Table 1.
Summary of Growth and Development, Dysmorphic, Cognitive, Behavioural and Psychiatric Features with Other Related Medical Concerns Reported in 15q11.2 BP1-BP2 Microdeletion Disorder
| CATEGORY* | Total (%) |
|---|---|
| Growth and Development | |
| Microcephaly | 9/38 (24) |
| Developmental delay (general) | 126/172 (73) |
| Motor delay | 66/158 (42) |
| Speech delay | 99/148 (67) |
| Dysmorphic Features | |
| Dysmorphism, unspecified | 55/141 (39) |
| Broad forehead | 8/39 (21) |
| Dysmorphic ears | 9/39 (46) |
| Palatal abnormalities | 9/39 (46) |
| Intelligence and Academic Achievement | |
| ID with FSIQ ≤75/special education | 43/116 (37) |
| Verbal IQ ≤75 | 2/4 (50) |
| Performance IQ ≤75 | 1/3 (33) |
| Reading difficulties | 4/7 (57) |
| Writing difficulties | 3/5 (60) |
| Memory problems | 3/5 (60) |
| Behavioural and Psychiatric Problems | |
| General behaviour problems, unspecified | 75/136 (55) |
| Autism spectrum disorder | 43/161 (27) |
| Schizophrenia/paranoid psychosis | 4/20 (20) |
| OCD | 18/68 (26) |
| ODD | 16/68 (24) |
| ADD/ADHD | 28/80 (35) |
| Self-injurious behaviours | 18/68 (26) |
| Other Related Medical Concerns | |
| Seizures/epilepsy | 57/216 (26) |
| Ataxia/balance issues | 22/78 (28) |
| Abnormal brain imaging | 32/75 (43) |
*
Found in at least 20% of reported individuals and modified from Cox and Butler, 2015