Management

Given the rarity of this genetic condition and the absence of specific clinical guidelines, management and follow-up should be tailored to each patient’s individual needs, with the primary goal of promoting maximum autonomy throughout life.

Early and continuous multidisciplinary care is essential. This includes both medical (neurology, psychiatry, genetics, etc.) and non-medical (psychological, educational, and social) support. Children often benefit from specialized educational settings, such as institutes for medico-educational support or other adapted schooling environments, which provide structured learning tailored to their cognitive and behavioral profile.

From a medical standpoint, it is important to ensure regular monitoring of growth, vision, and hearing, as it would be done for any child. A regular pediatric follow-up should be maintained, supplemented by neuropediatric evaluations, and if necessary, child psychiatry support, depending on the child’s developmental and behavioral profile. Ongoing support into adulthood remains essential to encourage autonomy, social participation, and optimal quality of life.

The parents of an affected individual may also be offered a genetic counseling consultation to receive information regarding the potential options for prenatal diagnosis.