Table 5.

Treatment of Manifestations in Individuals with CTNNB1 Neurodevelopmental Disorder

Developmental delay /
Intellectual disability
See Developmental Delay / Intellectual Disability Management Issues.
Poor weight gain /
Failure to thrive
  • Feeding therapy
  • Gastrostomy tube placement may be required for persistent feeding issues.
Low threshold for clinical feeding eval &/or radiographic swallowing study when showing clinical signs or symptoms of dysphagia
Spasticity Orthopedics / physical medicine & rehab / PT & OT incl stretching to help avoid contractures & falls
  • Regular PT w/stretching
  • Botulinum toxin & intrathecal baclofen injection may be considered. 1
  • Consider need for positioning & mobility devices, disability parking placard.
Movement disorders Standard treatment per neurologistTreatment w/levodopa may be considered.
Ophthal-mologic Exudative
Per treating retina specialist
  • For retinal findings only evident on wide-field FA: discuss w/treating retina specialist for consideration of prophylactic laser due to ↑ risk of retinal detachment.
  • For significant retinal findings: argon laser photocoagulation, scleral buckling &/or pars plana vitrectomy to attempt to halt progressive changes & ↓ complications 2
Low vision Low vision servicesCommunity services through early intervention &/or school district
Refractive errors
& strabismus
Per treating ophthalmologist
  • 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.

FA = fluorescein angiogram; OT = occupational therapy; PT = physical therapy


From: CTNNB1 Neurodevelopmental Disorder

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