Table 2:
Psychiatric, neurologic, and other medical problems in individuals with the 1q21 deletion or duplication.
| Psychiatric disorder (DSM-IV-TR code) | Deletion (N = 19) |
Duplication (N = 17) |
Significance (Fisher’s exact) |
|---|---|---|---|
| N (%) | N (%) | ||
| ADHD (314.00, 314.01, 314.9) | 1 (5%) | 5 (29%) | P = 0.07 |
| Anxiety and mood disorders (300.0, 300.02, 300.4, 300.9) | 5 (26%) | 3 (18%) | |
| Phonological processing disorder (315.39) | 2 (10%) | 1 (6%) | |
| Behavior disorder (312.9, 313.82) | 0 (0%) | 3 (18%) | P = 0.09 |
| Autism spectrum disorder (299.00, 299.80) | 2 (10%) | 7 (41%) | P = 0.05 |
| Developmental coordination disorder (315.4) | 3 (16%) | 4 (23%) | |
| Language disorder (315.31, 315.32, 307.9) | 1 (5%) | 2 (12%) | |
| Learning disorder (315.0, 315.1, 315.2, 315.9) | 1 (5%) | 1 (6%) | |
| Intellectual disability (317, 318, 319) | 2 (10%) | 5 (29%) | |
| Medical disorders | N = 12 | N = 11 | |
| Cataracts | 4 (33%) | 0 | |
| Cardiac problema | 4 (33%) | 3 (27%) | |
| Celiac disease | 0 | 1 (9%) | |
| Inflammatory bowel disease | 2 (17%) | 1 (9%) | |
| Gastric ulcer | 1 (8%) | 3 (27%) | |
| Genitourinary problem (urethral stricture) | 0 | 1 (9%) | |
| Hypothyroid | 2 (17%) | 1 (9%) | |
| Infertility (in adult carriers) | 1 (33%) | 0 | |
| Short stature | 6 (50%) | 3 (27%) | |
| Diabetes | 1 (8%) | 1 (9%) | |
| Recurrent infections | 1 (8%) | 1 (9%) | |
| Scoliosis | 1 (8%) | 4 (36%) | |
| Craniosynostosis | 1 (8%) | 0 | |
| Polydactyly | 1 (8%) | 0 | |
| Cleft palate | 0 | 1 (9%) | |
| Best available neurologic history diagnoses | N = 18 | N = 19 | |
| Hypotonia | 7 (39%) | 3 (16%) | |
| Hypertonia | 0 (0%) | 0 (0%) | |
| Weakness | 0 (0%) | 1 (5%) | |
| Macrocephaly | 0 (0%) | 5 (26%) | P = 0.05 |
| Microcephaly | 4 (22%) | 0 (0%) | P = 0.05 |
| Tics/Tourette | 2 (11%) | 0 (0%) | |
| Tremor, dystonia, chorea, or ataxia | 0/17 (0%) | 0/18 (0%) | |
| Cranial nerve disorder | 3 (17%)b | 1 (5%)b | |
| Neuropathy | 0/17 (0%) | 0/18 (0%) | |
| Myopathy | 0/17 (0%) | 0 (0%) | |
| Febrile seizures | 0 (0%) | 0 (0%) | |
| Unprovoked seizures/epilepsy | 3/17 (18%) | 0 (0%) | P = 0.1 |
| Neurologic examination findings | N = 18 | N = 19 | |
| Sacral dimple | 2/17 (12%) | 3 (16%) | |
| Articulation abnormality | 4/17 (24%) | 6/16 (38%) | |
| Extraocular muscle weakness | 0 (0%) | 2 (11%) | |
| Difficulty with convergence | 2/15 (13%) | 5/15 (33%) | |
| Esotropia/exotropia | 1 (6%; eso) | 1 (5%; exo) | |
| Smooth pursuit | 1 (6%) | 0/18 (0%) | |
| Facial diplegia/hypotonia/drooling | 1 (6%) | 2/16 (12%) | |
| Diffuse low bulk | 0 (0%) | 0 (0%) | |
| Truncal and/or symmetric limb hypotonia | 6 (33%) | 7 (37%) | |
| Limb weakness | 1 (6%)c | 0 (0%) | |
| Any hyporeflexia | 1/17 (6%) | 6/18 (33%) | P = 0.09 |
| Any hyperreflexia/clonus | 6/17 (35%) | 5/18 (28%) | |
| Dystonia, chorea, or ataxia | 0 (0%) | 0 (0%) | |
| Tic | 3 (17%) | 0 (0%) | P = 0.1 |
| Tremor | 8 (44%) | 6 (32%) | |
| Upper or lower extremity dysrhythmia (tapping) | 2/16 (12%) | 1/12 (8%) | |
| Dysmetria (finger-nose-finger and/or heel-knee-shin) | 0/16 (0%) | 1/12 (8%) | |
| Agility abnormalitiesd | 3/17 (18%) | 7/18 (39%) | |
a
In the children, one has an arrhythmia, and three have congenital heart defects. In the adults, three have possible arrhythmias.
b
Hearing loss (see text).
c
Mild weakness in one lower extremity.
d
Abnormalities with casual gait (wide-based, waddling, shuffling, toe-walking, or bilateral decreased arm swing); jumping (≥3 years old); hopping (≥5 years old); standing on one foot (≥6 years old); and/or heel, toe, or tandem (≥6 years old) gaits.
Note: significant and trending p values <1.0 are reported above.