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DOI: 10.1177/088307380201700811
Review Article : Cognitive Deficits in Neurofibromatosis 1Neurogenetics Research Unit Children's Hospital at Westmead, Department of Paediatrics and Child Health, University of Sydney, Sydney, Australia
Neurogenetics Research Unit Children's Hospital at Westmead, Department of Paediatrics and Child Health, University of Sydney, Sydney, Australia
Neurogenetics Research Unit Children's Hospital at Westmead, Department of Paediatrics and Child Health, University of Sydney, Sydney, Australia Cognitive deficits and academic learning difficulties are the most common neurologic "complication" of neurofibromatosis 1 in childhood and can be responsible for significant lifetime morbidity. There is a slight increase in the frequency of mental retardation (Wechsler Full-Scale IQ < 70) in children with neurofibromatosis 1, but the mean Full-Scale IQ for the patient group is within 1 SD of the population mean. Academic difficulties are common, as are specific deficits in visuospatial ability, executive function, expressive and receptive language, and attentional skills. Behavioral and psychosocial problems have a major impact on quality of life, although there are few objective studies in this area. Current research is focusing on the pathogenesis of the disorder. Clinical studies have identified possible radiologic and pathologic markers for cognitive deficits in neurofibromatosis 1, which can now be explored in animal models. (J Child Neurol 2002;17:605-612).
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