期刊名称：Revue de Neuropsychologie Neurosciences Cognitives et Cliniques
印刷版ISSN：2101-6739
电子版ISSN：2102-6025
出版年度：2017
卷号：9
期号：3
页码：195-202
DOI：10.1684/nrp.2017.0426
出版社：John Libbey Eurotext
摘要：Joubert's syndrome is a rare genetic disorder that affects the cerebellum and the brain stem. The aim of the present study was to document the cognitive and psychomotor development in 23 participants (6 children, mean age: 23 months; and 17 children/teenagers, mean age: 8 years). Results revealed intra- and inter-heterogeneity of psychomotor and intellectual profiles. Regarding psychomotor development, only one child showed global delay. Five out of the six children showed delay in postural skills, three of them a delay in visual-motor coordination skills and three of them a delay in language development and social skills. Eight out of the 17 teenagers showed an intellectual deficiency. For the remaining subjects, several cognitive disorders were observed, mostly neurovisual, praxis, language and attention deficits. We conclude that a detailed neuropsychological evaluation and follow-up is necessary in order to precisely document the frequency, specificity and heterogeneity of the deficits as well as the nature of the cognitive profiles that can be found in subjects with Joubert's syndrome.
Loading...
