Treatment of manifestations
• Feeding problems may need to be managed by speech/ feeding therapist and alterative feeding methods (e.g. tube feeding) may need to be considered
• Hypotonia may be improved with physiotherapy
• Peripheral spasticity may benefit from stretching exercises, Botulinum toxin and intrathecal baclofen injection
• Dystonia may show improvement with Levodopa
• Familial exudative vitreoretinopathy (FEVR) may be managed with laser or surgery
Surveillance
• Regular developmental, neurological and growth assessment is beneficial
• Ophthalmologic examinations for refractive error, strabismus, evidence of FEVR
CTNNB1