Screening
Disorder
Screening for the presence of NF1 is feasible only by skin examination (by trained clinicians) of children prior to school enrolment.[37] The reason for such screening relies on the ability to intervene positively for those children with NF1-associated cognitive dysfunction and attendant school performance problems. The precise impact is yet to be determined.
Population-based screening is not established by law or official policy, but attentiveness to the diagnosis of NF1 would be prudent for all clinicians examining children prior to school enrolment.
Features
Screening for the presence of occult features of NF1 remains controversial, with particular regard for optic pathway gliomas.[35] Many NF specialty clinics carry out screenings for presymptomatic optic pathway gliomas using neuroimaging. IQ/psychological testing of school-aged patients with NF1 is generally recommended, although there are no formal guidelines in this regard.[9] Recommendations suggest considering a baseline whole body MRI scan at transition from childhood to assess tumour burden.[14] The increased risk of breast cancer and poor prognosis now suggests that women with NF1 should be offered early breast screening with mammography or MRI from around 30 to 35 years of age.[38][39]
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