SLC6A1

Management

No clinical practice guidelines for SLC6A1-related neurodevelopmental disorder (SLC6A1-NDD) have been published yet.
•    Treatment of seizures should be based on seizure semiology and management by an experienced neurologist should be considered.
•    Behavioral issues, sleep issues and bowel dysfunction should be managed by standard interventions.
•    Management should be coordinated, as it might possibly include many subspecialities, equipment, medications, and supplies.
•    Consider education of parents/caregivers.
•    Consider genetic counselling.

Surveillance could include:
•    Paediatric: developmental progress and needs, gastrointestinal issues
•    OT/PT: Assessment of mobility and self-help
•    Neurological: seizure monitoring as needed, assessment for seizures or movement disorders
•    Psychiatric: Assessment of behaviour (ASD, ADHD, aggression, self-injury, anxiety, sleep disorders)
•    Family needs for support (social work support, care coordination, genetic counselling)