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| ID | Type | Description | Link |
|---|---|---|---|
| 2008-A01493-52 | Registry Identifier | ID-RCB |
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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.
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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Children with reading disability | Other | 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 |
|
| Children without reading disability | Other | 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. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Neuropsychological assessments | Other | 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) |
| 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 |
| 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 |
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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 :
Membership in a national insurance
Consent of the child and the parents
Exclusion Criteria:
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| Name | Affiliation | Role |
|---|---|---|
| Yves Chaix, MD PhD | University Hospital, Toulouse | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| CHU Toulouse | Toulouse | France |
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| ID | Term |
|---|---|
| D009456 | Neurofibromatosis 1 |
| D004410 | Dyslexia |
| ID | Term |
|---|---|
| D017253 | Neurofibromatoses |
| D009455 | Neurofibroma |
| D018317 | Nerve Sheath Neoplasms |
| D009380 | Neoplasms, Nerve Tissue |
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| ID | Term |
|---|---|
| D005820 | Genetic Testing |
| ID | Term |
|---|---|
| D019411 | Clinical Laboratory Techniques |
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
| D008919 | Investigative Techniques |
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| morphological and functional MRI (fMRI) | Radiation | 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. |
|
| genetic analysis | Genetic | Blood collection in 3 tubes (2 PAXgen® and 1 EDTA) and analysis to study the NF1 gene deletion. |
|
| D009370 |
| Neoplasms by Histologic Type |
| D009369 | Neoplasms |
| D009386 | Neoplastic Syndromes, Hereditary |
| D020752 | Neurocutaneous Syndromes |
| D009422 | Nervous System Diseases |
| D020271 | Heredodegenerative Disorders, Nervous System |
| D019636 | Neurodegenerative Diseases |
| D010523 | Peripheral Nervous System Diseases |
| D009468 | Neuromuscular Diseases |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D007806 | Language Disorders |
| D003147 | Communication Disorders |
| D019954 | Neurobehavioral Manifestations |
| D009461 | Neurologic Manifestations |
| D000067559 | Specific Learning Disorder |
| D007859 | Learning Disabilities |
| D012816 | Signs and Symptoms |
| D013568 | Pathological Conditions, Signs and Symptoms |
| D065886 | Neurodevelopmental Disorders |
| D001523 | Mental Disorders |
| D005821 | Genetic Techniques |
| D033142 | Genetic Services |
| D006296 | Health Services |
| D005159 | Health Care Facilities Workforce and Services |
| D003954 | Diagnostic Services |
| D011314 | Preventive Health Services |