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AAP Updates Guidance for Care in Neurofibromatosis Type 1

Report describes criteria for diagnosis, role of genetic testing, possible health manifestations

WEDNESDAY, April 24, 2019 (HealthDay News) — Guidance has been updated for the health supervision of children with neurofibromatosis type 1 (NF1), according to a clinical report from the American Academy of Pediatrics published online April 22 in Pediatrics.

David T. Miller, M.D., Ph.D., from Harvard University and Boston Children’s Hospital, and colleagues reviewed the clinical criteria needed to establish a diagnosis of NF1, major clinical and developmental manifestations, and guidelines for monitoring and maximizing the health of the affected child.

The researchers note that at least two of seven criteria are required to establish diagnosis of NF1, and in nonfamilial pediatric cases, diagnosis may be difficult as certain clinical manifestations are age-dependent. The condition is usually first suspected based on the development of café-au-lait macules, which have uniform and regular borders. Genetic testing may be performed for diagnosis or to assist in genetic counseling and family planning. Molecular genetic confirmation is usually unnecessary if a child meets the diagnostic criteria for NF1; however, it can confirm a suspected diagnosis before appearance of a second feature. NF1 has a spectrum of health implications, including cutaneous pigmentary manifestations, gliomas of the central nervous system, malignancies related to NF1, neurologic manifestations, neurodevelopmental delays, and problems with skeletal growth. Other medical complications include vascular and gastrointestinal complications.

“Pediatricians can play a critical role in improving outcomes by identifying signs that can lead to a diagnosis and by conducting appropriate surveillance,” the authors write.

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