Management of people with 22q11.2 deletion syndrome

There is a wide range of clinical presentations in people with 22q11.2 deletion syndrome—management should be tailored to the individual. Use a multidisciplinary approach and involve specialists (eg cardiology, immunology, psychiatry, ear nose and throat) as needed.

Initial assessments are recommended at the time of diagnosis of 22q11.2 deletion syndrome (see Initial assessments after a diagnosis of 22q11.2 deletion syndrome); repeat assessments as needed according to initial findings, age and life stage. For an outline of the role of the general practitioner in the assessment of developmental delay and disability, see Initial assessment in general practice.

Figure 1. Initial assessments after a diagnosis of 22q11.2 deletion syndrome

medical history, physical examination, systems review

developmental assessment (eg milestones, school performance)

assessment of growth and BMI

pathology tests relevant to 22q11.2 deletion syndrome (ie ionised calcium, parathyroid hormone, TSH, complete blood cell count, electrolytes, liver function, lipid profile, glucose, HbA1c)

cardiac assessment

immunology assessment

ophthalmology assessment

ENT assessment

audiology assessment

dental assessment

kidney ultrasound

behavioural assessment (ie socialisation, emotional wellbeing, support needs)

neuropsychiatric assessment

genetic counselling

gynaecologic and contraceptive assessment

Note: BMI = body mass index; ENT = ear, nose and throat; HbA1c = glycated haemoglobin; TSH = thyroid stimulating hormone

For young children with 22q11.2 deletion syndrome, conduct regular speech, language and developmental assessments. Involve early intervention services as needed; see Early childhood intervention services. A functional baseline assessment in adolescence may be helpful to inform psychiatric evaluation and support needed when transitioning to adult health care.

Neuropsychiatric manifestations of 22q11.2 deletion syndrome are often the greatest concern to patients and their families due to their frequency, seriousness, associated stigmatisation and management challenges. Schizophrenia in 22q11.2 deletion syndrome presents similarly to schizophrenia in the general population, and standard management is recommended, including antipsychotic medications; see Psychoses including schizophrenia in people with developmental disability. Early recognition and treatment of psychotic symptoms may improve prognosis.

For more advice on the following health problems that are common in people with 22q11.2 deletion syndrome, see:

For general advice on the role of the general practitioner (GP) in the management of a person with developmental disability, see here.