As many as 80 percent of all children with neurofibromatosis will have associated difficulties that affect learning, including attention problems, memory problems, spatial perception difficulties, and selective problems in reading or mathematics. These learning disabilities may dramatically affect the lives of children with neurofibromatosis; however it is believed that early diagnosis and intervention can lead to better outcomes.
Although researchers do not fully understand why neurofibromatosis type 1 is associated with cognitive disabilities, the same gene defect that has been associated with tumors (a loss of the NF1 gene) seems to underlie these difficulties, as the lack of the NF1 gene results in abnormal growth and maturation of the brain and abnormal brain circuitry.
Diagnosing a Learning Disability
The diagnosis of learning disabilities in children with NF1 is based on a high level of expectation of such difficulties. Patients with NF1 who are seen in the Neurofibromatosis Clinic and the Neurology Clinic are screened for attention difficulties or any evidence of developmental delays. Children displaying such abnormalities should undergo detailed neurocognitive testing, which is available through the Gilbert Family Institute. The institute also works closely with schools to determine which children are at risk or if children are showing early evidence of cognitive or other learning disabilities.
Findings on MRIs can also be helpful, and children with a large number or volume of areas of immature brain (called focal areas of signal abnormality – FAST or unidentified bright objects – UBOs) may be a higher risk for development disabilities.
Treatment for a Learning Disability
The most important treatment for children with learning disabilities is placing them in appropriate school settings with appropriate support, The neurocognitive team at Children's National works with various school districts in an attempt to place these learning-disabled children into the best possible learning environments.
In selected cases, medications—including drugs to improve attention—may help these children. Through the institute a preliminary study was performed to see if the drug Lovostatin can improve attention and cognition in children with neurofibromatosis type 1. Based on the preliminary results of this study and work by other investigators across the country, an ongoing study at Children's National is confirming efficacy of that statin Lovostatin in treating children, between the ages of 10 and 17, with neurofibromatosis type 1 and neurocognitive difficulties. The study is being performed in collaboration with the Department of Defense Neurofibromatosis Clinical Trials Consortium, of which Children's National is a charter member. Dr. Maria Teresa Acosta, from Children's National, is the co-national principal investigator of the study.
There are other studies underway at Children's National, in collaboration with other institutions such as the Royal Alexandra Hospital for Children at Westmead in Sydney, Australia. These studies attempt to identify early in life those children who are at risk and determining the pattern of development for children with early developmental delays as they enter into the school years. These studies also are using innovative neuroimaging, including functional MRI.