The American Academy of Pediatrics and the American College of Medical Genetics and Genomics will publish a clinical report, “Health Supervision for Children with Neurofibromatosis Type 1,” providing guidance on one of the most common inherited genetic conditions, in the May 2019 issue of Pediatrics.
The report updates health supervision and treatment for the condition, which affects approximately 1 in 3,000 individuals and has a wide spectrum of health implications. Diagnosis can be difficult because signs and symptoms vary widely. Children often are identified when they develop multiple flat patches of the skin that are darker than the surrounding area, which are called café-au-lait spots. Periodic monitoring for scoliosis, signs of early puberty, and school difficulties is recommended as more signs and symptoms emerge with age, including benign tumors along the nerves in the skin and other parts of the body.
Early diagnosis is important, because children with Neurofibromatosis Type 1 need ophthalmology surveillance for optic glioma, a tumor occurring in about 20%, and most likely to impact children under 6 potentially causing vision loss if not detected early and treated. Infants with Neurofibromatosis Type 1 may have mild motor developmental delays that may improve over time, and about half of children with the condition have learning problems. Common skeletal abnormalities include short stature, scoliosis, and more rarely, long bone dysplasia.
The AAP report states that clinical trials are underway that may provide new treatments to significantly improve the quality of life and health for people with the condition.
Additional Information from HealthyChildren.org: