PPM - Down Syndrome-Checklist

Checklist
Pdf Summary
This document provides a checklist for healthcare professionals to ensure comprehensive care for individuals with Down syndrome during patient visits. It covers various aspects of care from diagnosis to adulthood. The checklist includes the following points:<br /><br />1. Confirming the diagnosis of Down syndrome using genetic testing.<br />2. Assessing for familial translocations if there is an unbalanced translocation.<br />3. Collecting a three-generation family pedigree.<br />4. Reviewing the diagnosis and associated clinical manifestations with the parents.<br />5. Providing genetic counseling and discussing recurrence risk in subsequent pregnancies.<br />6. Supplying educational materials and referring to support groups.<br />7. Conducting blood tests and monitoring for abnormal myelopoiesis and signs of leukemia.<br />8. Performing an echocardiogram to evaluate for congenital heart defects.<br />9. Completing hearing assessments from the first month of life and following early detection protocols.<br />10. Referring to an ENT specialist if the tympanic membrane cannot be visualized.<br />11. Conducting a feeding assessment or video study in certain cases.<br />12. Discussing the importance of maintaining cervical spine alignment and taking atlantoaxial stability precautions during procedures.<br />13. Referring to a pediatric ophthalmologist and conducting vision screenings.<br />14. Monitoring thyroid function and iron levels periodically.<br />15. Using Down syndrome-specific growth charts to track weight, height, and head circumference.<br />16. Referring to early intervention for physical, speech, and occupational therapies.<br />17. Assessing for developmental regression at every health maintenance visit.<br />18. Discussing and discouraging unsafe complementary alternative medicine use.<br />19. Recommending RSV prophylaxis based on guidelines for children under the age of two.<br />20. Conducting sleep studies and assessing for sleep-disordered breathing.<br />21. Making plans for puberty, contraception, and sexually transmitted infection prevention.<br />22. Discussing the risk of Down syndrome if a female patient becomes pregnant.<br />23. Facilitating the transition to adulthood, including education, work, guardianship, financial planning, medical care, and independent living.<br /><br />By following this checklist, healthcare professionals can ensure comprehensive and individualized care for individuals with Down syndrome at each visit.
Keywords
Down syndrome
genetic testing
diagnosis
congenital heart defects
hearing assessments
pediatric ophthalmologist
early intervention
complementary alternative medicine
RSV prophylaxis
transition to adulthood