Table 2 Summary of the phenotypic features of ASD patients carrying MECP2 mutations
From: Identification of autism-related MECP2 mutations by whole-exome sequencing and functional validation
Subject | P.138 | P.548 | P.660 |
|---|---|---|---|
Score on CARS | 30 | 48 | 53 |
Score on ABC | 158 | 245 | 195 |
Matched items in DSM-IV | 12 | 13 | 9 |
Social (4) | 4 | 3 | 4 |
Language (4) | 4 | 3 | 1 |
Stereotypic behavior (4) | 1 | 4 | 1 |
Functional impairment (3) | 3 | 3 | 3 |
Dyslexia | Y | Y | Y |
Mathematics disorder | Y | Y | Y |
Brain imaging scan | NT | N | Y |
Comorbidity | ADHD | N | Mental retardation |
Family history | N | N | N |