22q11.2

Question 1

Incidence rates of 22q11.2

Answer 1

1:4,000 live births but more recent epidemiology studies have suggested 1 in 992 live births

Question 2

Rates of schizophrenia in 22q11.2 deletion syndrome

Answer 2

25-30% compared to 1% of population

Question 3

How does ADHD compare in 22q11.2 to idiopathic ADHD

Answer 3

Have a different phenotype - show fewer ODD and CD symptoms when compared to idiopathic ADHD

Have more GAD than hyperactivity

Question 4

Other names for 22q11.2 deletion syndrome

Answer 4

DiGeorge syndrome and velocardiofacial syndrome

Question 5

Medical conditions associated with 22q11.2 deletion syndrome

Answer 5

Congenital heart disease, hypocalcemia, hyperprolinemia, renal abnormalities, immune deficiencies, cleft palette, dysmorphic features, and structural brain abnormalities

Question 6

Three most notable risks for 22q11.2

Answer 6

See autism, ADHD, anxiety, and schizophrenia (just deletion)

Question 7

What causes 22q11.2 syndrome

Answer 7

Either microdeletion or microduplication of the chromosome 22 band q11

Question 8

Neuropsychological findings with 22q11.2 syndrome

Answer 8

Majority have intellectual ability within the borderline range IQ (70-84). 1/3 have mild ID. More severe ID is uncommon

Early childhood show nonverbal learning deficits but not a distinction during adolescence

Deficits also seen in visual memory as well as IQ and achievement (robust finding)

Question 9

Predictive factors of psychotic onset

Answer 9

Decline in IQ is one of the most reliable predictors particularly decline in verbal IQ = show onset a year after decline

Processing speed, verbal memory, attention, and working memory are also deficient before onset of schizophrenia

Verbal fluency and inhibition

Question 10

Good predictive measure for schizophrenia

Answer 10

Perseveration errors on WCST and cognitive flexibility are a very robust predictor of prod prodrome/overt psychotic symptoms in adult

Question 11

Behavioral factors that are predictive of schizophrenia

Answer 11

Negative psychotic symptoms - blunted affect, poverty of speech and thought, apathy, anhedonia, reduced social drive, loss of motivation, lack of social interest, and in attention to social or cognitive input

Question 12

When does onset of schizophrenia typically occur with 22q11.2

Answer 12

Late adolescence

Question 13

Neuropsychological findings for 22q11.2 deletion syndrome and psychosis

Answer 13

More severe neurocognitive deficits especially in executive functions, social cognition, and episodic memory

Question 14

Developmental coordination disorder in 22q11.2DS

Answer 14

84% have disorder and is associated with high risk for ADHD, ASD, and anxiety

Question 15

Dysmorphic features for 22q11.2 syndrome

Answer 15

Cleft palate, failure for teeth to develop, wide spaced eyes, low set ears, long face, and short stature

Question 16

Rates of ADHD in 22q11.2

Answer 16

37%

Question 17

Rates of autism in 22q11.2

Answer 17

50% with DS and 38% with DupS - less with stricter ADR or ADOS criteria

Question 18

Physical symptoms in 22q11.2 syndrome

Answer 18

Flaccid muscles, intermittent muscle spasms, speech impairment, nasal voice, frequent infections, and hyperactivity