Word reading and reading-related skills in Hebrew-speaking adolescents with Williams syndrome.

This study investigated word reading and reading-related skills in 17 Hebrew-speaking individuals with Williams syndrome, ages 11-22. Reading of real words was at the third grade level, yet six participants could not read nonce words at all. The relatively high percentage of nonreaders could be a consequence of the special characteristics of Hebrew orthography, which realizes consonants as letters and vowels as diacritic dots and dashes below and above the line.

Computerized cognitive testing in patients with type I Gaucher disease: effects of enzyme replacement and substrate reduction.

Purpose: Because of concern for drug-induced cognitive dysfunction during clinical trials using substrate reduction therapy (miglustat) in type 1 Gaucher disease and because it has been suggested that some patients with type 1 Gaucher disease may develop neurocognitive impairment as part of the natural history, two different batteries of neuropsychological tests were devised to examine these issues. Using these tests, cognitive function was assessed in patients treated with miglustat, in patients receiving enzyme replacement (standard care for symptomatic patients), and in untreated (milder) patients.

Methods: For this study, 55/60 patients exposed to miglustat in Israel participated in psychologist-administered testing; 36/55 participated in computerized testing.