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 |