Management

Management is symptomatic and multidisciplinary, tailored to the individual’s needs.
•    Neurodevelopmental care: Early initiation of physiotherapy, occupational therapy, and speech and language therapy is recommended to address gross motor delay, fine motor skills, feeding difficulties, and expressive/receptive language delay. Assessment for augmentative and alternative communication (AAC) may be helpful in children with severe speech impairment.
•    Behavioural / psychiatric care: Regular screening for autism spectrum disorder, ADHD, anxiety, and behavioural dysregulation. Evidence-based behavioural interventions (e.g. ABA-based programmes, social skills training) and child psychiatry input as needed.
•    Epilepsy management: Standard epilepsy work-up and treatment according to seizure type. No specific antiseizure medication has been shown to be uniquely effective for STAG1-related epilepsy; choice of drug follows general paediatric neurology practice.
•    Vision and hearing: Baseline and follow-up ophthalmologic and audiologic evaluations, particularly in the presence of microphthalmia, strabismus, refractive error, or microtia/ear anomalies.
•    Growth, nutrition, and gastrointestinal: Monitoring of growth parameters, feeding difficulties, and gastro-oesophageal reflux; referral to a dietician and, if indicated, feeding therapy or gastrostomy according to standard indications.
•    Musculoskeletal and orthopaedic issues: Clinical and, if indicated, radiologic assessment for scoliosis, vertebral anomalies, joint contractures, and deformities such as clubfoot. Orthopaedic management and physiotherapy should follow usual protocols.
•    Cardiac assessment: At least one baseline echocardiogram is reasonable, as congenital heart defects have been described, though not consistently.

Surveillance
•    Regular follow-up with paediatrics/clinical genetics and neurology or developmental paediatrics to monitor development, behaviour, seizures, growth, and emerging comorbidities.
•    Ophthalmologic and audiologic re-evaluation as clinically indicated.
•    Re-assessment of educational and therapeutic needs throughout childhood and adolescence.

There are currently no genotype-directed treatments; however, molecular confirmation is important for prognosis, recurrence risk counselling, and eligibility for future natural history or therapeutic studies.