Deficit in phonological processes: a characteristic of the neuropsychological profile of children with NF1

ABSTRACT

Learning disabilities are one of the most frequent complications of neurofibromatosis type 1 (NF1) in children. Studies of the effects of the neurocognitive deficit on academic performance are relatively rare, owing to the small size of the populations concerned. However, research is needed to develop effective rehabilitation programs. In the present study, we explored the impact of a possible phonological deficit on the reading abilities of children with NF1. A multicenter, cross-sectional study was conducted in France on two groups of 75 children with or without NF1 aged 8–12 years, matched for age, sex, handedness, and reading level. All participants underwent a neuropsychological evaluation to assess their general cognitive level, reading skills, phonological processes, visuoperceptual abilities, and attentional capacity. Phonological skills were assessed by means of two phonological awareness tasks and one short-term memory task. In the group of children with NF1, 41% had reading difficulties. Phonological processes were impaired in this group, compared with the children without NF1. Similar differences were found for a phoneme deletion task after adjustment for reading difficulties, IQ level, and visuoperceptual abilities. Phonological awareness, but not phonological short-term memory, was impaired in children with NF1, and not just those whose reading was impaired. Results suggest that children with NF1 have a phonological awareness deficit, whatever their reading level. Identification of reduced phonological skills may warrant the implementation of a specific rehabilitation program before early reading difficulties emerge.

KEYWORDS:

• Child
• NF1
• neuropsychology
• reading disorders
• phonological processes

Acknowledgments

This work is dedicated to the children and their families who agreed to take part in the study. We would like to thank the French NF network, the association ANR France, and Occitanie Regional Council for their support. The authors also thank Maëlle Biotteau for her help in producing the final draft of this paper and the reviewers for their constructive comments.

Disclosure statement

No potential conflict of interest was reported by the authors.

Clinical trial registration

This study was registered with ClinicalTrials.gov under the number NCT02397967.

Contributors’ statements

Yves Chaix was the principal investigator of the study, conceived the idea for the study, and wrote the protocol and the manuscript. Valerie Cancès-Lauwers contributed to the writing of the protocol and the manuscript, carried out statistical analyses, and wrote the statistical sections of the manuscript. Caroline Gentil also carried out statistical analyses. Nathalie Faure-Marie was involved in coordinating the study and carried out the neuropsychological tests. Sandrine Lelong was involved in study coordination and quality control. Stéphanie Iannuzzi and Elodie Preclaire carried out the neuropsychological tests. Elisabeth Schweitzer, Nathalie Dorison, Diana Rodriguez, Isabelle Kemlin, François Rivier, Maryline Carneiro, Sebastien Barbarot, and Laurence Lion-François included and examined the patients. Pierre Castelnau helped to conceive the idea for the study, included patients, and participated in the writing of the manuscript. All the authors approved the final manuscript as submitted and agree to be accountable for all aspects of the work.

Additional information

Funding

This work was supported by a grant from the French Health Ministry’s Hospital Program of Clinical Research (PHRC 2008, Toulouse University Hospital, no. 08 113 01) and a grant from Occitanie Regional Council (APRTC no. 09004813).