Table II.
Recommended assessments for 22q11.2 deletion syndrome*
| Assessment | At diagnosis |
Infancy (0–12 months) |
Preschool age (1–5 years) |
School age (6–11 years) |
Adolescence (12–18 years) |
Adulthood (>18 years) |
|---|---|---|---|---|---|---|
| Ionized calcium, parathyroid hormone† | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ |
| Thyrotropin (thyroid-stimulating hormone)† | ✓ | ✓ | ✓ | ✓ | ✓ | |
| Complete blood cell count and differential (annual) | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ |
| Immunologic evaluation‡ | ✓ | ✓§ | ✓§ | |||
| Ophthalmology | ✓ | ✓ | ||||
| Evaluate palate¶ | ✓ | ✓ | ✓ | |||
| Audiology | ✓ | ✓ | ✓ | ✓ | ||
| Cervical spine (>age 4 years) | ✓|| | |||||
| Scoliosis examination | ✓ | ✓ | ✓ | |||
| Dental evaluation | ✓ | ✓ | ✓ | ✓ | ||
| Renal ultrasound | ✓ | |||||
| Electrocardiogram | ✓ | ✓ | ||||
| Echocardiogram | ✓ | |||||
| Development** | ✓ | ✓ | ✓ | |||
| School performance | ✓ | ✓ | ||||
| Socialization/functioning | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ |
| Psychiatric/emotional/behavioral†† | ✓ | ✓ | ✓ | ✓ | ✓ | |
| Systems review | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ |
| Deletion studies of parents | ✓ | |||||
| Genetic counseling‡‡ | ✓ | ✓ | ✓ | |||
| Gynecologic and contraceptive services | ✓ | ✓ |
These recommendations are proposed as at year end 2010. Each ✓ refers to a single assessment except as stated above and below. We have tended to err on the side of overinclusiveness. Local patterns of practice may vary.
In infancy, test calcium levels every 3 to 6 months, then every 5 years through childhood, and every 1 to 2 years thereafter; thyroid studies annually. Check calcium preoperatively and postoperatively and regularly in pregnancy.
In addition to complete blood cell count with differential, in newborns: flow cytometry; and at age 9 to 12 months (before live vaccines): flow cytometry, immunoglobulins, T-cell function. Expert opinion is divided about the extent of needed immune work-up in the absence of clinical features.
Evaluate immune function before administering live vaccines (see ‡).
In infancy, visualize palate and evaluate for feeding problems, nasal regurgitation, or both; in toddlers to adults, evaluate nasal speech quality.
Cervical spine films to detect anomalies: anterior/posterior, lateral, extension, open mouth, skull base views. Expert opinion is divided about the advisability of routine radiography. Symptoms of cord compression are an indication for urgent neurological referral.
Motor and speech/language delays are common; rapid referral to early intervention for any delays can help to optimize outcomes.
Vigilance for changes in behavior, emotional state, and thinking, including hallucinations and delusions; in teens and adults, assessment would include at-risk behaviors (sexual activity, alcohol/drug use, etc).
See text for details.