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  • Title: [Joubert syndrome. Report of four cases with a favourable evolution].
    Author: Rivero Martinez E, Pascual Castroviejo I.
    Journal: Rev Neurol; ; 35(10):918-21. PubMed ID: 12436396.
    Abstract:
    OBJECTIVES: To present 4 patients with Joubert syndrome who had a favourable evolution as well as to show that many cases have better prognosis than it is usually though. CASE REPORT: Anamnesis, image and psychological studies of 4 children with Joubert syndrome, who had been seen in the Pediatric Neurology Service of the University Hospital La Paz of Madrid. RESULTS: Four of our 11 patients with Joubert syndrome (36.36%) presented a favourable evolution. Their age ranged between 25 months old and 12 years old. The comprehensive language corresponded to their ages in 3 patients. Two patients began to talk at 19 and 20 months respectively. Three children exhibited a normal language and 1 only communicated by gestures at the time of the last clinical study. All the four children walked without help. The mental level was calculated by the Raven scale in 2 cases and they showed a borderline intellectual quotient (IQ). Both patients were self sufficient in their daily cleanliness and feeding. A patient was able to read, to write and to make mathematical calculi. CONCLUSIONS: The Joubert syndrome is a heterogeneous disease from the clinic and genetics points of view, as well as in the evolution. Because of that, an attentive neuropsychological evaluation is necessary before giving the prognosis of the children.
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