Cognitive rehabilitation in a child with Joubert Syndrome: Developmental trends and adaptive changes in a single case report.
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 variability, and little is known about cognitive rehabilitation programs. We describe the therapeutic settings, intensive rehabilitation targets and outcome indexes in M's cognitive development. Using a single case evidence-based approach, we attempt to distinguish the effectiveness of the intervention from the overall developmental trend. We assume that an adequate amount of focused, goal directed treatment in a relative short period of time can be at least as effective as one provided in longer time, and much less interfering with the child's everyday life. We conclude by discussing specific issues in cognitive development and rehabilitation in JS and, more broadly, in cerebellar malformations.
Neuropsychiatry and Neurorehabilitation Unit, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy. Electronic address: chiara.gagliardi@bp.lnf.it.
Chiara
C
Gagliardi
Neuropsychiatry and Neurorehabilitation Unit, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy.
Viola
V
Brenna
Neuropsychiatry and Neurorehabilitation Unit, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy.
Romina
R
Romaniello
Neuroimaging Unit, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy.
Filippo
F
Arrigoni
Department of Neuroscience, Max Planck Institute for Empirical Aesthetics, Frankfurt am Main, Germany.
Alessandro
A
Tavano
IRCCS Casa Sollievo della Sofferenza, Mendel Laboratory, San Giovanni Rotondo, Italy.
Marta
M
Romani
Section of Neurosciences, Department of Medicine and Surgery, University of Salerno, Salerno, Italy.
Enza Maria
EM
Valente
Neuropsychiatry and Neurorehabilitation Unit, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy.
Renato
R
Borgatti
D000015:Abnormalities, Multiple / Q000503:physiopathology / Q000523:psychology / Q000534:rehabilitation*; D002531:Cerebellum / Q000002:abnormalities* / Q000503:physiopathology; D002648:Child; D002657:Child Development; D002675:Child, Preschool; D003071:Cognition; D005124:Eye Abnormalities / Q000503:physiopathology / Q000523:psychology / Q000534:rehabilitation*; D005260:Female; D006801:Humans; D007223:Infant; D052177:Kidney Diseases, Cystic / Q000503:physiopathology / Q000523:psychology / Q000534:rehabilitation*; D010641:Phenotype; D012160:Retina / Q000002:abnormalities* / Q000503:physiopathology
Cognitive profile; Developmental disabilities; Joubert Syndrome; Rehabilitation; Single case evidence based approach