4/10 * Presence of a symptomatic optic glioma * Presence of a brain tumor.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Percentage of children performing in full the protocol functional MRI | day 1 | Study the acceptability and feasibility of a functional MRI protocol in children with NF1 with or without reading disabilities. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| blood flow in milliliters per minute | day 1 | Comparison of brain activations involved in phonological and visuo-spatial processing in 2 groups in children with NF1. 1 group with reading disability and 1 group without reading disability Search for a link between the presence of a large deletion of the gene and learning disorders. |
Countries
France
Outcome results
None listed