Management

Management
Currently there is no curative treatment available.
Treatment is directed by the symptoms, is multidisciplinary and should include a pediatrician experienced with developmental delay and a neuropediatrician.
For developmental delay, early intervention by referral to occupational, physical, speech, and feeding therapy as well as special educators is important. Developmental evaluation is recommended to determine needed services and therapies and to determine an appropriate education plan.
If epilepsy is present, standardized treatment with antiepileptic drugs is used as recommended by an epileptologist. No specific antiepileptic drug has been demonstrated effective specifically for this disorder.

Genetic Counselling
The CYFIP2-related neurodevelopmental disorder follows an autosomal-dominant inheritance pattern.
If the pathogenic variant occurred de novo in the patient (i.e. it was not detected in the parents), the recurrence risk in subsequent pregnancies of the proband’s parents is low (approx. 1% due to the possibility of germline mosaicism). Prenatal diagnosis is possible.
If the pathogenic variant was inherited from an affected parent, the recurrence risk in subsequent pregnancies of the affected parent is 50%.
For offspring of the patient, the recurrence risk is 50%.