Table 6.

Recommended Surveillance for Individuals with Bachmann-Bupp Syndrome

System/ConcernEvaluationFrequency
Growth/Feeding
  • Measurement of growth parameters
  • Eval of nutritional status & safety of oral intake
At each visit
Gastrointestinal Monitor for constipation.
Musculoskeletal OT/PT assessment of mobility & self-help skills
Development Monitor developmental progress & educational needs.
Psychiatric/
Behavioral 		Behavioral assessment for signs of ASD, attention, & aggressive or self-injurious behaviorAnnually
Neurologic Monitor those w/seizures as clinically indicated.At each visit
Assess for new manifestations such as seizures & changes in tone.
Eyes Assessment by an ophthalmologistAnnually or as clinically indicated
Hearing Assessment for signs & symptoms of hearing loss
Skin/hair Complete skin eval for follicular cystsAt least annually
Miscellaneous/
Other 		Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources) & care coordination.At each visit

ASD = autism spectrum disorder; OT = occupational therapy; PT = physical therapy

From: Bachmann-Bupp Syndrome

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