In instances of feeding difficulties requiring assistance, supportive measures such as gastric tube feeding may be considered.
Most patients with hypotonia and fine and gross motor delays can benefit from occupational and physical therapy.
Speech and language therapy can be used to improve communication. Sign language therapy can be employed in severely affected, non-verbal cases.
Children with behavioural anomalies, particularly anxiety, ADHD and autistic features, may benefit from individual evaluation and institution of appropriate treatment modalities when necessary.
Given that all affected individuals present with intellectual disability early individualised educational intervention may be required.
Neurological evaluation, including brain MRI, should be considered in children that present with additional neurological features such as unstable gait and progressive dystonia.
Eye abnormalities such as strabismus and vision abnormalities have been reported in a few individuals and formal evaluation may be required.
Variable additional clinical features (observed in 1 or 2 patients so far) may warrant further evaluation and treatment: congenital heart defect, hydronephrosis, lacrimal duct stenosis, teeth abnormalities, esophageal atresia, hypothyroidism, craniosynostosis, joint laxity and cryptorchidism.