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 athttp://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).
