Practice Guideline Briefs

AAP Guidelines on Health Supervision of Patients with Achondroplasia

Am Fam Physician. 2006 Mar 15;73(6):1112.

The Committee on Genetics of the American Academy of Pediatrics (AAP) has released a clinical report that includes guidelines to help physicians oversee the health of patients with achondroplasia. The report was published in the September 2005 issue ofPediatrics and is available online at http://www.pediatrics.org/cgi/content/full/116/3/771.

Most patients with achondroplasia have normal intelligence and can live independently; however, they are at a high risk of certain health and psychosocial problems. Anticipatory care directed at identifying high-risk patients is a significant factor in preventing serious sequelae.

The AAP guidelines for overseeing the health of patients with achondroplasia at various ages include the following:

Prenatal

  • Diagnose achondroplasia through ultrasonography and molecular testing.

  • Explain the condition and treatment options to the parents and assist them with decision making.

Birth to one month of age

  • Confirm the diagnosis with radiography.

  • Document the child’s measurements (i.e., occipitofrontal circumference, body length, and body weight).

  • Provide an overview of the condition and what to expect as well as education materials and support resources.

One month to one year of age

  • Confirm diagnosis if needed.

  • Assess growth and development.

  • Counsel parents on how to help prevent kyphosis and how to deal with otitis media.

  • Assess parents’ emotional well-being and social support systems.

One to five years of age

  • Continue to follow growth and development.

  • Evaluate child for bowed legs, hip flexion contractures, sleep apnea, and gastroesophageal reflux and screen for speech and hearing development.

  • Discuss adapting the home, toys, and clothing to fit the child’s needs.

  • Discuss weight control and toileting.

  • Determine if occupational therapy is needed.

  • Discuss preparing the child for school.

Five to 13 years of age

  • Assess growth, development, and social adaptation.

  • Review weight-control issues and appropriate physical activities.

  • Perform a physical examination.

  • Evaluate for signs and symptoms of spinal stenosis, sleep apnea, and orthodontic problems and screen for hearing and speech development. Consider orthopedic referral at approximately five years of age.

  • Emphasize correct posture and consider physical therapy if needed.

  • Prepare child for school and interaction with others, provide support resources for the child, and emphasize socialization and independence.

13 to 21 years of age

  • Monitor growth.

  • Review weight-control issues.

  • Continue to evaluate for sleep apnea and orthodontic problems.

  • Ensure that the patient has a proper understanding of the condition.

  • Discuss contraception.

  • Reevaluate the patient’s social adaptation; encourage social participation.

  • Assist with transition into adulthood (e.g., long-term goals, higher education, career, independence).


Copyright © 2006 by the American Academy of Family Physicians.
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