SUPPORTIVE TABLE S1
SUPPORTIVE TABLE S1. Comparison of Clinical Diagnostic Signs in Individuals with Pitt-Hopkins syndrome (PTHS) compared to (molecularly confirmed) Angelman Syndrome (AS) and (molecularly confirmed) Rett Syndrome (RTTS), and independent second group of PTHS individuals. 1
| Clinical Diagnostic criteria for PTHS | PTHS | PTHS | AS | RTTS |
|---|---|---|---|---|
| 1st group | 2nd group | |||
| (n=100) | (n=50) | (n=50) | (n=50) | |
| Cardinal | ||||
| 3 or more facial signs | 100/100 | 50/50 | 3/50 | 0/50 |
| Intellectual disability with limited/absent speech | 89/100 | 46/50 | 47/50 | 21/50 |
| Breathing regulation anomalies | 45/96 | 36/49 | 5/50 | 24/50 |
| Supportive criteria | ||||
| Myopia | 49/94 | 28/47 | 2/50 | 0/50 |
| Constipation | 70/93 | 45/49 | 9/50 | 7/50 |
| Hand signs | 50/80 | 41/49 | 9/42 | 3/50 |
| Unstable gait | 57/89 | 28/36 | 46/50 | 5/50 |
- ^ Data of some of the individuals with PTHS, AS and RTTS have been published, other data were unpublished but known to the present authors. All had been evaluated in detail and scores were derived from existing data, to avoid bias
