Investigation | Upon diagnosis | Follow-up |
---|---|---|
Thorough neurologic investigation |  +  | i |
 Brain MRI |  +  | i |
 EEG | i* | i* |
Thorough ophthalmological investigation with special attention paid to the anterior segment |  +  | a |
 Refraction measurements |  +  | a |
 Eye-pressure measurement |  +  | a |
Hearing assessment |  +  | a/i** |
 Imaging of the os petrosum | i*** | i*** |
Cardiac ultrasound |  +  | i |
Attention for lip and/or palate abnormalities |  + , if deletion > 4.02 Mb | i |
Attention for tooth abnormalities |  +  | a/i** |
 Referral to dental specialist | i | i |
Attention for feeding problems and gastro-intestinal issues |  +  |  +  |
Renal ultrasound |  + , if deletion > 4.02 Mb | i |
Be aware of recurrent ear and respiratory tract infections |  +  |  +  |
Assessment of growth and posture |  +  | a/i** |
 Attention for foot deformities, scoliosis and epiphyseal dysplasia |  +  |  +  |
 Referral to orthopaedics and/or rehabilitation specialist | i | i |
Neurodevelopmental assessment |  +  | i |
Attention for sleeping problems |  +  |  +  |