Table 6.

Treatment of Manifestations in Individuals with KAT6B Disorders

Manifestation/
Concern		TreatmentConsiderations/Other
DD/ID See Developmental Delay / Intellectual Disability Management Issues.
Poor weight
gain 		Feeding therapy; gastrostomy tube placement may be required for persistent feeding issues.Low threshold for clinical feeding evaluation &/or radiographic swallowing study when showing clinical signs or symptoms of dysphagia
Contractures Orthopedics / physical medicine & rehabilitation / PT / OT incl surgical release of contractures, stretching to increase joint mobilityConsider need for positioning & mobility devices, disability parking placard.
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.

DD = developmental delay; ID = intellectual disability; OT = occupational therapy; PT = physical therapy

From: KAT6B Disorders

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