Neurofibromatosis type 1 (Recklinghausen's disease). Neurologic and cognitive assessment with sibling controls
R. Eldridge, M. B. Denckla, E. Bien, S. Myers, M. I. Kaiser-Kupfer, A. Pikus, S. L. Schlesinger, D. M. Parry, J. M. Dambrosia, M. A. Zasloff and al. et
Neuroepidemiology Branch National Institutes of Health, Bethseda, Md.
Neurologic and cognitive function in neurofibromatosis type 1 (NF1) were
assessed in a controlled pilot study of 13 pairs of siblings aged 6 to 27
years. One subject in each pair was affected with NF1, and the other, the
control subject, was unaffected. Subjects with evidence of focal central
nervous system disease were excluded. The 13 subjects with NF1 had no
excess of mental retardation, attention-deficit disorder, or specific
learning disorders (using Wilcoxon's Signed Rank Test and McNemar's Test
for Symmetry). These subjects, however, had significantly higher scores for
subtle neurologic abnormalities (21 vs 6) and significantly lower
full-scale IQ scores (94 vs 105) than their unaffected siblings. The IQ
scores of the affected subjects were not clustered at the lower end of the
scale but showed a slight downward shift in distribution compared with
those of their siblings. In addition, a visual-spatial orientation deficit
was present in eight of nine affected subjects so evaluated. The findings
suggest that subjects with NF1 have a widespread alteration of the brain
during development that manifests as one or more specific types of
neuropsychologic deficits.
Health Supervision for Children With Neurofibromatosis
Hersh and Committee on Genetics
Pediatrics 2008;121:633-642.
ABSTRACT
| FULL TEXT
Neurofibromatosis type 1: Motor and cognitive function and T2-weighted MRI hyperintensities
Feldmann et al.
Neurology 2003;61:1725-1728.
ABSTRACT
| FULL TEXT
Ocular Motor Behavior of Children With Neurofibromatosis 1
Lasker et al.
J Child Neurol 2003;18:348-355.
ABSTRACT
A child with axillary freckling and cafe au lait spots
Wainer
CMAJ 2002;167:282-283.
FULL TEXT
Review Article : Cognitive Deficits in Neurofibromatosis 1
North et al.
J Child Neurol 2002;17:605-612.
ABSTRACT
Review Article : Molecular and Cellular Mechanisms Underlying the Cognitive Deficits Associated With Neurofibromatosis 1
Costa and Silva
J Child Neurol 2002;17:622-626.
ABSTRACT
Prospective Evaluation of the Brain in Asymptomatic Children with Neurofibromatosis Type 1: Relationship of Macrocephaly to T1 Relaxation Changes and Structural Brain Abnormalities
Steen et al.
Am. J. Neuroradiol. 2001;22:810-817.
ABSTRACT
| FULL TEXT
Brain volume in children with neurofibromatosis type 1: Relation to neuropsychological status
Moore et al.
Neurology 2000;54:914-920.
ABSTRACT
| FULL TEXT
Brain tumors in children with neurofibromatosis: Additional neuropsychological morbidity?
De Winter et al.
Neuro Oncol 1999;1:275-281.
ABSTRACT
