• Development should be assessed with a focus on feeding, speech and language problems and autistic features. Treatment of manifestations: speech therapy and other interventions to augment communication, educational programs directed to specific disabilities identified.
  • Psychiatric evaluation in case of behavioral problems.
  • Neurologic evaluation including EEG if seizures are suspected, and brain MRI to detect brain abnormalities.
  • Echocardiography.
  • Renal ultrasound.
  • Ophthalmologic examination and vision assessment.
  • Hearing assessment (especially in those with extended 3p deletions).
  • Consultation of speech therapist
  • Consultation of physiotherapist in case of spasticity.
  • Consultation of oromotor specialist and dietician in case of feeding problems.
  • A regular evaluation of development by a specialized pediatrician is advised.