TY - JOUR
T1 - Neurofibromatosis Type 1 (Recklinghausen's Disease)
T2 - Neurologic and Cognitive Assessment With Sibling Controls
AU - Eldridge, Roswell
AU - Denckla, Martha B.
AU - Bien, Ellen
AU - Myers, Susan
AU - Kaiser Kupfer, Muriel I.
AU - Pikus, Anita
AU - Schlesinger, Sandra L.
AU - Parry, Dilys M.
AU - Dambrosia, James M.
AU - Zasloff, Michael A.
AU - Mulvihill, John J.
PY - 1989/7
Y1 - 1989/7
N2 - Neurologic and cognitive function in neurofibromatosis type 1 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 These subjects, however, had significantly higher scores for subtle neurologic abnormalities and significantly lower full-scale IQ scores 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.
AB - Neurologic and cognitive function in neurofibromatosis type 1 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 These subjects, however, had significantly higher scores for subtle neurologic abnormalities and significantly lower full-scale IQ scores 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.
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U2 - 10.1001/archpedi.1989.02150190083027
DO - 10.1001/archpedi.1989.02150190083027
M3 - Article
C2 - 2500844
AN - SCOPUS:0024346367
SN - 0002-922X
VL - 143
SP - 833
EP - 837
JO - American Journal of Diseases of Children
JF - American Journal of Diseases of Children
IS - 7
ER -