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Neurofibromatosis Type 1 (Recklinghausen's Disease) Neurologic and Cognitive Assessment With Sibling Controls

Roswell Eldridge, MD; Martha B. Denckla, MD; Ellen Bien, PhD; Susan Myers, MD; Muriel I. Kaiser-Kupfer, MD; Anita Pikus, MS; Sandra L. Schlesinger, MS; Dilys M. Parry, PhD; James M. Dambrosia, PhD; Michael A. Zasloff, MD, PhD; John J. Mulvihill, MD
Am J Dis Child. 1989;143(7):833-837. doi:10.1001/archpedi.1989.02150190083027.
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• 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.

(AJDC. 1989;143:833-837)


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