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New Insights into the Neuropsychological Profile and Intellectual Quotient Variability in Joubert Syndrome Compared to Other Congenital Cerebellar Malformations

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Abstract

The neuropsychological characteristics of the cerebellar cognitive affective syndrome (CCAS) in congenital, non-progressive malformations of the cerebellum have been scarcely investigated, and even less is known for Joubert syndrome (JS), an inherited, non-progressive cerebellar ataxia characterized by the so-called molar tooth sign. The few studies on this topic reported inconsistent results about intellectual functioning and specific neuropsychological impairments. The aim of this research is to examine the neuropsychological profile of JS compared to other congenital cerebellar malformations (CM), considering individual variability of intellectual quotient (IQ) in the two groups. Fourteen patients with JS and 15 patients with CM aged 6-25 years were tested through a comprehensive, standardized neuropsychological battery. Their scores in the neuropsychological domains were inspected through descriptive analysis and compared by mean of MANOVA and ANOVA models, then replicated inserting IQ as covariate. The two groups showed a largely overlapping neuropsychological profile, consistent with CCAS. However, the JS group showed worse performance in visual-spatial memory compared to CM patients, although this difference was mitigated when considering IQ. These findings highlight a divergence between JS and other CM in visual-spatial memory, which might suggest a critical role of the cerebellum in recalling task-relevant memories and might inform rehabilitative interventions.

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Data Availability

The anonymized datasets generated for this study are publicly available at this link: https://zenodo.org/record/7852234#.ZFonU3bMK5c.

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Acknowledgements

We would thank all children and their parents for taking part into the study.

Funding

This study was funded by the Italian Ministry of Health (Ricerca Finalizzata 2013: NET-2013-02356160-4, to RB; Ricerca Finalizzata 2016: GR-2016-02363640 to CU; Ricerca Corrente 2021-2022-2023).

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Authors and Affiliations

  1. Scientific Institute, IRCCS E. Medea, Neuropsychiatry and Neurorehabilitation Unit, Bosisio Parini, Lecco, Italy

    Niccolò Butti, Viola Oldrati, Elisabetta Ferrari & Cosimo Urgesi

  2. PhD Program in Neural and Cognitive Sciences, Department of Life Sciences, University of Trieste, Trieste, Italy

    Niccolò Butti

  3. IRCCS Mondino Foundation, Pavia, Italy

    Romina Romaniello & Renato Borgatti

  4. SPAEE, Catholic University of the Sacred Heart, Milan, Italy

    Chiara Gagliardi

  5. Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy

    Renato Borgatti

  6. Laboratory of Cognitive Neuroscience, Department of Languages and Literatures, Communication, Education and Society, University of Udine, Udine, Italy

    Cosimo Urgesi

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  1. Niccolò Butti
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Contributions

Niccolò Butti, Cosimo Urgesi, Romina Romaniello, Chiara Gagliardi, and Renato Borgatti conceived the study design. Material preparation, data collection, and analysis were performed by Niccolò Butti, Elisabetta Ferrari, and Viola Oldrati. Niccolò Butti, Elisabetta Ferrari, and Viola Oldrati wrote and revised the first draft and all authors commented on previous versions of the manuscript. All authors critically read, improved, and approved the final manuscript.

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Correspondence to Niccolò Butti.

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The study was approved by the Ethics Committee of the Scientific Institute IRCCS E. Medea (Prot. N.34/18 – CE) and procedures were in accordance to the 1964 Declaration of Helsinki and its later amendments.

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Butti, N., Oldrati, V., Ferrari, E. et al. New Insights into the Neuropsychological Profile and Intellectual Quotient Variability in Joubert Syndrome Compared to Other Congenital Cerebellar Malformations. Cerebellum 23, 579–588 (2024). https://doi.org/10.1007/s12311-023-01580-y

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