PPM - Achondroplasia Evaluation and Management-Checklist

Checklist
Pdf Summary
The "Achondroplasia Evaluation and Management" checklist, updated in October 2024, is a comprehensive guide for healthcare providers to ensure thorough assessment and management of patients with achondroplasia. It covers several critical areas:<br /><br />1. <strong>Medical and Developmental Evaluations</strong>: The checklist emphasizes reviewing the patient's medical history and conducting a developmental assessment, especially for pediatric patients. It suggests using achondroplasia-specific tools to evaluate motor skills and early communication, implementing early interventions if necessary.<br /><br />2. <strong>Molecular and Physical Assessments</strong>: FGFR3 molecular testing, important for confirming diagnoses, is highlighted. Regular monitoring of height, weight, and occipital-frontal circumference (OFC) against achondroplasia-specific growth charts is recommended. Special attention should be given to the OFC during infancy and the risk of obesity in later years.<br /><br />3. <strong>Imaging and Referrals</strong>: Initial and follow-up MRIs of the brain and cervical spine should be documented. If anomalies are indicated, a neurosurgical consultation may be needed. Sleep studies and hearing tests are advised, with appropriate referrals to audiologists or ENT specialists for persistent issues.<br /><br />4. <strong>Orthopedic and Neurologic Considerations</strong>: The checklist advises evaluating and referring for potential skeletal issues, such as kyphosis and leg bowing, and screening for spinal stenosis symptoms. Anticipatory guidance for spinal alignment and safe use of specific child transportation devices is provided.<br /><br />5. <strong>Reproductive Counseling</strong>: Women with achondroplasia are advised on potential pregnancy complications and the increased necessity for monitoring. Genetic counseling regarding inheritance patterns and recurrence risks for families is discussed.<br /><br />6. <strong>Treatment Options and Support</strong>: Discussion of treatment options, including vosoritide and clinical trial medications, is recommended. The checklist ensures that the diagnosis is well-documented and that support resources are offered to families.<br /><br />This holistic approach ensures that all facets of care are addressed for patient and family support in managing achondroplasia.
Keywords
Achondroplasia
Evaluation
Management
FGFR3
Growth charts
Orthopedic
Neurologic
Reproductive counseling
Treatment options
Support resources