Table 2.
Sex | Cognitive test | Score | Schooling | Epilepsy | Febrile seizures | Pheno-type | MRI |
M | WPPSI III | 74 | Mainstream with support | CMD | WM changes (patchy)+2 + 4 | ||
F | na | na | Mainstream with support | Yes | CMD | WM changes (diffuse) 1 + 2+3 | |
M | WISC V | 96 | Mainstream | Yes | LGMD | No MRI available | |
F | WISC V | 91 | Special school | Yes | LGMD | WM changes (diffuse)+1 + 2+4 | |
M | na | na | Mainstream | Yes | CMD | WM changes | |
M | Bayley | Cog:100 | Not yet in education | CMD | MRI normal | ||
F | SON-R | <50 | Special school | Yes | LGMD | WM changes (diffuse) + 1 |
Notes. 1 = pontine hypoplasia, 2 = cobblestone malformation, 3 = mega cisterna magna, 4 = Blake’s pouch cyst. F = female, M = male, WPPSI = Wechsler Preschool and Primary Scale of Intelligence, WISC = Wechsler Intelligence Scale for Children, SON-R=Snijders-Oomen non-verbal intelligence test, CMD = congenital muscular dystrophy, LGMD = limb-girdle-like-muscular dystrophy, MRI = magnetic resonance imaging, WM = white matter.