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

Roswell Eldridge, Martha Bridge Denckla, Ellen Bien, Susan Myers, Muriel I. Kaiser Kupfer, Anita Pikus, Sandra L. Schlesinger, Dilys M. Parry, James M. Dambrosia, Michael A. Zasloff, John J. Mulvihill

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish (US)
Pages (from-to)833-837
Number of pages5
JournalAmerican Journal of Diseases of Children
Volume143
Issue number7
DOIs
StatePublished - 1989
Externally publishedYes

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Nervous System Malformations
Neurofibromatosis 1
Central Nervous System Diseases
Attention Deficit Disorder with Hyperactivity
Intellectual Disability
Cognition
Nervous System
Brain
Specific Learning Disorder
Spatial Orientation

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Neurofibromatosis Type 1 (Recklinghausen's Disease) : Neurologic and Cognitive Assessment With Sibling Controls. / Eldridge, Roswell; Denckla, Martha Bridge; Bien, Ellen; Myers, Susan; Kaiser Kupfer, Muriel I.; Pikus, Anita; Schlesinger, Sandra L.; Parry, Dilys M.; Dambrosia, James M.; Zasloff, Michael A.; Mulvihill, John J.

In: American Journal of Diseases of Children, Vol. 143, No. 7, 1989, p. 833-837.

Research output: Contribution to journalArticle

Eldridge, R, Denckla, MB, Bien, E, Myers, S, Kaiser Kupfer, MI, Pikus, A, Schlesinger, SL, Parry, DM, Dambrosia, JM, Zasloff, MA & Mulvihill, JJ 1989, 'Neurofibromatosis Type 1 (Recklinghausen's Disease): Neurologic and Cognitive Assessment With Sibling Controls', American Journal of Diseases of Children, vol. 143, no. 7, pp. 833-837. https://doi.org/10.1001/archpedi.1989.02150190083027
Eldridge, Roswell ; Denckla, Martha Bridge ; Bien, Ellen ; Myers, Susan ; Kaiser Kupfer, Muriel I. ; Pikus, Anita ; Schlesinger, Sandra L. ; Parry, Dilys M. ; Dambrosia, James M. ; Zasloff, Michael A. ; Mulvihill, John J. / Neurofibromatosis Type 1 (Recklinghausen's Disease) : Neurologic and Cognitive Assessment With Sibling Controls. In: American Journal of Diseases of Children. 1989 ; Vol. 143, No. 7. pp. 833-837.
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