TBR1

Management

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