LIS1

Management

To establish the extent of disease in a patient with LIS1/PAFAH1B1-associated lissencephaly/ subcortical band heterotopia, a clinician should evaluate growth, feeding and nutrition, respiratory status, development and seizures. MRI should be interpreted carefully to provide as much prognostic information as possible.

Poor feeding in newborns is usually managed by nasogastric tube feedings, as the feeding problems often improve during the first weeks of life. But they often worsen again with intercurrent illnesses and advancing age and body size.

Seizures can be difficult to control. In general, they should be treated promptly and aggressively by specialists, as poor seizure control frequently results in decline in function and health. However, overtreatment should be avoided as it may cause the child to be too sedated and certain antiseizure medications may favour respiratory infections to which these children are particularly vulnerable.