PPM - 22q11.2 Deletion Syndrome (2024 version)-Checklist

Checklist

Pdf Summary

The document provides a comprehensive checklist for managing and monitoring patients diagnosed with 22q11.2 deletion syndrome, as of October 2024. Primarily, it recommends confirming the diagnosis through laboratory testing and, when appropriate, conducting parental testing. A three-generation pedigree should be obtained to understand familial genetic patterns. The checklist suggests discussing the diagnosis with the family, focusing on causes, recurrence risks, and potential clinical manifestations, alongside providing educational materials and referrals to support groups.<br /><br />Nutritional assessment should focus on feeding problems, constipation, and growth in children, with diet and exercise counseling for adults. Neurologic and developmental assessments are suggested at diagnosis and annually thereafter. It is essential to review patient history regarding infections, allergies, asthma, autoimmune disorders, and malignancies similarly on an annual basis.<br /><br />The checklist advises an initial evaluation by a cardiologist, including echocardiograms and EKGs, with ongoing follow-up for congenital heart disease. Regular screenings for arrhythmias and dilated aortic root, along with EKGs for patients at risk (e.g., those with hypocalcemia), are recommended. Additional evaluations include cleft palate and velopharyngeal function, speech and language, otolaryngology concerns such as recurrent otitis media, and audiology and ophthalmology assessments.<br /><br />Dental assessments begin at age 2, while endocrinological checks and immunologic assessments, including T and B cell phenotyping and vaccine response evaluations, occur from diagnosis and annually. Renal ultrasound and scoliosis screening, as well as cervical spine radiography, are mentioned at specific ages or as indicated. Annual assessments also involve sleep evaluations, cognitive and learning capacities, psychiatric disorders, and daily living activities, with appropriate support and safety interventions. Regular metabolic and blood tests are advised for ongoing monitoring and during critical periods like surgery and pregnancy.

Keywords

22q11.2 deletion syndrome

diagnosis

genetic testing

familial patterns

nutritional assessment

cardiology evaluation

developmental assessment

immunologic assessment

speech and language

psychiatric disorders