Functional Imaging and Reading Deficit in Children With NF1

Not Applicable

Completed

• Conditions: Neurofibromatosis Type 1
• Interventions: Other: Neuropsychological assessments; Radiation: morphological and functional MRI (fMRI); Genetic: genetic analysis

• Registration Number: NCT02422732
• Lead Sponsor: University Hospital, Toulouse

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.

Study Timeline

• Study Start: 2009-03
• Study First Submitted: 2015-03-27
• Primary Completion: 2015-04
• Study Completion: 2015-04
• Study First Submitted QC: 2015-04-16
• Study First Posted: 2015-04-21
• Status Verified: 2015-08
• Last Update Submitted: 2015-08-18
• Last Update Posted: 2015-08-19

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 25

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.

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: PARALLEL

Arm && Interventions

Group	Intervention	Description
Children with reading disability	genetic analysis	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	Neuropsychological assessments	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.
Children without reading disability	morphological and functional MRI (fMRI)	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.
Children with reading disability	morphological and functional MRI (fMRI)	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	genetic analysis	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.
Children with reading disability	Neuropsychological assessments	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

Primary Outcome Measures

Name	Time	Method
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 Outcome Measures

Name	Time	Method
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.

Trial Locations

Locations (1)

CHU Toulouse; 🇫🇷 Toulouse, France