Table 5.

Supportive Treatment of Manifestations in Individuals with Bachmann-Bupp Syndrome

Manifestation/
Concern		TreatmentConsiderations/Other
Feeding
difficulties
  • Feeding therapy
  • Special nipple or nasogastric tube may be required.
  • Gastrostomy tube placement may be considered for persistent feeding issues.
Low threshold for clinical feeding eval &/or radiographic swallowing study if clinical signs or symptoms of dysphagia
Obesity/
Overgrowth 		Nutritional interventionConsider restricting caloric intake.
Constipation Stool softeners, prokinetics, osmotic agents, or laxatives as needed
DD/ID See Developmental Delay / Intellectual Disability Management Issues.Incl social/behavioral concerns
Epilepsy Standardized treatment w/ASM by experienced neurologist
  • Many ASMs may be effective; none has been demonstrated effective specifically for BABS.
  • In 1 person, epilepsy was refractory to multiple ASMs, ketogenic diet, & vagal nerve stimulators. 1
  • Education of parents/caregivers 2
Refractive error &/or
strabismus 		Standard treatment(s) as recommended by ophthalmologist
Hearing loss Standard treatment per audiologist
Follicular
cysts 		Standard treatment per dermatologistMay require surgical drainage
Congenital
heart defects 		Standard treatment per cardiology
Family/
Community
  • Ensure appropriate social work involvement to connect families w/local resources, respite, & support.
  • Coordinate care to manage multiple subspecialty appointments, equipment, medications, & supplies.
  • Ongoing assessment of need for palliative care involvement &/or home nursing
  • Consider involvement in adaptive sports or Special Olympics.

ASM = anti-seizure medication; DD/ID = developmental delay / intellectual disability

1.
2.

Education of parents/caregivers regarding common seizure presentations is appropriate. For information on non-medical interventions and coping strategies for children diagnosed with epilepsy, see Epilepsy Foundation Toolbox.

From: Bachmann-Bupp Syndrome

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