Management

Management and Treatment
There is currently no specific treatment for conditions caused by changes in the RELN gene.
Care is therefore symptomatic and multidisciplinary, meaning that different specialists work together to manage symptoms, improve development, and prevent complications.
Ideally, care should be coordinated by a child neurologist (neuropediatrician).

Recommended evaluations and follow-up
•    General and neurological check-ups: regular medical visits to monitor growth, movement, muscle tone, and neurological status.
•    Epilepsy management: antiseizure medications are prescribed according to the child’s type of seizures. Seizure frequency and medication tolerance should be reviewed regularly, and EEGs (electroencephalograms) may be repeated when needed.
•    Developmental and cognitive evaluation: assessments help guide early intervention, rehabilitation, and individualized educational programs.
•    Rehabilitation: early start of physical, occupational, and speech therapy is important to support motor, communication, and cognitive skills and to prevent joint and posture problems, especially in children with lissencephaly.

Additional evaluations for children with lissencephaly and cerebellar hypoplasia (LCH)
At least once a year, these children should have:
•    Eye and hearing tests to detect vision or hearing problems.
•    Nutritional assessment and swallowing check-upsto prevent aspiration and ensure good growth.
•    Monitoring of breathing during sleep to identify possible nighttime breathing difficulties or reduced ventilation.
•    Orthopedic and rehabilitation assessments to check for scoliosis, hip issues, or foot deformities such as clubfoot.

A brain MRIis essential for diagnosis and to understand the extent of brain changes. However, repeated MRIs are not usually necessary unless the child’s clinical condition changes. Families should always be offered genetic counseling to understand how the condition is inherited and to discuss the risk for siblings or future pregnancies. This helps parents make informed decisions and access support and family planning options.