Neuropsychological Impairment and Quality of Life in Neurofibromatosis Type 1

The study cohort will consist of 150 patients with NF1 (100 adults and 50 children) recruited from the Neurofibromatosis Clinic at the University Hospital in Nantes and Créteil (France). A sample of 150 healthy controls (100 adults and 50 children) will also be recruited from sport and leisure clubs to serve as a normally developing control group.

The protocol assessment includes a standard and thorough neuropsychological examination specific to children and adults, to investigate the different aspects of cognitive domains: language, visuoperceptive and visuomotor abilities, memory, attention, executive function and intelligence skills. Quality of life is measured by a questionnaire specifically adapted to children and adults.

Other factors linked to the NF1 disease (familial or sporadic form, severity and visibility) and to demographic characteristics (sex, age, education level) will be taken into account to study their respective impact on quality of life, as compared with neuropsychological measures.

Inclusion criteria

for Patients :

• NF1 diagnosis following National Institutes of Health criteria (1988)
• Age: 8-12 years for children, 18-59 years for adults
• Signed informed written consent (parent and patient for children, patient for adults)
• French speaking
• Resident in France

Inclusion criteria

for Healthy controls:

• Absence of NF1 diagnosis, learning disabilities, intellectual precocity
• Age: 8-12 years for children, 18-59 years for adults
• Signed informed written consent (parent and healthy control for children, healthy control for adults)
• French speaking
• Resident in France

Exclusion criteria

• Uncorrectable hearing of visual impairment
• History of psychiatric illness
• Neuropsychological investigation in the last 6 months
• Insufficient language usage
• Any other known history of central nervous system pathology or neuropathological complications of NF1