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Table 2 Recommended clinical evaluations and management for individuals with 15q24 deletion syndrome

From: Chromosome 15q24 microdeletion syndrome

Specialist Evaluation at time of diagnosis Screening and surveillance
Primary care physician Initiate referrals to subspecialist, monitor growth and development Assess growth parameters and development at each visit
Development clinic Neurocognitive (developmental) and behavioral evaluation At time of diagnosis, then annually in childhood
Geneticist Confirmation of diagnosis and periodic follow-up evaluations At time of diagnosis, then annually
Audiology Routine audiology evaluation At time of diagnosis, then as needed.
Ophthalmology Evaluate for coloboma, visual acuity, nystagmus, strabismus At time of diagnosis, then as needed.
Cardiology Echocardiogram to evaluate for congenital heart defects At time of diagnosis, then as needed
Allergy and Immunology Immune work-up for recurrent and persistent infections As needed
Endocrine Growth hormone studies for growth retardation As needed
Gastroenterology/Feeding and Nutrition Feeding assessment for failure to thrive and growth retardation As needed
Neurology Brain MRI for structural malformations and EEG for seizures As needed
Orthopedics Spine x-rays and scoliosis evaluation As needed
Urology Evaluate for genital abnormalities As needed
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172