Clinical care should include a multidisciplinary team of subspecialists, nutritionists, developmental pediatricians, social worker, physical, speech, feeding and occupational therapists. The following evaluations are recommended for any newly diagnosed individual with a TBR1-related disorder.
• Identification of medical home (complex care service or similar)
• Developmental Pediatrics (Neurodevelopmental assessment to guide developmental support)
• Early developmental intervention (speech, feeding, occupational and physical therapies)
• Ophthalmology (baseline evaluation and follow-up as needed)
• Audiometry (baseline evaluation and follow-up as needed)
• Neurology (baseline evaluation, EEG and MRI as indicated)
• Clinical Genetics (baseline evaluation, precise phenotyping, genetic counselling)
• Primary Care Pediatrics (continued follow-up as need for General Pediatric concerns)
• Additional evaluations may include Nutrition/Feeding, Orthopedics as indicated
o Orthopedic check if necessary
TBR1