Diagnosis/testing
CELF4 haploinsufficiency can be identified using aCGH. Parents should be tested for possible inheritance of 18q12 deletions and genetic counselling.
Management
Patients with 18q12.2 deletion should undergo to a careful neuropsychiatric evaluation including psychometric testing for intellectual disability and screening for autism spectrum disorder, externalizing disorders and anxiety disorders. Patients with obesity may benefit from evaluations to define an unappropriated food intake. In case of high myopia, repeated ophthalmology evaluations including funduscopy should be performed. Speech therapy and other interventions to augment communication, educational programs directed to specific disabilities identified.
Treatment of manifestations
Antiepileptic drugs and medications used for behavioral and emotional problems may be supporting for patients in addition to speech therapy and other interventions to augment communication and educational programs directed to specific disabilities identified.