Management of individuals with pathogenic variants in ZNF668is supportive and multidisciplinary, tailored to the neurological, growth, feeding, and systemic manifestations observed in each individual.
Neurological management
• Monitor for developmental delay and intellectual disability; early referral to physiotherapy, occupational therapy, and speech/language therapy.
• Brain MRI at diagnosis to evaluate structural abnormalities such as heterotopia or cerebellar findings.
• Surveillance for seizures; EEG and appropriate initiation of anti-seizure medications if clinically indicated.
• Ongoing assessment for spasticity or hypotonia, with referral to rehabilitation services.
Growth and feeding management
• Regular monitoring of weight, length/height, and head circumference.
• Management of feeding difficulties in collaboration with nutritionists and feeding specialists.
• Evaluate for failure-to-thrive and consider high-calorie supplementation or enteral support if needed.
Craniofacial and dysmorphic features
• Dental and maxillofacial follow-up for palate abnormalities or prognathism if relevant.
Other systemic surveillance
• Abdominal ultrasound if hepatomegaly is noted or suspected.
• Monitoring for orthopedic issues (e.g., broad thumbs, large toes) if they affect function.
Developmental and psychosocial support
• Early-intervention programs for global developmental delay.
• Long-term neurodevelopmental follow-up to address learning, communication, and functional needs.
• Family support, genetic counselling, and connection to individual support groups when available.
Genetic counselling
• Families should receive counselling about autosomal recessive inheritance, carrier testing for parents and siblings, and options for prenatal or preimplantation genetic testing in future pregnancies.
ZNF668