Functional Imaging and Reading Deficit in Children With NF1

Study Overview
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Brief Summary
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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
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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.

Official Title
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Functional Magnetic Resonance Imaging and Reading Deficit in Children With NF1 Children

Conditions
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Neurofibromatosis Type 1

Intervention / Treatment
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* Other: Neuropsychological assessments
* Radiation: morphological and functional MRI (fMRI)
* Genetic: genetic analysis


Participation Criteria
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Eligibility Criteria
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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.

Ages Eligible for Study
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Minimum Age: 8 Years
Maximum Age: 12 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Diagnostic
Allocation: Non-Randomized
Intervention Model: Parallel Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Other: Children with reading disability<br>Children with NF1, with reading disability if their performances on reading assessment (Alouette Test) present a delay of at least 18 months, will have Neuropsychological assessments, morphological and functional MRI (fMRI) and genetic analysis | Other: Neuropsychological assessments<br>* 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)<br>Radiation: morphological and functional MRI (fMRI)<br>* 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.<br>Genetic: genetic analysis<br>* Blood collection in 3 tubes (2 PAXgen® and 1 EDTA) and analysis to study the NF1 gene deletion.<br>|
| Other: Children without reading disability<br>Children with NF1, without reading disability if their performances on reading assessment (Alouette Test) present a less than 18-month delay, will have Neuropsychological assessments, morphological and functional MRI (fMRI) and genetic analysis. | Other: Neuropsychological assessments<br>* 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)<br>Radiation: morphological and functional MRI (fMRI)<br>* 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.<br>Genetic: genetic analysis<br>* Blood collection in 3 tubes (2 PAXgen® and 1 EDTA) and analysis to study the NF1 gene deletion.<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Percentage of children performing in full the protocol functional MRI | Study the acceptability and feasibility of a functional MRI protocol in children with NF1 with or without reading disabilities. | day 1 | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| blood flow in milliliters per minute | 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. | day 1 | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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NF1, Children, Reading disability, Morphological and functional MRI, Genetic analysis