Medical Care for Your Child with Neurofibromatosis Type 1 (NF1)

All people with neurofibromatosis type 1 (NF1) (say: noor-oh-fie-broh-muh-TOE-sis) should receive regular medical care at every age. Many complications of NF1 happen before the age of 6, so the health of babies and young children should be watched most closely.

This page has general guidelines for the care of children with NF1. Remember that your child will have his own unique needs. Talk to your child's doctor if you have concerns. This will ensure your child receives the best care possible.

Medical care from birth to 1 year old

Your child's doctor will:

  • Track how your baby grows and develops. This includes his weight, height, and the size of his head.
  • Check your baby's skin for café-au-lait spots and neurofibromas.
  • Check your baby for signs of plexiform (deep) neurofibromas
  • Refer your baby to an opthalmologist (eye doctor) for an eye exam to look for signs of optic nerve involvement.
  • Perform a neurological exam to look for signs of brain or spinal cord involvement (neurological problems).
  • Perform a careful physical exam for bone problems, especially in your baby's spine and legs.
  • Refer your baby for early intervention services or to medical specialists, if needed.

Routine brain imaging such as a computerized tomography (CT) scan or magnetic resonance imaging (MRI) is not advised for babies that do not have any symptoms. The doctor may order an MRI if she suspects that the brain or spine are affected.

Medical care from 1 to 5 years old

Your child's doctor will:

  • Check your child's skin for neurofibromas, café au lait spots, and armpit or groin freckling.
  • Check your child for signs of plexiform neurofibromas
  • Perform a neurological exam to look for signs of brain or spinal cord involvement. The doctor may order a MRI if she suspects that the brain or spine are affected.
  • Assess your child's development, including gross motor, fine motor, speech and language, and social skills
  • Assess your child's growth
  • Measure your child's blood pressure each year.
  • Check your child's vision and refer your child for eye exams once a year to look for signs of optic nerve involvement.
  • Check your child for scoliosis (curving of the spine).
  • Refer your child for counselling, specialized medical care, or other services as needed.

Medical care from 5 to 13 years old

Your child's doctor will:

  • Check your child for neurofibromas.
  • Check your child for signs of plexiform neurofibromas
  • Perform a neurological exam to look for signs of brain or spinal cord involvement. The doctor may order a  MRI if she suspects that the brain or spine are affected.
  • Check your child's height and weight growth.
  • Check your child's growth for signs of puberty: children with NF1 may have precocious (early) or delayed (late) puberty. If your child has precocious puberty, he will need further medical care or exams.
  • Check your child for scoliosis.
  • Ensure regular eye exams every 2 to 3 years to look for signs of optic nerve involvement.
  • Evaluate your child for signs of learning problems, attention deficit/hyperactivity disorder (ADHD), or other behaviour problems.
  • Assess your child's social and emotional development.
  • Measure your child's blood pressure each year. If your child has high blood pressure, the doctor will need to investigate and treat it.
  • Refer your child for counselling, specialized medical care, or other services as needed.

Medical care from 13 years to adulthood

Your child's doctor will:

  • Ensure regular eye exams every 2 to 3 years to look for signs of optic nerve involvement.
  • Perform a neurological exam to look for signs of brain or spinal cord movement. The doctor may order Imaging (such as an MRI) if she suspects that the brain or spine are affected. 
  • Check your teen's height and weight growth
  • Check your teen's growth for signs of puberty: children with NF1 may have precocious (early) or delayed (late) puberty.
  • Measure your teen's blood pressure each year. If your teen has high blood pressure, the doctor will need to investigate and treat it.
  • Offer to refer your teen to genetic counselling. Counselling will explain the genetics of NF1 and options for prenatal diagnosis and molecular testing.
  • If your teen is a girl, counsel her about how pregnancy will affect NF1: symptoms of NF1 can worsen or increase during pregnancy.
  • Refer your teen for counselling, specialized medical care, or other services as needed.
  • Help your young adult move to adult medical care.

Key points

  • People with NF1 should receive regular care and monitoring throughout life.
  • Parents should talk to their child's doctor if they have any concerns about new or concerning symptoms.

Elena Pope, MD, MSc, FRCPC

Patricia Parkin, MD, FRCPC

Stephen Meyn, MD, PhD, FRCPC, FACMG

Andrea Shugar, MS, CGC, CCGC


1/27/2010

Hersh JH and Committee on Genetics. Health supervision for children with neurofibromatosis





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