TABLE 1.
Summary of STAMBP mutant patients’ early development and evaluation results.
| Subjects | This case | Reported cases |
| Gender | Female | 15/20, male |
| Age | 3 years 11 months | 22 days–12 years |
| Short stature | Yes | 15/20 |
| Microcephaly | Yes | 20/20 |
| Epilepsy | Yes | 20/20 |
| Developmental delay | Yes | 20/20 |
| Autism-like behavior | Yes | 2 (18 NA)/20 |
| Age of walking (months) | 20 | — |
| Age of speaking (months) | Non-verbal at evaluation | Non-verbal at evaluation, 4 (16 NA)/20 |
| Comorbidity | ||
| Feeding problem | Yes | 2 (18 NA)/20 |
| Sleep disorder | No | 2 (18 NA)/20 |
| Clinical evaluations | ||
| Age of GMDS (months) | 35 | — |
| Locomotor | <1st percentile | |
| Personal-social | <1st percentile | |
| Hearing-speech | <1st percentile | |
| Hand-eye coordination | <1st percentile | |
| Performance | <1st percentile | |
| Age of ADOS (months) | 35 | — |
| Social affect | 20 | |
| Restricted and repetitive behavior | 5 | |
| Total score | 25 (ASD cut-off: 11) | |
NA, not available; GMDS, Griffiths Mental Development Scales; ADOS, Autism Diagnostic Observation Schedule, second edition.