Clinical characteristics of 22q11.2 deletion syndrome

learning difficulties

delay in motor and language milestones

usually mild intellectual disability (Full Scale Intelligence Quotient [FSIQ] range 55 to 85); a minority have average intellectual function

verbal IQ is usually higher than performance IQ, verbal memory is better than visuospatial memory, and reading performance better than mathematics

90%

congenital heart disease

conotruncal malformations (eg tetralogy of Fallot, ventricular septal defect, interrupted aortic arch)

around 75%

immune system abnormalities

secondary to thymic hypoplasia

mild immunodeficiency is common, tends to improve with age and usually does not require active management; severe immunodeficiency is rare (less than 1%); autoimmune diseases are more common than in the general population

recurrent upper respiratory infections common, but opportunistic infections are rare

around 75%

palatal abnormalities

cleft palate, submucous cleft palate, velopharyngeal incompetence

feeding and swallowing difficulties in infancy

around 70%

associated facial features

protuberant ears, ‘hooded’ eyelids, prominent nasal root, bulbous nasal tip

over 60%

hypocalcaemia

common in neonatal period, but usually normalises with age

associated with hypoparathyroidism

17 to 60%

psychiatric disorders

schizophrenia—onset peaks in late adolescence; psychotic symptoms can be gradually progressive or episodic in nature; those with lower baseline cognition, function and a history of mood disturbance are at highest risk

anxiety, depression, phobias, perseveration, difficulty with social interactions, autism symptoms, attention deficit disorder, emotional and behavioural difficulties are more common than in the general population

disruptive behaviours are less common than in other disorders with intellectual impairment

25 to 35%

kidney anomalies

common (eg single kidney, multicystic dysplastic kidney)

around 30%