Case Report
An Unusual Developmental Profile of Salla Disease in a Patient with the SallaFIN Mutation
Table 1
Neuropsychological evaluation of the proband at 30 years of age.
| Full name of the test | Abbreviation | Reference | The domain of the test/chosen parts | Resultsa |
| Wechsler Intelligence Scale for Children-III | WISC-III | Wechsler (1991) [9] |
*Verbal skills | 1 |
*Perceptual skills | 1 | Children’s Neuropsychological Test Battery |
NEPSY | Korkman et al. (1997) [10] |
*Comprehension of instructions | 0 |
*Oromotor sequences | 2 |
*Repetition of nonsense words | 2 | Physical and Neurological Examination of Soft Signs | PANESS | Denckla (1985) [11] | Corpus callosum dysfunction | 2 | Static and Dynamic Cerebellar Tests | Cerebellar tests | Fawcett et al. (2001) [12] | Dysfunction of cerebellum | 1 | Timed Up-and-Go-test | TUG-test | Williams et al. (2005) [13] | Basic and functional mobility | 1 |
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a0 = among average, 1 = mild deficits, 2 = severe deficits.
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