Patient | Patient 1 | Patient 2 | Mother |
---|---|---|---|
Age | 11 years | 10 years | 38 years |
Gender | Male | Male | Female |
Prenatal history | 41 weeks, 2500g, NSVD Infantile hypotonia | 41 weeks, 3000g, C/sec | Â |
Gross motor of K-CDR | 30 month function | 30 month function | Â |
Fine motor of K-CDR | 20 month function | 22 month function | Â |
Self-help level of K-CDR | 24 month function | 12 month function | Â |
Social level of K-CDR | 18 month function | 16 month function | Â |
Language development of K-CDR | 14 month function | 14 month function | Â |
Mental scale of BSID II | 24 month function | 9 month function | Â |
Motor scale of BSID II | 14 month function | 12 month function | Â |
K-WAIS-IV | Â | Â | 77 (6th percentile) |
Head and face | Brachycephaly Large & Low set ears Nose with upturned nares | Midface hypoplasia Large ears Low nasal bridge | Prominent lips |
Autism or autistic features | O | O | X |
Generalized hypotonia | O | O | X |
Choreiform movements | O | O | X |
Progressice spasticity | O | O | X |
Drooling | O | O | X |
Bruxism | O | X | X |
Brain-MRI finging | normal | Normal | None |
Recurrent infecition | Pneumonia and gastroenteritis | Pneumonia | None |
Medical problem | Epilepsy treated with oxycarbamazepine | Epilepsy treated with valproate | Narcolepsy treated with modafinil and SSRI |