Table 3. SNIP1-related disorder clinical advice and guidelines.

Medical care:	Children should be under the care of a general or community paediatrician to monitor their general health and development. Clinical management strategies should be targeted at preventing life-threatening complications and optimising psychomotor development.
Seizures:	Children should be under the care of specialist neurology services for careful optimisation of anticonvulsant medications to treat apnea in infancy, maintain seizure control, and prevent status epilepticus and consequent developmental regression. Early EEG should be carried out in infants with suspected apneic episodes. Neuroimaging should be performed at diagnosis.
Congenital heart disease:	Echocardiogram should be performed at diagnosis to screen for congenital heart defects
Gastrointestinal:	We recommend elective gastrostomy tube placement to support growth and limit pulmonary aspiration. An upper gastrointestinal study and renal ultrasound should be considered to screen for congenital anomalies.
Speech and language:	Speech and language therapy should be commenced at an early stage to maximise neurocognitive outcome.
Motor development:	Physical and occupational therapies should be commenced at an early stage to maximise neurocognitive outcome.
Vision/Hearing:	Yearly ophthalmology and audiology assessments are recommended.
Endocrine:	Infants and children should be monitored for hypoglycaemia and hypothyroidism as these are easily treatable.
Behavioural abnormalities:	Behavioural therapy (including Applied Behaviour Analysis) is beneficial in older affected children who have autism spectrum disorder.
Sleep:	Many children experience sleep dysregulation. Melatonin has been used successfully in some children.
Education:	An assessment of special educational needs should be carried out so that an individualized educational plan can be put in place at school. Some children have behavioural difficulties requiring additional support and one-to-one instruction.

These guidelines are based on the most commonly identified features in individuals with SNIP1-related disorder. There is a wide range in variability of the clinical presentation and individual patients should have a personalized plan to reflect their own clinical features.