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. 2024 Sep 3;11(5):1021–1033. doi: 10.3233/JND-240023

Table 2.

Epilepsy, brain MRI findings, cognitive assessments, and schooling

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.