Management

Treatment is symptomatic, multidisciplinary and ideally coordinated by a neuropediatrician. Management of patients with RELN-related disorders remains challenging and still lacks any specific therapeutic approaches.

•    Constitutional and neurological examination
•    Epilepsy management according to clinical presentation: regular review of seizure frequency, antiseizure therapy efficacy/tolerance and EEG recordings.
•    Developmental and cognitive assessment to guide early intervention and tailored educational programs.
•    Rehabilitation programs (physiotherapy, occupational, and speech therapy) should start early to promote motor and cognitive skills and prevent secondary orthopedic complications in LIS patients.

Moreover, for patients with LCH, an annual evaluation should include:
•    Ophthalmological and audiological evaluations to detect visual or hearing impairments
•    Evaluation of nutritional status and aspiration risk, with swallowing assessment as needed.
•    Monitoring of respiratory function to detect early nocturnal hypoventilation and sleep-related breathing disorders.
•    Orthopedic and physiatric evaluation, including assessment for scoliosis, hip dysplasia, or clubfoot.

Brain MRI is essential for the diagnosis and characterization of the disease, whereas serial evaluations are not routinely recommended, except during the initial diagnostic work-up or when there is a change in clinical status.

Genetic counseling is essential, particularly to define the mode of inheritance and assess the recurrence risk for siblings.