TABLE 4

Health Supervision Guidelines for Children With NF1

Infancy, 1 mo to 1 yEarly Childhood, 1–5 yLate Childhood 5 y to PubertyAdolescence and Young Adulthood (Postpubertal)
Genetic counseling
 Genetic etiologyXaXb
 Genetic testingAs neededcAs neededcAs neededcAs neededc
 Future reproductive planningXaXbXd
Medical evaluation and treatmente
 Monitor growth rateXAnnualAnnualfAnnual
 Measure head circumferenceXXX
 Blood pressureAnnualAnnualfgAnnualf
 Attention to cardiac examinationX
 Skin examinationXAnnualAnnualAnnual
 Bone examination or scoliosis examinationXbAnnualAnnualfAnnualf
 Neurologic examinationXAnnualAnnualfAnnualf
 Ophthalmologic examinationAnnualAnnualAnnualAs needed
 Monitor precocious pubertyAnnualfAnnualf
Diagnostic imaging examinationseAs neededeAs neededeAs neededeAs needede
Developmental and psychosocial evaluationgXXXX
 Anticipatory guidance; phenotype reviewhXaXbXbXb
  Family supportXXXX
  Support groupsXXXbXb
  Long-term planningXXXbXb
  Sexual and reproductive issuesXbX
  • X indicates to be performed; —, not applicable.

  • a Or at the time of diagnosis.

  • b At least once in this time period.

  • c See discussion.

  • d Before transition to adult care.

  • e As needed for significant abnormalities and/or new signs.

  • f Advise for more frequent visits as indicated.

  • g Ensure compliance with “2017 Recommendations for Preventive Pediatric Health Care” from the American Academy of Pediatrics.54 “Developmental and psychosocial evaluation” in this table should follow the standard recommendations for pediatric preventive care.

  • h Anticipatory guidance; phenotype review: review age-related medical and developmental issues of NF1 with the patient and family, including the following: issues related to motor and language development and potential need for early intervention (eg, speech therapy); learning and behavioral problems (eg, attention-deficit/hyperactivity disorder), school performance, and potential need for neuropsychological testing; and anticipatory guidance about concerning signs and symptoms related to plexiform neurofibromas.