Management & Surveillance Recommendations
The TBRS Community would like to share a set of recommendations for initial clinical management and ongoing surveillance in TBRS. These recommendations were published in the GeneReview for Tatton Brown Rahman Syndrome (click here to view the full document).
These recommendations may be shared with clinicians and healthcare professionals to guide the clinical management of TBRS.
See recommendations below:
Initial Management Recommendations (immediately following TBRS diagnosis)
| System | Evaluation | More information |
|---|---|---|
| Constitutional | Measurement of weight, length/height, & head circumference | Assess for macrosomia. |
| Development | Developmental assessment | Assess motor, adaptive, cognitive, & speech/language evaluation. Evaluate for early intervention / special education. |
| Psychiatric / Behavioral | Neuropsychiatric evaluation | (For individuals over 12 months) screening for behavior concerns including sleep disturbances, ADHD, anxiety, & traits suggestive of ASD. |
| Neurologic | Neurologic evaluation | Consider brain MRI (if clinical symptoms) & consider EEG (if seizures are a concern). |
| Musculoskeletal | Orthopedics / physical medicine & rehab / PT & OT evaluation | Assessment of gross & fine motor skills, joint hypermobility, kyphoscoliosis, mobility, ADL, need for adaptive devices, & need for physical / occupational therapy. |
| Cardiovascular | Baseline echocardiogram | Assess for structural heart defects & aortic dilatation. |
| Respiratory | Polysomnography | Assess for sleep apnea (if suggested by clinical symptoms). |
| Genitourinary | Exam for cryptorchidism in males | Consider assessment for vesicoureteral reflux in those with a history of recurrent urinary tract infections. |
| Hematologic / Lymphatic | Consider complete blood count (CBC) with differential | Inform patients/families of potential risk of hematologic malignancy, with an emphasis on symptom awareness. A low threshold should be adopted for investigation for malignancy (in case of symptoms). |
| Genetic counseling | By genetics professionals | Inform affected persons & their families of the nature, inheritance, & implications of TBRS to facilitate medical & personal decision making. |
| Family support & resources | Assess the need for community support or online resources, social work involvement for parental support, & home nursing referral. |
Ongoing Surveillance Recommendations
| System | Evaluation | Frequency |
|---|---|---|
| Development | Monitor developmental progress & educational needs. | Every visit |
| Psychiatric / Behavioral | Behavior assessment for anxiety, attention, & aggressive or self-injurious behavior. | Every visit |
| Neurologic | Monitor those with seizures. Assess for new manifestations such as seizures & changes in tone. | Every visit |
| Musculoskeletal | Physical medicine, occupational / physical therapy assessment of mobility, kyphoscoliosis, & pain. | Every visit |
| Respiratory | Assess for signs & symptoms of sleep apnea & infections. | Every visit |
| Hematologic / Lymphatic | Assess for signs & symptoms of blood malignancy. | Every visit |
| Family / Community | Assess family need for social work support & care coordination. | Every visit |
| Cardiovascular | Echocardiogram to assess aortic root indices. | Ongoing surveillance will be determined by size of aortic root, advice of cardiologist, health care framework, & data from longitudinal studies. |
If you have any questions about these recommendations, please reach out to our Research Coordinator at [email protected].
Ostrowski PJ, Tatton-Brown K. Tatton-Brown-Rahman Syndrome. 2022 Jun 30. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Available from: https://www.ncbi.nlm.nih.gov/books/NBK581652/
