PPM - 22q11.2 Deletion Syndrome-Checklist

Checklist
Pdf Summary
This document is a checklist for healthcare professionals to use during patient visits for individuals with 22q11.2 Deletion Syndrome. It outlines the necessary evaluations, assessments, examinations, and counseling that should be performed at different stages of life. <br /><br />For the initial evaluation, the checklist includes reviewing and documenting the patient's medical and developmental history, as well as genetic testing results. It also emphasizes the importance of performing an echocardiogram and renal ultrasound at the time of diagnosis, or recommending these evaluations if not already done. Additionally, it mentions the need to periodically monitor ionized calcium levels, especially during times of stress.<br /><br />For prepubertal individuals (age <10 years), the checklist includes measuring serum ionized calcium and intact parathyroid hormone levels, as well as annual thyroid function screening and complete blood count evaluation. It also recommends assessing immunologic status and referring to audiology and ophthalmology for evaluations. Dental and speech evaluations, as well as monitoring educational and social progress, are also suggested.<br /><br />For pubertal individuals (age 10-18 years), the checklist includes similar assessments, such as measuring ionized calcium and intact parathyroid hormone levels, annual thyroid function screening, and complete blood count evaluation. It also suggests referring to audiology and ophthalmology and evaluating speech quality. Additionally, screening for psychiatric disorders and monitoring educational and social progress is recommended.<br /><br />For adults (age >18 years), the checklist includes assessing ophthalmology and audiology needs, as well as annual thyroid function screening and screening for a complete blood count. It also mentions specific screenings for pregnant women or those planning a pregnancy. Regular monitoring of various blood tests and a review of signs or symptoms concerning psychiatric disorders are suggested, along with referral to psychiatry as needed.<br /><br />Overall, this checklist provides healthcare professionals with a comprehensive guide to ensure that the necessary evaluations, assessments, examinations, and counseling are performed at different stages of life for individuals with 22q11.2 Deletion Syndrome.
Keywords
22q11.2 Deletion Syndrome
evaluations
assessments
examinations
counseling
genetic testing
echocardiogram
renal ultrasound
ionized calcium levels
psychiatric disorder screening