Table 2.
Birth histories and neurodevelopmental and psychiatric disorders in patients with 22q11.2 deletions.
| Case no. | Birth history | Speech delay | Growth delay | Motor delay | Intellectual disability | Psychiatric disorder |
|---|---|---|---|---|---|---|
| 1 | NA | At 4 y | – | Fine motor delay at 11 y | At 4 y | ADHD, ASD, anxiety, irritability at 4 y |
| 2 | Born at 31 w; Developed amenia of prematurity and retinopathy | – | – | Gross motor delay at 7 m | – | – |
| 3 | SVD at 39 w with abnormal umbilical cord insertion | At 3 y | – | Fine motor and gross motor delay at 3 y | – | ADHD, ASD, sleep disorder and anxiety at 2 y |
| 4 | – | – | – | – | – | – |
| 5 | – | Borderline communication delay at 4 y | Poor weight gain in infancy | Fine motor and gross motor delay at 4 y | – | – |
| 6 | Born at 30 w | At 5 y | Hypotonia and failure to thrive in childhood | Fine motor and gross motor delay at 5 y; Walked at 18 m | Unspecified intellectual delay | ADHD, anxiety, irritability at 5 y |
| 7 | Borderline small for gestational age | At 4 y | – | – | – | – |
| 8 | Stayed in hospital after birth for 1 y with respiratory infections | Noted delay at 6 m; Spoke in single words until 3 y | – | Hypotonia; Did not sit until 1 y; Walked at 2.5 y; Fine motor and gross motor delay at 7 y | At 7 y | – |
| 9 | Echogenic cardiac foci on ultrasound; Tracheomalacia; Macrosomia; Hypoparathyroidism; Hypocalcemia; Asthma; Anemia of newborn; Weak cry | Mixed receptive-expressive disorder at 8 m | – | Fine motor and gross motor delay at 2 m | – | – |
| 10 | Delivered at 35 4/7 w by C-section; Anemia, spontaneous pneumothorax; Respiratory distress; Died at 8 d | NA | NA | NA | NA | NA |
| 11 | Delivered at 32 1/2 w by C-section; Born cyanotic in respiratory distress; Resuscitated after 3 minutes | – | – | – | – | Seizure like activity in NICU |
| 12 | Mother used tobacco and cannibis during pregnancy; Delivered by C-section; Child needed resuscitation at birth | – | Poor weight gain at 15 m | – | – | – |
| 13 | Delivered by C-section | At 2 y | Small for age at 2 y; Slow weight gain | Fine motor and gross motor delay at 2 y | – | ADHD and ASD at 2 y |
| 14 | Born at 37 w; Slight jaundice after birth | Mixed receptive-expressive language disorder at 13 m | At 6 y | Fine motor and gross motor delay at 13 m | At 6 y | ADHD at 5 y |
| 15 | NA | – | – | – | – | ADHD |
| 16 | Anemia; Persistent pulmonary hypertension of newborn | NA | NA | NA | NA | NA |
Notes: –, no abnormal features reported in the patient; ADHD, attention-deficit hyperactivity disorder; ASD, C-section, cesarean section; m, month; NA, information is not available; NICU, neonatal intensive care unit; SVD, spontaneous vaginal delivery; y, year.