Management

Management
Treatment is typically multidisciplinary based on symptoms and should ideally be coordinated by a clinical geneticist. The following specialty referrals and studies should be considered:
•    Neurology due to high seizure risk and other possible neuromuscular issues
•    Developmental paediatrics and/or developmental therapies should be started as soon as possible due to high risk for developmental delays and neurodevelopmental issues
•    Cardiology and/or echocardiogram and EKG due to risk for cardiac defects
•    Gastroenterology if feeding/growth issues are present
•    Audiology evaluation
•    Renal ultrasound
•    Thyroid studies (TSH, T4) and immunoglobulins due to abnormalities reported in a small number of previous patients
•    Ophthalmology due to ophthalmologic manifestations reported in some patients

Genetic Counselling
The affected individual’s parents are typically both carriers of OTUD6B-associated disorder and should be offered confirmational genetic testing. When both parents are heterozygous for an OTUD6B pathogenic variant, each child has a 25% risk of inheriting both OTUD6B pathogenic variants. Families should receive counselling about autosomal recessive inheritance. The availability of prenatal genetic testing and preimplantation genetic diagnosis should be discussed.