Management

There is no cure for the genetic change in STAG1at this time, but many things can be done to support development, health, and quality of life.

Support for development and learning
•    Early access to physiotherapy (to help motor skills such as sitting and walking)
•    Occupational therapy (to support fine motor skills and daily activities)
•    Speech and language therapy, including consideration of communication aids (pictures, signs, tablets) if speech is limited
•    Individual educational plans, special education, or classroom support depending on the child’s needs

Behaviour and mental health
•    Assessment for autism spectrum disorder, ADHD, anxiety, or sleep problems when needed
•    Behavioural strategies and, if appropriate, support from child psychologists or psychiatrists

Seizure management
•    If seizures occur, a paediatric neurologist should be involved. Treatment follows standard epilepsy guidelines, and many children respond to usual epilepsy medicines.

Hearing and vision
•    Regular checks by an ear, nose and throat (ENT) doctor and an audiologist to detect and treat hearing problems
•    Regular eye examinations to detect vision problems early

Other medical care
•    Heart ultrasound (echocardiogram) at least once if there is concern about a heart problem
•    Follow-up by orthopaedic doctors and physiotherapists if there are spine or joint problems (e.g. scoliosis or clubfoot)
•    Monitoring of growth, feeding, and nutrition, with support from a dietician if needed

Follow-up
Children and adults with a STAG1-related condition should be seen regularly by a paediatrician or clinical geneticist to review development, health, and support needs. As we learn more about this condition, recommendations for follow-up may be updated.