| 1 |
Sporadic and Familial Variants in NF1: An Explanation of the Wide Variability in Neurocognitive Phenotype?
|
|
Biotteau, Maëlle; Dejean, Sébastien; Lelong, Sandrine; Iannuzzi, Stéphanie; Faure-Marie, Nathalie; Castelnau, Pierre; Rivier, Francois; Lauwers-Cances, Valérie; Baudou, Éloïse; Chaix, Yves
|
|
In: ISSN: 1664-2295 ; Frontiers in Neurology ; https://hal.archives-ouvertes.fr/hal-02614595 ; Frontiers in Neurology, Frontiers, 2020, 11, pp.368. ⟨10.3389/fneur.2020.00368⟩ (2020)
|
|
Abstract:
International audience ; 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.
|
|
Keyword:
[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics; [SDV.NEU.SC]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Cognitive Sciences
|
|
URL: https://hal.archives-ouvertes.fr/hal-02614595
https://doi.org/10.3389/fneur.2020.00368
https://hal.archives-ouvertes.fr/hal-02614595/document
https://hal.archives-ouvertes.fr/hal-02614595/file/2020%20Biotteau%20et%20al.,%20Sporadic.pdf
|
|
BASE
|
|
Hide details
|
|
|
| 2 |
Sporadic and Familial Variants in NF1: An Explanation of the Wide Variability in Neurocognitive Phenotype?
|
|
|
|
In: Front Neurol (2020)
|
|
BASE
|
|
Show details
|
|
|
| 3 |
Deficit in phonological processes: a characteristic of the neuropsychological profile of children with NF1
|
|
|
|
In: ISSN: 0929-7049 ; EISSN: 1744-4136 ; Child Neuropsychology ; https://hal.archives-ouvertes.fr/hal-01763025 ; Child Neuropsychology, Taylor & Francis (Routledge), 2018, 24 (4), pp.558 - 574. ⟨10.1080/09297049.2017.1313970⟩ (2018)
|
|
BASE
|
|
Show details
|
|
|
| 4 |
Portrait du personnage biodigital ; Portrait of a Biodigital Character
|
|
|
|
In: Hermès [ISSN 0767-9513], Nouvelles voix de la recherche en communication, 2018, 82, p. 91 (2018)
|
|
BASE
|
|
Show details
|
|
|
| 5 |
Réflexion sur l’impact de la communication nonverbale interculturelle en Méditerranée
|
|
|
|
BASE
|
|
Show details
|
|
|
| 6 |
Good recovery from aphasia is also supported by right basal ganglia: a longitudinal controlled PET study. EJPRM-ESPRM 2008 award winner.
|
|
|
|
In: Eur J Phys Rehabil Med ; https://www.hal.inserm.fr/inserm-00443753 ; Eur J Phys Rehabil Med, 2009, 45 (4), pp.547-58 (2009)
|
|
BASE
|
|
Show details
|
|
|
|
|
