Article
Cognitive rehabilitation in a child with Joubert Syndrome: Developmental trends and adaptive changes in a single case report.
Research in developmental disabilities - 1 Dec 2015
Gagliardi Chiara, Brenna Viola, Romaniello Romina, Arrigoni Filippo, Tavano Alessandro, Romani Marta, Valente Enza Maria, Borgatti Renato
Abstract excerpt
We report the clinical and rehabilitative follow up of M, a female child carrying a compound heterozygous pathogenic mutations in the TCTN1 gene and affected by Joubert Syndrome (JS). JS is a congenital cerebellar ataxia characterized by "the molar tooth sign" on axial MRI, a pathognomonic neuroradiological malformation involving the cerebellum and brainstem. JS presents with high phenotypic/cognitive...
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