Functional Imaging and Reading Deficit in Children With NF1

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

A monocenter pilot study on the acceptability and feasibility of a functional MRI protocol in children with NF1 with or without reading disabilities.

Study Overview

• Status: Completed
• Conditions: Neurofibromatosis Type 1
• Intervention / Treatment: Other: Neuropsychological assessments; Radiation: morphological and functional MRI (fMRI); Genetic: genetic analysis

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 Type: Interventional
• Enrollment (Actual): 25
• Phase: Not Applicable

Contacts and Locations

Study Locations

• France
  • Toulouse, France
    • CHU Toulouse

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 8 years to 12 years (Child)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

Description

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 Plan

How is the study designed?

Design Details

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

Number of Arms

2

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Other: Children with reading disability; 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; 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); Radiation: morphological 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.; Genetic: genetic analysis; Blood collection in 3 tubes (2 PAXgen® and 1 EDTA) and analysis to study the NF1 gene deletion.
Other: Children without reading disability; 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; 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); Radiation: morphological 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.; Genetic: genetic analysis; Blood collection in 3 tubes (2 PAXgen® and 1 EDTA) and analysis to study the NF1 gene deletion.

What is the study measuring?

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

Collaborators and Investigators

• Sponsor: University Hospital, Toulouse
• Investigators: Principal Investigator: Yves Chaix, MD PhD, CHU Toulouse

Study record dates

Study Major Dates

• Study Start: March 1, 2009
• Primary Completion (Actual): April 1, 2015
• Study Completion (Actual): April 1, 2015

Study Registration Dates

• First Submitted: March 27, 2015
• First Submitted That Met QC Criteria: April 16, 2015
• First Posted (Estimate): April 21, 2015

Study Record Updates

• Last Update Posted (Estimate): August 19, 2015
• Last Update Submitted That Met QC Criteria: August 18, 2015
• Last Verified: August 1, 2015

More Information

Terms related to this study

• Keywords: Children; Genetic analysis; NF1; Reading disability; Morphological and functional MRI
• Additional Relevant MeSH Terms: Nervous System Diseases; Neoplasms by Histologic Type; Neoplasms; Genetic Diseases, Inborn; Neuromuscular Diseases; Neurodegenerative Diseases; Neoplasms, Nerve Tissue; Peripheral Nervous System Diseases; Nervous System Neoplasms; Heredodegenerative Disorders, Nervous System; Neoplastic Syndromes, Hereditary; Nerve Sheath Neoplasms; Neurocutaneous Syndromes; Peripheral Nervous System Neoplasms; Neurofibromatoses; Neurofibromatosis 1; Neurofibroma
• Other Study ID Numbers: 08 154 02; 2008-A01493-52 (Registry Identifier: ID-RCB)