Abstract
Background: Cognitive impairment is the most common neurological manifestation in NF1 and occurs in 30–70% of NF1 cases. The onset and severity of each specific cognitive deficit varies greatly from child to child, with no apparent external causes. The wide variability of phenotype is the most complex aspect in terms of management and care. Despite multiple research, the mechanism underlying the high heterogeneity in NF1 has not yet been elucidated. While many studies have focused on the effects of specific and precise genetic mutations on the NF1 phenotype, little has been done on the impact of NF1 transmission (sporadic vs. familial cases). We used a complete neuropsychological evaluation designed to assess five large cognitive areas: general cognitive functions (WISC-IV and EVIP); reading skills (“L'Alouette,” ODEDYS-2 and Lobrot French reading tests); phonological process (ODEDYS-2 test); visual perceptual skills (JLO, Thurstone and Corsi block tests) and attention (CPT-II), as well as psychosocial adjustments (CBCL) to explore the impact of NF1 transmission on cognitive disease manifestation in 96 children affected by NF1 [55 sporadic cases (29♀, 26♂); 41 familial cases (24♀, 17♂)].Results: Familial and Sporadic form of NF1 only differ in IQ expression. The families' socioeconomic status (SES) impacts IQ performance but not differently between sporadic and familial variants. However, SES is lower in familial variants than in the sporadic variant of NF1. No other cognitive differences emerge between sporadic and familial NF1.Conclusions: Inheritance in NF1 failed to explain the phenotype variability in its entirety. IQ differences between groups seems in part linked to the environment where the child grows up. Children with NF1, and especially those that have early diagnoses (most often in inherited cases), must obtain careful monitoring from their early childhood, at home to strengthen investment in education and in school to early detect emerging academic problems and to quickly place them into care.Trial Registration: IDRCB, IDRCB2008-A01444-51. Registered 19 January 2009.
Highlights
Cognitive impairment is the most common neurological manifestation in NF1 and occurs in 30–70% of NF1 cases
The 96 children included in the main analysis were part of this exploratory analysis
The population is roughly balanced between the sporadic NF1 variant [55] and the familial variant [41]
Summary
Cognitive impairment is the most common neurological manifestation in NF1 and occurs in 30–70% of NF1 cases. While many studies have focused on the effects of specific and precise genetic mutations on the NF1 phenotype, little has been done on the impact of NF1 transmission (sporadic vs familial cases). Neurofibromatosis type 1 (NF1 or von Recklinghausen’s disease), is a tumor predisposition syndrome characterized by the development of typical cutaneous and ophthalmologic manifestations including cafe-au-lait spots, freckling, dermal neurofibromas and Lisch nodules. NF1 patients may develop endocrine (early-onset puberty, growth retardation), neurological (learning disabilities, epilepsy), ophthalmological (optic glioma), skeletal (bone dysplasia, scoliosis), cosmetic disfigurement or organ compression due to plexiform neurofibromas and vascular complications (high blood pressure) [1,2,3,4,5]. Clinical manifestations are progressive and age dependent They appear gradually during childhood, from cafe-au-lait macules at birth, to skinfold freckles, lisch nodules and latter neurofibromas [2]. Even if penetrance is complete in children over 8 years old [9], clinical features range from a very mild manifestation to a very severe form of the disease depending of individuals
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