PPM -Assessment and Management of Fragile X Syndrome-Checklist

Checklist

Pdf Summary

The document is a checklist for healthcare professionals to use during visits with patients who have or are at risk for Fragile X Syndrome. It outlines a comprehensive approach to managing the condition, ensuring thorough assessments and appropriate interventions. Key areas covered include:

1. <strong>Medical and Developmental History:</strong> Review and document the patient's medical, developmental, and behavioral history, as well as family history with pedigree.

2. <strong>Molecular Testing:</strong> Review and document results of molecular tests for Fragile X, ensuring patients and their families understand the molecular basis and inheritance patterns.

3. <strong>Physical Health Monitoring:</strong> Document height, weight, and head circumference (OFC) at each visit, along with a physical examination to check for skeletal and cardiac involvement.

4. <strong>Consultations and Referrals:</strong> Determine the need for ophthalmology, orthopedics, cardiology, and audiology consultations and make referrals as necessary.

5. <strong>Developmental and Neurologic Monitoring:</strong> At every visit, assess and document developmental status and monitor neurologic and behavioral conditions. Make referrals for specialized management as required.

6. <strong>Behavior and Therapy Management:</strong> Document pharmacologic management of behaviors and discuss early intervention, physical, and other therapies relevant to the patient's age.

7. <strong>Educational and Adult Support Discussions:</strong> Consider educational settings like preschool, school programs, vocational training, and adult day care options.

8. <strong>Genetic Counseling:</strong> Provide information on carriers, FXTAS, premature ovarian failure, and prenatal diagnosis, offering genetic counseling where necessary.

9. <strong>Support Resources:</strong> Document discussions of support groups and any relevant clinical trials.

10. <strong>Clinical Features Discussion:</strong> Discuss and document the clinical features of Fragile X Syndrome, differentiating between male and female presentations, premutations, full mutations, and methylation status.

This checklist ensures comprehensive management through systematic documentation and interdisciplinary coordination.

Keywords

Fragile X Syndrome

healthcare checklist

medical history

molecular testing

physical health monitoring

consultations referrals

developmental monitoring

behavior management

genetic counseling

support resources