TABLE 1.
Summary of BRSK2 mutant patients’ early development and evaluation results.
| Subjects | Our patient | #Patients published |
| Gender | Male | 11/12, Male |
| Diagnosis of ASD | Yes | 10/12, 1/12 Borderline |
| Speech delay | Yes | 12/12 |
| Motor delay | Yes | 11/12 |
| Intelligence disability | No | 10/12 |
| Age of walking (months) | 18 | 12–20 |
| Age of speaking (months) | 25 | 18–24/non-verbal at evaluation |
| Comorbidity | ||
| Feeding problem | Yes | 2/12 |
| Epilepsy | No | 3/12 |
| Sleep disorder | No | 3/12 |
| Clinical evaluations | ||
| Age of first GMDS (months) | 19.5 | – |
| Locomotor DQ | 69 | |
| Personal-social DQ | 46 | |
| Hearing-speech DQ | 33 | |
| Hand-eye coordination DQ | 59 | |
| Performance DQ | 49 | |
| Age of WPPSI-IV (years, months) | 4,6 | – |
| VCI | 88 | |
| VSI | 100 | |
| FRI | 89 | |
| WMI | 76 | |
| PSI | 86 | |
| FSIQ | 81 | |
| Age of ADOS (months) | 19.5 | – |
| Social affect | 11 | |
| Restricted and repetitive behavior | 2 | |
| Total score | 13 (ASD cut-off:11) |
#Only 12 of 14 patients with detailed clinical data published in previous studies. GMDS, Griffiths Mental Development Scales. WPPSI-IV, Wechsler Preschool and Primary Scale of Intelligence-Fourth Edition. VCI, Verbal Comprehension Index; VSI, Visual Spatial Index; FRI, Fluid Reasoning Index; WMI, Working Memory Index; PSI, Processing Speed Index; FSIQ, Full Scale Intelligence Quotient. ADOS, Autism Diagnostic Observation Schedule, second edition.