Table 1 Characteristics of the ASD patient presenting with a TBR1 pathogenic variant
From: A de novo frameshift pathogenic variant in TBR1 identified in autism without intellectual disability
Patient | References | ||||
|---|---|---|---|---|---|
ADOS | Communication subscore | 4 | ↑ | Threshold: 2 | |
Social interaction subscore | 8 | ↑ | Threshold: 4 | ||
ADI-R | Social interactions | 18 | ↑ | Threshold: 10 | |
Communication | 16 | ↑ | Threshold: 8 | ||
Restricted and repetitive behaviors | 4 | ↑ | Threshold: 3 | ||
Vineland-II | Communication | 26 | ↓ | 48 (± 8) (< 1st percentile) | |
Daily life | 34 | ↓ | 70 (± 7) (2nd percentile) | ||
Socialization | 31 | ↓ | 58 (± 8) (< 1st percentile) | ||
WAIS-IV | Verbal comprehension subscore | 122 | ↑ | 100 (93rd percentile) | |
Perceptual reasoning subscore | 88 | ↓ | 100 (21st percentile) | ||
Working memory subscore | 83 | ↓ | 100 (13th percentile) | ||
Processing speed subscore | 81 | ↓ | 100 (10th percentile) | ||
Autism-spectrum quotient (AQ) | Controls | ASD | |||
Total score | 23 | ↑ | 16.4 (± 6.3) | 35.8 (± 6.5) | |
Social skills subscore | 2 | ↔ | 2.6 (± 2.3) | 7.5 (± 1.9) | |
Attention switching subscore | 5 | ↔ | 3.9 (± 1.9) | 8.0 (± 1.8) | |
Local details subscore | 7 | ↔ | 5.3 (± 2.3) | 6.7 (± 2.3) | |
Communication subscore | 5 | ↑ | 2.4 (± 1.9) | 7.2 (± 2.0) | |
Imagination subscore | 4 | ↑ | 2.3 (± 1.7) | 6.4 (± 2.1) | |
Glasgow Sensory Questionnaire (GSQ) | Low AQ | High AQ | |||
Total hypersensitivity score | 34 | ↑ | 21.9 (± 8.4) | 46.9 (± 14.9) | |
Total hyposensitivity score | 24 | ↔ | 19.6 (± 8.0) | 35.9 (± 12.4) | |