Given the paucity of affected individuals reported, there are currently no specific management and surveillance guidelines for Bachmann-Bupp syndrome (BABS). Symptomatic treatment should be established based on the occurrence of clinical manifestations.
General Advice Includes:
• Assessment by a clinical geneticist to inform patients and families of the implications of BABS in order to facilitate medical and personal decision making
• Measurement of growth parameters to evaluate for overgrowth in infancy/childhood
• Evaluation with gastroenterology, nutrition, and feeding teams to evaluate for aspiration risk, nutritional status, and signs and symptoms of constipation. This evaluation may require the use of a special nipple and or nasogastric tube in infancy. Consideration of evaluation for gastric tube placement in those with dysphagia and or aspiration risk should be taken.
• Developmental assessment to include motor, adaptive, cognitive, and speech/language evaluation. Evaluation for early intervention and/or special education should be considered.
• Neuropsychiatric evaluation for patients age >12 months, screening for behavior concerns including ADHD, aggression, and/or traits suggestive of ASD.
• Neurologic evaluation including consideration of EEG and brain MRI if seizures are a concern.
• Ophthalmologic evaluation to assess for eye alignment and refractive error.
• Audiology evaluation to assess for presence and type of hearing loss.
• Physical exam for follicular cysts with referral to dermatologist if cysts are present.
• Auscultation for heart murmur, including echocardiogram as clinically indicated.
ODC1